#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
LRP1	4035	broad.mit.edu	37	12	57553625	57553625	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57553625G>A	ENST00000243077.3	+	12	2282	c.1816G>A	c.(1816-1818)Ggt>Agt	p.G606S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	606					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAATGTGGAGGGTGTGGCCGT	0.577																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1816-1818)Ggt>Agt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						120.0	102.0	108.0					12																	57553625		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57553625G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1816G>A	12.37:g.57553625G>A	ENSP00000243077:p.Gly606Ser						p.G606S	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	12	2282	+			606					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1816G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225648	0.79576	.	.	ENSG00000123384	ENST00000243077	D	0.93247	-3.19	5.21	5.21	0.72293	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.96294	0.8791	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95415	0.8502	10	0.44086	T	0.13	.	16.6709	0.85266	0.0:0.0:1.0:0.0	.	606	Q07954	LRP1_HUMAN	S	606	ENSP00000243077:G606S	ENSP00000243077:G606S	G	+	1	0	LRP1	55839892	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	9.623000	0.98386	2.884000	0.98904	0.655000	0.94253	GGT		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	85	0	0	0	1	0	25	85				
NFAT5	10725	broad.mit.edu	37	16	69725771	69725771	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:69725771G>A	ENST00000354436.2	+	12	2307	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	NFAT5_ENST00000349945.1_Silent_p.Q587Q|NFAT5_ENST00000432919.1_Silent_p.Q681Q|NFAT5_ENST00000393742.2_Silent_p.Q587Q|NFAT5_ENST00000567239.1_Silent_p.Q680Q|NFAT5_ENST00000566899.1_Silent_p.Q587Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	663					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAAAACAGCAGCAGATTCAGC	0.438																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1759-1761)caG>caA		nuclear factor of activated T-cells 5, tonicity-responsive							100.0	97.0	98.0					16																	69725771		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725771G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1989G>A	16.37:g.69725771G>A						NFAT5_ENST00000432919.1_Silent_p.Q681Q|NFAT5_ENST00000566899.1_Silent_p.Q587Q|NFAT5_ENST00000393742.2_Silent_p.Q587Q|NFAT5_ENST00000567239.1_Silent_p.Q680Q|NFAT5_ENST00000354436.2_Silent_p.Q663Q	p.Q587Q	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3313	+			663					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.1761G>A	CCDS10881.1																																																																																				0.438	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		9	95	0	0	0	1	0	9	95				
FAM47A	158724	broad.mit.edu	37	X	34149642	34149642	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:34149642G>C	ENST00000346193.3	-	1	805	c.754C>G	c.(754-756)Ccc>Gcc	p.P252A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	252	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGAGTGATGGGAGGCCCCGGG	0.632																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(754-756)Ccc>Gcc		family with sequence similarity 47, member A							31.0	33.0	32.0					X																	34149642		2198	4294	6492	SO:0001583	missense	158724							g.chrX:34149642G>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.754C>G	X.37:g.34149642G>C	ENSP00000345029:p.Pro252Ala						p.P252A	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	805	-			252			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.754C>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029181	0.19512	.	.	ENSG00000185448	ENST00000346193	T	0.21734	1.99	0.158	0.158	0.14942	.	.	.	.	.	T	0.22513	0.0543	L	0.58101	1.795	0.09310	N	1	P	0.49961	0.93	P	0.45829	0.494	T	0.13072	-1.0523	8	0.52906	T	0.07	.	.	.	.	.	252	Q5JRC9	FA47A_HUMAN	A	252	ENSP00000345029:P252A	ENSP00000345029:P252A	P	-	1	0	FAM47A	34059563	0.590000	0.26815	0.009000	0.14445	0.009000	0.06853	2.260000	0.43267	0.187000	0.20147	0.190000	0.17370	CCC		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		20	71	0	0	0	1	0	20	71				
PTPN21	11099	broad.mit.edu	37	14	88945893	88945893	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:88945893G>A	ENST00000556564.1	-	13	2166	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	PTPN21_ENST00000328736.3_Missense_Mutation_p.R628C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	628					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCGCGTGGCGCGCGGCGGTG	0.711																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1882-1884)Cgc>Tgc		protein tyrosine phosphatase, non-receptor type 21							20.0	22.0	21.0					14																	88945893		2187	4275	6462	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945893G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1882C>T	14.37:g.88945893G>A	ENSP00000452414:p.Arg628Cys					PTPN21_ENST00000328736.3_Missense_Mutation_p.R628C	p.R628C	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2166	-			628						Missense_Mutation	SNP	ENST00000556564.1	37	c.1882C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732349	0.69189	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.74209	-0.82;-0.82	5.17	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	M	0.69823	2.125	0.48975	D	0.999738	D	0.89917	1.0	P	0.59288	0.855	D	0.83416	0.0030	10	0.87932	D	0	.	13.8407	0.63437	0.0:0.0:0.7212:0.2788	.	628	Q16825	PTN21_HUMAN	C	628	ENSP00000330276:R628C;ENSP00000452414:R628C	ENSP00000330276:R628C	R	-	1	0	PTPN21	88015646	1.000000	0.71417	0.035000	0.18076	0.517000	0.34286	5.879000	0.69690	0.495000	0.27882	0.591000	0.81541	CGC		0.711	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			17	44	0	0	0	1	0	17	44				
CELSR2	1952	broad.mit.edu	37	1	109794268	109794268	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:109794268C>T	ENST00000271332.3	+	1	1628	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	523	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTAGGCTACCTGGTTCTCCA	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1567-1569)Ctg>Ttg		cadherin, EGF LAG seven-pass G-type receptor 2							137.0	109.0	119.0					1																	109794268		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794268C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1567C>T	1.37:g.109794268C>T							p.L523L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1628	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	523			Cadherin 4.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.1567C>T	CCDS796.1																																																																																				0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		19	113	0	0	0	1	0	19	113				
FOSL1	8061	broad.mit.edu	37	11	65660431	65660431	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:65660431G>T	ENST00000312562.2	-	4	928	c.742C>A	c.(742-744)Cat>Aat	p.H248N	FOSL1_ENST00000448083.2_Missense_Mutation_p.H146N|FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.H212N	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	248					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CTCTTGCGATGAGCTGAGGCA	0.612																																						ENST00000312562.2																			0				breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(742-744)Cat>Aat		FOS-like antigen 1							51.0	53.0	52.0					11																	65660431		2201	4296	6497	SO:0001583	missense	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65660431G>T	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.742C>A	11.37:g.65660431G>T	ENSP00000310170:p.His248Asn					FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.H212N|FOSL1_ENST00000448083.2_Missense_Mutation_p.H146N	p.H248N	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	4	928	-			248					B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	c.742C>A	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726103	0.89298	.	.	ENSG00000175592	ENST00000448083;ENST00000312562;ENST00000531493	T	0.79940	-1.32	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	L	0.46885	1.475	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	D	0.87516	0.2443	10	0.66056	D	0.02	-13.8349	15.7373	0.77856	0.0:0.0:1.0:0.0	.	146;248	B4DR11;P15407	.;FOSL1_HUMAN	N	146;248;212	ENSP00000310170:H248N	ENSP00000310170:H248N	H	-	1	0	FOSL1	65417007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.045000	0.93812	2.287000	0.76781	0.561000	0.74099	CAT		0.612	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		12	82	1	0	5.50884e-06	1	5.74128e-06	12	82				
OR4D5	219875	broad.mit.edu	37	11	123811145	123811145	+	Silent	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:123811145A>G	ENST00000307033.2	+	1	896	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTCTGTGCTATACACAATTG	0.488																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(820-822)ctA>ctG		olfactory receptor, family 4, subfamily D, member 5							146.0	124.0	132.0					11																	123811145		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811145A>G	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.822A>G	11.37:g.123811145A>G							p.L274L	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	896	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	274					B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.822A>G	CCDS31699.1																																																																																				0.488	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		16	131	0	0	0	1	0	16	131				
TRPV4	59341	broad.mit.edu	37	12	110226428	110226428	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:110226428T>A	ENST00000418703.2	-	12	2079	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	TRPV4_ENST00000536838.1_Missense_Mutation_p.D628V|TRPV4_ENST00000346520.2_Missense_Mutation_p.D602V|TRPV4_ENST00000541794.1_Missense_Mutation_p.D615V|TRPV4_ENST00000392719.2_Missense_Mutation_p.D615V|TRPV4_ENST00000261740.2_Missense_Mutation_p.D662V|TRPV4_ENST00000537083.1_Missense_Mutation_p.D602V|TRPV4_ENST00000544971.1_Missense_Mutation_p.D555V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	662					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGTCTCGCTGTCACGGCACGA	0.597																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1984-1986)gAc>gTc		transient receptor potential cation channel, subfamily V, member 4							249.0	176.0	201.0					12																	110226428		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110226428T>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1985A>T	12.37:g.110226428T>A	ENSP00000406191:p.Asp662Val					TRPV4_ENST00000346520.2_Missense_Mutation_p.D602V|TRPV4_ENST00000261740.2_Missense_Mutation_p.D662V|TRPV4_ENST00000392719.2_Missense_Mutation_p.D615V|TRPV4_ENST00000541794.1_Missense_Mutation_p.D615V|TRPV4_ENST00000537083.1_Missense_Mutation_p.D602V|TRPV4_ENST00000536838.1_Missense_Mutation_p.D628V|TRPV4_ENST00000544971.1_Missense_Mutation_p.D555V	p.D662V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			12	2079	-			662					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1985A>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490600	0.84962	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.33;-2.55;-2.34;-2.55;-2.33;-2.55	5.71	5.71	0.89125	Ion transport (1);	0.043561	0.85682	D	0.000000	D	0.92779	0.7704	M	0.63428	1.95	0.80722	D	1	D;D;D;B;B	0.89917	0.999;1.0;0.999;0.126;0.13	D;D;D;B;B	0.79784	0.988;0.993;0.966;0.07;0.039	D	0.91257	0.5034	10	0.27082	T	0.32	-48.8229	14.8145	0.70020	0.0:0.0:0.0:1.0	.	602;662;555;615;628	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	662;662;615;602;555;602;615;628	ENSP00000406191:D662V;ENSP00000261740:D662V;ENSP00000376480:D615V;ENSP00000319003:D602V;ENSP00000443611:D555V;ENSP00000442738:D602V;ENSP00000442167:D615V;ENSP00000444336:D628V	ENSP00000261740:D662V	D	-	2	0	TRPV4	108710811	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.303000	0.78871	2.176000	0.68965	0.533000	0.62120	GAC		0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		17	179	0	0	0	1	0	17	179				
TCP10L2	401285	broad.mit.edu	37	6	167595385	167595385	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:167595385G>C	ENST00000366832.2	+	8	1174	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	348										endometrium(1)|kidney(2)|lung(3)	6						GCTCCCTCCAGACAGGACATG	0.522																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(1042-1044)aGa>aCa		t-complex 10-like 2							32.0	24.0	26.0					6																	167595385		679	1482	2161	SO:0001583	missense	401285							g.chr6:167595385G>C		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.1043G>C	6.37:g.167595385G>C	ENSP00000355797:p.Arg348Thr						p.R348T	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			8	1174	+			348						Missense_Mutation	SNP	ENST00000366832.2	37	c.1043G>C	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	g	11.28	1.593219	0.28357	.	.	ENSG00000166984	ENST00000366832	T	0.28895	1.59	1.11	0.148	0.14843	.	.	.	.	.	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	P	0.46020	0.871	B	0.34931	0.192	T	0.22452	-1.0216	9	0.87932	D	0	.	3.281	0.06915	0.3099:0.0:0.6901:0.0	.	348	B9ZVM9	TCP2L_HUMAN	T	348	ENSP00000355797:R348T	ENSP00000355797:R348T	R	+	2	0	TCP10L2	167515375	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.324000	0.02690	0.051000	0.15978	0.162000	0.16502	AGA		0.522	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		9	16	0	0	0	1	0	9	16				
CHD2	1106	broad.mit.edu	37	15	93547975	93547975	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:93547975C>T	ENST00000394196.4	+	34	5475	c.4407C>T	c.(4405-4407)ttC>ttT	p.F1469F	CHD2_ENST00000557381.1_Silent_p.F1469F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1469					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGGAGACATTCAGCATAGTAA	0.512																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4405-4407)ttC>ttT		chromodomain helicase DNA binding protein 2							140.0	132.0	134.0					15																	93547975		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93547975C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4407C>T	15.37:g.93547975C>T						CHD2_ENST00000557381.1_Silent_p.F1469F	p.F1469F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		34	5475	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1469					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.4407C>T	CCDS10374.2																																																																																				0.512	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		36	69	0	0	0	1	0	36	69				
TLN1	7094	broad.mit.edu	37	9	35707817	35707817	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:35707817G>C	ENST00000314888.9	-	35	4896	c.4543C>G	c.(4543-4545)Cgt>Ggt	p.R1515G	TLN1_ENST00000540444.1_Missense_Mutation_p.R1515G|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1515	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGTGGTACGGGCAGAAGCC	0.542																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4543-4545)Cgt>Ggt		talin 1							189.0	172.0	178.0					9																	35707817		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35707817G>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4543C>G	9.37:g.35707817G>C	ENSP00000316029:p.Arg1515Gly					TLN1_ENST00000540444.1_Missense_Mutation_p.R1515G|TLN1_ENST00000464379.1_5'UTR	p.R1515G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		35	4896	-	all_epithelial(49;0.167)		1515			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4543C>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601968	0.46423	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68479	-0.32;-0.33	5.62	4.71	0.59529	.	0.237972	0.41396	D	0.000897	T	0.56949	0.2020	L	0.38175	1.15	0.40565	D	0.981244	B	0.27498	0.18	B	0.22152	0.038	T	0.59300	-0.7480	10	0.72032	D	0.01	-6.7651	13.7959	0.63171	0.0:0.0:0.7224:0.2776	.	1515	Q9Y490	TLN1_HUMAN	G	1515	ENSP00000316029:R1515G;ENSP00000442981:R1515G	ENSP00000316029:R1515G	R	-	1	0	TLN1	35697817	1.000000	0.71417	0.971000	0.41717	0.911000	0.54048	2.799000	0.47892	1.352000	0.45808	0.561000	0.74099	CGT		0.542	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		21	179	0	0	0	1	0	21	179				
ALK	238	broad.mit.edu	37	2	29754892	29754892	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:29754892G>A	ENST00000389048.3	-	4	1949	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	348	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CACCGAGACGGCCAGTGTGCA	0.592			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1042-1044)gCc>gTc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						126.0	112.0	117.0					2																	29754892		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29754892G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1043C>T	2.37:g.29754892G>A	ENSP00000373700:p.Ala348Val					ALK_ENST00000431873.1_Intron	p.A348V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			4	1949	-	Acute lymphoblastic leukemia(172;0.155)		348			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1043C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386182	0.42308	.	.	ENSG00000171094	ENST00000389048	T	0.02140	4.43	6.08	4.11	0.48088	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.523169	0.14357	U	0.324722	T	0.01730	0.0055	N	0.08118	0	0.80722	D	1	P	0.42078	0.77	B	0.43508	0.422	T	0.70263	-0.4920	9	.	.	.	.	8.0644	0.30652	0.0:0.1463:0.6314:0.2224	.	348	Q9UM73	ALK_HUMAN	V	348	ENSP00000373700:A348V	.	A	-	2	0	ALK	29608396	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	3.641000	0.54360	1.567000	0.49668	-0.176000	0.13171	GCC		0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		9	79	0	0	0	1	0	9	79				
ACTN3	89	broad.mit.edu	37	11	66322064	66322064	+	RNA	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:66322064G>A	ENST00000502692.1	+	0	772				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GCACCGTACCGCAACGTCAAC	0.587																																						ENST00000502692.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							68.0	76.0	73.0					11																	66322064		2133	4261	6394			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66322064G>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66322064G>A						ACTN3_ENST00000513398.1_RNA		NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN			0	772	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.587	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		6	24	0	0	0	1	0	6	24				
PCDHB13	56123	broad.mit.edu	37	5	140594317	140594317	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140594317G>A	ENST00000341948.4	+	1	809	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAAGCTGAGCTCAGGTT	0.562																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(622-624)Gag>Aag									61.0	65.0	64.0					5																	140594317		2203	4293	6496	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594317G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.622G>A	5.37:g.140594317G>A	ENSP00000345491:p.Glu208Lys						p.E208K	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	809	+			208			Cadherin 2.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.622G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	g	16.98	3.271561	0.59649	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01705	4.68	3.51	2.62	0.31277	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07234	0.0183	M	0.82193	2.58	0.09310	N	1	P	0.51449	0.945	P	0.61070	0.883	T	0.20840	-1.0263	9	0.42905	T	0.14	.	4.2305	0.10601	0.2043:0.0:0.6148:0.1809	.	208	Q9Y5F0	PCDBD_HUMAN	K	208	ENSP00000345491:E208K	ENSP00000345491:E208K	E	+	1	0	PCDHB13	140574501	0.000000	0.05858	0.018000	0.16275	0.130000	0.20726	0.221000	0.17680	0.583000	0.29574	0.306000	0.20318	GAG		0.562	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		5	116	0	0	0	1	0	5	116				
AKAP17A	8227	broad.mit.edu	37	X	1712553	1712553	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:1712553G>T	ENST00000313871.3	+	2	394	c.198G>T	c.(196-198)acG>acT	p.T66T	AKAP17A_ENST00000381261.3_Silent_p.T66T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	66					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGTTCTCCACGCTGCGTATTT	0.592																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(196-198)acG>acT		A kinase (PRKA) anchor protein 17A							195.0	176.0	182.0					X																	1712553		2203	4296	6499	SO:0001819	synonymous_variant	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712553G>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.198G>T	X.37:g.1712553G>T						AKAP17A_ENST00000381261.3_Silent_p.T66T	p.T66T	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	394	+			66					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	ENST00000313871.3	37	c.198G>T	CCDS14116.1																																																																																				0.592	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		28	254	1	0	3.73148e-12	1	4.06024e-12	28	254				
PLCB1	23236	broad.mit.edu	37	20	8745842	8745842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:8745842C>T	ENST00000338037.6	+	26	2794	c.2767C>T	c.(2767-2769)Caa>Taa	p.Q923*	PLCB1_ENST00000378641.3_Nonsense_Mutation_p.Q923*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q923*|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	923					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTGAAACTTCAAAAGAAACA	0.378																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2767-2769)Caa>Taa		phospholipase C, beta 1 (phosphoinositide-specific)							80.0	75.0	77.0					20																	8745842		2203	4300	6503	SO:0001587	stop_gained	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8745842C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2767C>T	20.37:g.8745842C>T	ENSP00000338185:p.Gln923*					PLCB1_ENST00000338037.6_Nonsense_Mutation_p.Q923*|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q923*	p.Q923*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			26	3242	+			923					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	ENST00000338037.6	37	c.2767C>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	46	12.279138	0.99653	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	.	.	.	X	923;923;923;843;843	.	ENSP00000338185:Q923X	Q	+	1	0	PLCB1	8693842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.894000	0.99253	0.655000	0.94253	CAA		0.378	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			6	40	0	0	0	1	0	6	40				
RETNLB	84666	broad.mit.edu	37	3	108475982	108475982	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:108475982C>T	ENST00000295755.6	-	1	249	c.51G>A	c.(49-51)ctG>ctA	p.L17L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	17					cell proliferation (GO:0008283)	extracellular region (GO:0005576)		p.L17L(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CCGGGTTGATCAGCTGGAGAA	0.522																																						ENST00000295755.6																			1	Substitution - coding silent(1)	p.L17L(1)	lung(1)	endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						c.(49-51)ctG>ctA		resistin like beta							72.0	64.0	67.0					3																	108475982		2203	4300	6503	SO:0001819	synonymous_variant	84666				cell proliferation	extracellular region	hormone activity	g.chr3:108475982C>T	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.51G>A	3.37:g.108475982C>T							p.L17L	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN			1	249	-			17					Q14D27	Silent	SNP	ENST00000295755.6	37	c.51G>A	CCDS2953.1																																																																																				0.522	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355093.1			18	36	0	0	0	1	0	18	36				
DNAH11	8701	broad.mit.edu	37	7	21818701	21818701	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:21818701C>T	ENST00000409508.3	+	57	9493	c.9462C>T	c.(9460-9462)atC>atT	p.I3154I	DNAH11_ENST00000328843.6_Silent_p.I3161I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3161	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGACCATCGCTGATGCTG	0.463									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(9481-9483)atC>atT		dynein, axonemal, heavy chain 11							63.0	61.0	61.0					7																	21818701		1908	4141	6049	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21818701C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9462C>T	7.37:g.21818701C>T						DNAH11_ENST00000409508.3_Silent_p.I3154I	p.I3161I			Q96DT5	DYH11_HUMAN			58	9514	+			3161			Stalk (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.9483C>T																																																																																					0.463	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		6	34	0	0	0	1	0	6	34				
FAM47B	170062	broad.mit.edu	37	X	34962366	34962366	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:34962366G>C	ENST00000329357.5	+	1	1454	c.1418G>C	c.(1417-1419)gGa>gCa	p.G473A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	473										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAGACCTAGGAGTTAATGAA	0.453																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1417-1419)gGa>gCa		family with sequence similarity 47, member B							128.0	119.0	122.0					X																	34962366		2202	4297	6499	SO:0001583	missense	170062							g.chrX:34962366G>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1418G>C	X.37:g.34962366G>C	ENSP00000328307:p.Gly473Ala						p.G473A	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1454	+			473					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1418G>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	9.267	1.044723	0.19748	.	.	ENSG00000189132	ENST00000329357	T	0.72051	-0.62	0.235	0.235	0.15431	.	.	.	.	.	T	0.79764	0.4502	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66027	-0.6025	8	0.59425	D	0.04	.	.	.	.	.	473	Q8NA70	FA47B_HUMAN	A	473	ENSP00000328307:G473A	ENSP00000328307:G473A	G	+	2	0	FAM47B	34872287	0.003000	0.15002	0.007000	0.13788	0.007000	0.05969	-0.574000	0.05868	0.288000	0.22398	0.292000	0.19580	GGA		0.453	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		15	135	0	0	0	1	0	15	135				
USH2A	7399	broad.mit.edu	37	1	216495239	216495239	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:216495239T>C	ENST00000307340.3	-	9	2016	c.1630A>G	c.(1630-1632)Act>Gct	p.T544A	USH2A_ENST00000366942.3_Missense_Mutation_p.T544A|USH2A_ENST00000366943.2_Missense_Mutation_p.T544A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	544	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTCCTTCAGTGAAGCTCTCC	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1630-1632)Act>Gct		Usher syndrome 2A (autosomal recessive, mild)							153.0	141.0	145.0					1																	216495239		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216495239T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1630A>G	1.37:g.216495239T>C	ENSP00000305941:p.Thr544Ala	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T544A|USH2A_ENST00000366942.3_Missense_Mutation_p.T544A	p.T544A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	9	2016	-			544			Laminin EGF-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1630A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815269	0.70912	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.63580	-0.05;-0.05;-0.05	5.65	4.49	0.54785	EGF-like, laminin (3);	0.000000	0.43579	U	0.000554	D	0.83229	0.5209	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.86437	0.1764	10	0.87932	D	0	.	12.6812	0.56922	0.0:0.0:0.1379:0.8621	.	544;544	O75445-2;O75445	.;USH2A_HUMAN	A	544	ENSP00000305941:T544A;ENSP00000355910:T544A;ENSP00000355909:T544A	ENSP00000305941:T544A	T	-	1	0	USH2A	214561862	1.000000	0.71417	0.960000	0.40013	0.643000	0.38383	4.814000	0.62627	0.911000	0.36747	0.455000	0.32223	ACT		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		13	72	0	0	0	1	0	13	72				
MPP2	4355	broad.mit.edu	37	17	41975692	41975692	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41975692C>G	ENST00000461854.1	-	3	173	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	MPP2_ENST00000536246.1_Missense_Mutation_p.E19Q|MPP2_ENST00000518766.1_Missense_Mutation_p.E75Q|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000269095.4_Missense_Mutation_p.E30Q|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.E19Q|MPP2_ENST00000377184.3_Missense_Mutation_p.E47Q			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	30	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGTCCAGCTCTGCAGCCCCC	0.592																																						ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(88-90)Gag>Cag		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							118.0	102.0	108.0					17																	41975692		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41975692C>G		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.88G>C	17.37:g.41975692C>G	ENSP00000428286:p.Glu30Gln					MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000518766.1_Missense_Mutation_p.E75Q|MPP2_ENST00000377184.3_Missense_Mutation_p.E47Q|MPP2_ENST00000461854.1_Missense_Mutation_p.E30Q|MPP2_ENST00000536246.1_Missense_Mutation_p.E19Q|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.E19Q	p.E30Q	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	3	392	-		Breast(137;0.00314)	30			L27 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.88G>C		.	.	.	.	.	.	.	.	.	.	C	27.3	4.822423	0.90873	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000523501;ENST00000536246;ENST00000518766;ENST00000523220;ENST00000520406;ENST00000523762;ENST00000523934;ENST00000520241;ENST00000521178;ENST00000522172;ENST00000518478	T;T;T;T;T;T;T;T;T;T;T	0.53206	2.88;3.05;2.58;2.87;2.87;3.02;0.86;0.67;0.67;0.63;0.66	5.01	5.01	0.66863	L27, C-terminal (1);L27 (2);	.	.	.	.	T	0.54549	0.1865	L	0.43152	1.355	0.46564	D	0.999107	D;P;P	0.57257	0.979;0.876;0.952	P;P;P	0.57720	0.826;0.742;0.791	T	0.43147	-0.9409	9	0.22706	T	0.39	.	15.8768	0.79170	0.0:1.0:0.0:0.0	.	75;30;47	E7EV80;Q14168;Q14168-3	.;MPP2_HUMAN;.	Q	47;30;30;19;19;75;19;30;19;30;30;30;30;30	ENSP00000366389:E47Q;ENSP00000269095:E30Q;ENSP00000428286:E30Q;ENSP00000430540:E19Q;ENSP00000438012:E19Q;ENSP00000428182:E75Q;ENSP00000428468:E19Q;ENSP00000428354:E30Q;ENSP00000430797:E30Q;ENSP00000428938:E30Q;ENSP00000430443:E30Q	ENSP00000269095:E30Q	E	-	1	0	MPP2	39331218	1.000000	0.71417	0.933000	0.37362	0.997000	0.91878	6.908000	0.75730	2.605000	0.88082	0.655000	0.94253	GAG		0.592	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		6	42	0	0	0	1	0	6	42				
SCUBE2	57758	broad.mit.edu	37	11	9077436	9077436	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:9077436C>T	ENST00000309263.3	-	10	1183	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Missense_Mutation_p.D371N|SCUBE2_ENST00000457346.2_Missense_Mutation_p.D371N|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D371N			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	371	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAGGTCCTATCCAAAGAGCAC	0.498																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1111-1113)Gat>Aat		signal peptide, CUB domain, EGF-like 2							218.0	188.0	198.0					11																	9077436		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9077436C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1111G>A	11.37:g.9077436C>T	ENSP00000310658:p.Asp371Asn					SCUBE2_ENST00000450649.2_Missense_Mutation_p.D371N|SCUBE2_ENST00000520467.1_Missense_Mutation_p.D371N|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.D371N	p.D371N			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	10	1185	-			371			EGF-like 8; calcium-binding (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1111G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.01|19.01	3.744555|3.744555	0.69418|0.69418	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467|ENST00000519788;ENST00000531429	D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93|.	5.86|5.86	5.86|5.86	0.93980|0.93980	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.147834|.	0.64402|.	D|.	0.000010|.	T|.	0.44138|.	0.1279|.	N|N	0.03304|0.03304	-0.355|-0.355	0.47698|0.47698	D|D	0.999493|0.999493	B;B;B|.	0.30741|.	0.005;0.005;0.293|.	B;B;B|.	0.38803|.	0.009;0.023;0.282|.	T|.	0.41610|.	-0.9499|.	10|.	0.07325|.	T|.	0.83|.	.|.	20.1931|20.1931	0.98233|0.98233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	371;371;371|.	Q9NQ36-3;Q9NQ36-2;Q9NQ36|.	.;.;SCUB2_HUMAN|.	N|X	371|94;135	ENSP00000390481:D371N;ENSP00000310658:D371N;ENSP00000415187:D371N;ENSP00000429969:D371N|.	ENSP00000310658:D371N|.	D|W	-|-	1|3	0|0	SCUBE2|SCUBE2	9034012|9034012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.487000|7.487000	0.81328|0.81328	2.771000|2.771000	0.95319|0.95319	0.563000|0.563000	0.77884|0.77884	GAT|TGG		0.498	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		16	200	0	0	0	1	0	16	200				
NLRP12	91662	broad.mit.edu	37	19	54313706	54313706	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:54313706C>T	ENST00000324134.6	-	3	1375	c.1207G>A	c.(1207-1209)Gtc>Atc	p.V403I	NLRP12_ENST00000345770.5_Missense_Mutation_p.V403I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V403I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403I|NLRP12_ENST00000535162.1_Missense_Mutation_p.V403I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.V403F(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCAGGGGGACGAAGCACATG	0.557																																						ENST00000324134.6																			1	Substitution - Missense(1)	p.V403F(1)	kidney(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1207-1209)Gtc>Atc		NLR family, pyrin domain containing 12							159.0	154.0	156.0					19																	54313706		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313706C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1207G>A	19.37:g.54313706C>T	ENSP00000319377:p.Val403Ile					NLRP12_ENST00000535162.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V403I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V403I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V403I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V403I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V403I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V403I	p.V403I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1375	-	Ovarian(34;0.19)		403			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1207G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	7.302	0.613166	0.14066	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.64	3.59	0.41128	NACHT nucleoside triphosphatase (1);	0.000000	0.38897	N	0.001528	T	0.61590	0.2359	N	0.25332	0.735	0.80722	D	1	B;B;B;B	0.34255	0.257;0.301;0.445;0.354	B;B;B;B	0.22880	0.018;0.028;0.04;0.042	T	0.56080	-0.8038	10	0.22109	T	0.4	.	7.4752	0.27371	0.0:0.8:0.0:0.2	.	403;403;403;403	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	I	403	ENSP00000319377:V403I;ENSP00000438030:V403I;ENSP00000340473:V403I;ENSP00000346231:V403I;ENSP00000375655:V403I;ENSP00000375653:V403I;ENSP00000375652:V403I	ENSP00000319377:V403I	V	-	1	0	NLRP12	59005518	0.051000	0.20477	0.016000	0.15963	0.572000	0.35998	0.622000	0.24433	1.091000	0.41335	0.485000	0.47835	GTC		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		46	258	0	0	0	1	0	46	258				
OR5D18	219438	broad.mit.edu	37	11	55587459	55587459	+	Silent	SNP	G	G	A	rs375203569		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:55587459G>A	ENST00000333976.4	+	1	374	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	118			V -> M (in dbSNP:rs11231180).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATTAGCTGTGATGGCCTATG	0.443																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(352-354)gtG>gtA		olfactory receptor, family 5, subfamily D, member 18							163.0	160.0	161.0					11																	55587459		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587459G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.354G>A	11.37:g.55587459G>A							p.V118V	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	374	+		all_epithelial(135;0.208)	118		V -> M (in dbSNP:rs11231180).			Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.354G>A	CCDS31510.1																																																																																				0.443	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		32	174	0	0	0	1	0	32	174				
SPTA1	6708	broad.mit.edu	37	1	158650472	158650472	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:158650472G>A	ENST00000368147.4	-	5	759	c.579C>T	c.(577-579)acC>acT	p.T193T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	193					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGAACTTCGGTGCGCTCCC	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(577-579)acC>acT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							116.0	114.0	115.0					1																	158650472		1888	4127	6015	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650472G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.579C>T	1.37:g.158650472G>A						SPTA1_ENST00000368147.3_Silent_p.T193T	p.T193T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			5	759	-	all_hematologic(112;0.0378)		193					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.579C>T	CCDS41423.1																																																																																				0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	63	0	0	0	1	0	8	63				
SLC13A3	64849	broad.mit.edu	37	20	45224897	45224897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:45224897C>T	ENST00000279027.4	-	5	711	c.693G>A	c.(691-693)tgG>tgA	p.W231*	SLC13A3_ENST00000413164.2_Missense_Mutation_p.G209E|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000372121.1_Missense_Mutation_p.G209E|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W184*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	231					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAAGCCCTTCCAGATGTTCC	0.552																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(691-693)tgG>tgA		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						142.0	125.0	130.0					20																	45224897		2203	4300	6503	SO:0001587	stop_gained	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45224897C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.693G>A	20.37:g.45224897C>T	ENSP00000279027:p.Trp231*					SLC13A3_ENST00000413164.2_Missense_Mutation_p.G209E|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000372121.1_Missense_Mutation_p.G209E|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W184*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W184*	p.W231*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			5	711	-		Myeloproliferative disorder(115;0.0122)	231					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Nonsense_Mutation	SNP	ENST00000279027.4	37	c.693G>A	CCDS13400.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	7.275934|7.275934|7.275934	0.98182|0.98182|0.98182	.|.|.	.|.|.	ENSG00000158296|ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000413164;ENST00000420568;ENST00000372121|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915	.|T;T;T|.	.|0.09630|.	.|3.67;2.96;2.96|.	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|.	.|.|0.110767	.|.|0.64402	.|.|D	.|.|0.000003	T|T|.	0.53932|0.53932|.	0.1827|0.1827|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.10296|.	.|0.003|.	.|B|.	.|0.13407|.	.|0.009|.	T|T|.	0.42481|0.42481|.	-0.9449|-0.9449|.	4|8|.	.|0.72032|0.07813	.|D|T	.|0.01|0.8	-11.3676|-11.3676|-11.3676	19.6346|19.6346|19.6346	0.95724|0.95724|0.95724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|209|.	.|B4DIR8|.	.|.|.	K|E|X	61|209;172;209|184;184;231;184;184;184	.|ENSP00000415852:G209E;ENSP00000395095:G172E;ENSP00000361193:G209E|.	.|ENSP00000361193:G209E|ENSP00000279027:W231X	E|G|W	-|-|-	1|2|3	0|0|0	SLC13A3|SLC13A3|SLC13A3	44658304|44658304|44658304	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.955000|0.955000|0.955000	0.61496|0.61496|0.61496	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.641000|2.641000|2.641000	0.89580|0.89580|0.89580	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.552	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			13	122	0	0	0	1	0	13	122				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	22	0	0	0	1	0	4	22				
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Missense_Mutation	SNP	G	G	T	rs368789621		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57860075G>T	ENST00000228682.2	+	8	906	c.815G>T	c.(814-816)tGg>tTg	p.W272L	GLI1_ENST00000543426.1_Missense_Mutation_p.W144L|GLI1_ENST00000546141.1_Missense_Mutation_p.W231L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTGCCACTGGGGGGGCTGC	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)tGg>tTg		GLI family zinc finger 1							128.0	124.0	126.0					12																	57860075		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860075G>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.815G>T	12.37:g.57860075G>T	ENSP00000228682:p.Trp272Leu					GLI1_ENST00000543426.1_Missense_Mutation_p.W144L|GLI1_ENST00000546141.1_Missense_Mutation_p.W231L	p.W272L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.815G>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469908	0.63625	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000358	D	0.97867	0.9299	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99201	1.0873	10	0.87932	D	0	.	15.6904	0.77446	0.0:0.0:1.0:0.0	.	272	P08151	GLI1_HUMAN	L	144;144;272;231;231;144	ENSP00000436671:W144L;ENSP00000437607:W144L;ENSP00000228682:W272L;ENSP00000441006:W231L;ENSP00000434408:W231L	ENSP00000228682:W272L	W	+	2	0	GLI1	56146342	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	9.561000	0.98142	2.295000	0.77249	0.655000	0.94253	TGG		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		38	244	1	0	5.04308e-16	1	5.5609e-16	38	244				
OR51A7	119687	broad.mit.edu	37	11	4929490	4929490	+	Silent	SNP	A	A	G	rs145385072		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:4929490A>G	ENST00000359350.4	+	1	891	c.891A>G	c.(889-891)caA>caG	p.Q297Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACTCGACAAATCTGGGAGA	0.408																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(889-891)caA>caG		olfactory receptor, family 51, subfamily A, member 7		A		0,4402		0,0,2201	113.0	108.0	110.0		891	-1.2	0.1	11	dbSNP_134	110	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR51A7	NM_001004749.1		0,1,6498	GG,GA,AA		0.0116,0.0,0.0077		297/313	4929490	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929490A>G	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.891A>G	11.37:g.4929490A>G						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Q297Q	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	891	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	297					Q6IFH8	Silent	SNP	ENST00000359350.4	37	c.891A>G	CCDS31364.1																																																																																				0.408	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		8	90	0	0	0	1	0	8	90				
COL4A1	1282	broad.mit.edu	37	13	110831646	110831646	+	Silent	SNP	G	G	A	rs377593990		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:110831646G>A	ENST00000375820.4	-	30	2437	c.2316C>T	c.(2314-2316)atC>atT	p.I772I		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	772	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGGGGTCCGATCGCTCCAT	0.577																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2314-2316)atC>atT		collagen, type IV, alpha 1		G		2,4404	4.2+/-10.8	0,2,2201	88.0	93.0	91.0		2316	-7.8	0.0	13		91	0,8600		0,0,4300	no	coding-synonymous	COL4A1	NM_001845.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		772/1670	110831646	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110831646G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2316C>T	13.37:g.110831646G>A							p.I772I	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		30	2437	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	772			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.2316C>T	CCDS9511.1																																																																																				0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			41	115	0	0	0	1	0	41	115				
NEBL	10529	broad.mit.edu	37	10	21097543	21097543	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:21097543C>G	ENST00000377122.4	-	26	3053	c.2657G>C	c.(2656-2658)aGc>aCc	p.S886T	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	886	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAAGTACTGCTGGAATGGGA	0.443																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2656-2658)aGc>aCc		nebulette							143.0	133.0	136.0					10																	21097543		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21097543C>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2657G>C	10.37:g.21097543C>G	ENSP00000366326:p.Ser886Thr					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.S886T	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			26	3053	-			886			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2657G>C	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955519	0.53293	.	.	ENSG00000078114	ENST00000377122	T	0.04603	3.59	6.03	4.14	0.48551	.	0.357151	0.29307	N	0.012524	T	0.01558	0.0050	N	0.00707	-1.245	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.52480	-0.8570	10	0.23891	T	0.37	.	8.7349	0.34523	0.0:0.5725:0.3373:0.0902	.	886	O76041	NEBL_HUMAN	T	886	ENSP00000366326:S886T	ENSP00000366326:S886T	S	-	2	0	NEBL	21137549	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	3.426000	0.52778	1.558000	0.49541	0.557000	0.71058	AGC		0.443	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		10	88	0	0	0	1	0	10	88				
SACS	26278	broad.mit.edu	37	13	23912107	23912107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:23912107C>A	ENST00000382292.3	-	9	6181	c.5908G>T	c.(5908-5910)Gga>Tga	p.G1970*	SACS_ENST00000402364.1_Nonsense_Mutation_p.G1220*|SACS_ENST00000382298.3_Nonsense_Mutation_p.G1970*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1970					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCCCTTTTCCATGAGCTATA	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5908-5910)Gga>Tga		spastic ataxia of Charlevoix-Saguenay (sacsin)							61.0	64.0	63.0					13																	23912107		2203	4299	6502	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912107C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5908G>T	13.37:g.23912107C>A	ENSP00000371729:p.Gly1970*					SACS_ENST00000382292.3_Nonsense_Mutation_p.G1970*|SACS_ENST00000402364.1_Nonsense_Mutation_p.G1220*	p.G1970*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6496	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1970					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.5908G>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	55	23.908309	0.99958	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.93	5.1	0.69264	.	0.116737	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.6934	0.40143	0.0:0.8042:0.0:0.1958	.	.	.	.	X	1970;1220;1970	.	ENSP00000371729:G1970X	G	-	1	0	SACS	22810107	1.000000	0.71417	0.982000	0.44146	0.185000	0.23345	4.691000	0.61738	1.526000	0.49068	-0.229000	0.12294	GGA		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		3	42	1	0	1	1	1	3	42				
CCNJ	54619	broad.mit.edu	37	10	97816658	97816658	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:97816658G>A	ENST00000265992.5	+	4	848	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CCNJ_ENST00000465148.2_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	161						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGCAGTACACGAAACAGATCT	0.413																																						ENST00000265992.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(481-483)Gaa>Aaa		cyclin J							81.0	80.0	80.0					10																	97816658		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97816658G>A	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.481G>A	10.37:g.97816658G>A	ENSP00000265992:p.Glu161Lys					ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.E161K|CCNJ_ENST00000465148.2_Missense_Mutation_p.E161K|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	p.E161K	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	4	848	+			161					B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.481G>A	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667306	0.88348	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.22539	1.95;1.95;1.95	5.42	5.42	0.78866	Cyclin, C-terminal (1);Cyclin-like (2);	0.042180	0.85682	D	0.000000	T	0.26702	0.0653	L	0.38175	1.15	0.80722	D	1	D;D;D	0.55385	0.964;0.964;0.971	P;P;P	0.48873	0.458;0.458;0.593	T	0.00501	-1.1702	10	0.42905	T	0.14	-13.2233	18.3376	0.90294	0.0:0.0:1.0:0.0	.	161;161;161	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	K	161	ENSP00000265992:E161K;ENSP00000384498:E161K;ENSP00000441415:E161K	ENSP00000265992:E161K	E	+	1	0	CCNJ	97806648	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.864000	0.99589	2.690000	0.91761	0.650000	0.86243	GAA		0.413	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		14	65	0	0	0	1	0	14	65				
GLRA3	8001	broad.mit.edu	37	4	175598261	175598261	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:175598261G>C	ENST00000274093.3	-	7	1397	c.895C>G	c.(895-897)Cag>Gag	p.Q299E	GLRA3_ENST00000340217.5_Missense_Mutation_p.Q299E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	299					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CCTGAACTCTGTGTAGTCATC	0.448																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(895-897)Cag>Gag		glycine receptor, alpha 3	Glycine(DB00145)						101.0	80.0	87.0					4																	175598261		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598261G>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.895C>G	4.37:g.175598261G>C	ENSP00000274093:p.Gln299Glu					GLRA3_ENST00000340217.5_Missense_Mutation_p.Q299E	p.Q299E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	7	1397	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	299					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.895C>G	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763164	0.49574	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.85339	-1.97;-1.97	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	L	0.58969	1.84	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.68621	0.931;0.959	D	0.91444	0.5176	10	0.62326	D	0.03	.	18.4194	0.90584	0.0:0.0:1.0:0.0	.	299;299	O75311-2;O75311	.;GLRA3_HUMAN	E	299	ENSP00000274093:Q299E;ENSP00000345284:Q299E	ENSP00000274093:Q299E	Q	-	1	0	GLRA3	175834836	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.658000	0.98594	2.415000	0.81967	0.650000	0.86243	CAG		0.448	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			3	33	0	0	0	1	0	3	33				
SCAPER	49855	broad.mit.edu	37	15	77092692	77092692	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:77092692C>T	ENST00000563290.1	-	7	603	c.508G>A	c.(508-510)Gca>Aca	p.A170T	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.A170T|SCAPER_ENST00000562890.1_5'Flank			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	170						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTTCCCATGCCAATGATGTT	0.363																																						ENST00000563290.1																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(508-510)Gca>Aca		S-phase cyclin A-associated protein in the ER							116.0	103.0	107.0					15																	77092692		1837	4089	5926	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77092692C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.508G>A	15.37:g.77092692C>T	ENSP00000454973:p.Ala170Thr					SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.A170T	p.A170T			Q9BY12	SCAPE_HUMAN			7	603	-			169					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.508G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759936	0.89932	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.38722	1.12	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;0.986	D;D	0.76575	0.988;0.924	T	0.64063	-0.6495	10	0.49607	T	0.09	.	18.4362	0.90646	0.0:1.0:0.0:0.0	.	170;185	Q6NSF1;Q9BY12-2	.;.	T	170;186	ENSP00000326924:A170T	ENSP00000303560:A186T	A	-	1	0	SCAPER	74879747	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.439000	0.80444	2.332000	0.79248	0.650000	0.86243	GCA		0.363	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		3	30	0	0	0	1	0	3	30				
SCYL2	55681	broad.mit.edu	37	12	100709390	100709390	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:100709390G>A	ENST00000360820.2	+	9	1587	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	384					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTAAACCCTGACATGGTACC	0.328																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1150-1152)Gac>Aac		SCY1-like 2 (S. cerevisiae)							105.0	101.0	102.0					12																	100709390		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100709390G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1150G>A	12.37:g.100709390G>A	ENSP00000354061:p.Asp384Asn						p.D384N	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			9	1587	+			384					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1150G>A	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108430	0.77096	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.34072	1.38;1.38	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.55481	1.735	0.80722	D	1	B	0.33777	0.425	B	0.34385	0.181	T	0.09796	-1.0658	10	0.21014	T	0.42	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	384	Q6P3W7	SCYL2_HUMAN	N	384;211;384	ENSP00000448366:D384N;ENSP00000354061:D384N	ENSP00000258506:D211N	D	+	1	0	SCYL2	99233521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	GAC		0.328	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		7	68	0	0	0	1	0	7	68				
TTPAL	79183	broad.mit.edu	37	20	43108867	43108867	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:43108867C>T	ENST00000372904.3	+	3	371	c.228C>T	c.(226-228)ctC>ctT	p.L76L	TTPAL_ENST00000372906.2_Silent_p.L76L|TTPAL_ENST00000262605.4_Silent_p.L76L	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	76						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GCACATCCCTCGACGATGCCT	0.597																																						ENST00000372904.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.(226-228)ctC>ctT		tocopherol (alpha) transfer protein-like							109.0	69.0	83.0					20																	43108867		2203	4300	6503	SO:0001819	synonymous_variant	79183					intracellular	transporter activity	g.chr20:43108867C>T	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.228C>T	20.37:g.43108867C>T						TTPAL_ENST00000262605.4_Silent_p.L76L|TTPAL_ENST00000372906.2_Silent_p.L76L	p.L76L	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN			3	371	+			76					E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	c.228C>T	CCDS13332.2																																																																																				0.597	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		7	52	0	0	0	1	0	7	52				
RBFOX2	23543	broad.mit.edu	37	22	36142542	36142542	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:36142542C>T	ENST00000438146.2	-	12	1215	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	RBFOX2_ENST00000449924.2_Missense_Mutation_p.A335T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A313T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A312T|RBFOX2_ENST00000405409.2_Silent_p.P318P|RBFOX2_ENST00000359369.4_Silent_p.P321P|RBFOX2_ENST00000414461.2_Silent_p.P321P|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A331T	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	345					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						gcggctgcagcggctgcagca	0.527																																						ENST00000449924.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(1003-1005)Gct>Act		RNA binding protein, fox-1 homolog (C. elegans) 2							54.0	54.0	54.0					22																	36142542		2200	4288	6488	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36142542C>T	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.1216G>A	22.37:g.36142542C>T	ENSP00000413035:p.Ala406Thr					RBFOX2_ENST00000262829.7_Missense_Mutation_p.A313T|RBFOX2_ENST00000414461.2_Silent_p.P321P|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A406T|RBFOX2_ENST00000359369.4_Silent_p.P321P|RBFOX2_ENST00000405409.2_Silent_p.P318P|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A312T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A331T	p.A335T			O43251	RFOX2_HUMAN			11	1191	-			345			Ala-rich.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.1003G>A	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813527	0.50527	.	.	ENSG00000100320	ENST00000449924;ENST00000262829;ENST00000397303;ENST00000416721;ENST00000438146	T;T;T;T	0.60040	0.28;0.78;0.73;0.22	5.15	5.15	0.70609	.	0.160602	0.56097	D	0.000039	T	0.60366	0.2263	.	.	.	0.58432	D	0.999996	P;B;P;P;B;B	0.47106	0.507;0.341;0.89;0.89;0.013;0.019	B;B;B;B;B;B	0.43445	0.03;0.029;0.42;0.399;0.012;0.017	T	0.67106	-0.5754	9	0.87932	D	0	.	18.8172	0.92081	0.0:1.0:0.0:0.0	.	405;406;313;331;335;312	O43251-6;O43251-8;O43251-3;O43251-5;O43251-10;B0QYV1	.;.;.;.;.;.	T	335;313;312;331;406	ENSP00000391670:A335T;ENSP00000380470:A312T;ENSP00000405651:A331T;ENSP00000413035:A406T	ENSP00000262829:A313T	A	-	1	0	RBFOX2	34472488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.868000	0.56055	2.677000	0.91161	0.561000	0.74099	GCT		0.527	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			16	78	0	0	0	1	0	16	78				
ZSCAN22	342945	broad.mit.edu	37	19	58846413	58846413	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:58846413C>T	ENST00000329665.4	+	2	392	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAGCCCGAGGCGCACTCCAAG	0.667																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(244-246)gCg>gTg		zinc finger and SCAN domain containing 22							37.0	39.0	38.0					19																	58846413		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846413C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.245C>T	19.37:g.58846413C>T	ENSP00000332433:p.Ala82Val						p.A82V	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	392	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	82			SCAN box.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.245C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.678775	0.00751	.	.	ENSG00000182318	ENST00000329665	T	0.03920	3.76	4.01	-7.89	0.01174	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01800	0.0057	N	0.01618	-0.8	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51196	-0.8736	9	0.27082	T	0.32	.	13.8897	0.63731	0.0:0.182:0.0:0.818	.	82	P10073	ZSC22_HUMAN	V	82	ENSP00000332433:A82V	ENSP00000332433:A82V	A	+	2	0	ZSCAN22	63538225	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-4.681000	0.00199	-1.552000	0.01704	-0.423000	0.05987	GCG		0.667	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		5	73	0	0	0	1	0	5	73				
TAOK2	9344	broad.mit.edu	37	16	29998227	29998227	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:29998227G>A	ENST00000308893.4	+	16	3677	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.E705E|TAOK2_ENST00000543033.1_Silent_p.E765E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	878	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGGAGGATGAGAGTCTTCTGG	0.597																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2632-2634)gaG>gaA		TAO kinase 2							91.0	90.0	90.0					16																	29998227		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998227G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2634G>A	16.37:g.29998227G>A						TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.E705E|TAOK2_ENST00000543033.1_Silent_p.E765E	p.E878E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3677	+			878			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.2634G>A	CCDS10663.1																																																																																				0.597	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		10	52	0	0	0	1	0	10	52				
COL19A1	1310	broad.mit.edu	37	6	70812088	70812088	+	Missense_Mutation	SNP	G	G	A	rs574363456		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:70812088G>A	ENST00000322773.4	+	16	1354	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G40R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	418	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGACCTCCCGGAAAACCAGG	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18566	0.0		0.0	False		,,,				2504	0.0					ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(1252-1254)Gga>Aga		collagen, type XIX, alpha 1							101.0	105.0	104.0					6																	70812088		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70812088G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1252G>A	6.37:g.70812088G>A	ENSP00000316030:p.Gly418Arg					COL19A1_ENST00000393344.1_Missense_Mutation_p.G40R	p.G418R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			16	1354	+			418			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1252G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508135	0.44660	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99637	-6.29;-6.29	5.33	5.33	0.75918	.	0.148000	0.42172	D	0.000752	D	0.99822	0.9921	H	0.98005	4.125	0.40431	D	0.979944	D	0.76494	0.999	D	0.67548	0.952	D	0.97081	0.9784	10	0.87932	D	0	.	17.5668	0.87922	0.0:0.0:1.0:0.0	.	418	Q14993	COJA1_HUMAN	R	418;40	ENSP00000316030:G418R;ENSP00000377013:G40R	ENSP00000316030:G418R	G	+	1	0	COL19A1	70868809	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.013000	0.70776	2.657000	0.90304	0.561000	0.74099	GGA		0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			8	79	0	0	0	1	0	8	79				
C20orf194	25943	broad.mit.edu	37	20	3262362	3262362	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:3262362G>C	ENST00000252032.9	-	28	2604	c.2537C>G	c.(2536-2538)tCa>tGa	p.S846*	RN7SL839P_ENST00000582912.1_RNA|C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	846										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTTGACATTTGAGTCTGGGTG	0.488																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2536-2538)tCa>tGa		chromosome 20 open reading frame 194							120.0	117.0	118.0					20																	3262362		2011	4187	6198	SO:0001587	stop_gained	25943							g.chr20:3262362G>C	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2537C>G	20.37:g.3262362G>C	ENSP00000252032:p.Ser846*					C20orf194_ENST00000453730.2_3'UTR	p.S846*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			28	2604	-			846					Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	37	c.2537C>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	41	8.583599	0.98872	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.45	5.45	0.79879	.	0.378960	0.26170	N	0.025923	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.878	0.92346	0.0:0.0:1.0:0.0	.	.	.	.	X	846	.	ENSP00000252032:S846X	S	-	2	0	C20orf194	3210362	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	6.925000	0.75829	2.575000	0.86900	0.484000	0.47621	TCA		0.488	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		8	97	0	0	0	1	0	8	97				
GFPT2	9945	broad.mit.edu	37	5	179743800	179743800	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:179743800C>G	ENST00000253778.8	-	12	1285	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	372	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CACAGCCAATCACGATGAGCC	0.572																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1114-1116)gtG>gtC		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						41.0	43.0	42.0					5																	179743800		2127	4229	6356	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179743800C>G	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1116G>C	5.37:g.179743800C>G						GFPT2_ENST00000520165.1_5'UTR	p.V372V	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1285	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	372			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1116G>C	CCDS43411.1																																																																																				0.572	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		4	41	0	0	0	1	0	4	41				
TMED3	23423	broad.mit.edu	37	15	79606257	79606257	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:79606257C>G	ENST00000299705.5	+	2	515	c.327C>G	c.(325-327)ttC>ttG	p.F109L	TMED3_ENST00000536821.1_Missense_Mutation_p.F109L|TMED3_ENST00000424155.2_Missense_Mutation_p.F109L	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	109	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						TTTCCACCTTCTCTCACAAGA	0.502																																						ENST00000299705.5																			0				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						c.(325-327)ttC>ttG		transmembrane emp24 protein transport domain containing 3							159.0	142.0	148.0					15																	79606257		2196	4293	6489	SO:0001583	missense	23423				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane		g.chr15:79606257C>G	BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.327C>G	15.37:g.79606257C>G	ENSP00000299705:p.Phe109Leu					TMED3_ENST00000424155.2_Missense_Mutation_p.F109L|TMED3_ENST00000536821.1_Missense_Mutation_p.F109L	p.F109L	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN			2	515	+			109			GOLD.		A8K069|B4DN05|Q2T9F8	Missense_Mutation	SNP	ENST00000299705.5	37	c.327C>G	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171325	0.78452	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.7	2.73	0.32206	GOLD (3);	0.122179	0.56097	D	0.000033	T	0.46014	0.1371	L	0.56280	1.765	0.54753	D	0.999987	P;B	0.42123	0.771;0.41	P;P	0.51550	0.673;0.579	T	0.34675	-0.9819	10	0.40728	T	0.16	-2.858	7.9395	0.29950	0.0:0.7781:0.0:0.2219	.	109;109	B4DN05;Q9Y3Q3	.;TMED3_HUMAN	L	109	ENSP00000299705:F109L;ENSP00000414983:F109L;ENSP00000446062:F109L;ENSP00000440228:F109L	ENSP00000299705:F109L	F	+	3	2	TMED3	77393312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.974000	0.29436	1.234000	0.43709	0.655000	0.94253	TTC		0.502	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364		21	86	0	0	0	1	0	21	86				
OR5M3	219482	broad.mit.edu	37	11	56237209	56237209	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:56237209G>A	ENST00000312240.2	-	1	805	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F255L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAGATACATGAAGATCAGAG	0.493																																						ENST00000312240.2																			1	Substitution - Missense(1)	p.F255L(1)	skin(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(763-765)ttC>ttT		olfactory receptor, family 5, subfamily M, member 3							40.0	39.0	40.0					11																	56237209		2200	4295	6495	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237209G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.765C>T	11.37:g.56237209G>A							p.F255F	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	805	-	Esophageal squamous(21;0.00448)		255					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.765C>T	CCDS31532.1																																																																																				0.493	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		6	56	0	0	0	1	0	6	56				
HTRA4	203100	broad.mit.edu	37	8	38834102	38834102	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:38834102C>T	ENST00000302495.4	+	3	715	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	205	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCTCTGGGTTCATAGTGTCTG	0.507																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(613-615)ttC>ttT		HtrA serine peptidase 4							145.0	132.0	136.0					8																	38834102		2203	4300	6503	SO:0001819	synonymous_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38834102C>T	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.615C>T	8.37:g.38834102C>T							p.F205F	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	715	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	205			Serine protease.		Q542Z4|Q6PF13	Silent	SNP	ENST00000302495.4	37	c.615C>T	CCDS6110.1																																																																																				0.507	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		9	79	0	0	0	1	0	9	79				
TMEM31	203562	broad.mit.edu	37	X	102968693	102968693	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:102968693G>C	ENST00000319560.6	+	3	465	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	92						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(274-276)Gag>Cag		transmembrane protein 31							276.0	213.0	234.0					X																	102968693		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968693G>C	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.274G>C	X.37:g.102968693G>C	ENSP00000316940:p.Glu92Gln					GLRA4_ENST00000372617.4_Intron	p.E92Q	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN			3	465	+			92					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.274G>C	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	G	5.886	0.347540	0.11126	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.81	2.08	0.27032	.	0.491581	0.15291	N	0.270143	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20042	-1.0287	9	0.22109	T	0.4	.	3.8061	0.08777	0.0:0.5559:0.2132:0.2309	.	92	Q5JXX7	TMM31_HUMAN	Q	92	.	ENSP00000316940:E92Q	E	+	1	0	TMEM31	102855349	0.895000	0.30542	0.074000	0.20217	0.006000	0.05464	0.407000	0.21049	0.547000	0.28938	-0.223000	0.12442	GAG		0.453	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		28	155	0	0	0	1	0	28	155				
NRN1L	123904	broad.mit.edu	37	16	67919692	67919692	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:67919692C>T	ENST00000339176.3	+	2	246	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_5'UTR	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	49					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		ACCAGGGCTTCGCCGAGTGTC	0.652																																						ENST00000339176.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(145-147)ttC>ttT		neuritin 1-like							57.0	57.0	57.0					16																	67919692		2198	4300	6498	SO:0001819	synonymous_variant	123904					anchored to membrane|plasma membrane		g.chr16:67919692C>T	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.147C>T	16.37:g.67919692C>T						CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_5'UTR	p.F49F	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	2	246	+		Ovarian(137;0.192)	49					Q6UWH7	Silent	SNP	ENST00000339176.3	37	c.147C>T	CCDS10850.1																																																																																				0.652	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		17	89	0	0	0	1	0	17	89				
AHNAK	79026	broad.mit.edu	37	11	62293071	62293071	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62293071C>G	ENST00000378024.4	-	5	9092	c.8818G>C	c.(8818-8820)Gaa>Caa	p.E2940Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2940					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGTCCTTCAATGTTAACA	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8818-8820)Gaa>Caa		AHNAK nucleoprotein							155.0	163.0	160.0					11																	62293071		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293071C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8818G>C	11.37:g.62293071C>G	ENSP00000367263:p.Glu2940Gln					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E2940Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9092	-		Melanoma(852;0.155)	2940					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8818G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	16.21	3.059527	0.55325	.	.	ENSG00000124942	ENST00000378024	T	0.01685	4.69	3.13	3.13	0.36017	.	0.287416	0.18955	U	0.126572	T	0.09555	0.0235	M	0.84948	2.725	0.35076	D	0.762929	D	0.76494	0.999	D	0.71414	0.973	T	0.42899	-0.9424	10	0.15499	T	0.54	-19.964	14.2045	0.65725	0.0:1.0:0.0:0.0	.	2940	Q09666	AHNK_HUMAN	Q	2940	ENSP00000367263:E2940Q	ENSP00000367263:E2940Q	E	-	1	0	AHNAK	62049647	.	.	0.877000	0.34402	0.936000	0.57629	.	.	1.465000	0.48006	0.394000	0.25966	GAA		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		56	268	0	0	0	1	0	56	268				
IWS1	55677	broad.mit.edu	37	2	128263003	128263003	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:128263003G>C	ENST00000295321.4	-	3	735	c.476C>G	c.(475-477)tCt>tGt	p.S159C	IWS1_ENST00000455721.2_Missense_Mutation_p.S166C|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	159	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCAATCTCAGAATCACTGGC	0.463																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(475-477)tCt>tGt		IWS1 homolog (S. cerevisiae)							91.0	97.0	95.0					2																	128263003		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128263003G>C	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.476C>G	2.37:g.128263003G>C	ENSP00000295321:p.Ser159Cys					IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.S166C	p.S159C	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	735	-	Colorectal(110;0.1)		159			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.476C>G	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334786	0.60853	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.35236	1.36;1.32	5.4	5.4	0.78164	.	0.205896	0.33854	N	0.004495	T	0.59756	0.2217	M	0.64997	1.995	0.37719	D	0.924832	D	0.89917	1.0	D	0.73380	0.98	T	0.64419	-0.6412	10	0.66056	D	0.02	-3.9751	19.5254	0.95203	0.0:0.0:1.0:0.0	.	159	Q96ST2	IWS1_HUMAN	C	159;112;166;164	ENSP00000295321:S159C;ENSP00000399245:S166C	ENSP00000295321:S159C	S	-	2	0	IWS1	127979473	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.716000	0.68437	2.676000	0.91093	0.591000	0.81541	TCT		0.463	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		20	79	0	0	0	1	0	20	79				
CXorf58	254158	broad.mit.edu	37	X	23934385	23934385	+	Silent	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:23934385T>C	ENST00000379211.3	+	5	912	c.363T>C	c.(361-363)caT>caC	p.H121H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	121										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTTTCTTCATACTGATGGCC	0.318																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(361-363)caT>caC		chromosome X open reading frame 58							113.0	98.0	104.0					X																	23934385		2202	4298	6500	SO:0001819	synonymous_variant	254158							g.chrX:23934385T>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.363T>C	X.37:g.23934385T>C							p.H121H	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			5	912	+			121						Silent	SNP	ENST00000379211.3	37	c.363T>C	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	t	4.637	0.118335	0.08881	.	.	ENSG00000165182	ENST00000435707	.	.	.	5.0	-4.85	0.03142	.	.	.	.	.	T	0.19846	0.0477	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28299	-1.0048	4	.	.	.	-3.7984	3.9903	0.09533	0.392:0.3149:0.0:0.2931	.	.	.	.	H	95	.	.	Y	+	1	0	CXorf58	23844306	0.011000	0.17503	0.001000	0.08648	0.806000	0.45545	-0.301000	0.08232	-1.013000	0.03383	0.336000	0.21669	TAC		0.318	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		7	19	0	0	0	1	0	7	19				
KIF4A	24137	broad.mit.edu	37	X	69622516	69622516	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:69622516A>G	ENST00000374403.3	+	23	2672	c.2590A>G	c.(2590-2592)Aag>Gag	p.K864E	KIF4A_ENST00000374388.3_Missense_Mutation_p.K864E	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	864	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGGAAGCCAAGTGTGCCCT	0.463																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2590-2592)Aag>Gag		kinesin family member 4A							84.0	65.0	72.0					X																	69622516		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69622516A>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2590A>G	X.37:g.69622516A>G	ENSP00000363524:p.Lys864Glu					KIF4A_ENST00000374388.3_Missense_Mutation_p.K864E	p.K864E	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			23	2672	+			864			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2590A>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	a	24.8	4.570251	0.86542	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.74315	-0.81;-0.83	5.06	5.06	0.68205	.	0.203385	0.34507	N	0.003909	D	0.86155	0.5865	M	0.84082	2.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.87485	0.2423	9	.	.	.	.	13.0136	0.58745	1.0:0.0:0.0:0.0	.	864	O95239	KIF4A_HUMAN	E	864;864;166	ENSP00000363509:K864E;ENSP00000363524:K864E	.	K	+	1	0	KIF4A	69539241	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.437000	0.90302	1.866000	0.54105	0.483000	0.47432	AAG		0.463	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		6	24	0	0	0	1	0	6	24				
ACVR1C	130399	broad.mit.edu	37	2	158397619	158397619	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:158397619C>T	ENST00000243349.8	-	7	1568	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246Q|ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323Q|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353Q	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGAACACCTCCGGGCTATTTC	0.388																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1207-1209)cGg>cAg		activin A receptor, type IC							121.0	123.0	122.0					2																	158397619		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397619C>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1208G>A	2.37:g.158397619C>T	ENSP00000243349:p.Arg403Gln					ACVR1C_ENST00000335450.7_Missense_Mutation_p.R323Q|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R353Q|ACVR1C_ENST00000348328.5_Missense_Mutation_p.R246Q	p.R403Q	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1568	-			403			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1208G>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821401	0.90873	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000292	D	0.96815	0.8960	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.977;0.985;0.991	D	0.97187	0.9855	10	0.87932	D	0	.	18.908	0.92471	0.0:1.0:0.0:0.0	.	246;323;403	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	Q	403;353;246;323	ENSP00000243349:R403Q;ENSP00000387168:R353Q;ENSP00000335139:R246Q;ENSP00000335178:R323Q	ENSP00000243349:R403Q	R	-	2	0	ACVR1C	158105865	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	7.776000	0.85560	2.630000	0.89119	0.591000	0.81541	CGG		0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		11	72	0	0	0	1	0	11	72				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	23666							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	79	0	0	0	1	0	4	79				
MICALL2	79778	broad.mit.edu	37	7	1498917	1498917	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:1498917C>G	ENST00000297508.7	-	1	221	c.46G>C	c.(46-48)Gag>Cag	p.E16Q	AC102953.4_ENST00000445345.1_RNA|MICALL2_ENST00000405088.4_Missense_Mutation_p.E16Q	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	16	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CGGTAGCCCTCGCACTGCTGC	0.701																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(46-48)Gag>Cag		MICAL-like 2							53.0	46.0	48.0					7																	1498917		2196	4299	6495	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1498917C>G	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.46G>C	7.37:g.1498917C>G	ENSP00000297508:p.Glu16Gln					MICALL2_ENST00000405088.4_Missense_Mutation_p.E16Q	p.E16Q	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	1	221	-		Ovarian(82;0.0253)	16			CH.		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.46G>C	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436371	0.62955	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;D	0.95272	2.06;-3.66	3.76	3.76	0.43208	Calponin homology domain (5);	.	.	.	.	D	0.93966	0.8068	L	0.43757	1.38	0.22591	N	0.998952	B	0.28291	0.206	B	0.43990	0.438	D	0.89414	0.3705	9	0.54805	T	0.06	.	12.0318	0.53401	0.0:0.8237:0.1763:0.0	.	16	Q8IY33	MILK2_HUMAN	Q	16	ENSP00000385928:E16Q;ENSP00000297508:E16Q	ENSP00000297508:E16Q	E	-	1	0	MICALL2	1465443	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.553000	0.67287	1.640000	0.50565	0.313000	0.20887	GAG		0.701	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		4	22	0	0	0	1	0	4	22				
TECTA	7007	broad.mit.edu	37	11	120989412	120989412	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:120989412C>T	ENST00000392793.1	+	7	1459	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	TECTA_ENST00000264037.2_Silent_p.S396S			O75443	TECTA_HUMAN	tectorin alpha	396	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCAAAGGAAGCTATGGAAGAG	0.522																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1186-1188)agC>agT		tectorin alpha							60.0	64.0	62.0					11																	120989412		2202	4298	6500	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989412C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1188C>T	11.37:g.120989412C>T						TECTA_ENST00000264037.2_Silent_p.S396S	p.S396S			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1459	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	396			VWFD 1.			Silent	SNP	ENST00000392793.1	37	c.1188C>T	CCDS8434.1																																																																																				0.522	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		23	77	0	0	0	1	0	23	77				
CRAT	1384	broad.mit.edu	37	9	131870200	131870200	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:131870200C>G	ENST00000318080.2	-	2	478	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000464290.1_5'UTR|CRAT_ENST00000393384.3_Missense_Mutation_p.E62Q	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	62					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGGGCCCACTCCTCCTCACTC	0.657																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(184-186)Gag>Cag		carnitine O-acetyltransferase	L-Carnitine(DB00583)						87.0	81.0	83.0					9																	131870200		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131870200C>G	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.184G>C	9.37:g.131870200C>G	ENSP00000315013:p.Glu62Gln					CRAT_ENST00000393384.3_Missense_Mutation_p.E62Q|CRAT_ENST00000464290.1_5'UTR	p.E62Q	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	2	478	-			62					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.184G>C	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.774027	0.90108	.	.	ENSG00000095321	ENST00000351352;ENST00000318080;ENST00000393384	T;T	0.51325	0.71;0.71	5.23	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.53617	1.68	0.58432	D	0.999998	P;D	0.59767	0.927;0.986	P;P	0.58620	0.842;0.764	T	0.53012	-0.8498	10	0.25106	T	0.35	-47.0116	14.1226	0.65198	0.1512:0.8488:0.0:0.0	.	62;62	A6PVN3;P43155	.;CACP_HUMAN	Q	62	ENSP00000315013:E62Q;ENSP00000377045:E62Q	ENSP00000315013:E62Q	E	-	1	0	CRAT	130910021	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.822000	0.62686	1.155000	0.42497	0.457000	0.33378	GAG		0.657	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			10	74	0	0	0	1	0	10	74				
KIAA2022	340533	broad.mit.edu	37	X	73960759	73960759	+	Silent	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:73960759T>A	ENST00000055682.6	-	3	4244	c.3633A>T	c.(3631-3633)ccA>ccT	p.P1211P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1211					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTTGCCAGGTGGTTTTTCAA	0.468																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3631-3633)ccA>ccT		KIAA2022							85.0	80.0	82.0					X																	73960759		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960759T>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3633A>T	X.37:g.73960759T>A						KIAA2022_ENST00000055682.5_Silent_p.P1211P	p.P1211P			Q5QGS0	K2022_HUMAN			3	4284	-			1211					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.3633A>T	CCDS35337.1																																																																																				0.468	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		7	54	0	0	0	1	0	7	54				
SI	6476	broad.mit.edu	37	3	164748501	164748501	+	Splice_Site	SNP	G	G	A	rs369115304		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:164748501G>A	ENST00000264382.3	-	25	2953	c.2891C>T	c.(2890-2892)aCg>aTg	p.T964M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	964	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TATTATTACCGTTCTCCATAC	0.299										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.e25+1		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						93.0	100.0	98.0					3																	164748501		2201	4296	6497	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164748501G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2892+1C>T	3.37:g.164748501G>A		HNSCC(35;0.089)					p.T964_splice	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			25	2953	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	964			Isomaltase.|P-type 2.		A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	ENST00000264382.3	37	c.2892_splice	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965802	0.34659	.	.	ENSG00000090402	ENST00000264382	T	0.55234	0.53	4.6	-2.73	0.05950	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	2.243890	0.01314	N	0.010739	T	0.51924	0.1703	L	0.50333	1.59	0.09310	N	0.999999	P	0.47409	0.895	B	0.43990	0.438	T	0.56505	-0.7968	10	0.66056	D	0.02	.	10.5476	0.45068	0.0769:0.0:0.1806:0.7425	.	964	P14410	SUIS_HUMAN	M	964	ENSP00000264382:T964M	ENSP00000264382:T964M	T	-	2	0	SI	166231195	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-1.130000	0.03241	-0.891000	0.03940	-0.311000	0.09066	ACG		0.299	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	27	44	0	0	0	1	0	27	44				
ARMCX2	9823	broad.mit.edu	37	X	100911996	100911996	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:100911996C>T	ENST00000328766.5	-	5	1032	c.579G>A	c.(577-579)gtG>gtA	p.V193V	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.V193V|ARMCX2_ENST00000356824.4_Silent_p.V193V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	193	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GACCCTCGGTCACCTCAGTGG	0.652																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(577-579)gtG>gtA		armadillo repeat containing, X-linked 2							25.0	24.0	24.0					X																	100911996		2192	4268	6460	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911996C>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.579G>A	X.37:g.100911996C>T						ARMCX2_ENST00000356824.4_Silent_p.V193V|ARMCX2_ENST00000330154.2_Silent_p.V193V	p.V193V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1032	-			193			Ala-rich.		O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.579G>A	CCDS14490.1																																																																																				0.652	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		16	63	0	0	0	1	0	16	63				
OR6N1	128372	broad.mit.edu	37	1	158735784	158735784	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:158735784G>C	ENST00000335094.2	-	1	708	c.689C>G	c.(688-690)tCa>tGa	p.S230*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCCGGCAGCTGAGGGAATTCT	0.498																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(688-690)tCa>tGa		olfactory receptor, family 6, subfamily N, member 1							132.0	129.0	130.0					1																	158735784		2203	4300	6503	SO:0001587	stop_gained	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735784G>C	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.689C>G	1.37:g.158735784G>C	ENSP00000335535:p.Ser230*						p.S230*	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	708	-	all_hematologic(112;0.0378)		230					Q5VUU8|Q96R35	Nonsense_Mutation	SNP	ENST00000335094.2	37	c.689C>G	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493519	0.44352	.	.	ENSG00000197403	ENST00000335094	.	.	.	4.89	4.89	0.63831	.	0.000000	0.38663	N	0.001613	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.0548	16.9793	0.86323	0.0:0.0:1.0:0.0	.	.	.	.	X	230	.	ENSP00000335535:S230X	S	-	2	0	OR6N1	157002408	0.164000	0.22935	0.630000	0.29268	0.055000	0.15305	3.072000	0.50049	2.513000	0.84729	0.655000	0.94253	TCA		0.498	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		22	116	0	0	0	1	0	22	116				
DCAF6	55827	broad.mit.edu	37	1	167944229	167944229	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:167944229G>A	ENST00000312263.6	+	4	618	c.414G>A	c.(412-414)acG>acA	p.T138T	DCAF6_ENST00000432587.2_Silent_p.T107T|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.T138T|DCAF6_ENST00000367840.3_Silent_p.T138T	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	138					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCCAATTTACGTGTCATTATG	0.313																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(412-414)acG>acA		DDB1 and CUL4 associated factor 6							113.0	107.0	109.0					1																	167944229		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167944229G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.414G>A	1.37:g.167944229G>A						DCAF6_ENST00000432587.2_Silent_p.T107T|DCAF6_ENST00000367843.3_Silent_p.T138T|DCAF6_ENST00000312263.6_Silent_p.T138T|DCAF6_ENST00000470919.1_3'UTR	p.T138T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			4	508	+			138					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.414G>A	CCDS30933.1																																																																																				0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		12	64	0	0	0	1	0	12	64				
OR51I2	390064	broad.mit.edu	37	11	5474743	5474743	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:5474743C>G	ENST00000341449.2	+	1	106	c.25C>G	c.(25-27)Cct>Gct	p.P9A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	9					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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCACTCACCCTGCATTCTT	0.507																																						ENST00000341449.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29						c.(25-27)Cct>Gct		olfactory receptor, family 51, subfamily I, member 2							140.0	118.0	126.0					11																	5474743		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474743C>G	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.25C>G	11.37:g.5474743C>G	ENSP00000341987:p.Pro9Ala					HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.P9A	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	106	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	9					Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.25C>G	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896703	0.33535	.	.	ENSG00000187918	ENST00000341449	T	0.00304	8.19	5.58	3.62	0.41486	.	0.090866	0.48767	D	0.000162	T	0.00356	0.0011	L	0.38692	1.165	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.61501	-0.7050	10	0.32370	T	0.25	.	8.8559	0.35227	0.2566:0.4847:0.2587:0.0	.	9	Q9H344	O51I2_HUMAN	A	9	ENSP00000341987:P9A	ENSP00000341987:P9A	P	+	1	0	OR51I2	5431319	0.001000	0.12720	0.579000	0.28588	0.760000	0.43138	0.470000	0.22084	1.573000	0.49748	0.655000	0.94253	CCT		0.507	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		6	68	0	0	0	1	0	6	68				
STRN4	29888	broad.mit.edu	37	19	47228847	47228847	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:47228847G>A	ENST00000263280.6	-	10	1356	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Missense_Mutation_p.S317L|STRN4_ENST00000391910.3_Missense_Mutation_p.S443L	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	436						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GTCGTAGTGCGAGCGCAGGGT	0.602																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1327-1329)tCg>tTg		striatin, calmodulin binding protein 4							108.0	106.0	107.0					19																	47228847		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228847G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1307C>T	19.37:g.47228847G>A	ENSP00000263280:p.Ser436Leu					STRN4_ENST00000539396.1_Missense_Mutation_p.S317L|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.S436L	p.S443L			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1778	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	436					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1328C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685901	0.88639	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.60424	0.19;0.19;0.19	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.140928	0.48767	D	0.000166	T	0.70850	0.3271	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73363	-0.4006	10	0.72032	D	0.01	-9.5649	12.0928	0.53737	0.0:0.2971:0.7028:0.0	.	443;436	F8VYA6;Q9NRL3	.;STRN4_HUMAN	L	443;436;317	ENSP00000375777:S443L;ENSP00000263280:S436L;ENSP00000440901:S317L	ENSP00000263280:S436L	S	-	2	0	STRN4	51920687	1.000000	0.71417	0.994000	0.49952	0.864000	0.49448	6.583000	0.74053	2.290000	0.77057	0.561000	0.74099	TCG		0.602	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			12	69	0	0	0	1	0	12	69				
ASCC3	10973	broad.mit.edu	37	6	101103624	101103624	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:101103624C>T	ENST00000369162.2	-	17	3118	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	925					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCTCTCATCCGTACATAAAG	0.338																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(2773-2775)cGg>cAg		activating signal cointegrator 1 complex subunit 3							106.0	101.0	103.0					6																	101103624		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101103624C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2774G>A	6.37:g.101103624C>T	ENSP00000358159:p.Arg925Gln						p.R925Q	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	17	3118	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	925					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.2774G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802822	0.96960	.	.	ENSG00000112249	ENST00000369162	T	0.37235	1.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68697	-0.5340	10	0.87932	D	0	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	925	Q8N3C0	HELC1_HUMAN	Q	925	ENSP00000358159:R925Q	ENSP00000358159:R925Q	R	-	2	0	ASCC3	101210345	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.440000	0.80464	2.728000	0.93425	0.591000	0.81541	CGG		0.338	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		7	65	0	0	0	1	0	7	65				
GPR112	139378	broad.mit.edu	37	X	135455200	135455200	+	Missense_Mutation	SNP	T	T	G	rs145241863		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:135455200T>G	ENST00000394143.1	+	15	8044	c.7753T>G	c.(7753-7755)Tat>Gat	p.Y2585D	GPR112_ENST00000394141.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000412101.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000287534.4_Missense_Mutation_p.Y2383D|GPR112_ENST00000370652.1_Missense_Mutation_p.Y2585D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2585					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTCACTCCTATGAAGAAGG	0.537																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7753-7755)Tat>Gat		G protein-coupled receptor 112							200.0	177.0	185.0					X																	135455200		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455200T>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7753T>G	X.37:g.135455200T>G	ENSP00000377699:p.Tyr2585Asp					GPR112_ENST00000412101.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2380D|GPR112_ENST00000370652.1_Missense_Mutation_p.Y2585D|GPR112_ENST00000287534.4_Missense_Mutation_p.Y2383D	p.Y2585D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			15	8044	+	Acute lymphoblastic leukemia(192;0.000127)		2585					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7753T>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	6.755	0.508202	0.12883	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27256	1.72;1.72;1.68;1.82;1.68	5.24	5.24	0.73138	.	.	.	.	.	T	0.11452	0.0279	N	0.03608	-0.345	0.09310	N	1	P;B	0.34546	0.456;0.061	B;B	0.29862	0.108;0.057	T	0.14035	-1.0487	9	0.33141	T	0.24	.	10.6219	0.45484	0.0:0.0:0.0:1.0	.	2380;2585	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	D	2585;2585;2380;2383;2380	ENSP00000377699:Y2585D;ENSP00000359686:Y2585D;ENSP00000416526:Y2380D;ENSP00000287534:Y2383D;ENSP00000377697:Y2380D	ENSP00000287534:Y2383D	Y	+	1	0	GPR112	135282866	0.094000	0.21725	0.027000	0.17364	0.154000	0.21943	1.159000	0.31749	1.848000	0.53677	0.481000	0.45027	TAT		0.537	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			29	302	0	0	0	1	0	29	302				
ZNF491	126069	broad.mit.edu	37	19	11917869	11917869	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:11917869C>G	ENST00000323169.5	+	3	1432	c.1101C>G	c.(1099-1101)gtC>gtG	p.V367V	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TTCATTGTGTCAGCTCCTTTC	0.403																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(1099-1101)gtC>gtG		zinc finger protein 491							57.0	60.0	59.0					19																	11917869		2203	4300	6503	SO:0001819	synonymous_variant	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917869C>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1101C>G	19.37:g.11917869C>G						ZNF491_ENST00000492230.1_Intron	p.V367V	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	1432	+			367					Q3MJ35|Q8NAT8	Silent	SNP	ENST00000323169.5	37	c.1101C>G	CCDS12267.1																																																																																				0.403	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		10	56	0	0	0	1	0	10	56				
ZNF574	64763	broad.mit.edu	37	19	42584120	42584120	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:42584120G>A	ENST00000600245.1	+	2	2017	c.1362G>A	c.(1360-1362)gaG>gaA	p.E454E	ZNF574_ENST00000222339.7_Silent_p.E544E|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.E454E			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTGTGTCTGAGGAGACCTCAG	0.632																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1360-1362)gaG>gaA		zinc finger protein 574							33.0	37.0	36.0					19																	42584120		2202	4298	6500	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584120G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1362G>A	19.37:g.42584120G>A						CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.E544E|ZNF574_ENST00000359044.4_Silent_p.E454E	p.E454E			Q6ZN55	ZN574_HUMAN			2	2017	+		Prostate(69;0.059)	454					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.1362G>A	CCDS12596.1																																																																																				0.632	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		10	93	0	0	0	1	0	10	93				
GPR112	139378	broad.mit.edu	37	X	135455215	135455215	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:135455215G>C	ENST00000394143.1	+	15	8059	c.7768G>C	c.(7768-7770)Gac>Cac	p.D2590H	GPR112_ENST00000394141.1_Missense_Mutation_p.D2385H|GPR112_ENST00000412101.1_Missense_Mutation_p.D2385H|GPR112_ENST00000287534.4_Missense_Mutation_p.D2388H|GPR112_ENST00000370652.1_Missense_Mutation_p.D2590H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2590					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGAAGGCACAGACCCTGAGGT	0.552																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7768-7770)Gac>Cac		G protein-coupled receptor 112							170.0	149.0	156.0					X																	135455215		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455215G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7768G>C	X.37:g.135455215G>C	ENSP00000377699:p.Asp2590His					GPR112_ENST00000412101.1_Missense_Mutation_p.D2385H|GPR112_ENST00000394141.1_Missense_Mutation_p.D2385H|GPR112_ENST00000370652.1_Missense_Mutation_p.D2590H|GPR112_ENST00000287534.4_Missense_Mutation_p.D2388H	p.D2590H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			15	8059	+	Acute lymphoblastic leukemia(192;0.000127)		2590					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7768G>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613917	0.46631	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29397	1.59;1.59;1.57;1.7;1.57	5.24	3.45	0.39498	.	.	.	.	.	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	D;B	0.54964	0.969;0.063	P;B	0.53146	0.719;0.052	T	0.06679	-1.0813	9	0.72032	D	0.01	.	6.1339	0.20221	0.0994:0.0:0.7165:0.1842	.	2385;2590	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	H	2590;2590;2385;2388;2385	ENSP00000377699:D2590H;ENSP00000359686:D2590H;ENSP00000416526:D2385H;ENSP00000287534:D2388H;ENSP00000377697:D2385H	ENSP00000287534:D2388H	D	+	1	0	GPR112	135282881	0.006000	0.16342	0.042000	0.18584	0.734000	0.41952	1.028000	0.30128	0.504000	0.28082	0.594000	0.82650	GAC		0.552	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			27	270	0	0	0	1	0	27	270				
TYW1B	441250	broad.mit.edu	37	7	72277669	72277669	+	RNA	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:72277669C>G	ENST00000435769.2	-	0	835				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTTGGTGTCTCTGTGATGCAA	0.512																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							216.0	196.0	202.0					7																	72277669		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72277669C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277669C>G										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.512	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		6	27	0	0	0	1	0	6	27				
GFRAL	389400	broad.mit.edu	37	6	55216136	55216136	+	Silent	SNP	T	T	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:55216136T>G	ENST00000340465.2	+	5	542	c.456T>G	c.(454-456)ctT>ctG	p.L152L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	152					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCTCTTACCTTAAAGCTTGCT	0.443																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(454-456)ctT>ctG		GDNF family receptor alpha like							274.0	243.0	253.0					6																	55216136		2203	4300	6503	SO:0001819	synonymous_variant	389400					integral to membrane	receptor activity	g.chr6:55216136T>G	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.456T>G	6.37:g.55216136T>G							p.L152L	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	542	+	Lung NSC(77;0.0875)|Renal(3;0.122)		152					Q5VTF6	Silent	SNP	ENST00000340465.2	37	c.456T>G	CCDS4957.1																																																																																				0.443	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		8	174	0	0	0	1	0	8	174				
RASGEF1A	221002	broad.mit.edu	37	10	43692470	43692470	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:43692470C>G	ENST00000395809.1	-	11	3808	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K442N|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K434N			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	434	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCTGAATCTTCTTGTCCTTCT	0.537																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1300-1302)aaG>aaC		RasGEF domain family, member 1A							188.0	146.0	161.0					10																	43692470		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43692470C>G	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1302G>C	10.37:g.43692470C>G	ENSP00000379154:p.Lys434Asn					RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K434N|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K442N	p.K434N			Q8N9B8	RGF1A_HUMAN			11	3808	-			434			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.1302G>C	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400363	0.42613	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.30714	1.52;1.52;1.52	4.97	4.97	0.65823	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.17365	0.0417	N	0.08118	0	0.45580	D	0.998526	B;B	0.10296	0.002;0.003	B;B	0.16289	0.003;0.015	T	0.04621	-1.0938	10	0.52906	T	0.07	.	12.0198	0.53337	0.0:0.9198:0.0:0.0802	.	434;442	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	N	442;434;434	ENSP00000363583:K442N;ENSP00000379155:K434N;ENSP00000379154:K434N	ENSP00000363583:K442N	K	-	3	2	RASGEF1A	43012476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.159000	0.31749	2.441000	0.82636	0.655000	0.94253	AAG		0.537	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		12	37	0	0	0	1	0	12	37				
ZNF804A	91752	broad.mit.edu	37	2	185800792	185800792	+	Silent	SNP	C	C	T	rs148931756		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:185800792C>T	ENST00000302277.6	+	4	1263	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	223							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAAGCGTCCGTGAAGCTAG	0.428																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(667-669)tcC>tcT		zinc finger protein 804A							69.0	70.0	69.0					2																	185800792		2203	4299	6502	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185800792C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.669C>T	2.37:g.185800792C>T							p.S223S	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	1263	+			223					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.669C>T	CCDS2291.1																																																																																				0.428	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		12	49	0	0	0	1	0	12	49				
NUFIP1	26747	broad.mit.edu	37	13	45533706	45533706	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:45533706C>G	ENST00000379161.4	-	7	877	c.831G>C	c.(829-831)aaG>aaC	p.K277N		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	277					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCCCCTTCATCTTGCTGGAGT	0.368																																						ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(829-831)aaG>aaC		nuclear fragile X mental retardation protein interacting protein 1							171.0	162.0	165.0					13																	45533706		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45533706C>G	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.831G>C	13.37:g.45533706C>G	ENSP00000368459:p.Lys277Asn						p.K277N	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	7	877	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	277					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.831G>C	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975150	0.53720	.	.	ENSG00000083635	ENST00000379161	T	0.53640	0.61	5.11	2.41	0.29592	.	0.052830	0.85682	D	0.000000	T	0.64516	0.2605	M	0.80183	2.485	0.43777	D	0.996305	D	0.89917	1.0	D	0.83275	0.996	T	0.61327	-0.7085	10	0.52906	T	0.07	-19.3845	6.9583	0.24583	0.0:0.7027:0.0:0.2973	.	277	Q9UHK0	NUFP1_HUMAN	N	277	ENSP00000368459:K277N	ENSP00000368459:K277N	K	-	3	2	NUFIP1	44431706	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.710000	0.25748	0.254000	0.21573	0.637000	0.83480	AAG		0.368	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		14	104	0	0	0	1	0	14	104				
FDXACB1	91893	broad.mit.edu	37	11	111749772	111749772	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:111749772G>C	ENST00000260257.4	-	1	132	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000524880.1_Missense_Mutation_p.Q29E|FDXACB1_ENST00000542429.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	29					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GCGGTAAGTTGAGTGCTCTGA	0.672											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(85-87)Caa>Gaa		ALG9, alpha-1,2-mannosyltransferase							25.0	35.0	32.0					11																	111749772		1992	4178	6170	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111749772G>C		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.85C>G	11.37:g.111749772G>C	ENSP00000260257:p.Gln29Glu		OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	FDXACB1_ENST00000542429.1_5'UTR|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q29E	p.Q29E			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	1	377	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	329					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.85C>G	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459212	0.43634	.	.	ENSG00000086848;ENSG00000255561	ENST00000428306;ENST00000260257	T	0.28069	1.63	6.17	-12.3	0.00002	Domain of unknown function DUF2431 (1);	1.377690	0.03868	N	0.275142	T	0.09158	0.0226	N	0.03608	-0.345	0.09310	N	0.99999	B	0.09022	0.002	B	0.11329	0.006	T	0.16424	-1.0403	10	0.31617	T	0.26	.	2.7873	0.05377	0.2662:0.1078:0.4094:0.2166	.	29	Q9BRP7	FDXA1_HUMAN	E	29	ENSP00000260257:Q29E	ENSP00000387627:Q29E	Q	-	1	0	FDXACB1;ALG9	111254982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.058000	0.03482	-2.111000	0.00836	-1.047000	0.02352	CAA		0.672	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		6	36	0	0	0	1	0	6	36				
OR4D5	219875	broad.mit.edu	37	11	123811135	123811135	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:123811135T>A	ENST00000307033.2	+	1	886	c.812T>A	c.(811-813)gTc>gAc	p.V271D		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACAAGGCCGTCTCTGTGCTA	0.493																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)gTc>gAc		olfactory receptor, family 4, subfamily D, member 5							161.0	131.0	141.0					11																	123811135		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811135T>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.812T>A	11.37:g.123811135T>A	ENSP00000305970:p.Val271Asp						p.V271D	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	886	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.812T>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047741	0.55110	.	.	ENSG00000171014	ENST00000307033	T	0.42513	0.97	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.68677	0.3027	M	0.91663	3.23	0.24058	N	0.996027	P	0.48294	0.908	D	0.65987	0.94	T	0.66810	-0.5829	10	0.87932	D	0	-13.4657	10.4795	0.44684	0.0:0.0769:0.0:0.9231	.	271	Q8NGN0	OR4D5_HUMAN	D	271	ENSP00000305970:V271D	ENSP00000305970:V271D	V	+	2	0	OR4D5	123316345	0.003000	0.15002	0.262000	0.24481	0.824000	0.46624	1.366000	0.34193	2.078000	0.62432	0.528000	0.53228	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		20	128	0	0	0	1	0	20	128				
MPHOSPH9	10198	broad.mit.edu	37	12	123694622	123694622	+	Missense_Mutation	SNP	G	G	T	rs181390489		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:123694622G>T	ENST00000606320.1	-	8	1381	c.1175C>A	c.(1174-1176)aCa>aAa	p.T392K	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.T240K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.T240K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.T362K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	392						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGACACATCTGTGGAAGACAA	0.493																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1174-1176)aCa>aAa		M-phase phosphoprotein 9							166.0	132.0	144.0					12																	123694622		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123694622G>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1175C>A	12.37:g.123694622G>T	ENSP00000475489:p.Thr392Lys					MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.T240K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.T362K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.T240K	p.T392K			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	8	1381	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		240					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1175C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.432|7.432	0.638928|0.638928	0.14386|0.14386	.|.	.|.	ENSG00000257076|ENSG00000051825	ENST00000539336|ENST00000302349;ENST00000541076	.|T;T	.|0.31769	.|1.48;1.49	5.19|5.19	-0.277|-0.277	0.12898|0.12898	.|.	.|1.347220	.|0.04886	.|N	.|0.448600	T|T	0.20414|0.20414	0.0491|0.0491	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.10450	.|0.005	T|T	0.25710|0.25710	-1.0124|-1.0124	5|10	.|0.30854	.|T	.|0.27	0.891|0.891	6.3774|6.3774	0.21515|0.21515	0.1953:0.0:0.5825:0.2222|0.1953:0.0:0.5825:0.2222	.|.	.|240	.|Q99550	.|MPP9_HUMAN	Q|K	249|240	.|ENSP00000303597:T240K;ENSP00000445859:T240K	.|ENSP00000303597:T240K	H|T	-|-	3|2	2|0	RP11-546D6.2|MPHOSPH9	122260575|122260575	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.051000|0.051000	0.14879|0.14879	0.659000|0.659000	0.24994|0.24994	0.180000|0.180000	0.19960|0.19960	0.637000|0.637000	0.83480|0.83480	CAC|ACA		0.493	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			19	62	1	0	6.94344e-10	1	7.48922e-10	19	62				
RB1	5925	broad.mit.edu	37	13	48936965	48936965	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:48936965C>G	ENST00000267163.4	+	8	871	c.733C>G	c.(733-735)Ccc>Gcc	p.P245A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	245					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCTGTTATACCCATTAATGG	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		21	Whole gene deletion(15)|Unknown(6)	p.0?(15)|p.?(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(733-735)Ccc>Gcc		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						93.0	95.0	94.0					13																	48936965		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48936965C>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.733C>G	13.37:g.48936965C>G	ENSP00000267163:p.Pro245Ala	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P245A	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	871	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	245					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.733C>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699773	0.30142	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92752	-3.1	5.73	4.87	0.63330	.	0.285900	0.33496	N	0.004852	T	0.81446	0.4824	N	0.11427	0.14	0.33525	D	0.592878	B	0.06786	0.001	B	0.04013	0.001	T	0.78097	-0.2337	10	0.30078	T	0.28	.	8.2224	0.31549	0.0:0.7908:0.0:0.2092	.	245	P06400	RB_HUMAN	A	224;245	ENSP00000267163:P245A	ENSP00000267163:P245A	P	+	1	0	RB1	47834966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.182000	0.32029	2.854000	0.98071	0.655000	0.94253	CCC		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			6	58	0	0	0	1	0	6	58				
CCDC97	90324	broad.mit.edu	37	19	41828539	41828539	+	Silent	SNP	C	C	T	rs374346202		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:41828539C>T	ENST00000269967.3	+	5	1073	c.951C>T	c.(949-951)atC>atT	p.I317I		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	317										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCTCGACATCGTGGCACGGG	0.617																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(949-951)atC>atT		coiled-coil domain containing 97				0,4406		0,0,2203	149.0	119.0	129.0		951	-8.7	0.8	19		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC97	NM_052848.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		317/344	41828539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90324							g.chr19:41828539C>T	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.951C>T	19.37:g.41828539C>T							p.I317I	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			5	1073	+			317					Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	c.951C>T	CCDS12578.1																																																																																				0.617	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		17	122	0	0	0	1	0	17	122				
AIFM3	150209	broad.mit.edu	37	22	21331013	21331013	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:21331013C>T	ENST00000399167.2	+	12	1344	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	AIFM3_ENST00000333607.6_Silent_p.F368F|AIFM3_ENST00000399163.2_Silent_p.F368F|AIFM3_ENST00000335375.5_Silent_p.F356F|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Silent_p.F374F|AIFM3_ENST00000440238.2_Silent_p.F368F	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	368					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACGCCCTTCAGGAGGTTCC	0.692																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1102-1104)ttC>ttT		apoptosis-inducing factor, mitochondrion-associated, 3							37.0	34.0	35.0					22																	21331013		2201	4298	6499	SO:0001819	synonymous_variant	150209							g.chr22:21331013C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1104C>T	22.37:g.21331013C>T						AIFM3_ENST00000399163.2_Silent_p.F368F|AIFM3_ENST00000335375.5_Silent_p.F356F|AIFM3_ENST00000405089.1_Silent_p.F374F|AIFM3_ENST00000440238.2_Silent_p.F368F|AIFM3_ENST00000333607.6_Silent_p.F368F|AIFM3_ENST00000465606.1_3'UTR	p.F368F	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		12	1344	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1104C>T	CCDS13786.1																																																																																				0.692	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		5	13	0	0	0	1	0	5	13				
KDELR3	11015	broad.mit.edu	37	22	38881948	38881948	+	IGR	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:38881948G>A	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_Missense_Mutation_p.R730C|DDX17_ENST00000381633.3_Missense_Mutation_p.R651C|DDX17_ENST00000444597.1_Missense_Mutation_p.R180C	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TTTCATTTACGTGAaggagga	0.453																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2188-2190)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box helicase 17							91.0	86.0	88.0					22																	38881948		2203	4300	6503	SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38881948G>A	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881948G>A						DDX17_ENST00000381633.3_Missense_Mutation_p.R651C|DDX17_ENST00000444597.1_Missense_Mutation_p.R180C	p.R730C	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			13	2287	-	Melanoma(58;0.0286)		649					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.2188C>T	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558165	0.45590	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230	T;T;T	0.32988	1.43;1.52;1.47	5.38	4.34	0.51931	.	0.146458	0.30168	N	0.010258	T	0.33030	0.0849	N	0.08118	0	0.50813	D	0.999896	D;D	0.76494	0.999;0.999	P;P	0.62435	0.764;0.902	T	0.44205	-0.9343	10	0.87932	D	0	-5.9391	15.2357	0.73430	0.0:0.0:0.8583:0.1417	.	728;182	Q92841-4;Q9UQL5	.;.	C	730;651;182;180;728	ENSP00000380033:R730C;ENSP00000371046:R651C;ENSP00000385536:R728C	ENSP00000371046:R651C	R	-	1	0	DDX17	37211894	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.420000	0.52735	1.225000	0.43566	0.655000	0.94253	CGT		0.453	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			13	61	0	0	0	1	0	13	61				
IRS4	8471	broad.mit.edu	37	X	107979424	107979424	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:107979424G>A	ENST00000372129.2	-	1	227	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	51					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATGGCTCCCGGACAAGACGAC	0.667																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(151-153)Ccg>Tcg		insulin receptor substrate 4							21.0	24.0	23.0					X																	107979424		2180	4242	6422	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979424G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.151C>T	X.37:g.107979424G>A	ENSP00000361202:p.Pro51Ser						p.P51S	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	227	-			51						Missense_Mutation	SNP	ENST00000372129.2	37	c.151C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	g	17.37	3.373595	0.61624	.	.	ENSG00000133124	ENST00000372129	T	0.38401	1.14	3.0	3.0	0.34707	.	0.674572	0.12263	N	0.484545	T	0.24890	0.0604	N	0.08118	0	0.33132	D	0.543163	D	0.54047	0.964	P	0.47118	0.538	T	0.31475	-0.9942	10	0.49607	T	0.09	-1.068	10.998	0.47589	0.0:0.0:1.0:0.0	.	51	O14654	IRS4_HUMAN	S	51	ENSP00000361202:P51S	ENSP00000361202:P51S	P	-	1	0	IRS4	107866080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.886000	0.63149	1.789000	0.52484	0.431000	0.28591	CCG		0.667	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		13	124	0	0	0	1	0	13	124				
EML3	256364	broad.mit.edu	37	11	62376895	62376895	+	Missense_Mutation	SNP	G	G	A	rs542275752		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62376895G>A	ENST00000394773.2	-	6	996	c.689C>T	c.(688-690)cCg>cTg	p.P230L	EML3_ENST00000531557.1_Missense_Mutation_p.P13L|EML3_ENST00000278845.4_Missense_Mutation_p.P231L|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000494176.2_Missense_Mutation_p.P202L|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.P230L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	230						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATGCCAGACGGGATGTACAT	0.582																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(688-690)cCg>cTg		echinoderm microtubule associated protein like 3							80.0	88.0	85.0					11																	62376895		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62376895G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.689C>T	11.37:g.62376895G>A	ENSP00000378254:p.Pro230Leu					EML3_ENST00000531557.1_Missense_Mutation_p.P13L|EML3_ENST00000529309.1_Missense_Mutation_p.P230L|EML3_ENST00000278845.4_Missense_Mutation_p.P231L|EML3_ENST00000494176.2_Missense_Mutation_p.P202L	p.P230L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			6	996	-			230					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.689C>T	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869577	0.91587	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.67	5.67	0.87782	HELP (1);	0.052465	0.85682	D	0.000000	D	0.85831	0.5788	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999	D	0.88572	0.3130	10	0.87932	D	0	-18.3903	17.2723	0.87105	0.0:0.0:1.0:0.0	.	230;230;13;231;202	Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.;.	L	230;231;13;202;230	ENSP00000378254:P230L;ENSP00000278845:P231L;ENSP00000433417:P13L;ENSP00000435064:P202L;ENSP00000434513:P230L	ENSP00000278845:P231L	P	-	2	0	EML3	62133471	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	9.214000	0.95140	2.667000	0.90743	0.563000	0.77884	CCG		0.582	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		38	176	0	0	0	1	0	38	176				
ZNF343	79175	broad.mit.edu	37	20	2464242	2464242	+	Silent	SNP	G	G	A	rs569600914	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:2464242G>A	ENST00000278772.4	-	6	1852	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GCGTCCGCTCGTGTATGATGA	0.522													G|||	4	0.000798722	0.0	0.0	5008	,	,		22358	0.001		0.0	False		,,,				2504	0.0031					ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1363-1365)caC>caT		zinc finger protein 343							114.0	91.0	99.0					20																	2464242		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464242G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1365C>T	20.37:g.2464242G>A						RP4-734P14.4_ENST00000461548.1_Intron	p.H455H	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1852	-			455					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1365C>T	CCDS13028.1																																																																																				0.522	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		8	102	0	0	0	1	0	8	102				
OTOP1	133060	broad.mit.edu	37	4	4199751	4199751	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:4199751G>A	ENST00000296358.4	-	5	834	c.810C>T	c.(808-810)ctC>ctT	p.L270L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	270					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGAAGGGGTAGAGGTAGTAGA	0.527																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(808-810)ctC>ctT		otopetrin 1							75.0	63.0	67.0					4																	4199751		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199751G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.810C>T	4.37:g.4199751G>A							p.L270L	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	834	-			270					A1L476	Silent	SNP	ENST00000296358.4	37	c.810C>T	CCDS3372.1																																																																																				0.527	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	82	0	0	0	1	0	6	82				
IDS	3423	broad.mit.edu	37	X	148586584	148586584	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:148586584C>T	ENST00000340855.6	-	1	293	c.84G>A	c.(82-84)acG>acA	p.T28T	IDS_ENST00000428056.2_Silent_p.T28T|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000370441.4_Silent_p.T28T|IDS_ENST00000427113.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000370443.4_Silent_p.T28T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	28					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGTTGGCCTGCGTTTCGGATC	0.647																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(82-84)acG>acA		iduronate 2-sulfatase							99.0	74.0	82.0					X																	148586584		2202	4300	6502	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148586584C>T	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.84G>A	X.37:g.148586584C>T						AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Silent_p.T28T|IDS_ENST00000370441.4_Silent_p.T28T|IDS_ENST00000370443.4_Silent_p.T28T|IDS_ENST00000541269.1_Intron	p.T28T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			1	293	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		28					D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.84G>A	CCDS14685.1																																																																																				0.647	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			7	103	0	0	0	1	0	7	103				
DNAH6	1768	broad.mit.edu	37	2	84777021	84777021	+	Missense_Mutation	SNP	G	G	A	rs145235960		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:84777021G>A	ENST00000237449.6	+	8	1333	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	DNAH6_ENST00000389394.3_Missense_Mutation_p.R442H|DNAH6_ENST00000398278.2_Missense_Mutation_p.R442H			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	442	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGCTTTATTCGTCTAAACGAC	0.303																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1324-1326)cGt>cAt		dynein, axonemal, heavy chain 6		G	HIS/ARG	0,4406		0,0,2203	64.0	61.0	62.0		1325	6.0	1.0	2	dbSNP_134	62	1,8599		0,1,4299	yes	missense	DNAH6	NM_001370.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	442/4159	84777021	1,13005	2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84777021G>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1325G>A	2.37:g.84777021G>A	ENSP00000237449:p.Arg442His					DNAH6_ENST00000237449.6_Missense_Mutation_p.R442H|DNAH6_ENST00000398278.2_Missense_Mutation_p.R442H	p.R442H	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			9	1462	+			442			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1325G>A	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904671	0.72868	0.0	1.16E-4	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.29397	1.57;1.68;1.57	6.02	6.02	0.97574	.	0.000000	0.56097	D	0.000021	T	0.57330	0.2046	M	0.72894	2.215	0.43073	D	0.994713	P;D	0.89917	0.95;1.0	B;D	0.87578	0.286;0.998	T	0.50825	-0.8782	10	0.40728	T	0.16	.	19.3087	0.94175	0.0:0.0:1.0:0.0	.	442;21	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	H	442	ENSP00000374045:R442H;ENSP00000381326:R442H;ENSP00000237449:R442H	ENSP00000237449:R442H	R	+	2	0	DNAH6	84630532	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.394000	0.52551	2.857000	0.98124	0.650000	0.86243	CGT		0.303	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		8	23	0	0	0	1	0	8	23				
TRGC1	6966	broad.mit.edu	37	7	38305189	38305189	+	RNA	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:38305189A>G	ENST00000443402.2	-	0	90					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											AAGAAGACAAAGGTATGTTCC	0.423																																						ENST00000443402.2																			0																				175.0	187.0	184.0					7																	38305189		1816	4073	5889			6966							g.chr7:38305189A>G	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305189A>G								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	90	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		23	137	0	0	0	1	0	23	137				
ZMYM3	9203	broad.mit.edu	37	X	70467620	70467620	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:70467620C>A	ENST00000353904.2	-	12	2299	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	ZMYM3_ENST00000314425.5_Missense_Mutation_p.E704D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E706D|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E706D|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E704D|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	704					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTACAGTCCTCACTGCAGA	0.592																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2110-2112)gaG>gaT		zinc finger, MYM-type 3							65.0	54.0	57.0					X																	70467620		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70467620C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2112G>T	X.37:g.70467620C>A	ENSP00000343909:p.Glu704Asp					ZMYM3_ENST00000353904.2_Missense_Mutation_p.E704D|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E706D|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E706D|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E704D|ZMYM3_ENST00000489332.1_5'UTR	p.E704D	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			12	2809	-	Renal(35;0.156)		704					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2112G>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.971564	0.74246	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.53640	1.15;0.61;1.15;1.17;1.15	4.7	2.93	0.34026	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.64402	D	0.000003	T	0.45935	0.1367	L	0.29908	0.895	0.33295	D	0.564066	P;P	0.47191	0.867;0.891	P;P	0.58520	0.752;0.84	T	0.55717	-0.8097	10	0.54805	T	0.06	-16.1949	4.1768	0.10356	0.1695:0.56:0.0:0.2705	.	704;704	Q14202-2;Q14202	.;ZMYM3_HUMAN	D	704;704;704;706;706	ENSP00000322845:E704D;ENSP00000363110:E704D;ENSP00000343909:E704D;ENSP00000363096:E706D;ENSP00000363100:E706D	ENSP00000322845:E704D	E	-	3	2	ZMYM3	70384345	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.230000	0.42999	0.429000	0.26202	-0.305000	0.09177	GAG		0.592	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	54	1	0	3.99206e-14	1	4.363e-14	19	54				
BCAP31	10134	broad.mit.edu	37	X	152967530	152967530	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:152967530T>A	ENST00000345046.6	-	7	1041	c.634A>T	c.(634-636)Atg>Ttg	p.M212L	BCAP31_ENST00000458587.2_Missense_Mutation_p.M279L|BCAP31_ENST00000441714.1_Missense_Mutation_p.M212L	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	212					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCCGCATGGCCAGAACC	0.522																																						ENST00000458587.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(835-837)Atg>Ttg		B-cell receptor-associated protein 31							46.0	40.0	42.0					X																	152967530		2203	4298	6501	SO:0001583	missense	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152967530T>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.634A>T	X.37:g.152967530T>A	ENSP00000343458:p.Met212Leu					BCAP31_ENST00000345046.6_Missense_Mutation_p.M212L|BCAP31_ENST00000441714.1_Missense_Mutation_p.M212L|BCAP31_ENST00000477175.1_Intron	p.M279L	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN			7	1264	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		212					B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.835A>T	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	t	14.22	2.469732	0.43839	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587	T;T;T	0.22743	1.94;1.94;1.94	5.38	5.38	0.77491	.	0.039021	0.85682	D	0.000000	T	0.13200	0.0320	N	0.25094	0.71	0.54753	D	0.999987	B;B	0.22851	0.028;0.076	B;B	0.25140	0.017;0.058	T	0.03933	-1.0991	10	0.02654	T	1	-30.3783	13.3911	0.60825	0.0:0.0:0.0:1.0	.	212;279	P51572;B3KQ79	BAP31_HUMAN;.	L	212;212;279;279	ENSP00000405417:M212L;ENSP00000343458:M212L;ENSP00000392330:M279L	ENSP00000343458:M212L	M	-	1	0	BCAP31	152620724	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	5.253000	0.65452	1.804000	0.52760	0.427000	0.28365	ATG		0.522	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		13	40	0	0	0	1	0	13	40				
DSEL	92126	broad.mit.edu	37	18	65179810	65179810	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:65179810G>A	ENST00000310045.7	-	2	3539	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	679					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAGACATATGCAATTCTTGT	0.368																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2065-2067)gCa>gTa		dermatan sulfate epimerase-like							76.0	79.0	78.0					18																	65179810		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179810G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2066C>T	18.37:g.65179810G>A	ENSP00000310565:p.Ala689Val					CTD-2541J13.2_ENST00000583493.1_RNA	p.A689V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	3539	-		Esophageal squamous(42;0.129)	679					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2066C>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722476	0.30503	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.21543	2.0	5.64	4.77	0.60923	.	0.066409	0.64402	U	0.000015	T	0.17831	0.0428	L	0.35644	1.08	0.44762	D	0.99776	B	0.12013	0.005	B	0.15870	0.014	T	0.02837	-1.1104	10	0.40728	T	0.16	.	11.9506	0.52952	0.1447:0.0:0.8553:0.0	.	679	Q8IZU8	DSEL_HUMAN	V	689;679	ENSP00000310565:A689V	ENSP00000310565:A689V	A	-	2	0	DSEL	63330790	1.000000	0.71417	0.923000	0.36655	0.747000	0.42532	4.019000	0.57181	1.397000	0.46682	0.462000	0.41574	GCA		0.368	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		6	30	0	0	0	1	0	6	30				
F8	2157	broad.mit.edu	37	X	154185290	154185290	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:154185290C>G	ENST00000360256.4	-	11	1894	c.1694G>C	c.(1693-1695)gGa>gCa	p.G565A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	565	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAATGAGTCCTGAAGCTAG	0.463																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1693-1695)gGa>gCa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						202.0	179.0	187.0					X																	154185290		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185290C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1694G>C	X.37:g.154185290C>G	ENSP00000353393:p.Gly565Ala						p.G565A	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			11	1894	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		565			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1694G>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439328	0.83885	.	.	ENSG00000185010	ENST00000360256	D	0.99962	-9.46	5.19	5.19	0.71726	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	H	0.97587	4.035	0.46901	D	0.99924	D	0.89917	1.0	D	0.91635	0.999	D	0.96848	0.9623	10	0.87932	D	0	-19.5987	16.318	0.82935	0.0:1.0:0.0:0.0	.	565	P00451	FA8_HUMAN	A	565	ENSP00000353393:G565A	ENSP00000353393:G565A	G	-	2	0	F8	153838484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.952000	0.75989	2.155000	0.67459	0.600000	0.82982	GGA		0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			25	191	0	0	0	1	0	25	191				
NPY4R	5540	broad.mit.edu	37	10	47087415	47087415	+	Missense_Mutation	SNP	G	G	A	rs147108354		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:47087415G>A	ENST00000395716.1	+	2	717	c.632G>A	c.(631-633)cGc>cAc	p.R211H	NPY4R_ENST00000374312.1_Missense_Mutation_p.R211H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	211					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GCTCACCACCGCACCATCTAC	0.582																																						ENST00000374312.1																			0											c.(631-633)cGc>cAc		neuropeptide Y receptor Y4		A	HIS/ARG	0,4406		0,0,2203	212.0	167.0	183.0		632	3.0	0.8	10	dbSNP_134	183	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPYR1	NM_005972.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	211/376	47087415	1,13005	2203	4300	6503	SO:0001583	missense	5540							g.chr10:47087415G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.632G>A	10.37:g.47087415G>A	ENSP00000379066:p.Arg211His					NPY4R_ENST00000395716.1_Missense_Mutation_p.R211H	p.R211H	NM_005972.4	NP_005963.3					3	1051	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.632G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	g	9.998	1.232703	0.22626	0.0	1.16E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.37411	1.2;1.2	4.93	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.120258	0.52532	N	0.000062	T	0.44052	0.1275	M	0.85099	2.735	0.44677	D	0.99766	B	0.30146	0.27	B	0.34346	0.18	T	0.51671	-0.8676	10	0.66056	D	0.02	.	10.3263	0.43796	0.1755:0.0:0.8245:0.0	.	211	P50391	NPY4R_HUMAN	H	211	ENSP00000363431:R211H;ENSP00000379066:R211H	ENSP00000363431:R211H	R	+	2	0	PPYR1	46507421	0.972000	0.33761	0.846000	0.33378	0.008000	0.06430	3.255000	0.51484	1.239000	0.43787	-0.165000	0.13383	CGC		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			9	147	0	0	0	1	0	9	147				
PCDHA3	56145	broad.mit.edu	37	5	140182628	140182628	+	Missense_Mutation	SNP	G	G	A	rs142788061		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140182628G>A	ENST00000522353.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G616S|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGGACCGGCGGTGCGCG	0.677																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1846-1848)Ggc>Agc				G	,,SER/GLY,,SER/GLY	0,4406		0,0,2203	79.0	79.0	79.0		,,1846,,1846	3.4	0.0	5	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron,missense	PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_031411.1,NM_031497.1	,,56,,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	,,616/951,,616/825	140182628	1,13005	2203	4300	6503	SO:0001583	missense	56145							g.chr5:140182628G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1846G>A	5.37:g.140182628G>A	ENSP00000429808:p.Gly616Ser					PCDHA3_ENST00000532566.2_Missense_Mutation_p.G616S|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.G616S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1846	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1846G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	1.951	-0.441229	0.04604	0.0	1.16E-4	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.46819	0.86;0.86	4.32	3.44	0.39384	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35008	0.0917	L	0.35644	1.08	0.09310	N	1	B;B	0.33512	0.242;0.415	B;B	0.30716	0.053;0.119	T	0.16188	-1.0411	9	0.40728	T	0.16	.	8.2367	0.31631	0.1854:0.0:0.8146:0.0	.	616;616	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	616	ENSP00000429808:G616S;ENSP00000434086:G616S	ENSP00000429808:G616S	G	+	1	0	PCDHA3	140162812	0.938000	0.31826	0.007000	0.13788	0.004000	0.04260	3.290000	0.51755	0.938000	0.37419	0.467000	0.42956	GGC		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		22	98	0	0	0	1	0	22	98				
OTUD7A	161725	broad.mit.edu	37	15	31818596	31818596	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:31818596G>A	ENST00000307050.4	-	6	920	c.828C>T	c.(826-828)agC>agT	p.S276S	OTUD7A_ENST00000382902.1_Silent_p.S283S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	276	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGCGCGGCTCGCTGGAGGCCA	0.677																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(847-849)agC>agT		OTU domain containing 7A							37.0	34.0	35.0					15																	31818596		2202	4300	6502	SO:0001819	synonymous_variant	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31818596G>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.828C>T	15.37:g.31818596G>A						OTUD7A_ENST00000307050.4_Silent_p.S276S	p.S283S			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	6	941	-		all_lung(180;1.6e-09)	276			Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).		Q8IWK5	Silent	SNP	ENST00000307050.4	37	c.849C>T	CCDS10026.1																																																																																				0.677	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		4	9	0	0	0	1	0	4	9				
TET3	200424	broad.mit.edu	37	2	74273738	74273738	+	Missense_Mutation	SNP	G	G	T	rs368220237		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:74273738G>T	ENST00000409262.3	+	1	289	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	97					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGTCGTGAGGCTGGGAACAA	0.637																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(289-291)Gct>Tct		tet methylcytosine dioxygenase 3							39.0	43.0	42.0					2																	74273738		1945	4147	6092	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74273738G>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.289G>T	2.37:g.74273738G>T	ENSP00000386869:p.Ala97Ser						p.A97S	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	289	+			97					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.289G>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	9.580	1.123452	0.20959	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.24538	1.85;2.7	5.3	3.48	0.39840	.	.	.	.	.	T	0.14399	0.0348	N	0.14661	0.345	0.24723	N	0.993132	B	0.16603	0.018	B	0.19391	0.025	T	0.23261	-1.0193	9	0.35671	T	0.21	.	6.2903	0.21057	0.1666:0.1697:0.6637:0.0	.	97	O43151	TET3_HUMAN	S	139;97;97	ENSP00000307803:A139S;ENSP00000386869:A97S	ENSP00000233310:A97S	A	+	1	0	TET3	74127246	0.850000	0.29656	0.999000	0.59377	0.996000	0.88848	1.894000	0.39768	0.780000	0.33566	0.555000	0.69702	GCT		0.637	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	48	1	0	0.014758	1	0.0149394	5	48				
ARHGEF1	9138	broad.mit.edu	37	19	42406962	42406962	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:42406962G>A	ENST00000354532.3	+	18	1800	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R518H|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R533H|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R607H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R566H	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	551	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CGGTGCCGCCGCCTGCAGCTG	0.667																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1819-1821)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 1							39.0	44.0	42.0					19																	42406962		2202	4295	6497	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406962G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1652G>A	19.37:g.42406962G>A	ENSP00000346532:p.Arg551His					ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R533H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R566H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R551H|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R518H	p.R607H			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	19	1945	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	551					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.1820G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678152	0.88542	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.53	4.53	0.55603	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.79633	0.4479	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.961;0.999;0.997;0.995;0.969	T	0.83158	-0.0100	10	0.87932	D	0	-20.2373	15.1645	0.72811	0.0:0.0:1.0:0.0	.	210;533;566;518;551	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	H	551;518;566;533	ENSP00000346532:R551H;ENSP00000344429:R518H;ENSP00000337261:R566H;ENSP00000367394:R533H	ENSP00000337261:R566H	R	+	2	0	ARHGEF1	47098802	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	9.460000	0.97641	2.240000	0.73641	0.456000	0.33151	CGC		0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		27	99	0	0	0	1	0	27	99				
THOC2	57187	broad.mit.edu	37	X	122757984	122757984	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:122757984C>T	ENST00000245838.8	-	27	3276	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	THOC2_ENST00000491737.1_Missense_Mutation_p.G967E|THOC2_ENST00000355725.4_Missense_Mutation_p.G1082E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1082					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGCCTTATTTCCACCATCAAA	0.313																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3244-3246)gGa>gAa		THO complex 2							127.0	107.0	113.0					X																	122757984		1825	4075	5900	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757984C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3245G>A	X.37:g.122757984C>T	ENSP00000245838:p.Gly1082Glu					THOC2_ENST00000355725.4_Missense_Mutation_p.G1082E|THOC2_ENST00000491737.1_Missense_Mutation_p.G967E	p.G1082E	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			27	3276	-			1082					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3245G>A	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.390544|3.390544	0.62066|0.62066	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	THO complex, subunitTHOC2, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|.	0.70325|.	0.3211|.	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B|.	0.20550|.	0.046|.	B|.	0.28139|.	0.086|.	T|.	0.66412|.	-0.5930|.	9|.	0.23302|.	T|.	0.38|.	-16.2689|-16.2689	18.9662|18.9662	0.92697|0.92697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1082|.	Q8NI27|.	THOC2_HUMAN|.	E|X	1082;1082;967|154	.|.	ENSP00000245838:G1082E|.	G|W	-|-	2|3	0|0	THOC2|THOC2	122585665|122585665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.999000|5.999000	0.70665|0.70665	2.427000|2.427000	0.82271|0.82271	0.600000|0.600000	0.82982|0.82982	GGA|TGG		0.313	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			4	62	0	0	0	1	0	4	62				
TMED8	283578	broad.mit.edu	37	14	77818038	77818038	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:77818038C>T	ENST00000216468.7	-	2	230	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	RN7SL137P_ENST00000584622.1_RNA	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	59					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCAGGGTTCTGGATCGGTG	0.408																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(175-177)Gaa>Aaa		transmembrane emp24 protein transport domain containing 8							127.0	136.0	133.0					14																	77818038		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77818038C>T	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.175G>A	14.37:g.77818038C>T	ENSP00000216468:p.Glu59Lys						p.E59K	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	2	230	-			59					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.175G>A	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158486	0.38119	.	.	ENSG00000100580	ENST00000216468	T	0.25250	1.81	5.03	4.12	0.48240	.	0.334544	0.31071	N	0.008317	T	0.15132	0.0365	N	0.19112	0.55	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.20874	-1.0262	10	0.18276	T	0.48	-1.5987	10.6628	0.45712	0.1908:0.8092:0.0:0.0	.	59	Q6PL24	TMED8_HUMAN	K	59	ENSP00000216468:E59K	ENSP00000216468:E59K	E	-	1	0	TMED8	76887791	0.916000	0.31088	0.735000	0.30896	0.465000	0.32709	3.153000	0.50685	1.335000	0.45486	0.638000	0.83543	GAA		0.408	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		16	96	0	0	0	1	0	16	96				
PAPD7	11044	broad.mit.edu	37	5	6750447	6750447	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:6750447G>A	ENST00000230859.6	+	10	1070	c.941G>A	c.(940-942)aGc>aAc	p.S314N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	544					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCCACAGACAGCAGGATCAAG	0.587																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(940-942)aGc>aAc		PAP associated domain containing 7							64.0	62.0	63.0					5																	6750447		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6750447G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.941G>A	5.37:g.6750447G>A	ENSP00000230859:p.Ser314Asn						p.S314N	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			10	1070	+			314					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.941G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.353918	0.01256	.	.	ENSG00000112941	ENST00000230859	T	0.27720	1.65	5.09	0.984	0.19773	.	0.569795	0.19342	N	0.116634	T	0.06826	0.0174	N	0.00392	-1.555	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39820	-0.9595	10	0.09590	T	0.72	-8.0589	8.2958	0.31984	0.7803:0.0:0.2197:0.0	.	314;314	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	314	ENSP00000230859:S314N	ENSP00000230859:S314N	S	+	2	0	PAPD7	6803447	0.989000	0.36119	0.858000	0.33744	0.241000	0.25554	1.176000	0.31957	-0.012000	0.14223	-0.415000	0.06103	AGC		0.587	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		21	78	0	0	0	1	0	21	78				
TRAJ10	28745	broad.mit.edu	37	14	23000917	23000917	+	RNA	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:23000917C>T	ENST00000390527.1	+	0	0				TRAJ13_ENST00000390524.1_RNA|TRAJ11_ENST00000390526.1_RNA|TRAJ14_ENST00000390523.1_RNA|TRAJ12_ENST00000390525.1_RNA					T cell receptor alpha joining 10																		AATTGATCTTCGGGAGTGGGA	0.443																																						ENST00000390525.1																			0																				142.0	139.0	140.0					14																	23000917		1883	4112	5995			28743							g.chr14:23000917C>T	M94081		14q11.2	2012-02-07			ENSG00000211879	ENSG00000211879		"""T cell receptors / TRA locus"""	12038	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170957		14.37:g.23000917C>T														0	29	+									RNA	SNP	ENST00000390527.1	37																																																																																						0.443	TRAJ10-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410988.1	NG_001332		6	101	0	0	0	1	0	6	101				
MYO18B	84700	broad.mit.edu	37	22	26270302	26270302	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:26270302A>C	ENST00000407587.2	+	23	4173	c.4004A>C	c.(4003-4005)aAg>aCg	p.K1335T	MYO18B_ENST00000335473.7_Missense_Mutation_p.K1334T|MYO18B_ENST00000536101.1_Missense_Mutation_p.K1334T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1334						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGCGAGAGAAGCTGGTATCT	0.532																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(4000-4002)aAg>aCg		myosin XVIIIB							99.0	97.0	98.0					22																	26270302		1895	4126	6021	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26270302A>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4004A>C	22.37:g.26270302A>C	ENSP00000386096:p.Lys1335Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.K1335T|MYO18B_ENST00000536101.1_Missense_Mutation_p.K1334T	p.K1334T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			23	4251	+			1334					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4001A>C		.	.	.	.	.	.	.	.	.	.	A	15.42	2.829348	0.50845	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72505	-0.66;-0.66;-0.66	5.45	4.42	0.53409	Myosin head, motor domain (1);	0.135633	0.50627	D	0.000109	T	0.74772	0.3760	L	0.41124	1.26	0.31029	N	0.717685	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.984;0.988;0.999;0.995	T	0.72104	-0.4391	10	0.30078	T	0.28	.	9.2772	0.37707	0.915:0.0:0.085:0.0	.	847;1334;1335;1334	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1334;1334;1335	ENSP00000441229:K1334T;ENSP00000334563:K1334T;ENSP00000386096:K1335T	ENSP00000334563:K1334T	K	+	2	0	MYO18B	24600302	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.540000	0.45727	0.917000	0.36895	0.528000	0.53228	AAG		0.532	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		21	45	0	0	0	1	0	21	45				
PPAP2C	8612	broad.mit.edu	37	19	288131	288131	+	Silent	SNP	C	C	T	rs139859911		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:288131C>T	ENST00000269812.3	-	2	142	c.93G>A	c.(91-93)ccG>ccA	p.P31P	PPAP2C_ENST00000327790.3_Silent_p.P52P|PPAP2C_ENST00000434325.2_5'UTR	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	31					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCTTGTACGGGGCGTTCA	0.622																																						ENST00000269812.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5						c.(91-93)ccG>ccA		phosphatidic acid phosphatase type 2C			,,	0,4406		0,0,2203	141.0	110.0	120.0		93,,156	-9.4	0.0	19	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,utr-5,coding-synonymous	PPAP2C	NM_003712.2,NM_177526.1,NM_177543.1	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	31/289,,52/310	288131	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:288131C>T	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.93G>A	19.37:g.288131C>T						PPAP2C_ENST00000434325.2_5'UTR|PPAP2C_ENST00000327790.3_Silent_p.P52P	p.P31P	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	142	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	31					A6NLV0|E9PAY8	Silent	SNP	ENST00000269812.3	37	c.93G>A	CCDS12023.1																																																																																				0.622	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			47	67	0	0	0	1	0	47	67				
NEB	4703	broad.mit.edu	37	2	152580789	152580789	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:152580789G>A	ENST00000172853.10	-	8	744	c.597C>T	c.(595-597)acC>acT	p.T199T	NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000397345.3_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000427231.2_Silent_p.T199T			P20929	NEBU_HUMAN	nebulin	199					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAACATGGCGGTGTTCTTAA	0.453																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(595-597)acC>acT		nebulin							127.0	139.0	135.0					2																	152580789		1986	4160	6146	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152580789G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.597C>T	2.37:g.152580789G>A						NEB_ENST00000172853.10_Silent_p.T199T|NEB_ENST00000603639.1_Silent_p.T199T|NEB_ENST00000409198.1_Silent_p.T199T|NEB_ENST00000604864.1_Silent_p.T199T|NEB_ENST00000397345.3_Silent_p.T199T	p.T199T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	8	799	-			199					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.597C>T																																																																																					0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	16	0	0	0	1	0	6	16				
G6PC3	92579	broad.mit.edu	37	17	42153283	42153283	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:42153283C>G	ENST00000269097.4	+	6	1144	c.913C>G	c.(913-915)Cag>Gag	p.Q305E		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	305					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACCCCCCTCAGATCAGCCT	0.617																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(913-915)Cag>Gag		glucose 6 phosphatase, catalytic, 3							81.0	74.0	76.0					17																	42153283		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153283C>G	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.913C>G	17.37:g.42153283C>G	ENSP00000269097:p.Gln305Glu						p.Q305E	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1144	+		Breast(137;0.00637)|Prostate(33;0.0313)	305					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.913C>G	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920577	0.33908	.	.	ENSG00000141349	ENST00000269097	T	0.80123	-1.34	5.18	5.18	0.71444	.	0.061993	0.64402	D	0.000003	T	0.66771	0.2823	L	0.29908	0.895	0.29193	N	0.875753	P	0.43788	0.817	B	0.38500	0.275	T	0.61695	-0.7010	10	0.13853	T	0.58	-0.9733	11.1529	0.48469	0.1836:0.8164:0.0:0.0	.	305	Q9BUM1	G6PC3_HUMAN	E	305	ENSP00000269097:Q305E	ENSP00000269097:Q305E	Q	+	1	0	G6PC3	39508809	0.027000	0.19231	1.000000	0.80357	0.989000	0.77384	0.945000	0.29056	2.701000	0.92244	0.655000	0.94253	CAG		0.617	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		11	109	0	0	0	1	0	11	109				
ADAMTS3	9508	broad.mit.edu	37	4	73414511	73414511	+	Missense_Mutation	SNP	G	G	A	rs145300703		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:73414511G>A	ENST00000286657.4	-	3	224	c.188C>T	c.(187-189)gCg>gTg	p.A63V	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	63					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGTGACTCGCAGAAAGAGT	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(187-189)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	77.0	78.0		188	5.7	1.0	4	dbSNP_134	78	0,8600		0,0,4300	no	missense	ADAMTS3	NM_014243.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	63/1206	73414511	1,13005	2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73414511G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.188C>T	4.37:g.73414511G>A	ENSP00000286657:p.Ala63Val					ADAMTS3_ENST00000505193.1_5'UTR	p.A63V	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	224	-			63					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.188C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303082	0.60195	2.27E-4	0.0	ENSG00000156140	ENST00000286657	T	0.61274	0.12	5.74	5.74	0.90152	Peptidase M12B, propeptide (1);	0.000000	0.64402	D	0.000004	T	0.48874	0.1524	L	0.47716	1.5	0.54753	D	0.999986	B	0.25312	0.123	B	0.25291	0.059	T	0.36212	-0.9757	10	0.17369	T	0.5	.	12.5862	0.56419	0.0756:0.0:0.9244:0.0	.	63	O15072	ATS3_HUMAN	V	63	ENSP00000286657:A63V	ENSP00000286657:A63V	A	-	2	0	ADAMTS3	73633375	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.636000	0.74299	2.861000	0.98227	0.643000	0.83706	GCG		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	55	0	0	0	1	0	13	55				
ZNF43	7594	broad.mit.edu	37	19	21991248	21991248	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:21991248T>C	ENST00000354959.4	-	4	1760	c.1591A>G	c.(1591-1593)Act>Gct	p.T531A	ZNF43_ENST00000595461.1_Missense_Mutation_p.T525A|ZNF43_ENST00000598381.1_Missense_Mutation_p.T525A|ZNF43_ENST00000594012.1_Missense_Mutation_p.T525A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCAGTATGAGTTATCTTATGT	0.348																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1573-1575)Act>Gct		zinc finger protein 43							58.0	62.0	60.0					19																	21991248		2189	4287	6476	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991248T>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1591A>G	19.37:g.21991248T>C	ENSP00000347045:p.Thr531Ala					ZNF43_ENST00000598381.1_Missense_Mutation_p.T525A|ZNF43_ENST00000595461.1_Missense_Mutation_p.T525A|ZNF43_ENST00000354959.4_Missense_Mutation_p.T531A	p.T525A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2087	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	531					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1573A>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	5.680	0.310054	0.10733	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.11930	2.73	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	L	0.35414	1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.27400	-1.0075	9	0.72032	D	0.01	.	4.8732	0.13644	0.0:0.1789:0.0:0.8211	.	531	P17038	ZNF43_HUMAN	A	530;531	ENSP00000347045:T531A	ENSP00000347045:T531A	T	-	1	0	ZNF43	21783088	0.000000	0.05858	0.013000	0.15412	0.857000	0.48899	-0.976000	0.03786	0.808000	0.34231	0.254000	0.18369	ACT		0.348	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		15	41	0	0	0	1	0	15	41				
NR3C1	2908	broad.mit.edu	37	5	142680152	142680152	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:142680152C>T	ENST00000343796.2	-	5	2638	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	NR3C1_ENST00000503201.1_Missense_Mutation_p.D549N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D550N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D550N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D549N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D549N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D550N|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000424646.2_Missense_Mutation_p.D523N|NR3C1_ENST00000416954.2_Missense_Mutation_p.D152N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	549	Interaction with CLOCK.|Interaction with CRY1.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ACAGAGCTATCATATCCTGCA	0.463																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1645-1647)Gat>Aat		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						257.0	236.0	243.0					5																	142680152		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142680152C>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1645G>A	5.37:g.142680152C>T	ENSP00000343205:p.Asp549Asn					NR3C1_ENST00000503201.1_Missense_Mutation_p.D549N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D550N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D549N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D523N|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000416954.2_Missense_Mutation_p.D152N|NR3C1_ENST00000504572.1_Missense_Mutation_p.D550N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D549N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D550N	p.D549N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		5	2638	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	549			Steroid-binding.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.1645G>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185757	0.78789	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.83	5.83	0.93111	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.98157	0.9391	M	0.79614	2.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98626	1.0669	10	0.87932	D	0	.	20.126	0.97982	0.0:1.0:0.0:0.0	.	549;549;550	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	N	549;549;549;523;550;550;550;152;549	ENSP00000377977:D549N;ENSP00000343205:D549N;ENSP00000387672:D549N;ENSP00000405282:D523N;ENSP00000422518:D550N;ENSP00000377979:D550N;ENSP00000231509:D550N;ENSP00000404218:D152N;ENSP00000427672:D549N	ENSP00000231509:D550N	D	-	1	0	NR3C1	142660345	1.000000	0.71417	0.102000	0.21198	0.026000	0.11368	7.466000	0.80914	2.749000	0.94314	0.655000	0.94253	GAT		0.463	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			27	150	0	0	0	1	0	27	150				
IMMT	10989	broad.mit.edu	37	2	86378626	86378626	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:86378626C>T	ENST00000410111.3	-	12	1582	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	IMMT_ENST00000442664.2_Missense_Mutation_p.D398N|IMMT_ENST00000409051.2_Missense_Mutation_p.D352N|IMMT_ENST00000449247.2_Missense_Mutation_p.D388N|IMMT_ENST00000254636.5_Missense_Mutation_p.D300N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	399					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCAGATCATCAGTAGAGAGC	0.408																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1195-1197)Gat>Aat		inner membrane protein, mitochondrial							102.0	89.0	93.0					2																	86378626		1962	4164	6126	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86378626C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1195G>A	2.37:g.86378626C>T	ENSP00000387262:p.Asp399Asn					IMMT_ENST00000254636.5_Missense_Mutation_p.D300N|IMMT_ENST00000442664.2_Missense_Mutation_p.D398N|IMMT_ENST00000449247.2_Missense_Mutation_p.D388N|IMMT_ENST00000409051.2_Missense_Mutation_p.D352N	p.D399N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			12	1582	-			399					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1195G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495405	0.85069	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.64404	1.975	0.80722	D	1	P;D;D;D;D;D	0.60575	0.793;0.988;0.988;0.985;0.985;0.988	P;D;D;D;D;D	0.67900	0.739;0.954;0.954;0.924;0.924;0.954	T	0.44345	-0.9334	10	0.22706	T	0.39	-21.9321	19.9406	0.97159	0.0:1.0:0.0:0.0	.	352;387;301;388;367;399	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;IMMT_HUMAN	N	300;388;399;398;352;388;367;300	ENSP00000254636:D300N;ENSP00000396899:D388N;ENSP00000387262:D399N;ENSP00000407788:D398N;ENSP00000387227:D352N	ENSP00000254636:D300N	D	-	1	0	IMMT	86232137	1.000000	0.71417	0.877000	0.34402	0.259000	0.26198	7.815000	0.86186	2.716000	0.92895	0.650000	0.86243	GAT		0.408	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		8	49	0	0	0	1	0	8	49				
FAM111B	374393	broad.mit.edu	37	11	58892339	58892339	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:58892339G>C	ENST00000343597.3	+	4	960	c.769G>C	c.(769-771)Gat>Cat	p.D257H	FAM111B_ENST00000529618.1_Missense_Mutation_p.D227H|FAM111B_ENST00000411426.1_Missense_Mutation_p.D227H	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	257							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTCCATGGTGGATGAAGTATC	0.343																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(769-771)Gat>Cat		family with sequence similarity 111, member B							52.0	55.0	54.0					11																	58892339		2197	4292	6489	SO:0001583	missense	374393						catalytic activity	g.chr11:58892339G>C	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.769G>C	11.37:g.58892339G>C	ENSP00000341565:p.Asp257His					FAM111B_ENST00000411426.1_Missense_Mutation_p.D227H|FAM111B_ENST00000529618.1_Missense_Mutation_p.D227H	p.D257H	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	960	+			257					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.769G>C	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578220	0.65878	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.51817	0.69;0.69;0.72	4.18	4.18	0.49190	.	0.491069	0.16512	N	0.211212	T	0.66944	0.2841	M	0.76574	2.34	0.18873	N	0.999982	D	0.89917	1.0	D	0.68765	0.96	T	0.59096	-0.7518	10	0.87932	D	0	.	13.8536	0.63513	0.0:0.0:1.0:0.0	.	257	Q6SJ93	F111B_HUMAN	H	227;227;257	ENSP00000393855:D227H;ENSP00000432875:D227H;ENSP00000341565:D257H	ENSP00000341565:D257H	D	+	1	0	FAM111B	58648915	1.000000	0.71417	0.165000	0.22776	0.408000	0.30992	5.533000	0.67160	2.328000	0.79073	0.655000	0.94253	GAT		0.343	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		14	46	0	0	0	1	0	14	46				
WDR17	116966	broad.mit.edu	37	4	177067180	177067180	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:177067180G>C	ENST00000280190.4	+	13	1792	c.1636G>C	c.(1636-1638)Gtt>Ctt	p.V546L	WDR17_ENST00000393643.2_Missense_Mutation_p.V522L|WDR17_ENST00000507824.2_Missense_Mutation_p.V529L|WDR17_ENST00000508596.1_Missense_Mutation_p.V522L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	546										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGACACAAATGTTCGTGTTTA	0.343																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1564-1566)Gtt>Ctt		WD repeat domain 17							119.0	112.0	114.0					4																	177067180		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177067180G>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1636G>C	4.37:g.177067180G>C	ENSP00000280190:p.Val546Leu					WDR17_ENST00000508596.1_Missense_Mutation_p.V522L|WDR17_ENST00000280190.4_Missense_Mutation_p.V546L|WDR17_ENST00000507824.2_Missense_Mutation_p.V529L	p.V522L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	12	1816	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	546					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1564G>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135954	0.56936	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.63580	-0.05;-0.05;-0.05	5.49	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070681	0.56097	D	0.000035	T	0.61974	0.2390	L	0.52759	1.655	0.51233	D	0.999919	B;P	0.34977	0.264;0.478	B;B	0.40477	0.33;0.33	T	0.63954	-0.6520	10	0.54805	T	0.06	-18.143	14.719	0.69291	0.071:0.0:0.929:0.0	.	522;546	E7EQX0;Q8IZU2	.;WDR17_HUMAN	L	522;522;546;529	ENSP00000422763:V522L;ENSP00000377258:V522L;ENSP00000280190:V546L	ENSP00000280190:V546L	V	+	1	0	WDR17	177304174	1.000000	0.71417	0.846000	0.33378	0.953000	0.61014	7.200000	0.77838	1.287000	0.44583	0.563000	0.77884	GTT		0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			13	36	0	0	0	1	0	13	36				
CCDC88B	283234	broad.mit.edu	37	11	64109501	64109501	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:64109501C>T	ENST00000356786.5	+	8	755	c.711C>T	c.(709-711)ctC>ctT	p.L237L	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	237						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGAACCCCTCTGCTTGAGGC	0.652																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(709-711)ctC>ctT		coiled-coil domain containing 88B							29.0	28.0	28.0					11																	64109501		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109501C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.711C>T	11.37:g.64109501C>T						CCDC88B_ENST00000463837.1_3'UTR	p.L237L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	755	+			237					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.711C>T	CCDS8072.2																																																																																				0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	40	0	0	0	1	0	4	40				
RAD9A	5883	broad.mit.edu	37	11	67163752	67163752	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:67163752C>G	ENST00000307980.2	+	9	846	c.753C>G	c.(751-753)atC>atG	p.I251M	PPP1CA_ENST00000532446.1_5'Flank|RAD9A_ENST00000535644.1_3'UTR|RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	251					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTTCACCATCAAGGACTCTT	0.637								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(751-753)atC>atG	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							143.0	144.0	144.0					11																	67163752		2200	4295	6495	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67163752C>G	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.753C>G	11.37:g.67163752C>G	ENSP00000311360:p.Ile251Met					RAD9A_ENST00000535644.1_3'UTR	p.I251M	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		9	846	+			251					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.753C>G	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125497	0.20959	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.23552	1.9;1.9	4.64	-7.36	0.01417	.	0.561327	0.18043	N	0.153552	T	0.20700	0.0498	L	0.43923	1.385	0.09310	N	0.999997	B;B	0.19073	0.027;0.033	B;B	0.39185	0.137;0.293	T	0.40646	-0.9552	10	0.31617	T	0.26	-3.4826	7.9858	0.30212	0.0:0.1207:0.3304:0.5488	.	237;251	F5H4F1;Q99638	.;RAD9A_HUMAN	M	251;237	ENSP00000311360:I251M;ENSP00000444979:I237M	ENSP00000311360:I251M	I	+	3	3	RAD9A	66920328	0.002000	0.14202	0.002000	0.10522	0.958000	0.62258	-0.334000	0.07883	-1.261000	0.02462	0.561000	0.74099	ATC		0.637	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		24	289	0	0	0	1	0	24	289				
ACACA	31	broad.mit.edu	37	17	35641860	35641860	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:35641860G>C	ENST00000394406.2	-	4	429	c.239C>G	c.(238-240)tCt>tGt	p.S80C	ACACA_ENST00000360679.3_Missense_Mutation_p.S22C|ACACA_ENST00000353139.5_Missense_Mutation_p.S117C|ACACA_ENST00000335166.5_Missense_Mutation_p.S2C|ACACA_ENST00000416895.1_3'UTR	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	80					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTGCAAGCCAGACATGCTGGA	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(349-351)tCt>tGt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						87.0	93.0	91.0					17																	35641860		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35641860G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.239C>G	17.37:g.35641860G>C	ENSP00000377928:p.Ser80Cys					ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.S80C|ACACA_ENST00000360679.3_Missense_Mutation_p.S22C|ACACA_ENST00000335166.5_Missense_Mutation_p.S2C	p.S117C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			4	831	-		Breast(25;0.00157)|Ovarian(249;0.15)	80			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.350C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988154	0.93106	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066;ENST00000394403;ENST00000451642;ENST00000413318	T;D;T;D;T	0.95788	0.78;-3.77;0.78;-3.81;0.78	5.49	5.49	0.81192	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96037	0.8709	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.996;0.991;0.998	D;P;D	0.67382	0.944;0.662;0.951	D	0.96877	0.9643	10	0.87932	D	0	-12.6086	19.3798	0.94527	0.0:0.0:1.0:0.0	.	117;80;22	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	117;22;80;104;2;2;2;80;2	ENSP00000344789:S117C;ENSP00000353898:S22C;ENSP00000377928:S80C;ENSP00000335323:S2C;ENSP00000397282:S80C	ENSP00000335323:S2C	S	-	2	0	ACACA	32715973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.802000	0.99131	2.563000	0.86464	0.650000	0.86243	TCT		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		12	74	0	0	0	1	0	12	74				
PEX14	5195	broad.mit.edu	37	1	10535035	10535035	+	Silent	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:10535035G>C	ENST00000356607.4	+	1	92	c.12G>C	c.(10-12)tcG>tcC	p.S4S	PEX14_ENST00000538836.1_5'UTR|DFFA_ENST00000377036.2_5'Flank|DFFA_ENST00000377038.3_5'Flank	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	4					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGTCCTCGGAGCAGGCAG	0.692																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(10-12)tcG>tcC		peroxisomal biogenesis factor 14							21.0	23.0	23.0					1																	10535035		2194	4290	6484	SO:0001819	synonymous_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10535035G>C	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.12G>C	1.37:g.10535035G>C						PEX14_ENST00000538836.1_5'UTR	p.S4S	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	1	92	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	4					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	ENST00000356607.4	37	c.12G>C	CCDS30582.1																																																																																				0.692	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			6	15	0	0	0	1	0	6	15				
NDP	4693	broad.mit.edu	37	X	43809195	43809195	+	Silent	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:43809195G>C	ENST00000378062.5	-	3	659	c.252C>G	c.(250-252)gtC>gtG	p.V84V	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	84	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						GTTGCTTGAGGACAGTGCTGA	0.627											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378062.5																			0				kidney(1)|lung(2)	3						c.(250-252)gtC>gtG		Norrie disease (pseudoglioma)							66.0	46.0	53.0					X																	43809195		2202	4298	6500	SO:0001819	synonymous_variant	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43809195G>C	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"""Endogenous ligands"""	7678	protein-coding gene	gene with protein product		300658	"""exudative vitreoretinopathy 2 (X-linked)"""	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.252C>G	X.37:g.43809195G>C			OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	p.V84V	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN			3	659	-			84			CTCK.		B2R8K6|Q5JYH5	Silent	SNP	ENST00000378062.5	37	c.252C>G	CCDS14262.1																																																																																				0.627	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		6	17	0	0	0	1	0	6	17				
PKN1	5585	broad.mit.edu	37	19	14568886	14568886	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:14568886G>T	ENST00000242783.6	+	8	1374	c.1209G>T	c.(1207-1209)ggG>ggT	p.G403G	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Silent_p.G409G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	403	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTGGTGGGGCAGACGTCTT	0.572																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1207-1209)ggG>ggT		protein kinase N1							142.0	141.0	142.0					19																	14568886		2022	4193	6215	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14568886G>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1209G>T	19.37:g.14568886G>T						PKN1_ENST00000342216.4_Silent_p.G409G	p.G403G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			8	1374	+			403			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1209G>T	CCDS42513.1																																																																																				0.572	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		53	234	1	0	8.28887e-21	1	9.2223e-21	53	234				
GABRQ	55879	broad.mit.edu	37	X	151808895	151808895	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:151808895G>C	ENST00000370306.2	+	2	226	c.206G>C	c.(205-207)aGa>aCa	p.R69T		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	69					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGCTGTCAAGATACGATGTC	0.473																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(205-207)aGa>aCa		gamma-aminobutyric acid (GABA) A receptor, theta							181.0	156.0	164.0					X																	151808895		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151808895G>C	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.206G>C	X.37:g.151808895G>C	ENSP00000359329:p.Arg69Thr						p.R69T	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			2	226	+	Acute lymphoblastic leukemia(192;6.56e-05)		69					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.206G>C	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	5.495	0.276352	0.10403	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.77620	-1.11	4.45	-0.145	0.13436	Neurotransmitter-gated ion-channel ligand-binding (3);	2.450300	0.01439	N	0.015030	T	0.59238	0.2179	N	0.13003	0.285	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40117	-0.9580	10	0.14656	T	0.56	.	3.8794	0.09071	0.5217:0.2:0.2782:0.0	.	69	Q9UN88	GBRT_HUMAN	T	69;64	ENSP00000359329:R69T	ENSP00000331410:R64T	R	+	2	0	GABRQ	151559551	0.113000	0.22115	0.000000	0.03702	0.827000	0.46813	0.523000	0.22925	-0.434000	0.07275	0.529000	0.55759	AGA		0.473	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		11	145	0	0	0	1	0	11	145				
CTTN	2017	broad.mit.edu	37	11	70263192	70263192	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:70263192C>A	ENST00000301843.8	+	8	737	c.531C>A	c.(529-531)gaC>gaA	p.D177E	CTTN_ENST00000346329.3_Missense_Mutation_p.D177E|CTTN_ENST00000376561.3_Missense_Mutation_p.D177E	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	177					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGGGCTTCGACTACCAGGGCA	0.587																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(529-531)gaC>gaA		cortactin							132.0	115.0	121.0					11																	70263192		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70263192C>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.531C>A	11.37:g.70263192C>A	ENSP00000301843:p.Asp177Glu					CTTN_ENST00000376561.3_Missense_Mutation_p.D177E|CTTN_ENST00000301843.8_Missense_Mutation_p.D177E	p.D177E	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	8	839	+			177					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.531C>A	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.587583|3.587583	0.66105|0.66105	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561|ENST00000415461	T;T;T|.	0.38240|.	1.22;1.28;1.15|.	5.43|5.43	-2.0|-2.0	0.07433|0.07433	.|.	0.304667|.	0.38959|.	N|.	0.001503|.	T|T	0.30854|0.30854	0.0778|0.0778	N|N	0.13352|0.13352	0.335|0.335	0.80722|0.80722	D|D	1|1	D;D;P|.	0.65815|.	0.984;0.995;0.752|.	P;D;B|.	0.64237|.	0.858;0.923;0.401|.	T|T	0.08371|0.08371	-1.0725|-1.0725	10|5	0.20046|.	T|.	0.44|.	-36.6129|-36.6129	5.2387|5.2387	0.15460|0.15460	0.0:0.1886:0.3051:0.5063|0.0:0.1886:0.3051:0.5063	.|.	177;177;177|.	Q96H99;Q14247;Q8N707|.	.;SRC8_HUMAN;.|.	E|N	177|159	ENSP00000317189:D177E;ENSP00000301843:D177E;ENSP00000365745:D177E|.	ENSP00000301843:D177E|.	D|T	+|+	3|2	2|0	CTTN|CTTN	69940840|69940840	0.997000|0.997000	0.39634|0.39634	0.992000|0.992000	0.48379|0.48379	0.732000|0.732000	0.41865|0.41865	0.384000|0.384000	0.20668|0.20668	0.018000|0.018000	0.15052|0.15052	0.655000|0.655000	0.94253|0.94253	GAC|ACT		0.587	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		15	148	1	0	2.23348e-06	1	2.35757e-06	15	148				
CPNE8	144402	broad.mit.edu	37	12	39268294	39268294	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:39268294T>C	ENST00000331366.5	-	2	214	c.118A>G	c.(118-120)Aca>Gca	p.T40A	CPNE8_ENST00000360449.3_Missense_Mutation_p.T28A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	40	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTAGAAAATGTGTCTCTGTCA	0.264																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(118-120)Aca>Gca		copine VIII							46.0	53.0	50.0					12																	39268294		2203	4298	6501	SO:0001583	missense	144402							g.chr12:39268294T>C	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.118A>G	12.37:g.39268294T>C	ENSP00000329748:p.Thr40Ala					CPNE8_ENST00000360449.3_Missense_Mutation_p.T28A	p.T40A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			2	214	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	40			C2 1.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.118A>G	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484838	0.26598	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.68479	-0.33;-0.33	4.43	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	L	0.39633	1.23	0.39878	D	0.973603	P	0.36837	0.571	B	0.39935	0.314	T	0.58836	-0.7566	10	0.32370	T	0.25	-14.1099	10.6346	0.45558	0.0:0.0:0.0:1.0	.	40	Q86YQ8	CPNE8_HUMAN	A	40;28	ENSP00000329748:T40A;ENSP00000353633:T28A	ENSP00000329748:T40A	T	-	1	0	CPNE8	37554561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.111000	0.57838	1.941000	0.56285	0.477000	0.44152	ACA		0.264	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		9	31	0	0	0	1	0	9	31				
GRK4	2868	broad.mit.edu	37	4	3037154	3037154	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:3037154C>T	ENST00000398052.4	+	13	1654	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	GRK4_ENST00000509545.1_Intron|GRK4_ENST00000398051.4_Silent_p.G405G|GRK4_ENST00000345167.6_Silent_p.G405G|GRK4_ENST00000504933.1_Silent_p.G437G	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCAGGGGCGAGGGAGCGG	0.537																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(1309-1311)ggC>ggT		G protein-coupled receptor kinase 4							68.0	69.0	69.0					4																	3037154		2203	4300	6503	SO:0001819	synonymous_variant	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3037154C>T		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1311C>T	4.37:g.3037154C>T						GRK4_ENST00000398051.4_Silent_p.G405G|GRK4_ENST00000504933.1_Silent_p.G437G|GRK4_ENST00000345167.6_Silent_p.G405G|GRK4_ENST00000509545.1_Intron	p.G437G	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	1654	+			437			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	c.1311C>T	CCDS33946.1																																																																																				0.537	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		18	69	0	0	0	1	0	18	69				
CCDC178	374864	broad.mit.edu	37	18	30791922	30791922	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:30791922C>G	ENST00000383096.3	-	20	2358	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	CCDC178_ENST00000403303.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E726Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.E688Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.E726Q			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	726																	TGATCTTCCTCAAAGATTCTC	0.328																																						ENST00000383096.3																			0											c.(2176-2178)Gag>Cag		coiled-coil domain containing 178							114.0	109.0	110.0					18																	30791922		2202	4300	6502	SO:0001583	missense	374864							g.chr18:30791922C>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2176G>C	18.37:g.30791922C>G	ENSP00000372576:p.Glu726Gln					CCDC178_ENST00000300227.8_Missense_Mutation_p.E688Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E726Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.E726Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.E726Q	p.E726Q							20	2358	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2176G>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	3.895	-0.023206	0.07634	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.16073	2.42;2.42;2.43;2.46;2.37	3.97	2.14	0.27477	.	.	.	.	.	T	0.28300	0.0699	L	0.50333	1.59	0.09310	N	1	P;D;P;P;P	0.76494	0.851;0.999;0.851;0.582;0.851	P;D;P;B;P	0.71656	0.546;0.974;0.546;0.282;0.546	T	0.08743	-1.0707	9	0.32370	T	0.25	-1.1415	5.376	0.16166	0.0:0.6808:0.2071:0.1121	.	726;726;726;688;726	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	Q	726;726;688;726;726	ENSP00000385591:E726Q;ENSP00000372576:E726Q;ENSP00000300227:E688Q;ENSP00000385867:E726Q;ENSP00000385234:E726Q	ENSP00000300227:E688Q	E	-	1	0	C18orf34	29045920	0.022000	0.18835	0.009000	0.14445	0.004000	0.04260	0.971000	0.29396	0.622000	0.30249	-0.282000	0.10007	GAG		0.328	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		4	30	0	0	0	1	0	4	30				
DUSP18	150290	broad.mit.edu	37	22	31059456	31059456	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr22:31059456C>G	ENST00000334679.3	-	2	1040	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	DUSP18_ENST00000407308.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000403268.1_3'UTR	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	179					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTTCCTTCTCATAGATGTCA	0.488																																						ENST00000334679.3																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(535-537)Gag>Cag		dual specificity phosphatase 18							101.0	98.0	99.0					22																	31059456		2203	4300	6503	SO:0001583	missense	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059456C>G	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.535G>C	22.37:g.31059456C>G	ENSP00000333917:p.Glu179Gln					DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.E179Q|DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000404885.1_Missense_Mutation_p.E179Q	p.E179Q	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN			2	1040	-			179					B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.535G>C	CCDS13883.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269628	0.59540	.	.	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679	T;T;T	0.03553	3.89;3.89;3.89	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	M	0.87456	2.885	0.80722	D	1	B	0.25904	0.137	B	0.22753	0.041	T	0.01249	-1.1406	10	0.56958	D	0.05	.	14.6412	0.68726	0.0:0.8537:0.1462:0.0	.	179	Q8NEJ0	DUS18_HUMAN	Q	179	ENSP00000385463:E179Q;ENSP00000386063:E179Q;ENSP00000333917:E179Q	ENSP00000333917:E179Q	E	-	1	0	DUSP18	29389456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.951000	0.56684	2.388000	0.81334	0.655000	0.94253	GAG		0.488	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			14	51	0	0	0	1	0	14	51				
PIK3AP1	118788	broad.mit.edu	37	10	98392731	98392731	+	Intron	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:98392731C>T	ENST00000339364.5	-	9	1495				PIK3AP1_ENST00000371109.3_Missense_Mutation_p.G29E|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371110.2_Intron	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1						negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		agctggtcttcctttgagcca	0.493																																						ENST00000371109.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(85-87)gGa>gAa		phosphoinositide-3-kinase adaptor protein 1							83.0	77.0	79.0					10																	98392731		876	1991	2867	SO:0001627	intron_variant	118788					cytoplasm|plasma membrane		g.chr10:98392731C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1376-4481G>A	10.37:g.98392731C>T						PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000339364.5_Intron	p.G29E			Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	1	267	-		Colorectal(252;0.0442)	0					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.86G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	4.353	0.064969	0.08388	.	.	ENSG00000155629	ENST00000371109	T	0.27104	1.69	2.43	1.49	0.22878	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.09310	N	1	P	0.52316	0.952	B	0.34991	0.193	T	0.15752	-1.0426	8	0.87932	D	0	.	6.5371	0.22361	0.2837:0.7163:0.0:0.0	.	29	Q6ZUJ8-3	.	E	29	ENSP00000360150:G29E	ENSP00000360150:G29E	G	-	2	0	PIK3AP1	98382721	0.001000	0.12720	0.003000	0.11579	0.017000	0.09413	0.319000	0.19522	0.558000	0.29135	0.555000	0.69702	GGA		0.493	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		8	54	0	0	0	1	0	8	54				
FAT4	79633	broad.mit.edu	37	4	126398448	126398448	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:126398448G>T	ENST00000394329.3	+	13	12445	c.12432G>T	c.(12430-12432)ctG>ctT	p.L4144L	FAT4_ENST00000335110.5_Silent_p.L2407L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4144	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGGCCTCTGGAACCCAGCC	0.408																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12430-12432)ctG>ctT		FAT atypical cadherin 4							147.0	147.0	147.0					4																	126398448		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126398448G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12432G>T	4.37:g.126398448G>T						FAT4_ENST00000335110.5_Silent_p.L2407L	p.L4144L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			13	12445	+			4144			Laminin G-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.12432G>T	CCDS3732.3																																																																																				0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	115	1	0	5.3912e-06	1	5.64249e-06	18	115				
ZNF662	389114	broad.mit.edu	37	3	42956616	42956616	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:42956616C>A	ENST00000541208.1	+	5	1420	c.1051C>A	c.(1051-1053)Cag>Aag	p.Q351K	ZNF662_ENST00000440367.2_Missense_Mutation_p.Q351K|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Q377K			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTCAGCACCAGAGGGTCCA	0.483																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1051-1053)Cag>Aag		zinc finger protein 662							83.0	80.0	81.0					3																	42956616		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956616C>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1051C>A	3.37:g.42956616C>A	ENSP00000446208:p.Gln351Lys					ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.Q351K|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.Q377K	p.Q351K			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1420	+			351					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1051C>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962801	0.34659	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.17528	2.27;2.27;2.27	3.27	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	N	0.17345	0.48	0.22330	N	0.9992	B;B	0.26147	0.117;0.143	B;B	0.21360	0.02;0.034	T	0.17899	-1.0354	9	0.35671	T	0.21	.	12.4046	0.55432	0.0:1.0:0.0:0.0	.	377;351	F8W7S8;Q6ZS27	.;ZN662_HUMAN	K	351;377;351	ENSP00000405047:Q351K;ENSP00000329264:Q377K;ENSP00000446208:Q351K	ENSP00000329264:Q377K	Q	+	1	0	ZNF662	42931620	0.002000	0.14202	0.998000	0.56505	0.995000	0.86356	0.284000	0.18864	1.852000	0.53769	0.650000	0.86243	CAG		0.483	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		4	57	1	0	0.00909568	1	0.0092454	4	57				
FAAH2	158584	broad.mit.edu	37	X	57367792	57367792	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:57367792C>G	ENST00000374900.4	+	5	831	c.711C>G	c.(709-711)ttC>ttG	p.F237L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	237						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CTGCTTTCTTCAATGGTATAT	0.423										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(709-711)ttC>ttG		fatty acid amide hydrolase 2							224.0	205.0	211.0					X																	57367792		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57367792C>G	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.711C>G	X.37:g.57367792C>G	ENSP00000364035:p.Phe237Leu	HNSCC(52;0.14)					p.F237L	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			5	831	+			237					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.711C>G	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388190	0.61956	.	.	ENSG00000165591	ENST00000374900	T	0.56103	0.48	2.21	2.21	0.28008	Amidase signature domain (2);	0.062472	0.64402	U	0.000004	T	0.60025	0.2237	M	0.63428	1.95	0.47547	D	0.999458	D	0.61080	0.989	D	0.64595	0.927	T	0.58612	-0.7606	10	0.46703	T	0.11	.	4.5671	0.12191	0.0:0.7976:0.0:0.2024	.	237	Q6GMR7	FAAH2_HUMAN	L	237	ENSP00000364035:F237L	ENSP00000364035:F237L	F	+	3	2	FAAH2	57384517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.598000	0.36740	1.116000	0.41820	0.600000	0.82982	TTC		0.423	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		25	179	0	0	0	1	0	25	179				
PPP6R3	55291	broad.mit.edu	37	11	68326137	68326137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:68326137C>T	ENST00000393800.2	+	8	1089	c.835C>T	c.(835-837)Cga>Tga	p.R279*	PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000534534.1_Intron	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGAGACACGACGACCAAC	0.348																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(835-837)Cga>Tga		protein phosphatase 6, regulatory subunit 3							111.0	102.0	105.0					11																	68326137		2200	4294	6494	SO:0001587	stop_gained	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68326137C>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.835C>T	11.37:g.68326137C>T	ENSP00000377389:p.Arg279*					PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000534534.1_Intron	p.R279*			Q5H9R7	PP6R3_HUMAN			8	1102	+			279					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	c.835C>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	39	7.760173	0.98474	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	.	.	.	5.45	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4491	0.50142	0.3414:0.6586:0.0:0.0	.	.	.	.	X	279;279;279;279;279;279;279;279;279;10	.	ENSP00000265636:R279X	R	+	1	2	PPP6R3	68082713	0.778000	0.28640	0.905000	0.35620	0.950000	0.60333	1.391000	0.34475	2.836000	0.97738	0.655000	0.94253	CGA		0.348	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		11	90	0	0	0	1	0	11	90				
ASAP2	8853	broad.mit.edu	37	2	9496196	9496196	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:9496196C>G	ENST00000281419.3	+	13	1472	c.1132C>G	c.(1132-1134)Caa>Gaa	p.Q378E	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q378E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	378	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTACCACTTTCAAGCTGAAGA	0.413																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1132-1134)Caa>Gaa		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							180.0	168.0	172.0					2																	9496196		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9496196C>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1132C>G	2.37:g.9496196C>G	ENSP00000281419:p.Gln378Glu					ASAP2_ENST00000315273.4_Missense_Mutation_p.Q378E	p.Q378E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			13	1472	+			378			PH.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1132C>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710619	0.89112	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.75367	-0.93;-0.93	4.96	4.96	0.65561	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88994	0.6589	M	0.91612	3.225	0.80722	D	1	D;D	0.55385	0.964;0.971	D;D	0.69654	0.941;0.965	D	0.91025	0.4860	10	0.62326	D	0.03	.	18.3943	0.90493	0.0:1.0:0.0:0.0	.	378;378	O43150-2;O43150	.;ASAP2_HUMAN	E	378	ENSP00000281419:Q378E;ENSP00000316404:Q378E	ENSP00000281419:Q378E	Q	+	1	0	ASAP2	9413647	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	7.599000	0.82757	2.544000	0.85801	0.655000	0.94253	CAA		0.413	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		9	86	0	0	0	1	0	9	86				
ODF2	4957	broad.mit.edu	37	9	131231550	131231550	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:131231550A>G	ENST00000434106.3	+	5	701	c.338A>G	c.(337-339)gAt>gGt	p.D113G	ODF2_ENST00000546203.1_Missense_Mutation_p.D94G|ODF2_ENST00000372807.5_Missense_Mutation_p.D108G|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000604420.1_Missense_Mutation_p.D113G|ODF2_ENST00000444119.2_Missense_Mutation_p.D89G|ODF2_ENST00000372791.3_Missense_Mutation_p.D94G|ODF2_ENST00000372814.3_Missense_Mutation_p.D157G|ODF2_ENST00000393533.2_Missense_Mutation_p.D113G|ODF2_ENST00000393527.3_Missense_Mutation_p.D89G|ODF2_ENST00000351030.3_Missense_Mutation_p.D108G|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000535026.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	113					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACAGAAGATGATGACTCAGGT	0.468																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(265-267)gAt>gGt		outer dense fiber of sperm tails 2							193.0	168.0	177.0					9																	131231550		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131231550A>G	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.338A>G	9.37:g.131231550A>G	ENSP00000403453:p.Asp113Gly					ODF2_ENST00000444119.2_Missense_Mutation_p.D89G|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000351030.3_Missense_Mutation_p.D108G|ODF2_ENST00000372814.3_Missense_Mutation_p.D157G|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.D108G|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000434106.2_Missense_Mutation_p.D113G|ODF2_ENST00000546203.1_Missense_Mutation_p.D94G|ODF2_ENST00000372796.4_Missense_Mutation_p.D113G|ODF2_ENST00000393533.2_Missense_Mutation_p.D113G|ODF2_ENST00000372791.3_Missense_Mutation_p.D94G	p.D89G	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			7	851	+			113					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.266A>G	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461228	0.84317	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000372791	T;T;T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.97	5.97	0.96955	.	0.090383	0.85682	D	0.000000	T	0.56307	0.1976	N	0.22421	0.69	0.80722	D	1	B;P;B;P;P;B;P;B	0.40660	0.449;0.51;0.13;0.726;0.515;0.449;0.649;0.277	B;B;B;P;B;B;P;B	0.45538	0.26;0.33;0.112;0.461;0.264;0.26;0.484;0.109	T	0.58244	-0.7670	10	0.44086	T	0.13	-25.5354	15.2656	0.73657	1.0:0.0:0.0:0.0	.	94;108;47;113;108;94;113;89	Q5BJF6-8;Q5BJF6-4;Q5BJF6-2;B4DX73;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	G	113;157;108;113;89;89;113;94;94;94	ENSP00000377166:D113G;ENSP00000361901:D157G;ENSP00000342581:D108G;ENSP00000361882:D113G;ENSP00000307781:D89G;ENSP00000394506:D89G;ENSP00000403453:D113G;ENSP00000437579:D94G;ENSP00000415290:D94G;ENSP00000361877:D94G	ENSP00000307781:D89G	D	+	2	0	ODF2	130271371	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.649000	0.74364	2.285000	0.76669	0.477000	0.44152	GAT		0.468	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			11	99	0	0	0	1	0	11	99				
IFT80	57560	broad.mit.edu	37	3	159996983	159996983	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:159996983T>G	ENST00000326448.7	-	16	2266	c.1834A>C	c.(1834-1836)Aag>Cag	p.K612Q	IFT80_ENST00000483465.1_Missense_Mutation_p.K475Q|IFT80_ENST00000496589.1_Missense_Mutation_p.K475Q|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.K783Q	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	612					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAATTACCTTAACAAAGCGA	0.338																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1834-1836)Aag>Cag		intraflagellar transport 80 homolog (Chlamydomonas)							67.0	65.0	66.0					3																	159996983		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:159996983T>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1834A>C	3.37:g.159996983T>G	ENSP00000312778:p.Lys612Gln					RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.K783Q|IFT80_ENST00000483465.1_Missense_Mutation_p.K475Q|IFT80_ENST00000496589.1_Missense_Mutation_p.K475Q	p.K612Q	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		16	2266	-			612					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1834A>C	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118691	0.56505	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	D;D;D	0.82526	-1.62;-1.62;-1.62	6.01	6.01	0.97437	.	0.084950	0.43747	U	0.000539	T	0.76241	0.3960	L	0.42487	1.325	0.53688	D	0.999976	B	0.33857	0.429	B	0.27170	0.077	T	0.76233	-0.3034	10	0.48119	T	0.1	-10.5683	13.5089	0.61499	0.0:0.0:0.1297:0.8703	.	612	Q9P2H3	IFT80_HUMAN	Q	612;475;475	ENSP00000312778:K612Q;ENSP00000418196:K475Q;ENSP00000420646:K475Q	ENSP00000312778:K612Q	K	-	1	0	IFT80	161479677	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.044000	0.57361	2.307000	0.77673	0.528000	0.53228	AAG		0.338	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		5	43	0	0	0	1	0	5	43				
CHAC2	494143	broad.mit.edu	37	2	53992565	53992565	+	5'Flank	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:53992565C>T	ENST00000295304.4	+	0	0				GPR75-ASB3_ENST00000406687.1_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.E84K|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E87K|GPR75-ASB3_ENST00000394717.2_Intron|GPR75-ASB3_ENST00000263634.3_Missense_Mutation_p.E49K|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)											endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TAAGCTGCTTCATGAATTGGC	0.408																																						ENST00000263634.3																			0											c.(145-147)Gaa>Aaa									203.0	189.0	194.0					2																	53992565		2203	4300	6503	SO:0001631	upstream_gene_variant	100302652				intracellular signal transduction			g.chr2:53992565C>T	BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824		2.37:g.53992565C>T	Exception_encountered					ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E87K|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Missense_Mutation_p.E84K	p.E49K	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN			2	279	-			84					Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	c.145G>A	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992530	0.93167	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000352846;ENST00000446049	T;T;T	0.64085	-0.08;-0.08;-0.08	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.122077	0.53938	D	0.000058	T	0.75525	0.3861	L	0.49513	1.565	0.38700	D	0.952955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.995	T	0.74925	-0.3498	9	0.49607	T	0.09	-23.5557	18.5995	0.91242	0.0:1.0:0.0:0.0	.	49;84;49	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	K	49;84;87;49	ENSP00000263634:E49K;ENSP00000385085:E84K;ENSP00000313756:E87K	ENSP00000263634:E49K	E	-	1	0	ASB3	53846069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.457000	0.66672	2.724000	0.93272	0.462000	0.41574	GAA		0.408	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708		18	130	0	0	0	1	0	18	130				
ECE2	9718	broad.mit.edu	37	3	184008621	184008621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:184008621G>T	ENST00000402825.3	+	16	2161	c.2161G>T	c.(2161-2163)Gag>Tag	p.E721*	ECE2_ENST00000357474.5_Nonsense_Mutation_p.E649*|ECE2_ENST00000404464.3_Nonsense_Mutation_p.E603*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.E574*|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	721	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATGGGCCATGAGTTGACGCA	0.577																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2161-2163)Gag>Tag		endothelin converting enzyme 2							111.0	105.0	107.0					3																	184008621		2203	4300	6503	SO:0001587	stop_gained	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008621G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2161G>T	3.37:g.184008621G>T	ENSP00000384223:p.Glu721*					EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Nonsense_Mutation_p.E603*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.E574*|ECE2_ENST00000357474.5_Nonsense_Mutation_p.E649*	p.E721*	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2161	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		721			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Nonsense_Mutation	SNP	ENST00000402825.3	37	c.2161G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729775	0.89390	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.2815	17.6892	0.88265	0.0:0.0:1.0:0.0	.	.	.	.	X	721;574;603;649;595	.	ENSP00000350066:E649X	E	+	1	0	ECE2	185491315	1.000000	0.71417	0.875000	0.34327	0.526000	0.34562	7.650000	0.83521	2.494000	0.84150	0.561000	0.74099	GAG		0.577	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		11	151	1	0	1.5842e-08	1	1.68663e-08	11	151				
CDK10	8558	broad.mit.edu	37	16	89755672	89755672	+	Missense_Mutation	SNP	C	C	T	rs367799151		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:89755672C>T	ENST00000353379.7	+	2	143	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000514965.1_3'UTR|RP11-368I7.4_ENST00000567544.1_5'Flank|CDK10_ENST00000331006.8_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	34					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGACGATGCCGGAGTGTGAA	0.527																																						ENST00000353379.7																			0				ovary(1)	1						c.(100-102)Cgg>Tgg		cyclin-dependent kinase 10		C	,,,TRP/ARG	0,4396		0,0,2198	176.0	132.0	147.0		,,,100	3.8	1.0	16		147	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,utr-5,utr-5,missense	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	,,,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,,,probably-damaging	,,,34/361	89755672	1,12995	2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89755672C>T	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.100C>T	16.37:g.89755672C>T	ENSP00000338673:p.Arg34Trp					CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR	p.R34W	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	2	143	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	34					A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.100C>T	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365980	0.61513	0.0	1.16E-4	ENSG00000185324	ENST00000393082;ENST00000353379	T	0.45276	0.9	4.77	3.79	0.43588	Protein kinase-like domain (1);	0.053953	0.64402	D	0.000001	T	0.48926	0.1527	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	T	0.54351	-0.8307	10	0.87932	D	0	-24.3639	13.9537	0.64135	0.1532:0.8468:0.0:0.0	.	34;34;34	B7Z319;Q15131;B3KQJ3	.;CDK10_HUMAN;.	W	5;34	ENSP00000338673:R34W	ENSP00000338673:R34W	R	+	1	2	CDK10	88283173	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	1.790000	0.38734	0.949000	0.37715	0.561000	0.74099	CGG		0.527	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			13	64	0	0	0	1	0	13	64				
XRCC1	7515	broad.mit.edu	37	19	44050066	44050066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:44050066C>A	ENST00000262887.5	-	14	2072	c.1525G>T	c.(1525-1527)Gag>Tag	p.E509*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.E478*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	509					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCCCATTCTCCTCCTGGCCA	0.617								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1525-1527)Gag>Tag	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							110.0	97.0	101.0					19																	44050066		2203	4299	6502	SO:0001587	stop_gained	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44050066C>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1525G>T	19.37:g.44050066C>A	ENSP00000262887:p.Glu509*					XRCC1_ENST00000543982.1_Nonsense_Mutation_p.E478*	p.E509*			P18887	XRCC1_HUMAN			14	2072	-		Prostate(69;0.0153)	509					Q6IBS4|Q9HCB1	Nonsense_Mutation	SNP	ENST00000262887.5	37	c.1525G>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175157	0.78564	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	.	.	.	4.96	2.85	0.33270	.	0.436137	0.24134	N	0.041238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-33.086	8.9047	0.35517	0.0:0.8166:0.0:0.1834	.	.	.	.	X	523;509;478	.	ENSP00000262887:E509X	E	-	1	0	XRCC1	48741906	0.025000	0.19082	0.928000	0.36995	0.272000	0.26649	2.590000	0.46154	1.402000	0.46780	0.563000	0.77884	GAG		0.617	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		6	50	1	0	0.00116845	1	0.00119754	6	50				
LRP1	4035	broad.mit.edu	37	12	57553626	57553626	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:57553626G>T	ENST00000243077.3	+	12	2283	c.1817G>T	c.(1816-1818)gGt>gTt	p.G606V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	606					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AATGTGGAGGGTGTGGCCGTG	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(1816-1818)gGt>gTt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						121.0	103.0	109.0					12																	57553626		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57553626G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1817G>T	12.37:g.57553626G>T	ENSP00000243077:p.Gly606Val						p.G606V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	12	2283	+			606					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1817G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529105	0.64860	.	.	ENSG00000123384	ENST00000243077	D	0.94138	-3.36	5.21	5.21	0.72293	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97823	0.9285	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98528	1.0626	10	0.87932	D	0	.	16.6709	0.85266	0.0:0.0:1.0:0.0	.	606	Q07954	LRP1_HUMAN	V	606	ENSP00000243077:G606V	ENSP00000243077:G606V	G	+	2	0	LRP1	55839893	1.000000	0.71417	0.970000	0.41538	0.962000	0.63368	9.623000	0.98386	2.884000	0.98904	0.655000	0.94253	GGT		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		25	84	1	0	3.65163e-15	1	4.00868e-15	25	84				
DYNC1I1	1780	broad.mit.edu	37	7	95614203	95614203	+	Silent	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:95614203G>T	ENST00000324972.6	+	8	901	c.708G>T	c.(706-708)cgG>cgT	p.R236R	DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000457059.1_Silent_p.R219R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTTTGACCGGACAATACGGG	0.403																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(706-708)cgG>cgT		dynein, cytoplasmic 1, intermediate chain 1							107.0	113.0	111.0					7																	95614203		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95614203G>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.708G>T	7.37:g.95614203G>T						DYNC1I1_ENST00000537881.1_Silent_p.R199R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000447467.2_Silent_p.R219R	p.R236R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		8	901	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		236					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.708G>T	CCDS5644.1																																																																																				0.403	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		21	114	1	0	7.41877e-09	1	7.96712e-09	21	114				
ENOX2	10495	broad.mit.edu	37	X	129771375	129771375	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:129771375G>C	ENST00000370927.1	-	9	1247	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*	ENOX2_ENST00000394363.1_Nonsense_Mutation_p.S380*|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.S380*|ENOX2_ENST00000338144.3_Nonsense_Mutation_p.S409*			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	409					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCTGCCTGTGATACTAAGGC	0.408																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1225-1227)tCa>tGa		ecto-NOX disulfide-thiol exchanger 2							130.0	104.0	113.0					X																	129771375		2203	4300	6503	SO:0001587	stop_gained	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771375G>C	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1226C>G	X.37:g.129771375G>C	ENSP00000359965:p.Ser409*					ENOX2_ENST00000370927.1_Nonsense_Mutation_p.S409*|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.S380*|ENOX2_ENST00000394363.1_Nonsense_Mutation_p.S380*	p.S409*	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			12	1643	-			409					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Nonsense_Mutation	SNP	ENST00000370927.1	37	c.1226C>G	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614475	0.96649	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	5.0	5.0	0.66597	.	0.077985	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3338	14.5204	0.67847	0.0:0.0:1.0:0.0	.	.	.	.	X	380;380;409;380;437;409	.	.	S	-	2	0	ENOX2	129599056	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.654000	0.67974	2.303000	0.77524	0.544000	0.68410	TCA		0.408	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		13	72	0	0	0	1	0	13	72				
SLC44A3	126969	broad.mit.edu	37	1	95305516	95305516	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:95305516C>T	ENST00000271227.6	+	7	785	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC44A3_ENST00000527077.1_Missense_Mutation_p.A160V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A180V|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A148V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A192V|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A196V	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	228					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTGTCTTTGGCCATGATGTTT	0.388																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(682-684)gCc>gTc		solute carrier family 44, member 3	Choline(DB00122)						399.0	344.0	362.0					1																	95305516		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95305516C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.683C>T	1.37:g.95305516C>T	ENSP00000271227:p.Ala228Val					SLC44A3_ENST00000529450.1_Missense_Mutation_p.A196V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A180V|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A148V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A192V|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A160V|RP11-465K1.2_ENST00000422162.1_RNA	p.A228V	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	7	785	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	228					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.683C>T	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806336	0.31961	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.16073	2.89;3.08;2.38;2.41;2.89;2.37	5.83	2.89	0.33648	.	0.455529	0.22119	N	0.064369	T	0.03827	0.0108	L	0.33485	1.01	0.36331	D	0.858877	B;B;B;B;B	0.16396	0.008;0.007;0.008;0.008;0.017	B;B;B;B;B	0.11329	0.003;0.006;0.003;0.003;0.004	T	0.26710	-1.0095	10	0.22109	T	0.4	-7.2437	5.6746	0.17741	0.0:0.508:0.2939:0.1981	.	148;192;160;196;228	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	V	192;228;160;196;180;148	ENSP00000389143:A192V;ENSP00000271227:A228V;ENSP00000433641:A160V;ENSP00000431836:A196V;ENSP00000432789:A180V;ENSP00000436661:A148V	ENSP00000271227:A228V	A	+	2	0	SLC44A3	95078104	0.776000	0.28616	1.000000	0.80357	0.988000	0.76386	1.059000	0.30517	0.791000	0.33826	0.650000	0.86243	GCC		0.388	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		12	82	0	0	0	1	0	12	82				
ANO9	338440	broad.mit.edu	37	11	428530	428530	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:428530G>T	ENST00000332826.6	-	13	1214	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	377					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACCACCACGGCCGTGGTCAC	0.677																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1129-1131)gCc>gAc		anoctamin 9							28.0	33.0	32.0					11																	428530		2194	4286	6480	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:428530G>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1130C>A	11.37:g.428530G>T	ENSP00000332788:p.Ala377Asp						p.A377D	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			13	1214	-			377					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1130C>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538030	0.27475	.	.	ENSG00000185101	ENST00000332826	T	0.64618	-0.11	3.73	2.81	0.32909	.	0.820115	0.10666	N	0.648144	T	0.75517	0.3860	M	0.84948	2.725	0.09310	N	1	D;D	0.60575	0.985;0.988	P;P	0.60886	0.735;0.88	T	0.60601	-0.7231	10	0.39692	T	0.17	.	7.0152	0.24885	0.2781:0.0:0.7219:0.0	.	78;377	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	D	377	ENSP00000332788:A377D	ENSP00000332788:A377D	A	-	2	0	ANO9	418530	0.000000	0.05858	0.219000	0.23793	0.099000	0.18886	0.488000	0.22371	0.934000	0.37316	0.451000	0.29950	GCC		0.677	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		7	100	1	0	0.00198382	1	0.00202481	7	100				
MDGA2	161357	broad.mit.edu	37	14	47426585	47426585	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:47426585A>G	ENST00000399232.2	-	9	2238	c.1874T>C	c.(1873-1875)cTt>cCt	p.L625P	MDGA2_ENST00000439988.3_Missense_Mutation_p.L694P|MDGA2_ENST00000426342.1_Missense_Mutation_p.L396P|MDGA2_ENST00000357362.3_Missense_Mutation_p.L396P	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	625	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACCTGTAACAAGAAAGCTGCA	0.343																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1186-1188)cTt>cCt		MAM domain containing glycosylphosphatidylinositol anchor 2							67.0	66.0	67.0					14																	47426585		1833	4088	5921	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426585A>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1874T>C	14.37:g.47426585A>G	ENSP00000382178:p.Leu625Pro					MDGA2_ENST00000357362.3_Missense_Mutation_p.L396P|MDGA2_ENST00000439988.2_Missense_Mutation_p.L625P|MDGA2_ENST00000399232.2_Missense_Mutation_p.L694P	p.L396P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1933	-			625			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1187T>C		.	.	.	.	.	.	.	.	.	.	A	14.86	2.662516	0.47572	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46758	U	0.000279	T	0.49830	0.1580	L	0.57536	1.79	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15870	0.008;0.014	T	0.45542	-0.9254	10	0.36615	T	0.2	.	13.9574	0.64157	1.0:0.0:0.0:0.0	.	396;625	F6W3S7;Q7Z553	.;MDGA2_HUMAN	P	625;396;694;396	ENSP00000400011:L625P;ENSP00000405456:L396P;ENSP00000382178:L694P;ENSP00000349925:L396P	ENSP00000349925:L396P	L	-	2	0	MDGA2	46496335	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	3.607000	0.54102	1.981000	0.57761	0.528000	0.53228	CTT		0.343	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		3	38	0	0	0	1	0	3	38				
USP32	84669	broad.mit.edu	37	17	58258922	58258922	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:58258922C>T	ENST00000300896.4	-	32	4505	c.4311G>A	c.(4309-4311)caG>caA	p.Q1437Q	USP32_ENST00000592339.1_Silent_p.Q1107Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1437	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTCACATATCTGCCCAGCCC	0.547																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4309-4311)caG>caA		ubiquitin specific peptidase 32							58.0	50.0	53.0					17																	58258922		2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58258922C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4311G>A	17.37:g.58258922C>T						USP32_ENST00000592339.1_Silent_p.Q1107Q	p.Q1437Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4505	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1437					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.4311G>A	CCDS32697.1																																																																																				0.547	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		13	61	0	0	0	1	0	13	61				
ZNF679	168417	broad.mit.edu	37	7	63726909	63726909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:63726909G>T	ENST00000421025.1	+	5	1167	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E300*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CACATGTGAAGAATGTGGCAA	0.443																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(898-900)Gaa>Taa		zinc finger protein 679							33.0	32.0	33.0					7																	63726909		692	1591	2283	SO:0001587	stop_gained	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726909G>T	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.898G>T	7.37:g.63726909G>T	ENSP00000416809:p.Glu300*					ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E300*	p.E300*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1167	+			300						Nonsense_Mutation	SNP	ENST00000421025.1	37	c.898G>T	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918308	0.17982	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.81	0.81	0.18732	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.9761	0.24677	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000255746:E300X	E	+	1	0	ZNF679	63364344	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	0.349000	0.20055	0.181000	0.19994	0.184000	0.17185	GAA		0.443	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		24	26	1	0	2.32416e-17	1	2.57429e-17	24	26				
CDH11	1009	broad.mit.edu	37	16	65016096	65016096	+	Missense_Mutation	SNP	C	C	T	rs199720066		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:65016096C>T	ENST00000268603.4	-	8	1723	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	CDH11_ENST00000566827.1_Missense_Mutation_p.V244I|CDH11_ENST00000394156.3_Missense_Mutation_p.V370I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	370	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGATCTTGACGGTCACAGTG	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18137	0.0		0.001	False		,,,				2504	0.0					ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1108-1110)Gtc>Atc		cadherin 11, type 2, OB-cadherin (osteoblast)		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	164.0	133.0	144.0		1108	3.8	0.8	16		144	0,8600		0,0,4300	no	missense	CDH11	NM_001797.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	370/797	65016096	1,13005	2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016096C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1108G>A	16.37:g.65016096C>T	ENSP00000268603:p.Val370Ile	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.V370I|CDH11_ENST00000566827.1_Missense_Mutation_p.V244I	p.V370I			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1561	-		Ovarian(137;0.0973)	370			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1108G>A	CCDS10803.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.14	2.445375	0.43429	2.27E-4	0.0	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.27256	1.68;1.68	5.76	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.224270	0.47093	N	0.000258	T	0.27384	0.0672	L	0.53249	1.67	0.44736	D	0.997731	B;B	0.21821	0.061;0.056	B;B	0.31101	0.028;0.124	T	0.04373	-1.0956	10	0.36615	T	0.2	.	11.8192	0.52228	0.0:0.8582:0.0:0.1418	.	370;370	P55287-2;P55287	.;CAD11_HUMAN	I	370;370;353	ENSP00000268603:V370I;ENSP00000377711:V370I	ENSP00000268603:V370I	V	-	1	0	CDH11	63573597	0.957000	0.32711	0.829000	0.32907	0.897000	0.52465	2.210000	0.42816	0.896000	0.36366	0.655000	0.94253	GTC		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		15	95	0	0	0	1	0	15	95				
DNAH5	1767	broad.mit.edu	37	5	13824339	13824339	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:13824339C>T	ENST00000265104.4	-	39	6652	c.6548G>A	c.(6547-6549)cGt>cAt	p.R2183H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2183					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2183L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCGTAGTACACGCATGACAAT	0.448									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.R2183L(1)	lung(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(6547-6549)cGt>cAt		dynein, axonemal, heavy chain 5							134.0	117.0	123.0					5																	13824339		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13824339C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6548G>A	5.37:g.13824339C>T	ENSP00000265104:p.Arg2183His						p.R2183H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			39	6652	-	Lung NSC(4;0.00476)		2183					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.6548G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231406	0.95207	.	.	ENSG00000039139	ENST00000265104	T	0.32515	1.45	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82604	-0.0375	10	0.87932	D	0	.	19.8904	0.96928	0.0:1.0:0.0:0.0	.	2183	Q8TE73	DYH5_HUMAN	H	2183	ENSP00000265104:R2183H	ENSP00000265104:R2183H	R	-	2	0	DNAH5	13877339	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	7.818000	0.86416	2.697000	0.92050	0.650000	0.86243	CGT		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	60	0	0	0	1	0	13	60				
TRPC5	7224	broad.mit.edu	37	X	111020092	111020092	+	Missense_Mutation	SNP	G	G	A	rs138566611		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:111020092G>A	ENST00000262839.2	-	11	3289	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATTTGGCCCGAGCCCCACCA	0.488																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2371-2373)Cgg>Tgg		transient receptor potential cation channel, subfamily C, member 5							131.0	138.0	136.0					X																	111020092		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111020092G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2371C>T	X.37:g.111020092G>A	ENSP00000262839:p.Arg791Trp						p.R791W	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			11	3289	-			791					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2371C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774264	0.49786	.	.	ENSG00000072315	ENST00000262839	T	0.71579	-0.58	5.71	4.77	0.60923	.	0.436235	0.22314	N	0.061684	T	0.61850	0.2380	L	0.34521	1.04	0.35998	D	0.837177	D	0.58620	0.983	B	0.42653	0.394	T	0.73515	-0.3958	10	0.59425	D	0.04	-14.6117	14.5192	0.67840	0.0:0.0:0.7937:0.2062	.	791	Q9UL62	TRPC5_HUMAN	W	791	ENSP00000262839:R791W	ENSP00000262839:R791W	R	-	1	2	TRPC5	110906748	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	2.014000	0.40951	2.404000	0.81709	0.600000	0.82982	CGG		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		31	253	0	0	0	1	0	31	253				
FAM181B	220382	broad.mit.edu	37	11	82444685	82444685	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:82444685G>A	ENST00000329203.3	-	1	221	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	29										large_intestine(1)|lung(2)|prostate(1)	4						CCAGGGCTCCGAAGGCGCCCC	0.736																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(85-87)ttC>ttT		family with sequence similarity 181, member B							7.0	9.0	8.0					11																	82444685		2161	4265	6426	SO:0001819	synonymous_variant	220382							g.chr11:82444685G>A	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.87C>T	11.37:g.82444685G>A							p.F29F	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	221	-			29					B2RWP1	Silent	SNP	ENST00000329203.3	37	c.87C>T	CCDS31648.1																																																																																				0.736	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		6	17	0	0	0	1	0	6	17				
BPIFA1	51297	broad.mit.edu	37	20	31830292	31830292	+	Splice_Site	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:31830292G>C	ENST00000354297.4	+	8	801		c.e8-1		BPIFA1_ENST00000375413.4_Splice_Site|BPIFA1_ENST00000375422.2_Splice_Site	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1						antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TGTTTGTTTAGACATGCTGAT	0.512																																						ENST00000354297.4																			0											c.e8-1		BPI fold containing family A, member 1							132.0	131.0	131.0					20																	31830292		2203	4300	6503	SO:0001630	splice_region_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31830292G>C	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.731-1G>C	20.37:g.31830292G>C						BPIFA1_ENST00000375422.2_Splice_Site|BPIFA1_ENST00000375413.4_Splice_Site		NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			8	801	+								A8K9R3|E1P5M9|Q9NZT0	Splice_Site	SNP	ENST00000354297.4	37		CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488451	0.26686	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.892	0.58076	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFA1	31293953	0.875000	0.30112	0.361000	0.25849	0.006000	0.05464	2.736000	0.47385	2.759000	0.94783	0.645000	0.84053	.		0.512	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	Intron	4	46	0	0	0	1	0	4	46				
CYP2J2	1573	broad.mit.edu	37	1	60392364	60392364	+	Missense_Mutation	SNP	G	G	C	rs181737961	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:60392364G>C	ENST00000371204.3	-	1	98	c.55C>G	c.(55-57)Cgg>Ggg	p.R19G		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	19					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AGGAGAGTCCGAGGATGGACC	0.657																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(55-57)Cgg>Ggg		cytochrome P450, family 2, subfamily J, polypeptide 2							24.0	30.0	28.0					1																	60392364		2203	4298	6501	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60392364G>C	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.55C>G	1.37:g.60392364G>C	ENSP00000360247:p.Arg19Gly						p.R19G	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			1	98	-	all_cancers(7;0.000396)		19					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.55C>G	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622769	0.28889	.	.	ENSG00000134716	ENST00000371204	T	0.69435	-0.4	5.31	-3.67	0.04476	.	0.628082	0.16098	N	0.229703	T	0.32793	0.0841	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.14559	-1.0468	10	0.19590	T	0.45	.	1.3552	0.02181	0.1519:0.2164:0.2662:0.3655	.	19	P51589	CP2J2_HUMAN	G	19	ENSP00000360247:R19G	ENSP00000360247:R19G	R	-	1	2	CYP2J2	60164952	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.401000	0.07232	-0.972000	0.03559	0.561000	0.74099	CGG		0.657	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		6	49	0	0	0	1	0	6	49				
AGL	178	broad.mit.edu	37	1	100358105	100358105	+	Silent	SNP	T	T	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:100358105T>G	ENST00000294724.4	+	24	3679	c.3201T>G	c.(3199-3201)ccT>ccG	p.P1067P	AGL_ENST00000361302.3_Silent_p.P1051P|AGL_ENST00000370165.3_Silent_p.P1067P|AGL_ENST00000361522.4_Silent_p.P1050P|AGL_ENST00000370161.2_Silent_p.P1051P|AGL_ENST00000370163.3_Silent_p.P1067P|AGL_ENST00000361915.3_Silent_p.P1067P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1067			P -> S (in dbSNP:rs3753494).		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGATGTACCTTATAGGTTAA	0.383																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(3199-3201)ccT>ccG		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							96.0	93.0	94.0					1																	100358105		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100358105T>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3201T>G	1.37:g.100358105T>G						AGL_ENST00000361915.3_Silent_p.P1067P|AGL_ENST00000361302.3_Silent_p.P1051P|AGL_ENST00000361522.4_Silent_p.P1050P|AGL_ENST00000370165.3_Silent_p.P1067P|AGL_ENST00000370163.3_Silent_p.P1067P|AGL_ENST00000370161.2_Silent_p.P1051P	p.P1067P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	24	3679	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1067		P -> S (in dbSNP:rs3753494).			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.3201T>G	CCDS759.1																																																																																				0.383	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		6	28	0	0	0	1	0	6	28				
CMIP	80790	broad.mit.edu	37	16	81712170	81712170	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:81712170G>C	ENST00000537098.3	+	10	1397	c.1325G>C	c.(1324-1326)aGc>aCc	p.S442T	CMIP_ENST00000398040.4_Missense_Mutation_p.S289T|CMIP_ENST00000539778.2_Missense_Mutation_p.S348T|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	442						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						AGCACCATGAGCATCGAGCTG	0.711																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1324-1326)aGc>aCc		c-Maf inducing protein							10.0	13.0	12.0					16																	81712170		2045	4168	6213	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81712170G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1325G>C	16.37:g.81712170G>C	ENSP00000446100:p.Ser442Thr					CMIP_ENST00000539778.2_Missense_Mutation_p.S348T|CMIP_ENST00000398040.4_Missense_Mutation_p.S289T|CMIP_ENST00000566513.1_3'UTR	p.S442T	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			10	1397	+			408					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1325G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863114	0.32884	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09445	2.98;2.98	4.77	4.77	0.60923	.	0.229883	0.45606	D	0.000342	T	0.08403	0.0209	N	0.19112	0.55	0.47547	D	0.999452	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.18650	-1.0330	10	0.39692	T	0.17	.	14.3116	0.66419	0.0:0.1493:0.8507:0.0	.	289;348;442	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	T	442;348;348;255	ENSP00000446100:S442T;ENSP00000440401:S348T	ENSP00000381120:S348T	S	+	2	0	CMIP	80269671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.205000	0.71048	0.561000	0.74099	AGC		0.711	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		4	21	0	0	0	1	0	4	21				
KIAA0232	9778	broad.mit.edu	37	4	6864034	6864034	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:6864034C>G	ENST00000307659.5	+	7	2380	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S642C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	642							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AATGAAGGATCTGGTATAAAC	0.378																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(1924-1926)tCt>tGt		KIAA0232							60.0	58.0	59.0					4																	6864034		1843	4091	5934	SO:0001583	missense	9778						ATP binding	g.chr4:6864034C>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1925C>G	4.37:g.6864034C>G	ENSP00000303928:p.Ser642Cys					KIAA0232_ENST00000425103.1_Missense_Mutation_p.S642C	p.S642C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2380	+			642					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.1925C>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.944689	0.53079	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.335799	0.36409	N	0.002610	T	0.71126	0.3303	L	0.60455	1.87	0.46356	D	0.999005	D	0.61080	0.989	P	0.53313	0.723	T	0.73920	-0.3830	9	0.87932	D	0	-12.3557	18.0797	0.89439	0.0:1.0:0.0:0.0	.	642	Q92628	K0232_HUMAN	C	642	.	ENSP00000303928:S642C	S	+	2	0	KIAA0232	6914935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.200000	0.51051	2.708000	0.92522	0.655000	0.94253	TCT		0.378	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		3	28	0	0	0	1	0	3	28				
GRIK3	2899	broad.mit.edu	37	1	37282705	37282705	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:37282705C>G	ENST00000373091.3	-	13	2063	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	GRIK3_ENST00000373093.4_Missense_Mutation_p.E683Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	683					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCCCCATACTCGATTTTGGTT	0.562																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(2047-2049)Gag>Cag		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						130.0	105.0	113.0					1																	37282705		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37282705C>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2047G>C	1.37:g.37282705C>G	ENSP00000362183:p.Glu683Gln					GRIK3_ENST00000373093.4_Missense_Mutation_p.E683Q	p.E683Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			13	2063	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	683					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2047G>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550811	0.65311	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11277	2.79;2.79	6.16	6.16	0.99307	Ionotropic glutamate receptor (2);	0.052824	0.85682	D	0.000000	T	0.26846	0.0657	L	0.38649	1.16	0.54753	D	0.999985	D;D	0.67145	0.992;0.996	D;D	0.70935	0.971;0.971	T	0.00050	-1.2196	10	0.49607	T	0.09	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	683;683	A9Z1Z8;Q13003	.;GRIK3_HUMAN	Q	683	ENSP00000362183:E683Q;ENSP00000362185:E683Q	ENSP00000362183:E683Q	E	-	1	0	GRIK3	37055292	0.998000	0.40836	0.997000	0.53966	0.952000	0.60782	3.974000	0.56852	2.937000	0.99478	0.650000	0.86243	GAG		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		5	40	0	0	0	1	0	5	40				
CBFA2T2	9139	broad.mit.edu	37	20	32212681	32212681	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr20:32212681C>G	ENST00000346541.3	+	7	1368	c.831C>G	c.(829-831)ctC>ctG	p.L277L	CBFA2T2_ENST00000397800.1_Silent_p.L248L|CBFA2T2_ENST00000342704.6_Silent_p.L268L|CBFA2T2_ENST00000359606.3_Silent_p.L287L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Silent_p.L277L|CBFA2T2_ENST00000492345.1_Silent_p.L248L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	277					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CTGTGCCCCTCATGAATCCCG	0.517																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(829-831)ctC>ctG		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							122.0	100.0	107.0					20																	32212681		2203	4300	6503	SO:0001819	synonymous_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212681C>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.831C>G	20.37:g.32212681C>G						CBFA2T2_ENST00000397800.1_Silent_p.L248L|CBFA2T2_ENST00000375279.2_Silent_p.L277L|CBFA2T2_ENST00000342704.5_Silent_p.L268L|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000359606.3_Silent_p.L287L	p.L277L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			7	1368	+			277					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	ENST00000346541.3	37	c.831C>G	CCDS13221.1																																																																																				0.517	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		36	67	0	0	0	1	0	36	67				
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:152325523G>C	ENST00000388718.5	-	3	4811	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4738-4740)aCt>aGt		filaggrin family member 2							305.0	280.0	288.0					1																	152325523		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325523G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4739C>G	1.37:g.152325523G>C	ENSP00000373370:p.Thr1580Ser					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.T1580S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4811	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1580					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4739C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.723484	0.00700	.	.	ENSG00000143520	ENST00000388718	T	0.15017	2.46	3.8	-0.695	0.11291	.	.	.	.	.	T	0.00608	0.0020	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	9	0.06099	T	0.92	-0.2849	7.9689	0.30115	0.0:0.5936:0.307:0.0994	.	1580	Q5D862	FILA2_HUMAN	S	1580	ENSP00000373370:T1580S	ENSP00000373370:T1580S	T	-	2	0	FLG2	150592147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.383000	0.07858	-2.517000	0.00185	ACT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		5	252	0	0	0	1	0	5	252				
ZNF423	23090	broad.mit.edu	37	16	49669771	49669771	+	Missense_Mutation	SNP	G	G	A	rs202013818	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:49669771G>A	ENST00000561648.1	-	4	3345	c.3292C>T	c.(3292-3294)Cgc>Tgc	p.R1098C	ZNF423_ENST00000562520.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1098C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R981C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R981C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1038C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1098					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGCGCTGCGGGCCATGCAG	0.692													G|||	2	0.000399361	0.0	0.0	5008	,	,		13971	0.002		0.0	False		,,,				2504	0.0					ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3292-3294)Cgc>Tgc		zinc finger protein 423							16.0	17.0	17.0					16																	49669771		2196	4296	6492	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669771G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3292C>T	16.37:g.49669771G>A	ENSP00000455426:p.Arg1098Cys					ZNF423_ENST00000535559.1_Missense_Mutation_p.R981C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1098C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1038C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1038C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R981C	p.R1098C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3345	-		all_cancers(37;0.0155)	1098					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3292C>T	CCDS32445.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.98	3.272208	0.59649	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10477	2.87;2.92	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	L	0.27053	0.805	0.49687	D	0.999814	D	0.69078	0.997	P	0.54706	0.759	T	0.04078	-1.0979	9	.	.	.	-38.9534	11.939	0.52890	0.0:0.0:0.703:0.297	.	1098	Q2M1K9	ZN423_HUMAN	C	1098;981	ENSP00000262383:R1098C;ENSP00000442321:R981C	.	R	-	1	0	ZNF423	48227272	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.771000	0.62318	2.404000	0.81709	0.561000	0.74099	CGC		0.692	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		5	48	0	0	0	1	0	5	48				
NRIP1	8204	broad.mit.edu	37	21	16339064	16339064	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr21:16339064G>C	ENST00000400202.1	-	3	2162	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.Q484E|NRIP1_ENST00000400199.1_Missense_Mutation_p.Q484E			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	484	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GAGGTATCTTGATCTTCTTTG	0.363																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1450-1452)Caa>Gaa		nuclear receptor interacting protein 1							161.0	155.0	157.0					21																	16339064		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339064G>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1450C>G	21.37:g.16339064G>C	ENSP00000383063:p.Gln484Glu					NRIP1_ENST00000318948.4_Missense_Mutation_p.Q484E|NRIP1_ENST00000400199.1_Missense_Mutation_p.Q484E	p.Q484E			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2162	-			484			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1450C>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	8.517	0.867832	0.17250	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18174	2.23;2.23;2.23	5.52	3.57	0.40892	.	0.684509	0.14742	N	0.301123	T	0.13670	0.0331	L	0.36672	1.1	0.29392	N	0.862524	B	0.14012	0.009	B	0.15870	0.014	T	0.14952	-1.0454	10	0.11794	T	0.64	-16.8528	13.424	0.61015	0.0:0.0:0.5625:0.4375	.	484	P48552	NRIP1_HUMAN	E	484	ENSP00000383060:Q484E;ENSP00000383063:Q484E;ENSP00000327213:Q484E	ENSP00000327213:Q484E	Q	-	1	0	NRIP1	15260935	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.784000	0.47774	1.436000	0.47453	0.650000	0.86243	CAA		0.363	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		6	64	0	0	0	1	0	6	64				
STPG2	285555	broad.mit.edu	37	4	98633879	98633879	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr4:98633879C>G	ENST00000295268.3	-	10	1380	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	431																	GGAGTAATCTCTTTGGACTCT	0.383																																						ENST00000295268.3																			0											c.(1291-1293)Gag>Cag		sperm-tail PG-rich repeat containing 2							94.0	96.0	95.0					4																	98633879		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98633879C>G	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1291G>C	4.37:g.98633879C>G	ENSP00000295268:p.Glu431Gln					STPG2_ENST00000506482.1_5'UTR	p.E431Q	NM_174952.2	NP_777612.1					10	1380	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.1291G>C	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	8.051	0.765982	0.15983	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.46819	0.86;2.69	4.92	4.03	0.46877	.	0.093448	0.42964	D	0.000621	T	0.50667	0.1629	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	P	0.60789	0.879	T	0.40001	-0.9586	10	0.25751	T	0.34	-7.0E-4	14.7783	0.69746	0.1444:0.8556:0.0:0.0	.	431	Q8N412	CD037_HUMAN	Q	145;431	ENSP00000428346:E145Q;ENSP00000295268:E431Q	ENSP00000295268:E431Q	E	-	1	0	C4orf37	98852902	0.342000	0.24809	0.010000	0.14722	0.385000	0.30292	1.505000	0.35736	2.420000	0.82092	0.557000	0.71058	GAG		0.383	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		6	40	0	0	0	1	0	6	40				
ABCA13	154664	broad.mit.edu	37	7	48318210	48318210	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:48318210A>T	ENST00000435803.1	+	18	7443	c.7419A>T	c.(7417-7419)gaA>gaT	p.E2473D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2473					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAACATTAGAAATTACTAAGA	0.373																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7417-7419)gaA>gaT		ATP-binding cassette, sub-family A (ABC1), member 13							110.0	112.0	112.0					7																	48318210		1808	4071	5879	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318210A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7419A>T	7.37:g.48318210A>T	ENSP00000411096:p.Glu2473Asp						p.E2473D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7443	+			2473					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7419A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.113699	0.37339	.	.	ENSG00000179869	ENST00000435803	T	0.58358	0.34	5.02	2.59	0.31030	.	0.000000	0.49916	D	0.000127	T	0.39200	0.1069	L	0.34521	1.04	0.09310	N	0.999999	B	0.17667	0.023	B	0.19666	0.026	T	0.26744	-1.0094	10	0.41790	T	0.15	.	9.3268	0.37997	0.6057:0.3943:0.0:0.0	.	2473	Q86UQ4	ABCAD_HUMAN	D	2473	ENSP00000411096:E2473D	ENSP00000411096:E2473D	E	+	3	2	ABCA13	48288756	0.035000	0.19736	0.007000	0.13788	0.188000	0.23474	0.203000	0.17315	0.248000	0.21435	0.533000	0.62120	GAA		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		20	82	0	0	0	1	0	20	82				
ERCC6	2074	broad.mit.edu	37	10	50686430	50686430	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:50686430C>G	ENST00000355832.5	-	11	2334	c.2256G>C	c.(2254-2256)atG>atC	p.M752I	ERCC6_ENST00000542458.1_Missense_Mutation_p.M122I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	752					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAAAGGCTCATCTTGACAT	0.403								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2254-2256)atG>atC	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							274.0	257.0	262.0					10																	50686430		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50686430C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2256G>C	10.37:g.50686430C>G	ENSP00000348089:p.Met752Ile					ERCC6_ENST00000542458.1_Missense_Mutation_p.M122I	p.M752I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			11	2334	-			752					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2256G>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613069	0.46631	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000539110;ENST00000542458	D;T	0.82255	-1.59;-1.34	5.26	5.26	0.73747	SNF2-related (1);	.	.	.	.	T	0.67720	0.2923	N	0.00595	-1.35	0.43489	D	0.995721	P;P	0.50443	0.935;0.706	P;B	0.49953	0.627;0.425	T	0.79478	-0.1787	9	0.37606	T	0.19	-26.9239	18.8584	0.92262	0.0:1.0:0.0:0.0	.	752;161	Q03468;Q59FF6	ERCC6_HUMAN;.	I	752;161;1;122	ENSP00000348089:M752I;ENSP00000445134:M122I	ENSP00000348089:M752I	M	-	3	0	ERCC6	50356436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.975000	0.40569	2.452000	0.82932	0.557000	0.71058	ATG		0.403	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		19	149	0	0	0	1	0	19	149				
UBE2Q2	92912	broad.mit.edu	37	15	76183295	76183295	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:76183295C>T	ENST00000267938.4	+	11	1351	c.969C>T	c.(967-969)atC>atT	p.I323I	UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000569423.1_Silent_p.I288I|UBE2Q2_ENST00000561851.1_Silent_p.I307I	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	323					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AATCGGTCATCATGCAAATAA	0.388																																						ENST00000267938.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						c.(967-969)atC>atT		ubiquitin-conjugating enzyme E2Q family member 2							116.0	119.0	118.0					15																	76183295		2197	4294	6491	SO:0001819	synonymous_variant	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76183295C>T	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.969C>T	15.37:g.76183295C>T						UBE2Q2_ENST00000569423.1_Silent_p.I288I|UBE2Q2_ENST00000338677.4_Intron|UBE2Q2_ENST00000561851.1_Silent_p.I307I	p.I323I	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN			11	1351	+			323					B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Silent	SNP	ENST00000267938.4	37	c.969C>T	CCDS10286.1																																																																																				0.388	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		9	57	0	0	0	1	0	9	57				
HLA-A	3105	broad.mit.edu	37	6	29910357	29910357	+	Silent	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:29910357C>G	ENST00000396634.1	+	3	368	c.27C>G	c.(25-27)ctC>ctG	p.L9L	HLA-A_ENST00000376809.5_Silent_p.L9L|HLA-A_ENST00000376802.2_Silent_p.L9L|HLA-A_ENST00000376806.5_Silent_p.L9L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	9					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCCGAACCCTCCTCCTGCTAC	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(25-27)ctC>ctG		major histocompatibility complex, class I, A							34.0	36.0	36.0					6																	29910357		2203	4295	6498	SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910357C>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.27C>G	6.37:g.29910357C>G		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.L9L|HLA-A_ENST00000376809.5_Silent_p.L9L|HLA-A_ENST00000376806.5_Silent_p.L9L	p.L9L			P30443	1A01_HUMAN			3	368	+			9					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.27C>G	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		19	99	0	0	0	1	0	19	99				
SLC5A5	6528	broad.mit.edu	37	19	17999159	17999159	+	Nonsense_Mutation	SNP	C	C	T	rs371248346		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:17999159C>T	ENST00000222248.3	+	13	1893	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	516					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACGCCAGCCGACCCGCCTT	0.577																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1546-1548)Cga>Tga		solute carrier family 5 (sodium/iodide cotransporter), member 5		C	stop/ARG	0,4406		0,0,2203	117.0	99.0	105.0		1546	2.1	0.0	19		105	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SLC5A5	NM_000453.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		516/644	17999159	1,13005	2203	4300	6503	SO:0001587	stop_gained	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17999159C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1546C>T	19.37:g.17999159C>T	ENSP00000222248:p.Arg516*						p.R516*	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			13	1893	+			516					O43702|Q2M335|Q9NYB6	Nonsense_Mutation	SNP	ENST00000222248.3	37	c.1546C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	39	7.768521	0.98480	0.0	1.16E-4	ENSG00000105641	ENST00000222248	.	.	.	4.64	2.11	0.27256	.	0.918572	0.09162	N	0.840082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8713	0.41175	0.553:0.447:0.0:0.0	.	.	.	.	X	516	.	ENSP00000222248:R516X	R	+	1	2	SLC5A5	17860159	0.789000	0.28775	0.001000	0.08648	0.255000	0.26057	2.153000	0.42282	1.054000	0.40438	0.484000	0.47621	CGA		0.577	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			26	160	0	0	0	1	0	26	160				
FASN	2194	broad.mit.edu	37	17	80041239	80041239	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:80041239C>T	ENST00000306749.2	-	32	5622	c.5404G>A	c.(5404-5406)Gag>Aag	p.E1802K	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1802	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCACTGCTCTCGTTGAAGAAC	0.642																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(5404-5406)Gag>Aag		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						70.0	69.0	70.0					17																	80041239		2202	4298	6500	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80041239C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5404G>A	17.37:g.80041239C>T	ENSP00000304592:p.Glu1802Lys						p.E1802K	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		32	5622	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1802			Enoyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.5404G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	8.902	0.956617	0.18507	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29655	1.56	3.98	1.95	0.26073	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.913447	0.09359	N	0.813004	T	0.25005	0.0607	L	0.39514	1.22	0.23926	N	0.99645	B	0.11235	0.004	B	0.14023	0.01	T	0.26155	-1.0111	10	0.35671	T	0.21	-5.8647	8.2988	0.32001	0.155:0.7612:0.0:0.0839	.	1802	P49327	FAS_HUMAN	K	1802;767	ENSP00000304592:E1802K	ENSP00000304592:E1802K	E	-	1	0	FASN	77634528	0.854000	0.29725	0.001000	0.08648	0.000000	0.00434	3.671000	0.54576	0.350000	0.24002	-0.335000	0.08231	GAG		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	60	0	0	0	1	0	8	60				
AMPD3	272	broad.mit.edu	37	11	10500162	10500162	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:10500162C>T	ENST00000396554.3	+	3	679	c.338C>T	c.(337-339)cCg>cTg	p.P113L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	104					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCAGCCAGTCCGGCCATGTCT	0.592																																						ENST00000396554.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(337-339)cCg>cTg		adenosine monophosphate deaminase 3							99.0	113.0	108.0					11																	10500162		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10500162C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.338C>T	11.37:g.10500162C>T	ENSP00000379802:p.Pro113Leu					AMPD3_ENST00000444303.2_Intron	p.P113L	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	679	+			104					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.338C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096242	0.36952	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.71	5.71	0.89125	.	0.046462	0.85682	D	0.000000	T	0.36880	0.0983	L	0.47716	1.5	0.80722	D	1	B;B;B	0.34399	0.452;0.024;0.452	B;B;B	0.29785	0.107;0.003;0.107	T	0.14062	-1.0486	10	0.10902	T	0.67	-25.4256	13.1095	0.59265	0.0:0.927:0.0:0.073	.	111;104;113	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	104;113;104;104;111;104	ENSP00000432707:P104L;ENSP00000379802:P113L;ENSP00000433284:P104L;ENSP00000379801:P104L;ENSP00000436987:P111L;ENSP00000431648:P104L	ENSP00000379801:P104L	P	+	2	0	AMPD3	10456738	0.999000	0.42202	0.516000	0.27786	0.092000	0.18411	4.801000	0.62532	2.697000	0.92050	0.643000	0.83706	CCG		0.592	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		34	324	0	0	0	1	0	34	324				
BRCA1	672	broad.mit.edu	37	17	41209136	41209136	+	Missense_Mutation	SNP	C	C	G	rs273901753		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41209136C>G	ENST00000357654.3	-	19	5328	c.5210G>C	c.(5209-5211)aGa>aCa	p.R1737T	BRCA1_ENST00000351666.3_Missense_Mutation_p.R554T|BRCA1_ENST00000586385.1_Missense_Mutation_p.R47T|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1690T|BRCA1_ENST00000591534.1_Missense_Mutation_p.R228T|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R633T|BRCA1_ENST00000352993.3_Missense_Mutation_p.R595T|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1758T|BRCA1_ENST00000468300.1_Missense_Mutation_p.R633T|BRCA1_ENST00000309486.4_Missense_Mutation_p.R1441T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1498T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1472T	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1737					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACATCTCCTCTGACTTCAAA	0.433			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(4321-4323)aGa>aCa	Homologous recombination	breast cancer 1, early onset							281.0	260.0	267.0					17																	41209136		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41209136C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5210G>C	17.37:g.41209136C>G	ENSP00000350283:p.Arg1737Thr	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1737T|BRCA1_ENST00000352993.3_Missense_Mutation_p.R595T|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1472T|BRCA1_ENST00000591534.1_Missense_Mutation_p.R228T|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1690T|BRCA1_ENST00000468300.1_Missense_Mutation_p.R633T|BRCA1_ENST00000351666.3_Missense_Mutation_p.R554T|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1498T|BRCA1_ENST00000491747.2_Missense_Mutation_p.R633T|BRCA1_ENST00000586385.1_Missense_Mutation_p.R47T|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1758T	p.R1441T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	18	5349	-		Breast(137;0.000717)	1737					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4322G>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575043	0.65878	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	D;D;D;T;D;D;D;D;D	0.88124	-2.16;-2.34;-2.16;1.0;-2.16;-2.16;-2.16;-2.16;-2.16	5.07	1.5	0.22942	BRCT (1);	0.473977	0.18166	N	0.149627	D	0.84889	0.5572	N	0.17082	0.46	0.29360	N	0.864733	D;P;D;P;D;D;D	0.76494	0.999;0.609;0.979;0.868;0.996;0.976;0.999	D;B;P;P;P;P;D	0.81914	0.995;0.091;0.768;0.653;0.822;0.563;0.952	T	0.77389	-0.2606	10	0.62326	D	0.03	-5.354	5.9252	0.19108	0.0:0.5738:0.0:0.4262	.	586;47;632;633;1759;1737;1737	B4DES0;C6YB45;E7ETR2;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;BRCA1_HUMAN;.	T	1737;1758;1472;595;1498;554;1441;633;586;1759;1690;632	ENSP00000350283:R1737T;ENSP00000326002:R1472T;ENSP00000312236:R595T;ENSP00000246907:R1498T;ENSP00000338007:R554T;ENSP00000310938:R1441T;ENSP00000417148:R633T;ENSP00000377294:R586T;ENSP00000418775:R1690T	ENSP00000310938:R1441T	R	-	2	0	BRCA1	38462662	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	0.095000	0.15127	0.140000	0.18849	0.557000	0.71058	AGA		0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		18	123	0	0	0	1	0	18	123				
FDXACB1	91893	broad.mit.edu	37	11	111749847	111749847	+	Missense_Mutation	SNP	G	G	C	rs199757538		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:111749847G>C	ENST00000260257.4	-	1	57	c.10C>G	c.(10-12)Cgg>Ggg	p.R4G	C11orf1_ENST00000530214.1_5'Flank|C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000524880.1_Missense_Mutation_p.R4G|FDXACB1_ENST00000542429.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	4					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						AGGAGGCGCCGAGGGGCCATG	0.637											OREG0010943|OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17061	0.0		0.0	False		,,,				2504	0.0					ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(10-12)Cgg>Ggg		ALG9, alpha-1,2-mannosyltransferase							26.0	35.0	32.0					11																	111749847		1993	4161	6154	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111749847G>C		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.10C>G	11.37:g.111749847G>C	ENSP00000260257:p.Arg4Gly		OREG0010943|OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	1437	C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_Missense_Mutation_p.R4G	p.R4G			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	1	302	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.10C>G	CCDS44729.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	22.4	4.280832	0.80692	.	.	ENSG00000086848;ENSG00000255561	ENST00000428306;ENST00000260257	T	0.60040	0.22	6.17	3.26	0.37387	.	0.169985	0.50627	D	0.000103	T	0.54191	0.1843	L	0.39085	1.19	0.80722	D	1	D	0.55385	0.971	P	0.51453	0.67	T	0.54159	-0.8335	10	0.87932	D	0	.	8.8688	0.35303	0.0683:0.0:0.6678:0.2639	.	4	Q9BRP7	FDXA1_HUMAN	G	4	ENSP00000260257:R4G	ENSP00000387627:R4G	R	-	1	2	FDXACB1;ALG9	111255057	1.000000	0.71417	0.936000	0.37596	0.858000	0.48976	2.848000	0.48278	0.450000	0.26774	0.655000	0.94253	CGG		0.637	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		4	60	0	0	0	1	0	4	60				
PSMA6	5687	broad.mit.edu	37	14	35778161	35778161	+	Silent	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:35778161G>A	ENST00000261479.4	+	3	333	c.213G>A	c.(211-213)aaG>aaA	p.K71K	PSMA6_ENST00000553809.1_Silent_p.K71K|PSMA6_ENST00000556506.1_Silent_p.K71K|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Silent_p.K52K|KIAA0391_ENST00000557565.1_3'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		ACTTATTCAAGATAACTGAAA	0.299																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(211-213)aaG>aaA		proteasome (prosome, macropain) subunit, alpha type, 6							118.0	128.0	125.0					14																	35778161		2203	4295	6498	SO:0001819	synonymous_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35778161G>A	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.213G>A	14.37:g.35778161G>A						PSMA6_ENST00000540871.1_Silent_p.K52K|PSMA6_ENST00000556506.1_Silent_p.K71K|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000553809.1_Silent_p.K71K|KIAA0391_ENST00000557565.1_3'UTR	p.K71K	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	3	333	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		71					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Silent	SNP	ENST00000261479.4	37	c.213G>A	CCDS9655.1																																																																																				0.299	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			6	86	0	0	0	1	0	6	86				
ATAD5	79915	broad.mit.edu	37	17	29161710	29161710	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:29161710A>C	ENST00000321990.4	+	2	989	c.611A>C	c.(610-612)aAg>aCg	p.K204T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	204					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GACTTCAAAAAGTTGAGAAAA	0.323																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(610-612)aAg>aCg		ATPase family, AAA domain containing 5							77.0	84.0	82.0					17																	29161710		2202	4300	6502	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29161710A>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.611A>C	17.37:g.29161710A>C	ENSP00000313171:p.Lys204Thr					CTD-2349P21.11_ENST00000580873.1_RNA	p.K204T	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			2	989	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	204					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.611A>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	7.883	0.730736	0.15507	.	.	ENSG00000176208	ENST00000321990	T	0.18502	2.21	5.68	-2.93	0.05598	.	1.320840	0.04342	N	0.354164	T	0.10465	0.0256	L	0.31664	0.95	0.09310	N	1	B;B	0.23377	0.084;0.012	B;B	0.16289	0.015;0.007	T	0.25187	-1.0139	10	0.32370	T	0.25	.	2.4193	0.04444	0.4101:0.3219:0.1637:0.1043	.	204;204	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	204	ENSP00000313171:K204T	ENSP00000313171:K204T	K	+	2	0	ATAD5	26185836	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-0.162000	0.10012	-0.754000	0.04715	0.533000	0.62120	AAG		0.323	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		5	100	0	0	0	1	0	5	100				
GCFC2	6936	broad.mit.edu	37	2	75929421	75929421	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:75929421C>T	ENST00000321027.3	-	3	656	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000470503.1_Missense_Mutation_p.E175K|GCFC2_ENST00000541687.1_Missense_Mutation_p.E175K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	175					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										GGGTCATCTTCGCTCTCTCTC	0.453																																						ENST00000321027.3																			0											c.(523-525)Gaa>Aaa		GC-rich sequence DNA-binding factor 2							183.0	172.0	176.0					2																	75929421		2203	4300	6503	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75929421C>T	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.523G>A	2.37:g.75929421C>T	ENSP00000318690:p.Glu175Lys					GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E175K|GCFC2_ENST00000470503.1_Missense_Mutation_p.E175K	p.E175K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN			3	656	-			175					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.523G>A	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	5.227	0.227295	0.09916	.	.	ENSG00000005436	ENST00000321027;ENST00000541687	T;T	0.38722	2.19;1.12	4.49	3.61	0.41365	.	0.738138	0.13295	N	0.398728	T	0.23014	0.0556	L	0.38175	1.15	0.09310	N	1	P;B	0.41673	0.759;0.185	B;B	0.28465	0.09;0.013	T	0.06250	-1.0837	10	0.12766	T	0.61	-0.6144	7.0789	0.25219	0.0:0.7277:0.1742:0.0981	.	175;175	A4UHQ8;P16383	.;GCF_HUMAN	K	175	ENSP00000318690:E175K;ENSP00000437767:E175K	ENSP00000318690:E175K	E	-	1	0	C2orf3	75782929	0.330000	0.24705	0.004000	0.12327	0.004000	0.04260	2.873000	0.48475	1.195000	0.43115	0.591000	0.81541	GAA		0.453	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		24	67	0	0	0	1	0	24	67				
PJA2	9867	broad.mit.edu	37	5	108714761	108714761	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:108714761C>T	ENST00000361189.2	-	4	666	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PJA2_ENST00000511624.1_5'Flank|PJA2_ENST00000361557.3_Missense_Mutation_p.E143K	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	143					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TACTCTCCCTCAGAGTGATTA	0.428																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(427-429)Gag>Aag		praja ring finger 2, E3 ubiquitin protein ligase							100.0	100.0	100.0					5																	108714761		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108714761C>T	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.427G>A	5.37:g.108714761C>T	ENSP00000354775:p.Glu143Lys					PJA2_ENST00000361557.3_Missense_Mutation_p.E143K	p.E143K	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	4	666	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	143					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.427G>A	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134128	0.56828	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05081	3.5;3.5	6.17	6.17	0.99709	.	0.333921	0.28560	N	0.014905	T	0.07638	0.0192	L	0.33485	1.01	0.36256	D	0.854242	P	0.46656	0.882	B	0.41236	0.351	T	0.39643	-0.9604	10	0.27785	T	0.31	-10.4752	18.0354	0.89301	0.0:1.0:0.0:0.0	.	143	O43164	PJA2_HUMAN	K	143	ENSP00000354775:E143K;ENSP00000355284:E143K	ENSP00000354775:E143K	E	-	1	0	PJA2	108742660	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.306000	0.51881	2.941000	0.99782	0.655000	0.94253	GAG		0.428	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		12	53	0	0	0	1	0	12	53				
IMPG2	50939	broad.mit.edu	37	3	100964680	100964680	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:100964680C>T	ENST00000193391.7	-	12	1696	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	503					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAGTCCTTTCCTCAGAAGCCA	0.473																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1507-1509)gaG>gaA		interphotoreceptor matrix proteoglycan 2							94.0	101.0	99.0					3																	100964680		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964680C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1509G>A	3.37:g.100964680C>T							p.E503E	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			12	1696	-			503					A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.1509G>A	CCDS2940.1																																																																																				0.473	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			5	190	0	0	0	1	0	5	190				
CCDC144A	9720	broad.mit.edu	37	17	16593777	16593777	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:16593777C>T	ENST00000360524.8	+	1	139	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667																																						ENST00000443444.2																			0											c.(61-63)taC>taT		coiled-coil domain containing 144A							24.0	27.0	26.0					17																	16593777		2202	4300	6502	SO:0001819	synonymous_variant	9720							g.chr17:16593777C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.63C>T	17.37:g.16593777C>T						CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y	p.Y21Y			A2RUR9	C144A_HUMAN			1	203	+			21					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.63C>T	CCDS45621.1																																																																																				0.667	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			8	31	0	0	0	1	0	8	31				
SOST	50964	broad.mit.edu	37	17	41832885	41832885	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:41832885G>A	ENST00000301691.2	-	2	513	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	156	CTCK.				cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CACCTTGCGCGCGCGCGGCGC	0.711																																						ENST00000301691.2																			0				large_intestine(2)|lung(3)|prostate(1)	6						c.(466-468)gCg>gTg		sclerostin							13.0	16.0	15.0					17																	41832885		2074	4121	6195	SO:0001583	missense	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41832885G>A	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"""sclerosteosis"""			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.467C>T	17.37:g.41832885G>A	ENSP00000301691:p.Ala156Val						p.A156V	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	2	513	-		Breast(137;0.00725)	156			CTCK.		Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.467C>T	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101373	0.76983	.	.	ENSG00000167941	ENST00000301691	T	0.77358	-1.09	4.79	3.75	0.43078	.	0.136846	0.48286	D	0.000190	T	0.58581	0.2132	N	0.08118	0	0.31302	N	0.688175	B	0.22746	0.074	B	0.15484	0.013	T	0.65199	-0.6226	10	0.87932	D	0	-7.9954	12.0905	0.53724	0.0:0.0:0.8285:0.1715	.	156	Q9BQB4	SOST_HUMAN	V	156	ENSP00000301691:A156V	ENSP00000301691:A156V	A	-	2	0	SOST	39188411	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.105000	0.71505	2.208000	0.71279	0.655000	0.94253	GCG		0.711	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		9	49	0	0	0	1	0	9	49				
DDX11	1663	broad.mit.edu	37	12	31256665	31256665	+	Splice_Site	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:31256665G>A	ENST00000407793.2	+	26	2937	c.2686G>A	c.(2686-2688)Gtt>Att	p.V896I	DDX11_ENST00000350437.4_Splice_Site_p.K847K|DDX11_ENST00000545668.1_Splice_Site_p.V896I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Splice_Site_p.K897K|DDX11_ENST00000228264.6_Splice_Site_p.K871K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	896					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGTGCAGAAGGTCAGTCCTA	0.597										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.e26+1		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							93.0	99.0	97.0					12																	31256665		2203	4300	6503	SO:0001630	splice_region_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31256665G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2686+1G>A	12.37:g.31256665G>A		Multiple Myeloma(12;0.14)				DDX11_ENST00000545668.1_Splice_Site_p.V896_splice|DDX11_ENST00000542838.1_Splice_Site_p.K897_splice|DDX11_ENST00000228264.6_Splice_Site_p.K871_splice|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Splice_Site_p.K847_splice	p.V896_splice	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			26	2937	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		896					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000407793.2	37	c.2686_splice	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.70|11.70	1.715747|1.715747	0.30413|0.30413	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000539702|ENST00000407793;ENST00000545668	.|T;T	.|0.72505	.|-0.66;-0.66	2.84|2.84	2.84|2.84	0.33178|0.33178	.|.	.|.	.|.	.|.	.|.	T|T	0.78097|0.78097	0.4230|0.4230	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.52463	.|0.953	.|D	.|0.67548	.|0.952	T|T	0.74362|0.74362	-0.3690|-0.3690	4|8	.|0.23302	.|T	.|0.38	.|.	11.4947|11.4947	0.50402|0.50402	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|896	.|Q96FC9	.|DDX11_HUMAN	N|I	163|896	.|ENSP00000384703:V896I;ENSP00000440402:V896I	.|ENSP00000384703:V896I	S|V	+|+	2|1	0|0	DDX11|DDX11	31147932|31147932	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.069000|0.069000	0.16628|0.16628	8.477000|8.477000	0.90424|0.90424	1.582000|1.582000	0.49881|0.49881	0.430000|0.430000	0.28490|0.28490	AGT|GTT		0.597	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Missense_Mutation	39	108	0	0	0	1	0	39	108				
RBBP7	5931	broad.mit.edu	37	X	16887242	16887242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:16887242G>A	ENST00000380087.2	-	2	478	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	RBBP7_ENST00000404022.1_Nonsense_Mutation_p.Q40*|RBBP7_ENST00000380084.4_Nonsense_Mutation_p.Q84*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	40					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CTGGGCCACTGAAGAGCATGG	0.398																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(118-120)Cag>Tag		retinoblastoma binding protein 7							123.0	107.0	113.0					X																	16887242		2203	4300	6503	SO:0001587	stop_gained	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887242G>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.118C>T	X.37:g.16887242G>A	ENSP00000369427:p.Gln40*					RBBP7_ENST00000404022.1_Nonsense_Mutation_p.Q40*|RBBP7_ENST00000380084.4_Nonsense_Mutation_p.Q84*	p.Q40*			Q16576	RBBP7_HUMAN			2	478	-	Hepatocellular(33;0.0997)		40					Q5JP00	Nonsense_Mutation	SNP	ENST00000380087.2	37	c.118C>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807470	0.90623	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092;ENST00000493145	.	.	.	5.51	4.63	0.57726	.	0.049291	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.4824	10.9747	0.47459	0.0:0.4217:0.5783:0.0	.	.	.	.	X	40;84;40;6;37	.	ENSP00000369424:Q84X	Q	-	1	0	RBBP7	16797163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.743000	0.74848	2.287000	0.76781	0.594000	0.82650	CAG		0.398	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		15	87	0	0	0	1	0	15	87				
ZFYVE16	9765	broad.mit.edu	37	5	79752906	79752906	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:79752906G>C	ENST00000338008.5	+	13	4118	c.3938G>C	c.(3937-3939)aGa>aCa	p.R1313T	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1313T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1313T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1313					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GGCCATCCTAGAAAAGGTGAG	0.368																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3937-3939)aGa>aCa		zinc finger, FYVE domain containing 16							79.0	75.0	76.0					5																	79752906		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79752906G>C	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3938G>C	5.37:g.79752906G>C	ENSP00000337159:p.Arg1313Thr					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1313T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1313T	p.R1313T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	13	4118	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1313					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3938G>C	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192408	0.78902	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.51325	0.71;0.71;0.71	5.76	4.89	0.63831	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000007	T	0.69351	0.3101	M	0.80183	2.485	0.58432	D	0.999995	D;D	0.67145	0.996;0.992	D;D	0.72075	0.967;0.976	T	0.74645	-0.3596	10	0.87932	D	0	-9.3138	14.1924	0.65646	0.0721:0.0:0.9279:0.0	.	123;1313	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	T	1313	ENSP00000337159:R1313T;ENSP00000423663:R1313T;ENSP00000426848:R1313T	ENSP00000337159:R1313T	R	+	2	0	ZFYVE16	79788662	1.000000	0.71417	0.952000	0.39060	0.932000	0.56968	7.536000	0.82023	1.419000	0.47118	0.563000	0.77884	AGA		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	46	0	0	0	1	0	4	46				
METTL25	84190	broad.mit.edu	37	12	82752438	82752438	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:82752438T>A	ENST00000248306.3	+	1	163	c.94T>A	c.(94-96)Tcc>Acc	p.S32T	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	32							methyltransferase activity (GO:0008168)										GGATGCCCTGTCCATTTCCAA	0.612											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248306.3																			0											c.(94-96)Tcc>Acc		methyltransferase like 25							110.0	90.0	97.0					12																	82752438		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82752438T>A	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.94T>A	12.37:g.82752438T>A	ENSP00000248306:p.Ser32Thr		OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1216	CCDC59_ENST00000548126.1_Intron|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000256151.7_5'UTR	p.S32T	NM_032230.2	NP_115606.2					1	163	+								Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.94T>A	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603224	0.28534	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.32515	1.45	5.49	-10.4	0.00318	.	0.677067	0.15484	N	0.259943	T	0.17450	0.0419	L	0.55481	1.735	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.17745	-1.0359	10	0.13108	T	0.6	2.0555	8.3122	0.32077	0.0851:0.572:0.2631:0.0798	.	32	Q8N6Q8	CL026_HUMAN	T	32	ENSP00000248306:S32T	ENSP00000248306:S32T	S	+	1	0	C12orf26	81276569	0.000000	0.05858	0.012000	0.15200	0.092000	0.18411	-1.651000	0.01989	-2.470000	0.00530	-0.321000	0.08615	TCC		0.612	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		39	97	0	0	0	1	0	39	97				
GCNT2	2651	broad.mit.edu	37	6	10557019	10557019	+	Intron	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:10557019C>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.I121M|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CCCAAAATATCTACTGTGTTC	0.418																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(361-363)atC>atG		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							84.0	84.0	84.0					6																	10557019		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10557019C>G	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26950C>G	6.37:g.10557019C>G						GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron	p.I121M	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	780	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	123						Missense_Mutation	SNP	ENST00000379597.3	37	c.363C>G	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940478	0.52972	.	.	ENSG00000111846	ENST00000316170	T	0.12039	2.72	4.89	1.8	0.24995	.	.	.	.	.	T	0.16300	0.0392	M	0.70595	2.14	0.80722	D	1	P	0.36222	0.544	P	0.53988	0.739	T	0.05835	-1.0861	9	0.72032	D	0.01	.	5.0815	0.14659	0.1373:0.5154:0.2678:0.0796	.	121	Q06430	GNT2B_HUMAN	M	121	ENSP00000314844:I121M	ENSP00000314844:I121M	I	+	3	3	GCNT2	10665005	0.068000	0.21057	0.978000	0.43139	0.953000	0.61014	-0.858000	0.04281	1.122000	0.41944	0.655000	0.94253	ATC		0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		14	83	0	0	0	1	0	14	83				
EMR3	84658	broad.mit.edu	37	19	14748918	14748918	+	Splice_Site	SNP	G	G	T	rs149254238		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:14748918G>T	ENST00000253673.5	-	11	1583	c.1483C>A	c.(1483-1485)Cga>Aga	p.R495R	EMR3_ENST00000344373.4_Splice_Site_p.R443R|EMR3_ENST00000599900.1_Splice_Site_p.R280R|EMR3_ENST00000443157.2_Splice_Site_p.R369R	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	495					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R495*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CAAGCTCACCGATCAGCAGTT	0.498																																						ENST00000253673.5																			1	Substitution - Nonsense(1)	p.R495*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.e11+1		egf-like module containing, mucin-like, hormone receptor-like 3							102.0	88.0	93.0					19																	14748918		2203	4300	6503	SO:0001630	splice_region_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14748918G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1484+1C>A	19.37:g.14748918G>T						EMR3_ENST00000443157.2_Splice_Site_p.R369_splice|EMR3_ENST00000599900.1_Splice_Site_p.R280_splice|EMR3_ENST00000344373.4_Splice_Site_p.R443_splice	p.R495_splice	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			11	1583	-			495						Splice_Site	SNP	ENST00000253673.5	37	c.1484_splice	CCDS12315.1																																																																																				0.498	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	Silent	7	109	1	0	5.18039e-06	1	5.44492e-06	7	109				
ATRNL1	26033	broad.mit.edu	37	10	117278774	117278774	+	Splice_Site	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr10:117278774T>A	ENST00000355044.3	+	25	3782	c.3656T>A	c.(3655-3657)aTt>aAt	p.I1219N	ATRNL1_ENST00000423111.2_Splice_Site_p.I270N|ATRNL1_ENST00000303745.7_Splice_Site_p.I12N	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1219					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATTTTTCAGATTGCATTCTCA	0.313																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e25-1		attractin-like 1							104.0	100.0	101.0					10																	117278774		2202	4299	6501	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117278774T>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3655-1T>A	10.37:g.117278774T>A						ATRNL1_ENST00000423111.2_Splice_Site_p.I270_splice|ATRNL1_ENST00000303745.7_Splice_Site_p.I12_splice	p.I1219_splice	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	25	3782	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1219					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37	c.3654_splice	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404771	0.83230	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.47528	0.84;0.84;0.84	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.78049	2.395	0.43080	D	0.994738	D;D	0.67145	0.996;0.979	P;P	0.57548	0.823;0.692	T	0.70472	-0.4862	10	0.87932	D	0	-15.0422	13.996	0.64402	0.0:0.0:0.0:1.0	.	270;1219	B4DH41;Q5VV63	.;ATRN1_HUMAN	N	1219;270;12	ENSP00000347152:I1219N;ENSP00000409624:I270N;ENSP00000307660:I12N	ENSP00000307660:I12N	I	+	2	0	ATRNL1	117268764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.142000	0.71750	2.296000	0.77279	0.482000	0.46254	ATT		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Missense_Mutation	7	9	0	0	0	1	0	7	9				
PENK	5179	broad.mit.edu	37	8	57358464	57358464	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:57358464C>T	ENST00000314922.3	-	1	125	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PENK_ENST00000523051.1_Missense_Mutation_p.G17R|PENK_ENST00000518770.1_Missense_Mutation_p.G17R|PENK_ENST00000523274.1_5'Flank|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_Missense_Mutation_p.G17R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	17					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCCAGGAGCCCGGGGCCGAGC	0.667																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(49-51)Ggg>Agg		proenkephalin							27.0	28.0	27.0					8																	57358464		2202	4295	6497	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57358464C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.49G>A	8.37:g.57358464C>T	ENSP00000324248:p.Gly17Arg					PENK_ENST00000523051.1_Missense_Mutation_p.G17R|PENK_ENST00000451791.2_Missense_Mutation_p.G17R|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000518770.1_Missense_Mutation_p.G17R	p.G17R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		1	125	-		all_lung(136;0.229)	17					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.49G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930083	0.52759	.	.	ENSG00000181195	ENST00000539312;ENST00000517415;ENST00000314922;ENST00000451791;ENST00000518974;ENST00000523051;ENST00000518770	T;T;T	0.74106	-0.81;-0.81;0.95	5.37	3.49	0.39957	.	0.274282	0.41938	D	0.000789	T	0.75428	0.3848	N	0.24115	0.695	0.24686	N	0.993338	D;P	0.89917	1.0;0.898	D;B	0.71656	0.974;0.313	T	0.67998	-0.5525	10	0.56958	D	0.05	-10.7049	11.7683	0.51943	0.5044:0.4955:0.0:0.0	.	17;17	E5RJ72;P01210	.;PENK_HUMAN	R	17;14;17;17;17;17;17	ENSP00000324248:G17R;ENSP00000400894:G17R;ENSP00000428012:G17R	ENSP00000324248:G17R	G	-	1	0	PENK	57521018	0.998000	0.40836	0.999000	0.59377	0.668000	0.39293	1.481000	0.35476	0.574000	0.29417	0.650000	0.86243	GGG		0.667	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			20	66	0	0	0	1	0	20	66				
IFNA2	3440	broad.mit.edu	37	9	21384911	21384911	+	Silent	SNP	G	G	A	rs202153589		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:21384911G>A	ENST00000380206.2	-	1	485	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	140					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CTCACAGCCAGAATGGAGTCC	0.488																																						ENST00000380206.2																			0				breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13						c.(418-420)Ctg>Ttg		interferon, alpha 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						189.0	190.0	189.0					9																	21384911		2203	4300	6503	SO:0001819	synonymous_variant	3440				blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21384911G>A		CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.418C>T	9.37:g.21384911G>A							p.L140L	NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	485	-			140					H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Silent	SNP	ENST00000380206.2	37	c.418C>T	CCDS6506.1																																																																																				0.488	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		26	176	0	0	0	1	0	26	176				
TRIM9	114088	broad.mit.edu	37	14	51561606	51561606	+	Missense_Mutation	SNP	G	G	A	rs573997618		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:51561606G>A	ENST00000298355.3	-	1	1173	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W|TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	18					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ATGGGCTCCCGATAGAAGGAG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14967	0.0		0.0	False		,,,				2504	0.001					ENST00000298355.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(52-54)Cgg>Tgg		tripartite motif containing 9							23.0	28.0	26.0					14																	51561606		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51561606G>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.52C>T	14.37:g.51561606G>A	ENSP00000298355:p.Arg18Trp					TRIM9_ENST00000338969.5_Missense_Mutation_p.R18W|TRIM9_ENST00000360392.4_Missense_Mutation_p.R18W	p.R18W	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN			1	1173	-	all_epithelial(31;0.00418)|Breast(41;0.148)		18					D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.52C>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730465	0.69074	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	D;T;D	0.86432	-2.12;2.2;-2.12	5.24	3.37	0.38596	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.81942	2.565	0.48901	D	0.999723	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.971;0.99;0.948	D	0.92499	0.6007	10	0.66056	D	0.02	.	12.1853	0.54234	0.0:0.0:0.6895:0.3105	.	18;18;18	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	W	18	ENSP00000298355:R18W;ENSP00000342970:R18W;ENSP00000353561:R18W	ENSP00000298355:R18W	R	-	1	2	TRIM9	50631356	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	4.234000	0.58658	0.749000	0.32854	-0.314000	0.08810	CGG		0.627	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		4	31	0	0	0	1	0	4	31				
PCDHAC2	56134	broad.mit.edu	37	5	140347000	140347000	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140347000C>T	ENST00000289269.5	+	1	1181	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCTAGACCGGGAGCAGGC	0.627																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(649-651)Cgg>Tgg									44.0	39.0	41.0					5																	140347000		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347000C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.649C>T	5.37:g.140347000C>T	ENSP00000289269:p.Arg217Trp					PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.R217W	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1181	+			217			Cadherin 2.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.649C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975593	0.53720	.	.	ENSG00000243232	ENST00000289269	T	0.60299	0.2	5.44	3.53	0.40419	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	D	0.000954	D	0.84061	0.5389	H	0.98256	4.185	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90005	0.4117	10	0.87932	D	0	.	14.3664	0.66807	0.2687:0.7313:0.0:0.0	.	217;217	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	W	217	ENSP00000289269:R217W	ENSP00000289269:R217W	R	+	1	2	PCDHAC2	140327184	0.793000	0.28825	1.000000	0.80357	0.991000	0.79684	-0.047000	0.11963	1.237000	0.43756	0.561000	0.74099	CGG		0.627	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		7	55	0	0	0	1	0	7	55				
POLR3E	55718	broad.mit.edu	37	16	22337506	22337506	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:22337506C>G	ENST00000299853.5	+	18	1940	c.1773C>G	c.(1771-1773)agC>agG	p.S591R	POLR3E_ENST00000359210.4_Missense_Mutation_p.S591R|POLR3E_ENST00000418581.2_Missense_Mutation_p.S555R|POLR3E_ENST00000564209.1_Missense_Mutation_p.S591R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	591					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACTTGGCCAGCCTGCCCCCCG	0.602																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1771-1773)agC>agG		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							26.0	29.0	28.0					16																	22337506		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22337506C>G	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1773C>G	16.37:g.22337506C>G	ENSP00000299853:p.Ser591Arg					POLR3E_ENST00000418581.2_Missense_Mutation_p.S555R|POLR3E_ENST00000564209.1_Missense_Mutation_p.S591R|POLR3E_ENST00000359210.4_Missense_Mutation_p.S591R	p.S591R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	18	1940	+			591					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.1773C>G	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581783	0.46006	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.50548	0.75;0.81;0.74	5.56	5.56	0.83823	.	0.168640	0.64402	D	0.000007	T	0.48429	0.1499	M	0.63843	1.955	0.43719	D	0.996192	P;B;B;B;B;P	0.48089	0.684;0.374;0.374;0.321;0.374;0.905	B;B;B;B;B;P	0.45428	0.221;0.145;0.145;0.216;0.145;0.48	T	0.51647	-0.8679	10	0.54805	T	0.06	-9.0419	9.7646	0.40552	0.0:0.8412:0.0:0.1588	.	535;555;591;591;591;591	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	R	591;591;555	ENSP00000299853:S591R;ENSP00000352140:S591R;ENSP00000399254:S555R	ENSP00000299853:S591R	S	+	3	2	POLR3E	22245007	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.098000	0.31000	2.619000	0.88677	0.462000	0.41574	AGC		0.602	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		7	38	0	0	0	1	0	7	38				
LPA	4018	broad.mit.edu	37	6	160999616	160999616	+	Silent	SNP	C	C	A	rs369583851		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr6:160999616C>A	ENST00000316300.5	-	27	4454	c.4410G>T	c.(4408-4410)tcG>tcT	p.S1470S	LPA_ENST00000447678.1_Silent_p.S1470S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3978	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGAGGACACTCGATTCTGTCA	0.507																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4408-4410)tcG>tcT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						162.0	172.0	169.0					6																	160999616		2143	4284	6427	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999616C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4410G>T	6.37:g.160999616C>A						LPA_ENST00000316300.5_Silent_p.S1470S	p.S1470S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4530	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3978			Kringle 13.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4410G>T	CCDS43523.1																																																																																				0.507	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		22	105	1	0	1.66031e-10	1	1.79866e-10	22	105				
TLR8	51311	broad.mit.edu	37	X	12938750	12938750	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:12938750C>T	ENST00000218032.6	+	2	1678	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	TLR8_ENST00000311912.5_Missense_Mutation_p.H549Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	531					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGCCATTCCTCATGTCAAATA	0.363																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1591-1593)Cat>Tat		toll-like receptor 8							54.0	48.0	50.0					X																	12938750		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938750C>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1591C>T	X.37:g.12938750C>T	ENSP00000218032:p.His531Tyr					TLR8_ENST00000311912.5_Missense_Mutation_p.H549Y	p.H531Y	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	1678	+			531					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1591C>T	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	2.648	-0.282540	0.05642	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.46063	0.88;0.88	5.97	3.19	0.36642	.	0.941012	0.08682	N	0.909305	T	0.38026	0.1025	L	0.59436	1.845	0.09310	N	1	P;P	0.42908	0.793;0.793	B;B	0.34489	0.184;0.184	T	0.16660	-1.0395	10	0.59425	D	0.04	.	10.2181	0.43182	0.2256:0.3892:0.3851:0.0	.	531;549	Q9NR97;D1CS70	TLR8_HUMAN;.	Y	531;549	ENSP00000218032:H531Y;ENSP00000312082:H549Y	ENSP00000218032:H531Y	H	+	1	0	TLR8	12848671	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	1.292000	0.33342	0.247000	0.21414	0.600000	0.82982	CAT		0.363	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		6	43	0	0	0	1	0	6	43				
LILRP2	79166	broad.mit.edu	37	19	55221559	55221559	+	RNA	SNP	G	G	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:55221559G>T	ENST00000413439.1	+	0	1339									leukocyte immunoglobulin-like receptor pseudogene 2																		ACGGGGGCCAGTACAGATGCT	0.672																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221559G>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221559G>T														0	1339	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.672	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	79	1	0	3.59834e-05	1	3.71878e-05	4	79				
SLCO1B3	28234	broad.mit.edu	37	12	21015380	21015380	+	Silent	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:21015380C>A	ENST00000381545.3	+	7	735	c.516C>A	c.(514-516)atC>atA	p.I172I	SLCO1B3_ENST00000261196.2_Silent_p.I172I|SLCO1B3_ENST00000553473.1_Silent_p.I172I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.I172I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	172					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ACATGTGGATCTATGTCTTCA	0.358																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(514-516)atC>atA		solute carrier organic anion transporter family, member 1B3							191.0	187.0	189.0					12																	21015380		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015380C>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.516C>A	12.37:g.21015380C>A						LST3_ENST00000540229.1_Silent_p.I172I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.I172I|SLCO1B3_ENST00000261196.2_Silent_p.I172I	p.I172I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			7	735	+	Esophageal squamous(101;0.149)		172					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.516C>A	CCDS8684.1																																																																																				0.358	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		11	73	1	0	0.0167234	1	0.0168599	11	73				
SOHLH2	54937	broad.mit.edu	37	13	36776120	36776120	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:36776120C>T	ENST00000379881.3	-	2	247	c.159G>A	c.(157-159)acG>acA	p.T53T	SOHLH2_ENST00000317764.6_Silent_p.T53T|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.T130T|SOHLH2_ENST00000554962.1_Silent_p.T130T	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	53					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTGCCTCCTTCGTGTCACTGA	0.453																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(157-159)acG>acA		spermatogenesis and oogenesis specific basic helix-loop-helix 2							155.0	119.0	131.0					13																	36776120		2203	4300	6503	SO:0001819	synonymous_variant	54937							g.chr13:36776120C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.159G>A	13.37:g.36776120C>T						CCDC169-SOHLH2_ENST00000511166.1_Silent_p.T130T|SOHLH2_ENST00000317764.6_Silent_p.T53T|SOHLH2_ENST00000554962.1_Silent_p.T130T	p.T53T	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	2	247	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.159G>A	CCDS9355.1																																																																																				0.453	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		10	79	0	0	0	1	0	10	79				
AGTPBP1	23287	broad.mit.edu	37	9	88247959	88247959	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:88247959G>C	ENST00000357081.3	-	14	1777	c.1633C>G	c.(1633-1635)Caa>Gaa	p.Q545E	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q505E|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q557E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.Q383E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	545					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGGGCTGTTTGAGAAGGAATA	0.423																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1633-1635)Caa>Gaa		ATP/GTP binding protein 1							118.0	114.0	116.0					9																	88247959		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88247959G>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1633C>G	9.37:g.88247959G>C	ENSP00000349592:p.Gln545Glu					AGTPBP1_ENST00000432218.1_Missense_Mutation_p.Q383E|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q557E|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q505E	p.Q545E			Q9UPW5	CBPC1_HUMAN			14	1777	-			545					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1633C>G		.	.	.	.	.	.	.	.	.	.	G	0.538	-0.854841	0.02630	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.42513	2.31;2.3;2.28;0.97	5.92	4.97	0.65823	.	0.452244	0.23581	N	0.046646	T	0.21103	0.0508	N	0.12182	0.205	0.20403	N	0.9999	B;B;B;B	0.15719	0.0;0.0;0.014;0.0	B;B;B;B	0.20577	0.0;0.0;0.03;0.0	T	0.21314	-1.0249	10	0.07990	T	0.79	-3.9526	8.6602	0.34088	0.0:0.2297:0.4997:0.2706	.	557;545;383;505	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	E	545;505;557;383	ENSP00000349592:Q545E;ENSP00000365251:Q505E;ENSP00000365277:Q557E;ENSP00000402804:Q383E	ENSP00000349592:Q545E	Q	-	1	0	AGTPBP1	87437779	0.729000	0.28090	0.074000	0.20217	0.720000	0.41350	2.042000	0.41222	2.810000	0.96702	0.650000	0.86243	CAA		0.423	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		6	44	0	0	0	1	0	6	44				
PHF2	5253	broad.mit.edu	37	9	96418829	96418829	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:96418829G>A	ENST00000359246.4	+	9	1466	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	367					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCCCAACTTTGAAACTGCGTG	0.552																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1099-1101)Gaa>Aaa		PHD finger protein 2							131.0	142.0	138.0					9																	96418829		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418829G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1099G>A	9.37:g.96418829G>A	ENSP00000352185:p.Glu367Lys					PHF2_ENST00000375376.4_Intron	p.E367K	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1466	+		Myeloproliferative disorder(762;0.0255)	367					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1099G>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112406	0.94339	.	.	ENSG00000197724	ENST00000359246	T	0.57436	0.4	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79500	-0.1778	10	0.87932	D	0	-27.9351	17.3192	0.87232	0.0:0.0:1.0:0.0	.	367	O75151	PHF2_HUMAN	K	367	ENSP00000352185:E367K	ENSP00000352185:E367K	E	+	1	0	PHF2	95458650	1.000000	0.71417	0.995000	0.50966	0.830000	0.47004	9.548000	0.98103	2.300000	0.77407	0.305000	0.20034	GAA		0.552	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		19	146	0	0	0	1	0	19	146				
CDH7	1005	broad.mit.edu	37	18	63525171	63525171	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr18:63525171T>A	ENST00000397968.2	+	8	1781	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	CDH7_ENST00000536984.2_Missense_Mutation_p.V452D|CDH7_ENST00000323011.3_Missense_Mutation_p.V452D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AATATCACAGTCCTTGCAATG	0.408																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1354-1356)gTc>gAc		cadherin 7, type 2							124.0	107.0	113.0					18																	63525171		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63525171T>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1355T>A	18.37:g.63525171T>A	ENSP00000381058:p.Val452Asp					CDH7_ENST00000323011.3_Missense_Mutation_p.V452D|CDH7_ENST00000397968.2_Missense_Mutation_p.V452D	p.V452D			Q9ULB5	CADH7_HUMAN			8	2049	+		Esophageal squamous(42;0.129)	452			Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1355T>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334540	0.60853	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.71934	-0.61;-0.61;-0.61	4.64	4.64	0.57946	Cadherin (4);Cadherin-like (1);	0.136154	0.48767	D	0.000177	D	0.84920	0.5579	H	0.98818	4.34	0.80722	D	1	P;B	0.39624	0.681;0.033	B;B	0.43225	0.412;0.05	D	0.90156	0.4224	10	0.87932	D	0	.	14.5151	0.67814	0.0:0.0:0.0:1.0	.	452;452	F5H5X9;Q9ULB5	.;CADH7_HUMAN	D	452	ENSP00000319166:V452D;ENSP00000443030:V452D;ENSP00000381058:V452D	ENSP00000319166:V452D	V	+	2	0	CDH7	61676151	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.798000	0.85924	2.083000	0.62718	0.454000	0.30748	GTC		0.408	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		11	42	0	0	0	1	0	11	42				
RORA	6095	broad.mit.edu	37	15	60789691	60789691	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:60789691G>C	ENST00000335670.6	-	11	1635	c.1535C>G	c.(1534-1536)aCt>aGt	p.T512S	RORA_ENST00000261523.5_Missense_Mutation_p.T545S|RORA_ENST00000309157.4_Missense_Mutation_p.T537S|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T457S	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	512	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AAATTCTGAAGTGAACAACTC	0.358																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1534-1536)aCt>aGt		RAR-related orphan receptor A							115.0	100.0	105.0					15																	60789691		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60789691G>C	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1535C>G	15.37:g.60789691G>C	ENSP00000335087:p.Thr512Ser					RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.T457S|RORA_ENST00000261523.5_Missense_Mutation_p.T545S|RORA_ENST00000309157.4_Missense_Mutation_p.T537S	p.T512S	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			11	1635	-			545			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.1535C>G	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	3.705	-0.060796	0.07317	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.93763	-3.25;-3.26;-3.28;-3.21	6.07	6.07	0.98685	Nuclear hormone receptor, ligand-binding (1);	0.100235	0.64402	D	0.000001	D	0.83367	0.5239	N	0.02916	-0.46	0.58432	D	0.999995	B;B;B;B	0.22480	0.002;0.003;0.07;0.001	B;B;B;B	0.20184	0.004;0.004;0.028;0.003	T	0.79738	-0.1677	10	0.02654	T	1	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	512;537;545;457	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	S	512;457;537;545	ENSP00000335087:T512S;ENSP00000402971:T457S;ENSP00000309753:T537S;ENSP00000261523:T545S	ENSP00000261523:T545S	T	-	2	0	RORA	58576983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.990000	0.76225	2.885000	0.99019	0.655000	0.94253	ACT		0.358	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			3	37	0	0	0	1	0	3	37				
CTC1	80169	broad.mit.edu	37	17	8131624	8131624	+	Silent	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:8131624T>C	ENST00000315684.8	-	23	3535	c.3528A>G	c.(3526-3528)ctA>ctG	p.L1176L	RP11-849F2.8_ENST00000602405.1_lincRNA	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1176					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGAATCGCTGTAGCCGAGGAG	0.532																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3526-3528)ctA>ctG		CTS telomere maintenance complex component 1							71.0	80.0	77.0					17																	8131624		2035	4195	6230	SO:0001819	synonymous_variant	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8131624T>C	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3528A>G	17.37:g.8131624T>C							p.L1176L	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			23	3535	-			1176					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	ENST00000315684.8	37	c.3528A>G	CCDS42259.1																																																																																				0.532	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		32	59	0	0	0	1	0	32	59				
ABCG4	64137	broad.mit.edu	37	11	119020845	119020845	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:119020845C>G	ENST00000449422.2	+	2	358	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ABCG4_ENST00000531739.1_Nonsense_Mutation_p.S57*|ABCG4_ENST00000307417.3_Nonsense_Mutation_p.S57*	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	57					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCAAGCGCTCAGCCGTGGAC	0.642																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(169-171)tCa>tGa		ATP-binding cassette, sub-family G (WHITE), member 4							80.0	85.0	83.0					11																	119020845		2200	4295	6495	SO:0001587	stop_gained	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119020845C>G	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.170C>G	11.37:g.119020845C>G	ENSP00000406874:p.Ser57*					ABCG4_ENST00000531739.1_Nonsense_Mutation_p.S57*|ABCG4_ENST00000449422.2_Nonsense_Mutation_p.S57*	p.S57*	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	2	534	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	57					A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Nonsense_Mutation	SNP	ENST00000449422.2	37	c.170C>G	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137419	0.77775	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	.	.	.	4.62	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-9.7055	13.9554	0.64144	0.1529:0.8471:0.0:0.0	.	.	.	.	X	57	.	ENSP00000304111:S57X	S	+	2	0	ABCG4	118526055	1.000000	0.71417	0.691000	0.30163	0.521000	0.34408	7.553000	0.82203	1.119000	0.41883	0.650000	0.86243	TCA		0.642	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		11	128	0	0	0	1	0	11	128				
NPVF	64111	broad.mit.edu	37	7	25267994	25267994	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:25267994G>C	ENST00000222674.2	-	1	111	c.65C>G	c.(64-66)tCa>tGa	p.S22*		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	22					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AAAAATGTTTGATGTTAACAA	0.289																																						ENST00000222674.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(64-66)tCa>tGa		neuropeptide VF precursor							67.0	73.0	71.0					7																	25267994		2200	4295	6495	SO:0001587	stop_gained	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25267994G>C	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.65C>G	7.37:g.25267994G>C	ENSP00000222674:p.Ser22*						p.S22*	NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN			1	111	-			22					A4D164|Q7LE27|Q96PI9	Nonsense_Mutation	SNP	ENST00000222674.2	37	c.65C>G	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622071	0.87460	.	.	ENSG00000105954	ENST00000222674	.	.	.	5.57	5.57	0.84162	.	0.141093	0.33127	N	0.005249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0032	16.7041	0.85367	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	ENSP00000222674:S22X	S	-	2	0	NPVF	25234519	1.000000	0.71417	0.978000	0.43139	0.620000	0.37586	4.453000	0.60061	2.612000	0.88384	0.650000	0.86243	TCA		0.289	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		6	28	0	0	0	1	0	6	28				
WASH4P	374677	broad.mit.edu	37	16	67035	67035	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:67035A>G	ENST00000326592.9	-	5	1259	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	Z84812.4_ENST00000568710.1_RNA|DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	201					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GGGTCCAGGAAGACATACTTC	0.567																																						ENST00000326592.9																			0											c.(601-603)Ttc>Ctc																																						SO:0001583	missense	374677							g.chr16:67035A>G			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.601T>C	16.37:g.67035A>G	ENSP00000317542:p.Phe201Leu						p.F201L							5	1259	-									Missense_Mutation	SNP	ENST00000326592.9	37	c.601T>C		.	.	.	.	.	.	.	.	.	.	a	1.994	-0.431120	0.04669	.	.	ENSG00000234769	ENST00000326592	.	.	.	0.379	0.379	0.16213	.	0.054222	0.85682	D	0.000000	T	0.33381	0.0861	.	.	.	0.44780	D	0.997782	.	.	.	.	.	.	T	0.03651	-1.1016	6	0.11485	T	0.65	-15.5878	5.0835	0.14668	0.9999:0.0:1.0E-4:0.0	.	.	.	.	L	201	.	ENSP00000317542:F201L	F	-	1	0	WASH4P	7035	0.998000	0.40836	0.774000	0.31636	0.163000	0.22366	1.135000	0.31454	0.369000	0.24510	0.155000	0.16302	TTC		0.567	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		4	28	0	0	0	1	0	4	28				
PCLO	27445	broad.mit.edu	37	7	82544334	82544334	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:82544334G>A	ENST00000333891.9	-	7	13305	c.12968C>T	c.(12967-12969)gCt>gTt	p.A4323V	PCLO_ENST00000437081.1_Missense_Mutation_p.A1043V|PCLO_ENST00000423517.2_Missense_Mutation_p.A4323V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACATCTAGAGCTTCAGCCTC	0.443																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12967-12969)gCt>gTt		piccolo presynaptic cytomatrix protein							68.0	66.0	67.0					7																	82544334		1884	4109	5993	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544334G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12968C>T	7.37:g.82544334G>A	ENSP00000334319:p.Ala4323Val					PCLO_ENST00000333891.8_Missense_Mutation_p.A4323V|PCLO_ENST00000437081.1_Missense_Mutation_p.A1043V	p.A4323V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13305	-			4254						Missense_Mutation	SNP	ENST00000333891.9	37	c.12968C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620627	0.28889	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17054	2.3;2.3	5.79	5.79	0.91817	.	.	.	.	.	T	0.18509	0.0444	L	0.42245	1.32	0.37993	D	0.933969	B;P;P	0.34462	0.013;0.454;0.454	B;B;B	0.27715	0.006;0.082;0.082	T	0.04579	-1.0941	9	0.87932	D	0	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	4254;4323;4323	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	4323;4323;1043	ENSP00000334319:A4323V;ENSP00000388393:A4323V	ENSP00000334319:A4323V	A	-	2	0	PCLO	82382270	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.260000	0.51523	2.753000	0.94483	0.557000	0.71058	GCT		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	30	0	0	0	1	0	8	30				
NEGR1	257194	broad.mit.edu	37	1	72400775	72400775	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:72400775A>C	ENST00000357731.5	-	2	635	c.396T>G	c.(394-396)caT>caG	p.H132Q	NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	132	Ig-like C2-type 1.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCACAGTTAGATGCACCTGCA	0.393																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(394-396)caT>caG		neuronal growth regulator 1							102.0	92.0	96.0					1																	72400775		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400775A>C	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.396T>G	1.37:g.72400775A>C	ENSP00000350364:p.His132Gln					NEGR1_ENST00000306821.3_Missense_Mutation_p.H4Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.H130Q	p.H132Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	2	635	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	132			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.396T>G	CCDS661.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155189	0.38021	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.65549	-0.16;1.61;-0.16	5.71	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104921	0.64402	D	0.000004	T	0.35941	0.0949	L	0.47016	1.485	0.43603	D	0.995962	B;B	0.32302	0.218;0.363	B;B	0.35114	0.14;0.196	T	0.20371	-1.0277	10	0.45353	T	0.12	-11.3048	7.4335	0.27141	0.4921:0.0:0.5079:0.0	.	130;132	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	Q	132;4;130	ENSP00000350364:H132Q;ENSP00000305938:H4Q;ENSP00000413294:H130Q	ENSP00000305938:H4Q	H	-	3	2	NEGR1	72173363	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.309000	0.33539	0.350000	0.24002	0.533000	0.62120	CAT		0.393	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		4	19	0	0	0	1	0	4	19				
FGD4	121512	broad.mit.edu	37	12	32777928	32777928	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr12:32777928G>A	ENST00000427716.2	+	13	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	FGD4_ENST00000525053.1_Missense_Mutation_p.D633N|FGD4_ENST00000546442.1_Missense_Mutation_p.D428N|FGD4_ENST00000266482.3_Missense_Mutation_p.D273N|FGD4_ENST00000534526.2_Missense_Mutation_p.D658N|FGD4_ENST00000531134.1_Missense_Mutation_p.D606N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	521	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAAACCATCGATGCTTTTCA	0.308																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(1561-1563)Gat>Aat		FYVE, RhoGEF and PH domain containing 4							133.0	142.0	139.0					12																	32777928		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32777928G>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1561G>A	12.37:g.32777928G>A	ENSP00000394487:p.Asp521Asn					FGD4_ENST00000546442.1_Missense_Mutation_p.D428N|FGD4_ENST00000534526.2_Missense_Mutation_p.D658N|FGD4_ENST00000531134.1_Missense_Mutation_p.D606N|FGD4_ENST00000525053.1_Missense_Mutation_p.D633N|FGD4_ENST00000266482.3_Missense_Mutation_p.D273N	p.D521N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			13	1985	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		521			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1561G>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310585	0.95629	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.118725	0.37577	N	0.002038	D	0.90417	0.7000	L	0.54323	1.7	0.80722	D	1	B;B;D;D	0.62365	0.41;0.41;0.991;0.985	B;B;P;P	0.54664	0.147;0.147;0.758;0.691	D	0.90117	0.4196	10	0.54805	T	0.06	-18.8068	20.0784	0.97758	0.0:0.0:1.0:0.0	.	633;606;521;273	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	N	658;606;521;273;428;633	ENSP00000449273:D658N;ENSP00000431323:D606N;ENSP00000394487:D521N;ENSP00000266482:D273N;ENSP00000446695:D428N;ENSP00000433666:D633N	ENSP00000266482:D273N	D	+	1	0	FGD4	32669195	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.686000	0.91250	2.736000	0.93811	0.655000	0.94253	GAT		0.308	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		11	89	0	0	0	1	0	11	89				
TKTL1	8277	broad.mit.edu	37	X	153524217	153524217	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:153524217C>T	ENST00000369915.3	+	1	194	c.5C>T	c.(4-6)gCg>gTg	p.A2V	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	2					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACTAATGGCGGATGCTGAG	0.597													C|||	1	0.000264901	0.0	0.0	3775	,	,		11845	0.0		0.0	False		,,,				2504	0.001					ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(4-6)gCg>gTg		transketolase-like 1							78.0	71.0	73.0					X																	153524217		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153524217C>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.5C>T	X.37:g.153524217C>T	ENSP00000358931:p.Ala2Val					TKTL1_ENST00000217905.7_5'UTR	p.A2V	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			1	194	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.5C>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183350	0.38511	.	.	ENSG00000007350	ENST00000369915	T	0.30981	1.51	3.79	2.81	0.32909	.	0.616514	0.12320	N	0.479388	T	0.10337	0.0253	N	0.08118	0	0.09310	N	0.999997	P;P	0.43352	0.804;0.804	B;B	0.20384	0.029;0.029	T	0.08743	-1.0707	10	0.62326	D	0.03	.	5.2282	0.15406	0.2303:0.5481:0.2216:0.0	.	2;2	B7Z7I0;P51854	.;TKTL1_HUMAN	V	2	ENSP00000358931:A2V	ENSP00000358931:A2V	A	+	2	0	TKTL1	153177411	0.613000	0.27009	0.041000	0.18516	0.034000	0.12701	1.111000	0.31159	1.821000	0.53095	0.529000	0.55759	GCG		0.597	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		46	91	0	0	0	1	0	46	91				
SPG11	80208	broad.mit.edu	37	15	44951326	44951326	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:44951326C>T	ENST00000261866.7	-	3	634	c.618G>A	c.(616-618)acG>acA	p.T206T	SPG11_ENST00000427534.2_Silent_p.T206T|SPG11_ENST00000558319.1_Silent_p.T206T|SPG11_ENST00000559193.1_Silent_p.T206T|SPG11_ENST00000535302.2_Silent_p.T206T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	206					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGCAGAGCTGCGTGTCAATAA	0.418																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(616-618)acG>acA		spastic paraplegia 11 (autosomal recessive)							128.0	131.0	130.0					15																	44951326		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44951326C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.618G>A	15.37:g.44951326C>T						SPG11_ENST00000558319.1_Silent_p.T206T|SPG11_ENST00000535302.2_Silent_p.T206T|SPG11_ENST00000427534.2_Silent_p.T206T|SPG11_ENST00000559193.1_Silent_p.T206T	p.T206T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	3	634	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	206					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.618G>A	CCDS10112.1																																																																																				0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			19	98	0	0	0	1	0	19	98				
USH2A	7399	broad.mit.edu	37	1	216371768	216371768	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr1:216371768T>C	ENST00000307340.3	-	18	4356	c.3970A>G	c.(3970-3972)Aca>Gca	p.T1324A	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.T1324A|USH2A_ENST00000366943.2_Missense_Mutation_p.T1324A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1324	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGATGGTTGTCATTGTTTGA	0.443										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3970-3972)Aca>Gca		Usher syndrome 2A (autosomal recessive, mild)							145.0	133.0	137.0					1																	216371768		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371768T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3970A>G	1.37:g.216371768T>C	ENSP00000305941:p.Thr1324Ala	HNSCC(13;0.011)				RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.T1324A|USH2A_ENST00000366942.3_Missense_Mutation_p.T1324A	p.T1324A			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4356	-			1324			Fibronectin type-III 3.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3970A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	5.343	0.248541	0.10130	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.54866	0.55;0.55;0.55	5.47	0.661	0.17874	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.297980	0.23587	N	0.046586	T	0.33933	0.0880	N	0.25426	0.745	0.09310	N	1	B;B	0.21452	0.056;0.005	B;B	0.19946	0.027;0.016	T	0.17198	-1.0377	10	0.25106	T	0.35	.	9.0716	0.36495	0.0:0.2797:0.0:0.7203	.	1324;1324	O75445-2;O75445	.;USH2A_HUMAN	A	1324	ENSP00000305941:T1324A;ENSP00000355910:T1324A;ENSP00000355909:T1324A	ENSP00000305941:T1324A	T	-	1	0	USH2A	214438391	0.072000	0.21174	0.000000	0.03702	0.240000	0.25518	0.492000	0.22435	0.076000	0.16826	-0.266000	0.10368	ACA		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	70	0	0	0	1	0	9	70				
OR4N5	390437	broad.mit.edu	37	14	20612782	20612782	+	Silent	SNP	T	T	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr14:20612782T>A	ENST00000333629.1	+	1	888	c.888T>A	c.(886-888)gcT>gcA	p.A296A	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AGGTGAAAGCTTCCATGAGGA	0.393																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(886-888)gcT>gcA		olfactory receptor, family 4, subfamily N, member 5							76.0	76.0	76.0					14																	20612782		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612782T>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.888T>A	14.37:g.20612782T>A							p.A296A	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	888	+	all_cancers(95;0.00108)		296					Q6IF11	Silent	SNP	ENST00000333629.1	37	c.888T>A	CCDS32031.1																																																																																				0.393	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			8	86	0	0	0	1	0	8	86				
BIRC6	57448	broad.mit.edu	37	2	32640716	32640716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr2:32640716C>A	ENST00000421745.2	+	10	2491	c.2357C>A	c.(2356-2358)tCa>tAa	p.S786*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	786					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.S786*(1)|p.S758*(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGCTGGAATCAAATCTTGCT	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			2	Substitution - Nonsense(2)	p.S786*(1)|p.S758*(1)	kidney(2)	NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(2356-2358)tCa>tAa		baculoviral IAP repeat containing 6							67.0	71.0	70.0					2																	32640716		2203	4300	6503	SO:0001587	stop_gained	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640716C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2357C>A	2.37:g.32640716C>A	ENSP00000393596:p.Ser786*						p.S786*	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			10	2491	+	Acute lymphoblastic leukemia(172;0.155)		786					Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	c.2357C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	39	7.697085	0.98438	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.76	5.76	0.90799	.	0.190297	0.37348	N	0.002140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	.	.	.	X	786	.	ENSP00000393596:S786X	S	+	2	0	BIRC6	32494220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.931000	0.56529	2.726000	0.93360	0.655000	0.94253	TCA		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		12	54	1	0	1.5842e-08	1	1.68663e-08	12	54				
SLITRK5	26050	broad.mit.edu	37	13	88327663	88327663	+	Missense_Mutation	SNP	C	C	A	rs141503904		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr13:88327663C>A	ENST00000325089.6	+	2	239	c.20C>A	c.(19-21)cCa>cAa	p.P7Q	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	7					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCTGCCCCCCAGTAACTTTG	0.438																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(19-21)cCa>cAa		SLIT and NTRK-like family, member 5							86.0	81.0	83.0					13																	88327663		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327663C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.20C>A	13.37:g.88327663C>A	ENSP00000366283:p.Pro7Gln					SLITRK5_ENST00000400028.3_Intron	p.P7Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	239	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		7					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.20C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	9.282	1.048320	0.19827	.	.	ENSG00000165300	ENST00000325089	T	0.57107	0.42	5.82	4.98	0.66077	.	0.522305	0.17920	N	0.157531	T	0.31451	0.0797	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09530	-1.0670	9	.	.	.	0.0444	12.6973	0.57012	0.0:0.9203:0.0:0.0797	.	7	O94991	SLIK5_HUMAN	Q	7	ENSP00000366283:P7Q	.	P	+	2	0	SLITRK5	87125664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.351000	0.59398	1.468000	0.48064	0.561000	0.74099	CCA		0.438	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			10	84	1	0	1.58986e-06	1	1.68539e-06	10	84				
DAPK2	23604	broad.mit.edu	37	15	64231510	64231510	+	Silent	SNP	C	C	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:64231510C>T	ENST00000457488.1	-	5	534	c.504G>A	c.(502-504)aaG>aaA	p.K168K	DAPK2_ENST00000558069.1_Silent_p.K168K|DAPK2_ENST00000261891.3_Silent_p.K168K|DAPK2_ENST00000558482.1_5'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGTCAATCAGCTTGATGTGTG	0.358																																						ENST00000261891.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11						c.(502-504)aaG>aaA		death-associated protein kinase 2							96.0	90.0	92.0					15																	64231510		2203	4300	6503	SO:0001819	synonymous_variant	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64231510C>T	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.504G>A	15.37:g.64231510C>T						DAPK2_ENST00000457488.1_Silent_p.K168K|DAPK2_ENST00000558069.1_Silent_p.K168K|DAPK2_ENST00000558482.1_5'UTR	p.K168K			Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	4	509	-			168			Protein kinase.		E9JGM7|O75892|Q24JS1	Silent	SNP	ENST00000457488.1	37	c.504G>A	CCDS10188.1																																																																																				0.358	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		12	45	0	0	0	1	0	12	45				
SAMD9	54809	broad.mit.edu	37	7	92731813	92731813	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:92731813C>G	ENST00000379958.2	-	3	3867	c.3598G>C	c.(3598-3600)Gag>Cag	p.E1200Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1200						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTTCTATCTCTCCTTGATAA	0.338																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3598-3600)Gag>Cag		sterile alpha motif domain containing 9							151.0	149.0	150.0					7																	92731813		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92731813C>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3598G>C	7.37:g.92731813C>G	ENSP00000369292:p.Glu1200Gln						p.E1200Q	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3867	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1200					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.3598G>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879004	0.51801	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.26518	1.73;2.56	4.54	4.54	0.55810	.	0.351154	0.23173	N	0.051109	T	0.22589	0.0545	L	0.45137	1.4	0.30672	N	0.753234	P	0.47841	0.901	B	0.40565	0.333	T	0.18366	-1.0339	10	0.52906	T	0.07	-7.8509	11.9473	0.52936	0.0:0.8241:0.1759:0.0	.	1200	Q5K651	SAMD9_HUMAN	Q	1200	ENSP00000369292:E1200Q;ENSP00000414529:E1200Q	ENSP00000369292:E1200Q	E	-	1	0	SAMD9	92569749	0.986000	0.35501	0.999000	0.59377	0.762000	0.43233	2.807000	0.47955	2.349000	0.79799	0.511000	0.50034	GAG		0.338	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		23	94	0	0	0	1	0	23	94				
PARP14	54625	broad.mit.edu	37	3	122422803	122422816	+	Frame_Shift_Del	DEL	ATGGTAGCACATCT	ATGGTAGCACATCT	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:122422803_122422816delATGGTAGCACATCT	ENST00000474629.2	+	7	3562_3575	c.3296_3309delATGGTAGCACATCT	c.(3295-3309)aatggtagcacatctfs	p.NGSTS1099fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1099	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAGTGGAGAAATGGTAGCACATCTTCACTCAAGG	0.5																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3295-3309)afs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122422803_122422816delATGGTAGCACATCT	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3296_3309delATGGTAGCACATCT	3.37:g.122422803_122422816delATGGTAGCACATCT	ENSP00000418194:p.Asn1099fs						p.NGSTS1099fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	3562_3575	+			1099			Macro 2.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Del	DEL	ENST00000474629.2	37	c.3296_3309delATGGTAGCACATCT	CCDS46894.1																																																																																				0.500	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		15	121						15	121	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952146	178952147	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr3:178952146_178952147insA	ENST00000263967.3	+	21	3358_3359	c.3201_3202insA	c.(3202-3204)aacfs	p.N1068fs	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1068	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGCATGCATTGAACTGAAAAGA	0.396		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3199-3204)ttactgfs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001589	frameshift_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952146_178952147insA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3203dupA	3.37:g.178952148_178952148dupA	ENSP00000263967:p.Asn1068fs	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L1068fs	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3358_3359	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1068			PI3K/PI4K.		Q14CW1|Q99762	Frame_Shift_Ins	INS	ENST00000263967.3	37	c.3201_3202insA	CCDS43171.1																																																																																				0.396	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	55						26	55	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140730249	140730250	+	Frame_Shift_Ins	INS	-	-	GTCAG			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr5:140730249_140730250insGTCAG	ENST00000523390.1	+	1	422_423	c.422_423insGTCAG	c.(421-426)gagtcafs	p.-142fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTTGTGAGTCAGCCTTAC	0.406																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(421-423)gtcfs																																						SO:0001589	frameshift_variant	56104							g.chr5:140730249_140730250insGTCAG	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.423_427dupGTCAG	5.37:g.140730250_140730254dupGTCAG	ENSP00000429273:p.Ser142fs					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V141fs	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	422_423	+								Q3SY75|Q9Y5C8	Frame_Shift_Ins	INS	ENST00000523390.1	37	c.422_423insGTCAG	CCDS54923.1																																																																																				0.406	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		8	140						8	140	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		11	55						11	55	---	---	---	---
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542																																						ENST00000437494.1																			0																																																			0							g.chr7:75804673delA																													7.37:g.75804673delA														0	57	+									RNA	DEL	ENST00000437494.1	37																																																																																						0.542	AC005077.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344669.1			2	4						2	4	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993251	144993262	+	In_Frame_Del	DEL	GGCTGCCGCCGC	GGCTGCCGCCGC	-	rs372840016		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr8:144993251_144993262delGGCTGCCGCCGC	ENST00000322810.4	-	32	11307_11318	c.11138_11149delGCGGCGGCAGCC	c.(11137-11151)ggcggcggcagccac>gac	p.3713_3717GGGSH>D	PLEC_ENST00000527096.1_In_Frame_Del_p.3599_3603GGGSH>D|PLEC_ENST00000345136.3_In_Frame_Del_p.3576_3580GGGSH>D|PLEC_ENST00000357649.2_In_Frame_Del_p.3580_3584GGGSH>D|PLEC_ENST00000354589.3_In_Frame_Del_p.3576_3580GGGSH>D|PLEC_ENST00000354958.2_In_Frame_Del_p.3554_3558GGGSH>D|PLEC_ENST00000436759.2_In_Frame_Del_p.3603_3607GGGSH>D|PLEC_ENST00000356346.3_In_Frame_Del_p.3562_3566GGGSH>D|PLEC_ENST00000398774.2_In_Frame_Del_p.3544_3548GGGSH>D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3713	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.G3715G(1)|p.G3605G(1)|p.G3578G(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCCGCCGTGGCTGCCGCCGCCGGGAATGTC	0.642																																						ENST00000322810.4																			3	Substitution - coding silent(3)	p.G3715G(1)|p.G3605G(1)|p.G3578G(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11137-11151)gac>g		plectin																																				SO:0001651	inframe_deletion	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993251_144993262delGGCTGCCGCCGC	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11138_11149delGCGGCGGCAGCC	8.37:g.144993251_144993262delGGCTGCCGCCGC	ENSP00000323856:p.Gly3713_His3717delinsAsp					PLEC_ENST00000357649.2_In_Frame_Del_p.GGGSH3580del|PLEC_ENST00000345136.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000354589.3_In_Frame_Del_p.GGGSH3576del|PLEC_ENST00000527096.1_In_Frame_Del_p.GGGSH3599del|PLEC_ENST00000354958.2_In_Frame_Del_p.GGGSH3554del|PLEC_ENST00000398774.2_In_Frame_Del_p.GGGSH3544del|PLEC_ENST00000436759.2_In_Frame_Del_p.GGGSH3603del|PLEC_ENST00000356346.3_In_Frame_Del_p.GGGSH3562del	p.GGGSH3713del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11307_11318	-			3713			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	In_Frame_Del	DEL	ENST00000322810.4	37	c.11138_11149delGCGGCGGCAGCC	CCDS43772.1																																																																																				0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		30	225						30	225	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	93						7	93	---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61658681	61658681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:61658681delC	ENST00000278829.2	-	1	325	c.173delG	c.(172-174)ggcfs	p.G58fs	FADS3_ENST00000529525.1_5'UTR|FADS3_ENST00000525588.1_Frame_Shift_Del_p.G58fs|FADS3_ENST00000540820.1_Frame_Shift_Del_p.G58fs|FADS3_ENST00000527697.1_Intron	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	58	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGCGGCTGCCCCCTGGGTG	0.706																																						ENST00000540820.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(172-174)gcfs		fatty acid desaturase 3							6.0	8.0	7.0					11																	61658681		2069	4062	6131	SO:0001589	frameshift_variant	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61658681delC		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.173delG	11.37:g.61658681delC	ENSP00000278829:p.Gly58fs					FADS3_ENST00000525588.1_Frame_Shift_Del_p.G58fs|FADS3_ENST00000527697.1_Intron|FADS3_ENST00000278829.2_Frame_Shift_Del_p.G58fs|FADS3_ENST00000529525.1_5'UTR	p.G58fs			Q9Y5Q0	FADS3_HUMAN			1	245	-			58			Cytochrome b5 heme-binding.		O60426	Frame_Shift_Del	DEL	ENST00000278829.2	37	c.173delG	CCDS8013.1																																																																																				0.706	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			2	4						2	4	---	---	---	---
TTC9C	283237	broad.mit.edu	37	11	62496334	62496350	+	Frame_Shift_Del	DEL	TGCAGGAGGCTCAGCTG	TGCAGGAGGCTCAGCTG	-	rs567431790		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr11:62496334_62496350delTGCAGGAGGCTCAGCTG	ENST00000316461.4	+	1	324_340	c.14_30delTGCAGGAGGCTCAGCTG	c.(13-30)ctgcaggaggctcagctgfs	p.LQEAQL5fs	TTC9C_ENST00000532583.1_Frame_Shift_Del_p.LQEAQL5fs|HNRNPUL2-BSCL2_ENST00000403734.2_5'Flank|TTC9C_ENST00000513247.2_Frame_Shift_Del_p.LQEAQL138fs|HNRNPUL2_ENST00000301785.5_5'Flank	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	5										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GAGAAGCGTCTGCAGGAGGCTCAGCTGTACAAGGAGG	0.562																																						ENST00000513247.2																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						c.(412-429)cfs		tetratricopeptide repeat domain 9C																																				SO:0001589	frameshift_variant	283237						binding	g.chr11:62496334_62496350delTGCAGGAGGCTCAGCTG	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.14_30delTGCAGGAGGCTCAGCTG	11.37:g.62496334_62496350delTGCAGGAGGCTCAGCTG	ENSP00000325266:p.Leu5fs					TTC9C_ENST00000532583.1_Frame_Shift_Del_p.LQEAQL5fs|TTC9C_ENST00000316461.4_Frame_Shift_Del_p.LQEAQL5fs	p.LQEAQL138fs			Q8N5M4	TTC9C_HUMAN			2	665_681	+			5					Q8WYY7	Frame_Shift_Del	DEL	ENST00000316461.4	37	c.413_429delTGCAGGAGGCTCAGCTG	CCDS8033.1																																																																																				0.562	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		9	70						9	70	---	---	---	---
LOC101929457	101929457	broad.mit.edu	37	15	77820915	77820915	+	lincRNA	DEL	G	G	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:77820915delG	ENST00000561283.2	+	0	806																											GTGGCCTGGTGGGTGGCCCCA	0.582																																						ENST00000561283.2																			0																																																			101929457							g.chr15:77820915delG																													15.37:g.77820915delG														0	806	+									RNA	DEL	ENST00000561283.2	37																																																																																						0.582	RP11-307C19.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000419437.2			2	4						2	4	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	3						4	3	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TT	rs139112308		TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr16:32077916_32077917insTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077917_32077918dupTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			2	4						2	4	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11502116	11502117	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:11502116_11502117insT	ENST00000262442.4	+	1	369_370	c.301_302insT	c.(301-303)cttfs	p.L101fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.L101fs|DNAH9_ENST00000579828.1_Frame_Shift_Ins_p.L101fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	101	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTAAGGCGCTTTTTTTCCTT	0.743																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(301-303)tttfs		dynein, axonemal, heavy chain 9																																				SO:0001589	frameshift_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11502116_11502117insT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.308dupT	17.37:g.11502123_11502123dupT	ENSP00000262442:p.Leu101fs					DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.F101fs|DNAH9_ENST00000579828.1_Frame_Shift_Ins_p.F101fs	p.F101fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	1	369_370	+		Breast(5;0.0122)|all_epithelial(5;0.131)	101			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	ENST00000262442.4	37	c.301_302insT	CCDS11160.1																																																																																				0.743	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		2	4						2	4	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62969193	62969193	+	RNA	DEL	A	A	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr17:62969193delA	ENST00000430983.1	-	0	1290					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		GATATGAATTAAAAAAAAATG	0.328																																						ENST00000430983.1																			0																																																			201283							g.chr17:62969193delA	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969193delA								NR_026903.1						0	1290	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.328	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		2	4						2	4	---	---	---	---
ZNF17	7565	broad.mit.edu	37	19	57932040	57932043	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chr19:57932040_57932043delTTCT	ENST00000601808.1	+	3	1393_1396	c.1180_1183delTTCT	c.(1180-1185)ttctttfs	p.FF394fs	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Frame_Shift_Del_p.FF396fs	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	394				F -> S (in Ref. 1; BAG54604). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATGTGGGAAATTCTTTAGATACCG	0.402																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1186-1191)ttfs		zinc finger protein 17																																				SO:0001589	frameshift_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932040_57932043delTTCT	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1180_1183delTTCT	19.37:g.57932040_57932043delTTCT	ENSP00000471905:p.Phe394fs					AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Frame_Shift_Del_p.FF394fs	p.FF396fs			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1449_1452	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	394					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Frame_Shift_Del	DEL	ENST00000601808.1	37	c.1186_1189delTTCT	CCDS42636.1																																																																																				0.402	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		11	86						11	86	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-F7-A50J-01A-21D-A28R-08	TCGA-F7-A50J-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77490fcd-b6c5-4542-b0c4-7fe1c73a0e94	e7eccbde-9533-47b0-b735-b0f7a3fdf2b6	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	270						7	270	---	---	---	---
