#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
HMGCS2	3158	broad.mit.edu	37	1	120302609	120302609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:120302609C>T	ENST00000369406.3	-	3	612	c.563G>A	c.(562-564)cGt>cAt	p.R188H	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	188					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R188H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CATGGCATAACGACCTGTAAA	0.488																																						ENST00000369406.3																			1	Substitution - Missense(1)	p.R188H(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(562-564)cGt>cAt		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							46.0	45.0	45.0					1																	120302609		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302609C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.563G>A	1.37:g.120302609C>T	ENSP00000358414:p.Arg188His					HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	p.R188H	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	612	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	188					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.563G>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129819	0.77549	.	.	ENSG00000134240	ENST00000369406	D	0.92099	-2.97	5.25	3.36	0.38483	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.96571	0.8881	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.96428	0.9317	10	0.87932	D	0	-7.8982	10.8374	0.46696	0.0:0.8422:0.0:0.1578	.	188	P54868	HMCS2_HUMAN	H	188	ENSP00000358414:R188H	ENSP00000358414:R188H	R	-	2	0	HMGCS2	120104132	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	5.733000	0.68571	0.593000	0.29745	0.400000	0.26472	CGT		0.488	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		26	72	0	0	0	1	0	26	72				
MUC16	94025	broad.mit.edu	37	19	9056757	9056757	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:9056757G>T	ENST00000397910.4	-	3	30892	c.30689C>A	c.(30688-30690)cCc>cAc	p.P10230H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10232	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5863H(1)|p.P10230H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATTAAAGGGGGTGATTAT	0.448																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.P5863H(1)|p.P10230H(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30688-30690)cCc>cAc		mucin 16, cell surface associated							90.0	89.0	90.0					19																	9056757		1908	4136	6044	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056757G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30689C>A	19.37:g.9056757G>T	ENSP00000381008:p.Pro10230His						p.P10230H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30892	-			10232			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30689C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.784	0.710095	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	3.24	-2.13	0.07144	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	.	.	.	B	0.14438	0.01	B	0.10450	0.005	T	0.46884	-0.9159	8	0.87932	D	0	.	0.2379	0.00188	0.3589:0.1401:0.2138:0.2872	.	10230	B5ME49	.	H	10230	ENSP00000381008:P10230H	ENSP00000381008:P10230H	P	-	2	0	MUC16	8917757	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	-3.014000	0.00646	-0.492000	0.06687	0.467000	0.42956	CCC		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	94	1	0	7.48243e-07	1	7.74044e-07	10	94				
COL21A1	81578	broad.mit.edu	37	6	56035897	56035897	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:56035897C>A	ENST00000244728.5	-	4	1067	c.670G>T	c.(670-672)Gca>Tca	p.A224S	COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	224					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A224S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACGAGCTGCCACTGGAATT	0.318																																						ENST00000244728.5																			2	Substitution - Missense(2)	p.A224S(2)	prostate(2)	breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(670-672)Gca>Tca		collagen, type XXI, alpha 1							85.0	79.0	80.0					6																	56035897		1833	4080	5913	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035897C>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.670G>T	6.37:g.56035897C>A	ENSP00000244728:p.Ala224Ser					COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	p.A224S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1067	-	Lung NSC(77;0.0483)		224					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.670G>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604364	0.46423	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.88975	-2.45;-2.4;-2.45	4.17	4.17	0.49024	.	0.000000	0.50627	U	0.000105	D	0.90741	0.7094	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.75020	0.775;0.985	D	0.89374	0.3677	10	0.32370	T	0.25	.	16.8146	0.85730	0.0:1.0:0.0:0.0	.	224;224	Q96P44-3;Q96P44	.;COLA1_HUMAN	S	224	ENSP00000244728:A224S;ENSP00000359855:A224S;ENSP00000444384:A224S	ENSP00000244728:A224S	A	-	1	0	COL21A1	56143856	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.631000	0.46502	2.024000	0.59613	0.585000	0.79938	GCA		0.318	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			36	92	1	0	7.53189e-24	1	8.86105e-24	36	92				
TTYH3	80727	broad.mit.edu	37	7	2698620	2698620	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:2698620C>G	ENST00000258796.7	+	13	1676	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V|TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	491					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.L491V(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAACACCCCACTCATTGGGCG	0.647																																						ENST00000258796.7																			1	Substitution - Missense(1)	p.L491V(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1471-1473)Ctc>Gtc		tweety family member 3							124.0	121.0	122.0					7																	2698620		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2698620C>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1471C>G	7.37:g.2698620C>G	ENSP00000258796:p.Leu491Val					TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V	p.L491V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	13	1676	+		Ovarian(82;0.0112)	491					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.1471C>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170929	0.78452	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167;ENST00000429448	T;T;T;T	0.58940	0.3;0.3;0.3;1.12	4.11	4.11	0.48088	.	0.000000	0.64402	U	0.000001	T	0.71634	0.3363	M	0.68317	2.08	0.51767	D	0.999938	D;D	0.89917	0.998;1.0	D;D	0.83275	0.996;0.994	T	0.74393	-0.3680	10	0.66056	D	0.02	.	11.3844	0.49776	0.0:0.9104:0.0:0.0896	.	320;491	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	V	491;459;320;151	ENSP00000258796:L491V;ENSP00000385316:L459V;ENSP00000385015:L320V;ENSP00000413757:L151V	ENSP00000258796:L491V	L	+	1	0	TTYH3	2665146	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.561000	0.67339	2.004000	0.58718	0.462000	0.41574	CTC		0.647	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		16	175	0	0	0	1	0	16	175				
FPR1	2357	broad.mit.edu	37	19	52249334	52249334	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:52249334C>A	ENST00000595042.1	-	3	1055	c.914G>T	c.(913-915)gGc>gTc	p.G305V	FPR1_ENST00000304748.4_Missense_Mutation_p.G305V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	305					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.G305V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GAAGTCCTGGCCCATGAAGAC	0.547																																						ENST00000595042.1																			1	Substitution - Missense(1)	p.G305V(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(913-915)gGc>gTc		formyl peptide receptor 1	Nedocromil(DB00716)						121.0	105.0	110.0					19																	52249334		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249334C>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.914G>T	19.37:g.52249334C>A	ENSP00000471493:p.Gly305Val					FPR1_ENST00000304748.4_Missense_Mutation_p.G305V	p.G305V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	1055	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	305					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.914G>T	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050256	0.75846	.	.	ENSG00000171051	ENST00000304748	T	0.27890	1.64	3.55	3.55	0.40652	.	0.000000	0.64402	D	0.000003	T	0.59797	0.2220	M	0.90309	3.105	0.80722	D	1	D	0.59357	0.985	D	0.66847	0.947	T	0.70396	-0.4883	10	0.87932	D	0	.	13.4069	0.60919	0.0:1.0:0.0:0.0	.	305	P21462	FPR1_HUMAN	V	305	ENSP00000302707:G305V	ENSP00000302707:G305V	G	-	2	0	FPR1	56941146	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	5.408000	0.66368	1.907000	0.55213	0.650000	0.86243	GGC		0.547	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		26	86	1	0	7.92952e-12	1	8.81058e-12	26	86				
GPR112	139378	broad.mit.edu	37	X	135431329	135431329	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chrX:135431329C>A	ENST00000394143.1	+	6	5755	c.5464C>A	c.(5464-5466)Cca>Aca	p.P1822T	GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1822					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)	p.P1822T(1)		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)					TTCATACCCTCCATGGACCCC	0.408																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.P1822T(1)	prostate(1)	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.(5464-5466)Cca>Aca		G protein-coupled receptor 112							139.0	127.0	131.0					X																	135431329		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431329C>A	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.5464C>A	X.37:g.135431329C>A	ENSP00000377699:p.Pro1822Thr					GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T	p.P1822T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5755	+	Acute lymphoblastic leukemia(192;0.000127)		1822					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5464C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	2.137	-0.397754	0.04899	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27104	1.72;1.72;1.69;1.83;1.69	3.71	-2.15	0.07102	.	.	.	.	.	T	0.12475	0.0303	N	0.24115	0.695	0.09310	N	1	B;B;B	0.25312	0.123;0.103;0.063	B;B;B	0.25140	0.042;0.058;0.026	T	0.32824	-0.9892	9	0.23302	T	0.38	.	2.6312	0.04945	0.3648:0.2418:0.0:0.3934	.	1759;1617;1822	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1822;1822;1617;1759;1617	ENSP00000377699:P1822T;ENSP00000359686:P1822T;ENSP00000416526:P1617T;ENSP00000287534:P1759T;ENSP00000377697:P1617T	ENSP00000287534:P1759T	P	+	1	0	GPR112	135258995	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.287000	0.02785	-0.215000	0.10063	-0.369000	0.07265	CCA		0.408	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			15	143	1	0	2.32078e-09	1	2.44293e-09	15	143				
SMAD3	4088	broad.mit.edu	37	15	67477178	67477178	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:67477178G>T	ENST00000327367.4	+	7	1295	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	329	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A329S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGGCACCCGGCCACCGTCTG	0.597																																						ENST00000327367.4																			1	Substitution - Missense(1)	p.A329S(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(985-987)Gcc>Tcc		SMAD family member 3							86.0	76.0	79.0					15																	67477178		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67477178G>T	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.985G>T	15.37:g.67477178G>T	ENSP00000332973:p.Ala329Ser					SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S	p.A329S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	7	1295	+			329			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.985G>T	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259644	0.95368	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.19	5.19	0.71726	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97040	0.9033	L	0.33792	1.035	0.80722	D	1	P;D	0.61080	0.903;0.989	P;D	0.67103	0.88;0.949	D	0.96378	0.9279	10	0.29301	T	0.29	.	18.7296	0.91730	0.0:0.0:1.0:0.0	.	285;329	B7Z4Z5;P84022	.;SMAD3_HUMAN	S	329;329;224;285;134	ENSP00000332973:A329S;ENSP00000437757:A224S;ENSP00000401133:A285S;ENSP00000445348:A134S	ENSP00000332973:A329S	A	+	1	0	SMAD3	65264232	1.000000	0.71417	0.958000	0.39756	0.995000	0.86356	9.633000	0.98432	2.412000	0.81896	0.650000	0.86243	GCC		0.597	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		7	36	1	0	5.18039e-06	1	5.26819e-06	7	36				
CHD2	1106	broad.mit.edu	37	15	93524064	93524064	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:93524064G>C	ENST00000394196.4	+	23	3964	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	966	Glu-rich.				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)	p.E966Q(2)		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)			TTTTAATAAAGAAGAGCTGAC	0.368																																						ENST00000394196.4																			2	Substitution - Missense(2)	p.E966Q(2)	prostate(2)	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.(2896-2898)Gaa>Caa		chromodomain helicase DNA binding protein 2							43.0	47.0	46.0					15																	93524064		2192	4295	6487	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93524064G>C	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.2896G>C	15.37:g.93524064G>C	ENSP00000377747:p.Glu966Gln					CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	p.E966Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		23	3964	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		966			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2896G>C	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913709	0.92178	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.77489	-1.1;-1.1	5.38	5.38	0.77491	.	0.000000	0.35067	U	0.003462	T	0.76456	0.3990	L	0.46567	1.45	0.80722	D	1	B;B	0.32338	0.109;0.365	B;B	0.36186	0.013;0.219	T	0.76277	-0.3018	10	0.54805	T	0.06	-27.9263	19.137	0.93431	0.0:0.0:1.0:0.0	.	966;966	O14647;O14647-2	CHD2_HUMAN;.	Q	966	ENSP00000377747:E966Q;ENSP00000451366:E966Q	ENSP00000377747:E966Q	E	+	1	0	CHD2	91325068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.532000	0.85374	0.561000	0.74099	GAA		0.368	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		12	105	0	0	0	1	0	12	105				
CLCA2	9635	broad.mit.edu	37	1	86916415	86916415	+	Splice_Site	SNP	C	C	T	rs140158852		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:86916415C>T	ENST00000370565.4	+	12	2316	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	718					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.N718N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACACAGCAAACGGTAAGAACC	0.448																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	ENST00000370565.4																			1	Substitution - coding silent(1)	p.N718N(1)	prostate(1)	NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.e12+1		chloride channel accessory 2		C		0,4406		0,0,2203	140.0	125.0	130.0		2154	-10.7	0.0	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	CLCA2	NM_006536.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		718/944	86916415	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86916415C>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2155+1C>T	1.37:g.86916415C>T						CLCA2_ENST00000498802.1_3'UTR	p.N718_splice	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	12	2316	+		Lung NSC(277;0.238)	718					A8K2T3|Q9Y6N2	Splice_Site	SNP	ENST00000370565.4	37	c.2155_splice	CCDS708.1																																																																																				0.448	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	Silent	31	203	0	0	0	1	0	31	203				
C12orf77	196415	broad.mit.edu	37	12	25148935	25148935	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:25148935C>T	ENST00000549828.1	-	3	417	c.213G>A	c.(211-213)acG>acA	p.T71T	C12orf77_ENST00000549262.1_Silent_p.T16T|C12orf77_ENST00000434912.3_Silent_p.T16T	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	71								p.T71T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGTCCAGCGTCTGCACGT	0.478																																						ENST00000549828.1																			2	Substitution - coding silent(2)	p.T71T(2)	large_intestine(1)|prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(211-213)acG>acA		chromosome 12 open reading frame 77							87.0	89.0	89.0					12																	25148935		1964	4159	6123	SO:0001819	synonymous_variant	196415							g.chr12:25148935C>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.213G>A	12.37:g.25148935C>T						C12orf77_ENST00000434912.3_Silent_p.T16T|C12orf77_ENST00000549262.1_Silent_p.T16T	p.T71T	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN			3	417	-			71						Silent	SNP	ENST00000549828.1	37	c.213G>A	CCDS44846.1																																																																																				0.478	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		29	55	0	0	0	1	0	29	55				
TTLL11	158135	broad.mit.edu	37	9	124752018	124752018	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:124752018C>A	ENST00000373776.3	-	4	1182	c.995G>T	c.(994-996)tGg>tTg	p.W332L	TTLL11_ENST00000321582.5_Missense_Mutation_p.W332L|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	332	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.W332L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGTGGGCTTCCAGGAGGGGTC	0.512																																						ENST00000321582.5																			1	Substitution - Missense(1)	p.W332L(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						c.(994-996)tGg>tTg		tubulin tyrosine ligase-like family, member 11							108.0	118.0	114.0					9																	124752018		2199	4298	6497	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124752018C>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.995G>T	9.37:g.124752018C>A	ENSP00000362881:p.Trp332Leu					TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L	p.W332L	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN			4	1182	-			332			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.995G>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264390	0.39995	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.06068	3.49;3.35	4.89	4.89	0.63831	.	0.232836	0.23237	U	0.050391	T	0.05547	0.0146	N	0.17800	0.525	0.48696	D	0.999691	B;B	0.17852	0.014;0.024	B;B	0.24155	0.014;0.051	T	0.37126	-0.9719	10	0.10377	T	0.69	.	17.1382	0.86745	0.0:1.0:0.0:0.0	.	332;332	F8W6M1;Q8NHH1	.;TTL11_HUMAN	L	332	ENSP00000321346:W332L;ENSP00000362881:W332L	ENSP00000321346:W332L	W	-	2	0	TTLL11	123791839	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.748000	0.55142	2.283000	0.76528	0.549000	0.68633	TGG		0.512	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		66	240	1	0	4.60868e-44	1	5.53042e-44	66	240				
DNAH10	196385	broad.mit.edu	37	12	124395093	124395093	+	Silent	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:124395093G>A	ENST00000409039.3	+	58	9679	c.9654G>A	c.(9652-9654)aaG>aaA	p.K3218K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3218	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)	p.K1810K(1)|p.K3218K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCTTGAAGACTCTTAATA	0.388																																						ENST00000409039.3																			2	Substitution - coding silent(2)	p.K1810K(1)|p.K3218K(1)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9652-9654)aaG>aaA		dynein, axonemal, heavy chain 10							117.0	119.0	118.0					12																	124395093		1880	4110	5990	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124395093G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9654G>A	12.37:g.124395093G>A							p.K3218K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	58	9679	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3218			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.9654G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	0.657	-0.807122	0.02819	.	.	ENSG00000197653	ENST00000540041	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.74696	0.3750	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73861	-0.3849	4	.	.	.	.	18.7279	0.91722	0.0:0.0:1.0:0.0	.	.	.	.	K	146	.	.	R	+	2	0	DNAH10	122961046	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	4.521000	0.60532	2.420000	0.82092	0.655000	0.94253	AGA		0.388	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			12	219	0	0	0	1	0	12	219				
SLC8A3	6547	broad.mit.edu	37	14	70634187	70634187	+	Missense_Mutation	SNP	C	C	T	rs541631348	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:70634187C>T	ENST00000381269.2	-	2	1706	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	SLC8A3_ENST00000356921.2_Missense_Mutation_p.R318Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R318Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R318Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	318					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.R318Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGAGAATCCGGATCATCTC	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		20747	0.0		0.0	False		,,,				2504	0.002					ENST00000381269.2																			1	Substitution - Missense(1)	p.R318Q(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(952-954)cGg>cAg		solute carrier family 8 (sodium/calcium exchanger), member 3							91.0	92.0	92.0					14																	70634187		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634187C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.953G>A	14.37:g.70634187C>T	ENSP00000370669:p.Arg318Gln					SLC8A3_ENST00000356921.2_Missense_Mutation_p.R318Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R318Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R318Q	p.R318Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1706	-			318					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.953G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	6.969	0.548712	0.13312	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.36340	1.35;1.26;1.4;1.34;1.4	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.21508	0.67	0.58432	D	0.999998	P;P;P;P	0.45715	0.865;0.788;0.669;0.791	B;B;B;B	0.40636	0.335;0.18;0.18;0.18	T	0.01956	-1.1240	10	0.31617	T	0.26	.	14.3831	0.66923	0.0:0.9297:0.0:0.0703	.	318;318;318;318	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	318	ENSP00000349392:R318Q;ENSP00000370669:R318Q;ENSP00000350560:R318Q;ENSP00000436688:R318Q;ENSP00000433531:R318Q	ENSP00000349392:R318Q	R	-	2	0	SLC8A3	69703940	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	4.973000	0.63763	2.753000	0.94483	0.655000	0.94253	CGG		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			6	170	0	0	0	1	0	6	170				
ASPG	374569	broad.mit.edu	37	14	104552115	104552115	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:104552115G>A	ENST00000551177.1	+	1	100	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ASPG_ENST00000455920.2_Missense_Mutation_p.R3H|ASPG_ENST00000546892.2_Missense_Mutation_p.R3H	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	3					asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.R3H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGGCGCGCGCGGTGGGG	0.761																																						ENST00000551177.1																			1	Substitution - Missense(1)	p.R3H(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(7-9)cGc>cAc		asparaginase homolog (S. cerevisiae)							9.0	10.0	10.0					14																	104552115		1663	3722	5385	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104552115G>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.8G>A	14.37:g.104552115G>A	ENSP00000450040:p.Arg3His					ASPG_ENST00000546892.2_Missense_Mutation_p.R3H|ASPG_ENST00000455920.2_Missense_Mutation_p.R3H	p.R3H	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			1	100	+			3					B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.8G>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740241	0.49045	.	.	ENSG00000166183	ENST00000551177;ENST00000546892;ENST00000455920	T;T;T	0.37915	1.17;1.56;1.17	3.67	1.67	0.24075	.	.	.	.	.	T	0.35068	0.0919	N	0.14661	0.345	0.25553	N	0.987063	D;P;D	0.89917	1.0;0.949;0.97	D;B;B	0.74023	0.982;0.18;0.334	T	0.10200	-1.0640	9	0.46703	T	0.11	.	4.1994	0.10458	0.1274:0.0:0.6469:0.2257	.	3;3;3	G3V1Y8;Q86U10;Q86U10-3	.;LPP60_HUMAN;.	H	3	ENSP00000450040:R3H;ENSP00000448911:R3H;ENSP00000389003:R3H	ENSP00000389003:R3H	R	+	2	0	ASPG	103621868	0.967000	0.33354	0.888000	0.34837	0.034000	0.12701	2.059000	0.41384	0.748000	0.32831	0.511000	0.50034	CGC		0.761	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		4	2	0	0	0	1	0	4	2				
WDFY3	23001	broad.mit.edu	37	4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:85719250C>T	ENST00000295888.4	-	18	3241	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R945H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	945					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R945H(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313																																						ENST00000322366.6																			1	Substitution - Missense(1)	p.R945H(1)	prostate(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2833-2835)cGt>cAt		WD repeat and FYVE domain containing 3							101.0	101.0	101.0					4																	85719250		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85719250C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2834G>A	4.37:g.85719250C>T	ENSP00000295888:p.Arg945His					WDFY3_ENST00000295888.4_Missense_Mutation_p.R945H	p.R945H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	18	3241	-		Hepatocellular(203;0.114)	945					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2834G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114865	0.94339	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62105	0.05;0.05	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.62955	0.909	T	0.79329	-0.1848	10	0.66056	D	0.02	.	19.7348	0.96198	0.0:1.0:0.0:0.0	.	945	Q8IZQ1	WDFY3_HUMAN	H	945	ENSP00000318466:R945H;ENSP00000295888:R945H	ENSP00000295888:R945H	R	-	2	0	WDFY3	85938274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.442000	0.80503	2.716000	0.92895	0.655000	0.94253	CGT		0.313	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		60	145	0	0	0	1	0	60	145				
NAGS	162417	broad.mit.edu	37	17	42085837	42085837	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:42085837C>T	ENST00000293404.3	+	7	1591	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	491	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)	p.G491G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACAGTGATGGCAGCTTCTCCA	0.498																																						ENST00000293404.3																			1	Substitution - coding silent(1)	p.G491G(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1471-1473)ggC>ggT		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						317.0	308.0	311.0					17																	42085837		2203	4300	6503	SO:0001819	synonymous_variant	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42085837C>T	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1473C>T	17.37:g.42085837C>T							p.G491G	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	7	1591	+		Breast(137;0.00536)|Prostate(33;0.0724)	491			N-acetyltransferase.		B2RAZ9|Q8IWR4	Silent	SNP	ENST00000293404.3	37	c.1473C>T	CCDS11473.1																																																																																				0.498	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		27	320	0	0	0	1	0	27	320				
DDX42	11325	broad.mit.edu	37	17	61864525	61864525	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:61864525T>C	ENST00000578681.1	+	3	717	c.116T>C	c.(115-117)tTt>tCt	p.F39S	DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000457800.2_Missense_Mutation_p.F39S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	39					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.F39S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CACAGTGCCTTTGGGGCAACC	0.502																																						ENST00000578681.1																			1	Substitution - Missense(1)	p.F39S(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(115-117)tTt>tCt		DEAD (Asp-Glu-Ala-Asp) box helicase 42							126.0	121.0	123.0					17																	61864525		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61864525T>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.116T>C	17.37:g.61864525T>C	ENSP00000464050:p.Phe39Ser					DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000457800.2_Missense_Mutation_p.F39S	p.F39S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			3	717	+			39					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.116T>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174005	0.78452	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.20738	2.05;2.05	5.57	5.57	0.84162	.	0.901057	0.09784	N	0.756306	T	0.21921	0.0528	L	0.50333	1.59	0.80722	D	1	P	0.48911	0.917	B	0.41135	0.348	T	0.10200	-1.0640	10	0.08381	T	0.77	-11.5982	14.9045	0.70709	0.0:0.0:0.0:1.0	.	39	Q86XP3	DDX42_HUMAN	S	39	ENSP00000374574:F39S;ENSP00000390121:F39S	ENSP00000374574:F39S	F	+	2	0	DDX42	59218257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.107000	0.64212	0.454000	0.30748	TTT		0.502	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		15	222	0	0	0	1	0	15	222				
HMCN1	83872	broad.mit.edu	37	1	185880818	185880818	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:185880818A>C	ENST00000271588.4	+	6	1035	c.806A>C	c.(805-807)aAa>aCa	p.K269T	HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	269					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.K269T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCTGATAAAAAAGGGATTT	0.393																																						ENST00000271588.4																			1	Substitution - Missense(1)	p.K269T(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(805-807)aAa>aCa		hemicentin 1							213.0	227.0	222.0					1																	185880818		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185880818A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.806A>C	1.37:g.185880818A>C	ENSP00000271588:p.Lys269Thr					HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	p.K269T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			6	1035	+			269					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.806A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	8.351	0.830991	0.16820	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.62639	0.01;0.01	5.63	5.63	0.86233	.	0.212444	0.51477	D	0.000096	T	0.33990	0.0882	N	0.04203	-0.255	0.30931	N	0.726908	B	0.17852	0.024	B	0.13407	0.009	T	0.31724	-0.9933	10	0.14656	T	0.56	.	6.9181	0.24371	0.7671:0.152:0.0809:0.0	.	269	Q96RW7	HMCN1_HUMAN	T	269	ENSP00000271588:K269T;ENSP00000356462:K269T	ENSP00000271588:K269T	K	+	2	0	HMCN1	184147441	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.047000	0.41269	2.269000	0.75478	0.454000	0.30748	AAA		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		24	389	0	0	0	1	0	24	389				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231318	29231318	+	lincRNA	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:29231318G>A	ENST00000441381.1	+	0	79																		p.S180F(1)									GACCATTGCAGATATTTCACA	0.433																																						ENST00000441381.1																			1	Substitution - Missense(1)	p.S180F(1)	prostate(1)																	58.0	55.0	56.0					6																	29231318		1861	4100	5961			0							g.chr6:29231318G>A																													6.37:g.29231318G>A														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.433	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			48	118	0	0	0	1	0	48	118				
MICB	4277	broad.mit.edu	37	6	31477560	31477560	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:31477560G>T	ENST00000252229.6	+	6	1105	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	MICB_ENST00000399150.3_Splice_Site_p.E299D|MICB_ENST00000538442.1_Splice_Site_p.E310D	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522																																						ENST00000252229.6																			1	Substitution - Missense(1)	p.E342D(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.e6-1		MHC class I polypeptide-related sequence B							125.0	122.0	123.0					6																	31477560		1238	2576	3814	SO:0001630	splice_region_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31477560G>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.1025-1G>T	6.37:g.31477560G>T						MICB_ENST00000538442.1_Splice_Site_p.E310_splice|MICB_ENST00000399150.3_Splice_Site_p.E299_splice	p.E342_splice	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			6	1105	+			342						Splice_Site	SNP	ENST00000252229.6	37	c.1024_splice	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	11.39	1.625924	0.28889	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00949	5.51;5.56;5.62	1.11	-0.991	0.10235	.	.	.	.	.	T	0.00695	0.0023	L	0.32530	0.975	0.09310	N	1	D;D;D	0.64830	0.974;0.994;0.994	D;D;D	0.70716	0.969;0.97;0.97	T	0.51576	-0.8688	9	0.59425	D	0.04	.	1.8088	0.03086	0.2375:0.0:0.4389:0.3236	.	310;299;342	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	D	310;299;342	ENSP00000442345:E310D;ENSP00000382103:E299D;ENSP00000252229:E342D	ENSP00000252229:E342D	E	+	3	2	MICB	31585539	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.379000	0.07437	-0.390000	0.07774	0.313000	0.20887	GAG		0.522	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	Missense_Mutation	30	136	1	0	7.01153e-11	1	7.51236e-11	30	136				
CYP26B1	56603	broad.mit.edu	37	2	72359460	72359460	+	Missense_Mutation	SNP	C	C	T	rs148075682	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:72359460C>T	ENST00000001146.2	-	6	1638	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	479			V -> I (in dbSNP:rs148075682). {ECO:0000269|Ref.4}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.V479I(2)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCAGGACGGGGACCAAG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		17593	0.002		0.0	False		,,,				2504	0.0					ENST00000001146.2																			2	Substitution - Missense(2)	p.V479I(2)	prostate(1)|lung(1)	breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1435-1437)Gtc>Atc		cytochrome P450, family 26, subfamily B, polypeptide 1		C	ILE/VAL	0,4404		0,0,2202	45.0	39.0	41.0		1435	3.8	0.9	2	dbSNP_134	41	1,8597	1.2+/-3.3	0,1,4298	no	missense	CYP26B1	NM_019885.2	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	479/513	72359460	1,13001	2202	4299	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72359460C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1435G>A	2.37:g.72359460C>T	ENSP00000001146:p.Val479Ile					CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I	p.V479I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			6	1638	-			479		V -> I.			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1435G>A	CCDS1919.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.723	1.160211	0.21454	0.0	1.16E-4	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68624	-0.34;-0.34;-0.34	5.64	3.77	0.43336	.	0.118844	0.56097	N	0.000028	T	0.44829	0.1312	N	0.16130	0.375	0.52099	D	0.999943	B;B;B	0.14438	0.01;0.005;0.003	B;B;B	0.15484	0.009;0.006;0.013	T	0.18618	-1.0331	10	0.15066	T	0.55	-1.2951	9.6914	0.40131	0.0:0.8206:0.0:0.1794	.	404;462;479	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	I	479;288;404	ENSP00000001146:V479I;ENSP00000401465:V288I;ENSP00000443304:V404I	ENSP00000001146:V479I	V	-	1	0	CYP26B1	72212968	0.996000	0.38824	0.929000	0.37066	0.995000	0.86356	3.328000	0.52052	0.780000	0.33566	0.655000	0.94253	GTC		0.642	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		3	27	0	0	0	1	0	3	27				
ABCA12	26154	broad.mit.edu	37	2	215914419	215914419	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:215914419G>T	ENST00000272895.7	-	6	843	c.624C>A	c.(622-624)aaC>aaA	p.N208K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	208					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.N208K(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCAAAATTTGTTAAAAACAT	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			1	Substitution - Missense(1)	p.N208K(1)	prostate(1)	NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(622-624)aaC>aaA		ATP-binding cassette, sub-family A (ABC1), member 12							84.0	83.0	83.0					2																	215914419		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215914419G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.624C>A	2.37:g.215914419G>T	ENSP00000272895:p.Asn208Lys						p.N208K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	6	843	-		Renal(323;0.127)	208					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.624C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	0.184	-1.059470	0.01950	.	.	ENSG00000144452	ENST00000272895	D	0.87650	-2.28	6.05	3.33	0.38152	.	0.416026	0.25380	N	0.031094	T	0.73690	0.3619	N	0.19112	0.55	0.44149	D	0.996944	B	0.26318	0.146	B	0.19666	0.026	T	0.63107	-0.6711	10	0.33141	T	0.24	.	5.4346	0.16474	0.2339:0.1453:0.6208:0.0	.	208	Q86UK0	ABCAC_HUMAN	K	208	ENSP00000272895:N208K	ENSP00000272895:N208K	N	-	3	2	ABCA12	215622664	0.056000	0.20664	0.997000	0.53966	0.509000	0.34042	0.010000	0.13242	0.470000	0.27294	0.655000	0.94253	AAC		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		28	103	1	0	2.48779e-11	1	2.71396e-11	28	103				
TYRO3	7301	broad.mit.edu	37	15	41860444	41860444	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:41860444G>A	ENST00000263798.3	+	8	1215	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	331	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A331T(1)|p.A323T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACCTCCATGCCATCCGCAC	0.572																																						ENST00000263798.3																			2	Substitution - Missense(2)	p.A331T(1)|p.A323T(1)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(991-993)Gcc>Acc		TYRO3 protein tyrosine kinase							60.0	58.0	59.0					15																	41860444		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41860444G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.991G>A	15.37:g.41860444G>A	ENSP00000263798:p.Ala331Thr					TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	p.A331T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1215	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	331			Fibronectin type-III 2.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.991G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213082	0.58452	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.60299	0.2	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001045	T	0.51584	0.1683	L	0.58101	1.795	0.32350	N	0.558623	P	0.35124	0.485	B	0.37550	0.253	T	0.62148	-0.6915	10	0.39692	T	0.17	-14.7784	7.3749	0.26823	0.1782:0.0:0.8217:0.0	.	331	Q06418	TYRO3_HUMAN	T	263;331	ENSP00000263798:A331T	ENSP00000263798:A331T	A	+	1	0	TYRO3	39647736	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	2.667000	0.46808	2.586000	0.87340	0.563000	0.77884	GCC		0.572	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			17	74	0	0	0	1	0	17	74				
KMT2C	58508	broad.mit.edu	37	7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:151845693T>C	ENST00000262189.6	-	52	13537	c.13319A>G	c.(13318-13320)tAt>tGt	p.Y4440C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y4497C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4440					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.Y4497C(1)|p.Y4440C(1)	prostate(2)								c.(13489-13491)tAt>tGt		lysine (K)-specific methyltransferase 2C							115.0	112.0	113.0					7																	151845693		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845693T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13319A>G	7.37:g.151845693T>C	ENSP00000262189:p.Tyr4440Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C							53	13708	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13490A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977861	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.70986	-0.53;-0.53;-0.53	5.24	5.24	0.73138	.	0.000000	0.39407	U	0.001380	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.84097	0.0393	10	0.59425	D	0.04	.	15.4242	0.75038	0.0:0.0:0.0:1.0	.	4440;3558;4497	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	C	4440;4497;1057	ENSP00000262189:Y4440C;ENSP00000347325:Y4497C;ENSP00000410411:Y1057C	ENSP00000262189:Y4440C	Y	-	2	0	MLL3	151476626	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.103000	0.63969	0.455000	0.32223	TAT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			70	195	0	0	0	1	0	70	195				
SMARCE1	6605	broad.mit.edu	37	17	38792754	38792754	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:38792754T>C	ENST00000348513.6	-	6	1042	c.262A>G	c.(262-264)Aac>Gac	p.N88D	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	88					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.N88D(1)		large_intestine(1)	1		Breast(137;0.000812)				AGGTCAGGGTTGGAAGCCTTT	0.363																																						ENST00000348513.6																			1	Substitution - Missense(1)	p.N88D(1)	prostate(1)	large_intestine(1)	1						c.(262-264)Aac>Gac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							110.0	102.0	105.0					17																	38792754		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38792754T>C	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.262A>G	17.37:g.38792754T>C	ENSP00000323967:p.Asn88Asp					SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|KRT222_ENST00000476049.1_3'UTR	p.N88D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			6	1042	-		Breast(137;0.000812)	88					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.262A>G	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143819	0.57044	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.74	5.74	0.90152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.042264	0.85682	D	0.000000	D	0.98988	0.9655	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.71674	0.996;0.992;0.998;0.997	D;D;D;D	0.71414	0.965;0.942;0.965;0.973	D	0.99705	1.1005	10	0.66056	D	0.02	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	53;70;53;88	C0IMW5;B4DGM3;C0IMW4;Q969G3	.;.;.;SMCE1_HUMAN	D	88;18;70;53	ENSP00000323967:N88D;ENSP00000441857:N18D;ENSP00000445370:N70D;ENSP00000367039:N53D	ENSP00000323967:N88D	N	-	1	0	SMARCE1	36046280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.920000	0.87521	2.317000	0.78254	0.459000	0.35465	AAC		0.363	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		68	179	0	0	0	1	0	68	179				
CDH18	1016	broad.mit.edu	37	5	19483619	19483619	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr5:19483619C>T	ENST00000507958.1	-	14	2663	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R558Q|CDH18_ENST00000274170.4_Missense_Mutation_p.R558Q|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	558	Cadherin 5. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R558L(2)|p.R558Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGAACAGTTCGACTAAATCT	0.458																																						ENST00000507958.1																			4	Substitution - Missense(4)	p.R558L(2)|p.R558Q(2)	prostate(2)|lung(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1672-1674)cGa>cAa		cadherin 18, type 2							101.0	85.0	90.0					5																	19483619		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483619C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1673G>A	5.37:g.19483619C>T	ENSP00000425093:p.Arg558Gln					CDH18_ENST00000274170.4_Missense_Mutation_p.R558Q|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R558Q	p.R558Q			Q13634	CAD18_HUMAN			14	2663	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		558			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1673G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080210	0.76528	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.59364	0.27;0.27;0.27	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.071240	0.64402	D	0.000020	T	0.64538	0.2607	M	0.85945	2.785	0.44899	D	0.997913	B	0.27166	0.17	B	0.26094	0.066	T	0.63075	-0.6718	9	.	.	.	.	18.3739	0.90428	0.0:1.0:0.0:0.0	.	558	Q13634	CAD18_HUMAN	Q	558	ENSP00000371710:R558Q;ENSP00000425093:R558Q;ENSP00000274170:R558Q	.	R	-	2	0	CDH18	19519376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.628000	0.54259	2.696000	0.92011	0.655000	0.94253	CGA		0.458	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		20	81	0	0	0	1	0	20	81				
CPS1	1373	broad.mit.edu	37	2	211421556	211421556	+	Silent	SNP	A	A	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:211421556A>G	ENST00000233072.5	+	1	295	c.99A>G	c.(97-99)agA>agG	p.R33R	CPS1_ENST00000430249.2_Silent_p.R39R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	33					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.R33R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AATTTTCAAGACCTGGCATCA	0.403																																						ENST00000233072.5																			1	Substitution - coding silent(1)	p.R33R(1)	prostate(1)	breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(97-99)agA>agG		carbamoyl-phosphate synthase 1, mitochondrial							104.0	104.0	104.0					2																	211421556		2203	4299	6502	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211421556A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.99A>G	2.37:g.211421556A>G						CPS1_ENST00000430249.2_Silent_p.R39R	p.R33R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	1	295	+			33					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.99A>G	CCDS2393.1																																																																																				0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			13	235	0	0	0	1	0	13	235				
WDR7	23335	broad.mit.edu	37	18	54591238	54591238	+	Silent	SNP	G	G	A	rs149456946	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr18:54591238G>A	ENST00000254442.3	+	22	3823	c.3612G>A	c.(3610-3612)ctG>ctA	p.L1204L	WDR7_ENST00000357574.3_Silent_p.L1171L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1204					hematopoietic progenitor cell differentiation (GO:0002244)			p.L1204L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCATTGATCTGATTGGACGTG	0.498																																						ENST00000254442.3																			1	Substitution - coding silent(1)	p.L1204L(1)	prostate(1)	NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3610-3612)ctG>ctA		WD repeat domain 7							172.0	143.0	153.0					18																	54591238		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54591238G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3612G>A	18.37:g.54591238G>A						WDR7_ENST00000357574.3_Silent_p.L1171L|WDR7_ENST00000589935.1_Intron	p.L1204L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3823	+			1204					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3612G>A	CCDS11962.1																																																																																				0.498	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			10	122	0	0	0	1	0	10	122				
ARGFX	503582	broad.mit.edu	37	3	121303769	121303769	+	Missense_Mutation	SNP	C	C	T	rs149102809		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr3:121303769C>T	ENST00000334384.3	+	3	236	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R76W(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGAAGCAATACGGAGAAGGCA	0.423																																						ENST00000334384.3																			1	Substitution - Missense(1)	p.R76W(1)	prostate(1)	kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(226-228)Cgg>Tgg		arginine-fifty homeobox		C	TRP/ARG	0,4406		0,0,2203	192.0	177.0	182.0		226	-6.2	0.0	3	dbSNP_134	182	2,8598	2.2+/-6.3	0,2,4298	no	missense	ARGFX	NM_001012659.1	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	76/316	121303769	2,13004	2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121303769C>T		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.226C>T	3.37:g.121303769C>T	ENSP00000335578:p.Arg76Trp						p.R76W	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	3	236	+			76						Missense_Mutation	SNP	ENST00000334384.3	37	c.226C>T	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553935	0.13374	0.0	2.33E-4	ENSG00000186103	ENST00000334384	T	0.14893	2.47	3.09	-6.18	0.02085	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	2.922090	0.01465	N	0.016044	T	0.13586	0.0329	L	0.49455	1.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24728	-1.0152	10	0.87932	D	0	15.9939	0.7736	0.01028	0.2997:0.3277:0.1521:0.2205	.	76	A6NJG6	ARGFX_HUMAN	W	76	ENSP00000335578:R76W	ENSP00000335578:R76W	R	+	1	2	ARGFX	122786459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.810000	0.01729	-1.519000	0.01775	-1.192000	0.01694	CGG		0.423	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		111	338	0	0	0	1	0	111	338				
SEMA6C	10500	broad.mit.edu	37	1	151105861	151105861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:151105861C>T	ENST00000341697.3	-	19	3583	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	631					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R631H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGTGGGCGCGGCGACAAGC	0.716																																						ENST00000341697.3																			1	Substitution - Missense(1)	p.R631H(1)	prostate(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1891-1893)cGc>cAc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							19.0	22.0	21.0					1																	151105861		2196	4290	6486	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151105861C>T	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1892G>A	1.37:g.151105861C>T	ENSP00000344148:p.Arg631His						p.R631H			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3583	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		631					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1892G>A	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504477	0.26949	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	3.99	1.92	0.25849	.	0.757669	0.12812	N	0.437127	T	0.09247	0.0228	N	0.02011	-0.69	0.29020	N	0.886361	B;B;B	0.21309	0.054;0.003;0.032	B;B;B	0.14023	0.01;0.005;0.004	T	0.22068	-1.0227	10	0.38643	T	0.18	.	7.1287	0.25488	0.0:0.7498:0.0:0.2502	.	623;663;631	Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;SEM6C_HUMAN	H	631;623;663;631	ENSP00000357910:R631H;ENSP00000357908:R623H;ENSP00000357909:R663H;ENSP00000344148:R631H	ENSP00000344148:R631H	R	-	2	0	SEMA6C	149372485	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	2.272000	0.43373	0.882000	0.36016	0.561000	0.74099	CGC		0.716	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		3	24	0	0	0	1	0	3	24				
LY75	4065	broad.mit.edu	37	2	160706545	160706545	+	Silent	SNP	C	C	T	rs114924959	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:160706545C>T	ENST00000263636.4	-	23	3123	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	LY75-CD302_ENST00000505052.1_Silent_p.T1032T|LY75_ENST00000554112.1_Silent_p.T1032T|LY75_ENST00000553424.1_Silent_p.T1032T|LY75-CD302_ENST00000504764.1_Silent_p.T1032T	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1032	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T1032T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGTTACTGTACGTCAGCTCTC	0.383													C|||	4	0.000798722	0.0	0.0014	5008	,	,		17265	0.0		0.003	False		,,,				2504	0.0					ENST00000263636.4																			1	Substitution - coding silent(1)	p.T1032T(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3094-3096)acG>acA		lymphocyte antigen 75		C	,,	4,4402	8.1+/-20.4	0,4,2199	177.0	169.0	172.0		3096,3096,3096	-4.1	1.0	2	dbSNP_132	172	18,8582	13.3+/-46.6	0,18,4282	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,22,6481	TT,TC,CC		0.2093,0.0908,0.1692	,,	1032/1874,1032/1818,1032/1723	160706545	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	4065							g.chr2:160706545C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3096G>A	2.37:g.160706545C>T						LY75-CD302_ENST00000504764.1_Silent_p.T1032T|LY75_ENST00000553424.1_Silent_p.T1032T|LY75-CD302_ENST00000505052.1_Silent_p.T1032T|LY75_ENST00000554112.1_Silent_p.T1032T	p.T1032T	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	23	3123	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.3096G>A	CCDS2211.1																																																																																				0.383	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			20	274	0	0	0	1	0	20	274				
FAM83B	222584	broad.mit.edu	37	6	54735357	54735357	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:54735357G>A	ENST00000306858.7	+	2	429	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	105								p.D105N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCAAATCTTGACTTAGGCTG	0.463																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.D105N(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(313-315)Gac>Aac		family with sequence similarity 83, member B							110.0	111.0	111.0					6																	54735357		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735357G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.313G>A	6.37:g.54735357G>A	ENSP00000304078:p.Asp105Asn						p.D105N	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	429	+	Lung NSC(77;0.0178)|Renal(3;0.122)		105					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.313G>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043898	0.75732	.	.	ENSG00000168143	ENST00000306858	T	0.14516	2.5	5.66	5.66	0.87406	.	0.209958	0.48286	D	0.000184	T	0.36248	0.0960	M	0.84511	2.7	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.22800	-1.0206	10	0.72032	D	0.01	-27.2773	20.0973	0.97856	0.0:0.0:1.0:0.0	.	105	Q5T0W9	FA83B_HUMAN	N	105	ENSP00000304078:D105N	ENSP00000304078:D105N	D	+	1	0	FAM83B	54843316	1.000000	0.71417	0.952000	0.39060	0.090000	0.18270	9.525000	0.98039	2.830000	0.97506	0.585000	0.79938	GAC		0.463	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		114	216	0	0	0	1	0	114	216				
PRDM7	11105	broad.mit.edu	37	16	90161168	90161168	+	5'Flank	SNP	T	T	G	rs8055740|rs371109645	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr16:90161168T>G	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCCTGTCCTCCGAGTCGAG	0.622													.|||	781	0.15595	0.2186	0.1527	5008	,	,		2545	0.003		0.2684	False		,,,				2504	0.1155					ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90161168T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161168T>G	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.622	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			4	1	0	0	0	1	0	4	1				
TEAD3	7005	broad.mit.edu	37	6	35444194	35444194	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:35444194G>A	ENST00000402886.3	-	7	584	c.431C>T	c.(430-432)cCg>cTg	p.P144L	TEAD3_ENST00000338863.7_Missense_Mutation_p.P204L			Q99594	TEAD3_HUMAN	TEA domain family member 3	204					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGAGGGGAGCGGGGCCAGGGG	0.607																																						ENST00000338863.7																			4	Substitution - Missense(4)	p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1)	prostate(2)|lung(2)	central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(610-612)cCg>cTg		TEA domain family member 3							59.0	74.0	69.0					6																	35444194		2107	4220	6327	SO:0001583	missense	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35444194G>A	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.431C>T	6.37:g.35444194G>A	ENSP00000384577:p.Pro144Leu					TEAD3_ENST00000402886.3_Missense_Mutation_p.P144L	p.P204L	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			9	838	-			204			Pro-rich.|Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000402886.3	37	c.611C>T		.	.	.	.	.	.	.	.	.	.	G	15.81	2.943291	0.53079	.	.	ENSG00000007866	ENST00000338863;ENST00000402886;ENST00000373905;ENST00000433586	T;T;T	0.30182	1.54;1.54;1.54	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.42245	1.32	0.80722	D	1	D;B;D	0.89917	1.0;0.011;1.0	D;B;D	0.97110	1.0;0.008;1.0	T	0.07927	-1.0747	10	0.52906	T	0.07	-26.464	10.6763	0.45787	0.0871:0.0:0.9129:0.0	.	144;220;204	B5MCM0;Q7Z6V0;Q99594	.;.;TEAD3_HUMAN	L	204;144;220;115	ENSP00000345772:P204L;ENSP00000384577:P144L;ENSP00000416400:P115L	ENSP00000345772:P204L	P	-	2	0	TEAD3	35552172	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.161000	0.71868	2.514000	0.84764	0.561000	0.74099	CCG		0.607	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			12	164	0	0	0	1	0	12	164				
HTT	3064	broad.mit.edu	37	4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A	rs369875192		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:3138037G>A	ENST00000355072.5	+	21	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	928					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.A928T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATGTTGCCGCAGCATCACT	0.378																																						ENST00000355072.5																			1	Substitution - Missense(1)	p.A928T(1)	prostate(1)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(2782-2784)Gca>Aca		huntingtin		G	THR/ALA	0,3748		0,0,1874	141.0	135.0	137.0		2782	5.7	0.2	4		137	1,8227		0,1,4113	no	missense	HTT	NM_002111.6	58	0,1,5987	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	928/3143	3138037	1,11975	1874	4114	5988	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3138037G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2782G>A	4.37:g.3138037G>A	ENSP00000347184:p.Ala928Thr						p.A928T	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	21	2927	+		all_epithelial(65;0.18)	928					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2782G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243531	0.95272	0.0	1.22E-4	ENSG00000197386	ENST00000355072	T	0.66815	-0.23	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74169	-0.3752	10	0.42905	T	0.14	.	19.9351	0.97137	0.0:0.0:1.0:0.0	.	928	P42858	HD_HUMAN	T	928	ENSP00000347184:A928T	ENSP00000347184:A928T	A	+	1	0	HTT	3107835	1.000000	0.71417	0.170000	0.22879	0.616000	0.37450	6.620000	0.74224	2.703000	0.92315	0.655000	0.94253	GCA		0.378	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	105	0	0	0	1	0	5	105				
NIN	51199	broad.mit.edu	37	14	51223295	51223295	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:51223295C>T	ENST00000382041.3	-	18	4643	c.4453G>A	c.(4453-4455)Gga>Aga	p.G1485R	NIN_ENST00000245441.5_Missense_Mutation_p.G1485R|NIN_ENST00000530997.2_Missense_Mutation_p.G1485R|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.G1485R|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.G1485R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1485					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G1491R(1)|p.G1485R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tccttttctccgtgagaaagt	0.413			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.G1491R(1)|p.G1485R(1)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(4453-4455)Gga>Aga		ninein (GSK3B interacting protein)							117.0	84.0	95.0					14																	51223295		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51223295C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.4453G>A	14.37:g.51223295C>T	ENSP00000371472:p.Gly1485Arg					NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.G1485R|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.G1485R|NIN_ENST00000382041.3_Missense_Mutation_p.G1485R|NIN_ENST00000530997.2_Missense_Mutation_p.G1485R	p.G1485R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	4643	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1485					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.4453G>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.927084|1.927084	0.34002|0.34002	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08807|.	3.33;3.05;3.06;3.06|.	5.59|5.59	4.69|4.69	0.59074|0.59074	EF-hand-like domain (1);|.	0.162902|.	0.42172|.	D|.	0.000741|.	T|T	0.61362|0.61362	0.2341|0.2341	M|M	0.67953|0.67953	2.075|2.075	0.32202|0.32202	N|N	0.577671|0.577671	D;D;D;D|.	0.67145|.	0.993;0.992;0.986;0.996|.	P;P;P;P|.	0.56514|.	0.728;0.8;0.728;0.8|.	T|T	0.68930|0.68930	-0.5279|-0.5279	10|5	0.10377|.	T|.	0.69|.	-9.137|-9.137	12.4423|12.4423	0.55631|0.55631	0.0:0.8313:0.1687:0.0|0.0:0.8313:0.1687:0.0	.|.	1491;1485;1485;1485|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	R|Q	1485;1468;1491;1485;1485;1485|975	ENSP00000245441:G1485R;ENSP00000371472:G1485R;ENSP00000324210:G1485R;ENSP00000412391:G1485R|.	ENSP00000245441:G1485R|.	G|R	-|-	1|2	0|0	NIN|NIN	50293045|50293045	0.981000|0.981000	0.34729|0.34729	0.991000|0.991000	0.47740|0.47740	0.733000|0.733000	0.41908|0.41908	2.712000|2.712000	0.47186|0.47186	1.335000|1.335000	0.45486|0.45486	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.413	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		4	59	0	0	0	1	0	4	59				
BCRP7	100133163	broad.mit.edu	37	22	18846113	18846113	+	3'UTR	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr22:18846113C>T	ENST00000412938.1	+	0	3471																											ATCTCCTCCACGCACTGGCGC	0.612																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846113C>T																												ENST00000412938.1:c.*3468C>T	22.37:g.18846113C>T														0	3471	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.612	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	39	0	0	0	1	0	4	39				
CNTNAP5	129684	broad.mit.edu	37	2	125660643	125660643	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:125660643T>A	ENST00000431078.1	+	22	3982	c.3618T>A	c.(3616-3618)gaT>gaA	p.D1206E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1206					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D1206E(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGACTCAGATGTGAATGCAG	0.532																																						ENST00000431078.1																			2	Substitution - Missense(2)	p.D1206E(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3616-3618)gaT>gaA		contactin associated protein-like 5							57.0	57.0	57.0					2																	125660643		2104	4230	6334	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660643T>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3618T>A	2.37:g.125660643T>A	ENSP00000399013:p.Asp1206Glu						p.D1206E	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	22	3982	+			1206					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3618T>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209598	0.39003	.	.	ENSG00000155052	ENST00000431078	D	0.86865	-2.18	5.26	0.938	0.19500	.	0.252836	0.27064	N	0.021110	T	0.78355	0.4270	L	0.47016	1.485	0.23293	N	0.997965	P	0.46912	0.886	B	0.42738	0.396	T	0.67818	-0.5572	10	0.13108	T	0.6	.	5.2227	0.15377	0.1265:0.2978:0.0:0.5757	.	1206	Q8WYK1	CNTP5_HUMAN	E	1206	ENSP00000399013:D1206E	ENSP00000399013:D1206E	D	+	3	2	CNTNAP5	125377113	0.413000	0.25400	0.165000	0.22776	0.934000	0.57294	-0.250000	0.08830	0.211000	0.20683	0.459000	0.35465	GAT		0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			15	15	0	0	0	1	0	15	15				
PKP2	5318	broad.mit.edu	37	12	32975445	32975445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:32975445T>C	ENST00000070846.6	-	9	1951	c.1927A>G	c.(1927-1929)Aaa>Gaa	p.K643E	PKP2_ENST00000340811.4_Missense_Mutation_p.K599E	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	643					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.K643E(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAATACTTTTGTTGTTGTCA	0.403																																						ENST00000340811.4																			1	Substitution - Missense(1)	p.K643E(1)	prostate(1)	NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1795-1797)Aaa>Gaa		plakophilin 2							128.0	121.0	123.0					12																	32975445		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32975445T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1927A>G	12.37:g.32975445T>C	ENSP00000070846:p.Lys643Glu					PKP2_ENST00000070846.6_Missense_Mutation_p.K643E	p.K599E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			8	1903	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		643					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1795A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403312	0.25291	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.74947	-0.89;-0.89	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.407398	0.26244	N	0.025493	T	0.61850	0.2380	L	0.33485	1.01	0.33762	D	0.622018	B;B;B	0.17268	0.006;0.004;0.021	B;B;B	0.15052	0.01;0.004;0.012	T	0.63139	-0.6704	10	0.12103	T	0.63	-11.5073	13.3952	0.60849	0.0:0.0:0.0:1.0	.	599;599;643	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	E	599;643;643	ENSP00000342800:K599E;ENSP00000070846:K643E	ENSP00000070846:K643E	K	-	1	0	PKP2	32866712	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	2.490000	0.45294	1.888000	0.54679	0.460000	0.39030	AAA		0.403	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		11	125	0	0	0	1	0	11	125				
ARHGEF39	84904	broad.mit.edu	37	9	35662635	35662635	+	Silent	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662635C>T	ENST00000378387.3	-	7	894	c.777G>A	c.(775-777)aaG>aaA	p.K259K	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Silent_p.K223K|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	259	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K259K(1)									GAGGCCGAGGCTTGGCCATGA	0.632																																						ENST00000378387.3																			1	Substitution - coding silent(1)	p.K259K(1)	prostate(1)								c.(775-777)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 39							32.0	31.0	31.0					9																	35662635		2203	4300	6503	SO:0001819	synonymous_variant	84904							g.chr9:35662635C>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.777G>A	9.37:g.35662635C>T						ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.K223K	p.K259K	NM_032818.2	NP_116207.2					7	894	-								Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	ENST00000378387.3	37	c.777G>A	CCDS6584.2																																																																																				0.632	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		20	23	0	0	0	1	0	20	23				
ROR2	4920	broad.mit.edu	37	9	94486051	94486051	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:94486051C>T	ENST00000375708.3	-	9	2923	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	909					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.V909M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTTCCTGCACGGTGCTCTGG	0.637																																						ENST00000375708.3																			1	Substitution - Missense(1)	p.V909M(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2725-2727)Gtg>Atg		receptor tyrosine kinase-like orphan receptor 2							83.0	84.0	84.0					9																	94486051		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486051C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2725G>A	9.37:g.94486051C>T	ENSP00000364860:p.Val909Met					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.V909M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2923	-			909					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2725G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495711	0.26774	.	.	ENSG00000169071	ENST00000375708	T	0.78481	-1.18	4.75	4.75	0.60458	.	0.000000	0.38005	N	0.001857	T	0.70316	0.3210	N	0.08118	0	0.39472	D	0.967735	D	0.67145	0.996	P	0.51453	0.67	T	0.77453	-0.2582	10	0.51188	T	0.08	.	17.9502	0.89051	0.0:1.0:0.0:0.0	.	909	Q01974	ROR2_HUMAN	M	909	ENSP00000364860:V909M	ENSP00000364860:V909M	V	-	1	0	ROR2	93525872	1.000000	0.71417	0.997000	0.53966	0.020000	0.10135	4.545000	0.60698	2.466000	0.83321	0.561000	0.74099	GTG		0.637	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			39	185	0	0	0	1	0	39	185				
EED	8726	broad.mit.edu	37	11	85968564	85968564	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:85968564T>G	ENST00000263360.6	+	6	1246	c.560T>G	c.(559-561)gTt>gGt	p.V187G	EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	187	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.V187G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TAGCACTATGTTGGCCATGGA	0.303																																						ENST00000263360.6																			1	Substitution - Missense(1)	p.V187G(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(559-561)gTt>gGt		embryonic ectoderm development							86.0	79.0	81.0					11																	85968564		2202	4299	6501	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85968564T>G	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.560T>G	11.37:g.85968564T>G	ENSP00000263360:p.Val187Gly					EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	p.V187G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			6	1246	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	187			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.560T>G	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573196	0.65765	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.56199	1.76	0.80722	D	1	P;P;D;P	0.63046	0.8;0.92;0.992;0.69	P;P;D;P	0.65010	0.618;0.723;0.931;0.666	T	0.40194	-0.9576	9	.	.	.	-18.1676	15.5428	0.76070	0.0:0.0:0.0:1.0	.	187;187;187;187	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	G	187	ENSP00000263360:V187G;ENSP00000431778:V187G;ENSP00000338186:V187G;ENSP00000315587:V187G	.	V	+	2	0	EED	85646212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.136000	0.66102	0.533000	0.62120	GTT		0.303	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		4	90	0	0	0	1	0	4	90				
C1orf174	339448	broad.mit.edu	37	1	3807511	3807511	+	Silent	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:3807511G>A	ENST00000361605.3	-	3	338	c.240C>T	c.(238-240)agC>agT	p.S80S	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	80						nucleus (GO:0005634)		p.S80S(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCAAAGAAGCGCTGTCATTCT	0.498																																						ENST00000361605.3																			1	Substitution - coding silent(1)	p.S80S(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11						c.(238-240)agC>agT		chromosome 1 open reading frame 174							78.0	83.0	81.0					1																	3807511		2203	4300	6503	SO:0001819	synonymous_variant	339448							g.chr1:3807511G>A	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.240C>T	1.37:g.3807511G>A						C1orf174_ENST00000486765.1_5'UTR	p.S80S	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	3	338	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	80					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	c.240C>T	CCDS53.1																																																																																				0.498	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		71	144	0	0	0	1	0	71	144				
SSSCA1	10534	broad.mit.edu	37	11	65339161	65339161	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:65339161G>A	ENST00000309328.3	+	4	618	c.556G>A	c.(556-558)Gca>Aca	p.A186T	FAM89B_ENST00000530349.1_5'Flank|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000531405.1_Missense_Mutation_p.A149T|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	186					mitotic nuclear division (GO:0007067)			p.A186T(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCTTATCCGCGCATGTGCGGA	0.572																																						ENST00000531405.1																			1	Substitution - Missense(1)	p.A186T(1)	prostate(1)	kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(445-447)Gca>Aca		Sjogren syndrome/scleroderma autoantigen 1							40.0	33.0	35.0					11																	65339161		2200	4297	6497	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65339161G>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.556G>A	11.37:g.65339161G>A	ENSP00000312318:p.Ala186Thr					SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000309328.3_Missense_Mutation_p.A186T|SSSCA1_ENST00000526877.1_3'UTR	p.A149T			O60232	SSA27_HUMAN			3	681	+			186						Missense_Mutation	SNP	ENST00000309328.3	37	c.445G>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558133	0.45590	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.46451	0.87;0.87	4.35	4.35	0.52113	.	0.268530	0.38837	N	0.001542	T	0.27063	0.0663	L	0.29908	0.895	0.80722	D	1	B	0.31209	0.313	B	0.17722	0.019	T	0.11372	-1.0590	10	0.49607	T	0.09	-7.3685	9.6184	0.39706	0.0:0.0:0.7917:0.2083	.	186	O60232	SSA27_HUMAN	T	186;149;180	ENSP00000312318:A186T;ENSP00000435432:A180T	ENSP00000312318:A186T	A	+	1	0	SSSCA1	65095737	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	2.453000	0.44970	2.266000	0.75297	0.561000	0.74099	GCA		0.572	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		3	48	0	0	0	1	0	3	48				
ARHGEF10L	55160	broad.mit.edu	37	1	17949669	17949669	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:17949669C>T	ENST00000361221.3	+	12	1358	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	ARHGEF10L_ENST00000375420.3_Splice_Site_p.S158L|ARHGEF10L_ENST00000167825.4_Splice_Site_p.S178L|ARHGEF10L_ENST00000375415.1_Splice_Site_p.S361L|ARHGEF10L_ENST00000434513.1_Splice_Site_p.S400L|ARHGEF10L_ENST00000452522.1_Splice_Site_p.S361L|ARHGEF10L_ENST00000375408.3_Splice_Site_p.S178L|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	400	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S400L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTCGTGGCCTCGGTAAGTGTC	0.602																																						ENST00000361221.3																			3	Substitution - Missense(3)	p.S400L(3)	prostate(3)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.e12+1		Rho guanine nucleotide exchange factor (GEF) 10-like							90.0	82.0	85.0					1																	17949669		2203	4300	6503	SO:0001630	splice_region_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17949669C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1200+1C>T	1.37:g.17949669C>T						ARHGEF10L_ENST00000452522.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000375420.3_Splice_Site_p.S158_splice|ARHGEF10L_ENST00000375415.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000167825.4_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000434513.1_Splice_Site_p.S400_splice	p.S400_splice	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	12	1358	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	400			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Splice_Site	SNP	ENST00000361221.3	37	c.1200_splice	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996292	0.74818	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.67	4.67	0.58626	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	T	0.40619	0.1124	L	0.34521	1.04	0.26892	N	0.967306	D;D;D;P;D;D;D;D	0.89917	0.999;0.998;0.999;0.839;0.999;0.998;1.0;1.0	D;D;D;B;D;D;D;D	0.97110	0.977;0.937;0.98;0.228;0.964;0.955;0.999;1.0	T	0.22800	-1.0206	10	0.51188	T	0.08	-12.2766	16.1422	0.81534	0.0:1.0:0.0:0.0	.	178;158;400;178;166;361;361;400	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	L	400;361;400;361;158;178;178;178	ENSP00000355060:S400L;ENSP00000399401:S361L;ENSP00000394621:S400L;ENSP00000364564:S361L;ENSP00000364569:S158L;ENSP00000364557:S178L;ENSP00000167825:S178L	ENSP00000167825:S178L	S	+	2	0	ARHGEF10L	17822256	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	5.708000	0.68377	2.134000	0.65973	0.561000	0.74099	TCG		0.602	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	Missense_Mutation	30	71	0	0	0	1	0	30	71				
BMS1P20	96610	broad.mit.edu	37	22	22662995	22662995	+	RNA	SNP	C	C	T	rs79792109		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr22:22662995C>T	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TTTATTGTGTCACATAGAATT	0.348																																						ENST00000426066.1																			0																																																			0							g.chr22:22662995C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662995C>T								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	30	0	0	0	1	0	4	30				
MX2	4600	broad.mit.edu	37	21	42762561	42762561	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr21:42762561G>A	ENST00000330714.3	+	6	986	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	268	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V268M(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557																																						ENST00000330714.3																			1	Substitution - Missense(1)	p.V268M(1)	prostate(1)	breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(802-804)Gtg>Atg		myxovirus (influenza virus) resistance 2 (mouse)							208.0	164.0	179.0					21																	42762561		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42762561G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.802G>A	21.37:g.42762561G>A	ENSP00000333657:p.Val268Met					MX2_ENST00000543692.1_Intron	p.V268M	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			6	986	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	268					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.802G>A	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580079	0.65992	.	.	ENSG00000183486	ENST00000330714	D	0.97066	-4.23	3.92	2.07	0.26955	Dynamin, GTPase domain (2);	0.071683	0.56097	N	0.000038	D	0.98277	0.9429	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97662	1.0161	10	0.62326	D	0.03	-17.992	9.399	0.38420	0.1854:0.0:0.8146:0.0	.	268	P20592	MX2_HUMAN	M	268	ENSP00000333657:V268M	ENSP00000333657:V268M	V	+	1	0	MX2	41684431	1.000000	0.71417	0.941000	0.38009	0.952000	0.60782	3.873000	0.56093	0.389000	0.25086	-0.157000	0.13467	GTG		0.557	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		78	78	0	0	0	1	0	78	78				
ARHGEF39	84904	broad.mit.edu	37	9	35662634	35662634	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:35662634G>T	ENST00000378387.3	-	7	895	c.778C>A	c.(778-780)Cct>Act	p.P260T	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	260	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P260T(1)									GGAGGCCGAGGCTTGGCCATG	0.632																																						ENST00000378387.3																			1	Substitution - Missense(1)	p.P260T(1)	prostate(1)								c.(778-780)Cct>Act		Rho guanine nucleotide exchange factor (GEF) 39							32.0	31.0	31.0					9																	35662634		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35662634G>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.778C>A	9.37:g.35662634G>T	ENSP00000367638:p.Pro260Thr					ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T	p.P260T	NM_032818.2	NP_116207.2					7	895	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.778C>A	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004241	0.54254	.	.	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.41758	0.99;0.99	5.95	5.95	0.96441	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053698	0.85682	D	0.000000	T	0.47525	0.1450	L	0.55481	1.735	0.80722	D	1	P	0.42785	0.79	P	0.45406	0.479	T	0.44112	-0.9349	10	0.59425	D	0.04	-7.3358	15.8855	0.79244	0.0:0.0:1.0:0.0	.	260	Q8N4T4	CI100_HUMAN	T	260;224	ENSP00000367638:P260T;ENSP00000367648:P224T	ENSP00000367638:P260T	P	-	1	0	C9orf100	35652634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.695000	0.74593	2.825000	0.97269	0.655000	0.94253	CCT		0.632	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		21	23	1	0	2.37509e-13	1	2.68878e-13	21	23				
MKI67	4288	broad.mit.edu	37	10	129900972	129900972	+	Silent	SNP	G	G	C			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:129900972G>C	ENST00000368654.3	-	13	9507	c.9132C>G	c.(9130-9132)ccC>ccG	p.P3044P	MKI67_ENST00000368653.3_Silent_p.P2684P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3044					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P3044P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATGACCACGGGTTCGGATG	0.517																																						ENST00000368654.3																			1	Substitution - coding silent(1)	p.P3044P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9130-9132)ccC>ccG		marker of proliferation Ki-67							156.0	148.0	151.0					10																	129900972		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129900972G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9132C>G	10.37:g.129900972G>C						MKI67_ENST00000368653.3_Silent_p.P2684P	p.P3044P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9507	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3044					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.9132C>G	CCDS7659.1																																																																																				0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	296	0	0	0	1	0	10	296				
RECQL5	9400	broad.mit.edu	37	17	73627745	73627745	+	Silent	SNP	G	G	A			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:73627745G>A	ENST00000317905.5	-	9	1392	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.C384C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	411					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.C384C(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGCATGGCGGCACCTGGAGC	0.692								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5																			1	Substitution - coding silent(1)	p.C384C(1)	prostate(1)	breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(1231-1233)tgC>tgT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							19.0	23.0	22.0					17																	73627745		2161	4248	6409	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627745G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1233C>T	17.37:g.73627745G>A						RECQL5_ENST00000423245.2_Silent_p.C384C|RECQL5_ENST00000443199.2_5'UTR	p.C411C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		9	1392	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		411					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.1233C>T	CCDS42380.1																																																																																				0.692	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		3	38	0	0	0	1	0	3	38				
LOC101929023	101929023	broad.mit.edu	37	1	116972907	116972908	+	lincRNA	INS	-	-	TTCT	rs60102925|rs141121225		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:116972907_116972908insTTCT	ENST00000449303.2	-	0	283																											tttctttctccttctttctttc	0.411																																						ENST00000449303.2																			0																																																			0							g.chr1:116972907_116972908insTTCT																													1.37:g.116972912_116972915dupTTCT														0	283	-									RNA	INS	ENST00000449303.2	37																																																																																						0.411	RP4-655J12.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469177.1			2	4						2	4	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75673298	75673298	+	Intron	DEL	A	A	-			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156.0	188.0	177.0					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		7	790						7	790	---	---	---	---
SLC22A20	440044	broad.mit.edu	37	11	64997532	64997532	+	RNA	DEL	T	T	-	rs367710721|rs373775498		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:64997532delT	ENST00000525437.1	+	0	1081							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ccttccttcctttccttcctt	0.388																																						ENST00000525437.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8																																														0				ion transport	integral to membrane	transmembrane transporter activity	g.chr11:64997532delT	DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64997532delT										A6NK97	S22AK_HUMAN			0	1081	+								B9EJB2|Q6ZN88	RNA	DEL	ENST00000525437.1	37																																																																																						0.388	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326		3	6						3	6	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32920998	32921007	+	Splice_Site	DEL	GAATTGGTAG	GAATTGGTAG	-	rs372419991		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:32920998_32921007delGAATTGGTAG	ENST00000361627.3	+	7	1654_1659	c.932_937delGAATTGGTAG	c.(931-939)agaattggt>agt	p.RIG311fs	ARHGAP11A_ENST00000567348.1_Splice_Site_p.RIG311fs|ARHGAP11A_ENST00000543522.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000565905.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000563864.1_Splice_Site_p.RIG311fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	311					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A313P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAGAAGAAAGAATTGGTAGGTATTTATTA	0.238																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			1	Substitution - Missense(1)	p.A313P(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.e7+1		Rho GTPase activating protein 11A																																				SO:0001630	splice_region_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32920998_32921007delGAATTGGTAG	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.937+1GAATTGGTAG>-	15.37:g.32920998_32921007delGAATTGGTAG						ARHGAP11A_ENST00000563864.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.S122_splice|ARHGAP11A_ENST00000567348.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.S122_splice	p.S311_splice	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	7	1654_1659	+		all_lung(180;1.3e-11)	311					B4DZN9|Q6PI96|Q9Y3S6	Splice_Site	DEL	ENST00000361627.3	37	c.937_splice	CCDS10028.1																																																																																				0.238	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	Frame_Shift_Del	13	141						13	141	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)aagfs	p.K737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.K737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2209-2211)acafs		ATPase, class I, type 8B, member 4																																				SO:0001589	frameshift_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50193367_50193368insT	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2211dupA	15.37:g.50193374_50193374dupT	ENSP00000284509:p.Lys737fs					ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	21	2351_2352	-		all_lung(180;0.00183)	737					Q9H727	Frame_Shift_Ins	INS	ENST00000284509.6	37	c.2210_2211insA	CCDS32238.1																																																																																				0.361	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		7	177						7	177	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940066	22940066	+	IGR	DEL	A	A	-	rs375870113		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:22940066delA	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Frame_Shift_Del_p.F755fs	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGAATTGTTAAAAGCTTTGC	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2263-2265)ttfs		zinc finger protein 99							42.0	48.0	46.0					19																	22940066		2042	4212	6254	SO:0001628	intergenic_variant	7652							g.chr19:22940066delA	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940066delA							p.F755fs							6	2264	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Frame_Shift_Del	DEL	ENST00000596209.1	37	c.2265delT	CCDS59369.1																																																																																				0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		31	156						31	156	---	---	---	---
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492089	34492090	+	lincRNA	INS	-	-	T			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr22:34492089_34492090insT	ENST00000412218.1	+	0	114																											ctgccttgctgtttTTTTTTGT	0.366																																						ENST00000412218.1																			0																																																			0							g.chr22:34492089_34492090insT																													22.37:g.34492098_34492098dupT														0	114	+									RNA	INS	ENST00000412218.1	37																																																																																						0.366	LL22NC03-86D4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320580.3			2	4						2	4	---	---	---	---
