#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
LRP2	4036	broad.mit.edu	37	2	170068686	170068686	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:170068686G>T	ENST00000263816.3	-	37	6357	c.6072C>A	c.(6070-6072)aaC>aaA	p.N2024K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2024	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CATTCATGTTGTTGCTACAGC	0.443																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6070-6072)aaC>aaA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						76.0	81.0	80.0					2																	170068686		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170068686G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6072C>A	2.37:g.170068686G>T	ENSP00000263816:p.Asn2024Lys						p.N2024K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6357	-			2024			EGF-like 8.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6072C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260500	0.59431	.	.	ENSG00000081479	ENST00000263816	D	0.96232	-3.95	5.88	1.52	0.23074	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.084779	0.85682	D	0.000000	D	0.95020	0.8388	L	0.43701	1.375	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.91486	0.5208	10	0.05959	T	0.93	.	6.5398	0.22375	0.3361:0.1323:0.5317:0.0	.	2024	P98164	LRP2_HUMAN	K	2024	ENSP00000263816:N2024K	ENSP00000263816:N2024K	N	-	3	2	LRP2	169776932	0.997000	0.39634	0.980000	0.43619	0.899000	0.52679	0.981000	0.29526	0.387000	0.25024	-0.176000	0.13171	AAC		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	66	1	0	2.56e-06	1	3.10303e-06	4	66				
PKHD1L1	93035	broad.mit.edu	37	8	110418625	110418625	+	Silent	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110418625T>A	ENST00000378402.5	+	17	1835	c.1731T>A	c.(1729-1731)tcT>tcA	p.S577S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	577					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTCTGGTCTATAAAACCGG	0.363										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1729-1731)tcT>tcA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							60.0	54.0	56.0					8																	110418625		1855	4100	5955	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110418625T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1731T>A	8.37:g.110418625T>A		HNSCC(38;0.096)					p.S577S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		17	1835	+			577					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.1731T>A	CCDS47911.1																																																																																				0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		3	5	0	0	0	1	0	3	5				
THAP9	79725	broad.mit.edu	37	4	83821890	83821890	+	5'Flank	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:83821890A>G	ENST00000302236.5	+	0	0				THAP9-AS1_ENST00000512932.1_RNA|THAP9-AS1_ENST00000511271.1_RNA|THAP9-AS1_ENST00000508772.1_RNA|THAP9-AS1_ENST00000504869.1_RNA|THAP9-AS1_ENST00000513581.1_RNA|THAP9-AS1_ENST00000505028.1_RNA|THAP9-AS1_ENST00000504792.2_RNA|THAP9-AS1_ENST00000509007.1_RNA|THAP9-AS1_ENST00000507660.1_RNA|THAP9-AS1_ENST00000503704.1_RNA|THAP9-AS1_ENST00000504520.2_RNA|SEC31A_ENST00000355196.2_5'Flank|THAP9-AS1_ENST00000504718.1_RNA	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9						DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAACGGGCGGAGCTAAAGTGG	0.607																																						ENST00000504520.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr4:83821890A>G	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291		4.37:g.83821890A>G	Exception_encountered							NR_034076.1						0	223	-								B3KRE2|Q59AC9	RNA	SNP	ENST00000302236.5	37		CCDS3598.1																																																																																				0.607	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		13	30	0	0	0	1	0	13	30				
SERPINB8	5271	broad.mit.edu	37	18	61654342	61654342	+	Missense_Mutation	SNP	G	G	A	rs375110009		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61654342G>A	ENST00000397985.2	+	7	1211	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	319					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAGTGCTTCGTGGAGGTCAA	0.527																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(955-957)Gtg>Atg		serpin peptidase inhibitor, clade B (ovalbumin), member 8		G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	90.0	76.0	81.0		955,955	3.9	0.5	18		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SERPINB8	NM_002640.3,NM_198833.1	21,21	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	319/375,319/375	61654342	2,13004	2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654342G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.955G>A	18.37:g.61654342G>A	ENSP00000381072:p.Val319Met					SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M	p.V319M	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1211	+		Esophageal squamous(42;0.129)	319					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.955G>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119892	0.77323	2.27E-4	1.16E-4	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.83673	-1.75;-1.75;2.65	5.65	3.86	0.44501	Serpin domain (3);	0.051607	0.85682	D	0.000000	D	0.90882	0.7135	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91093	0.4908	10	0.87932	D	0	.	10.5453	0.45056	0.0712:0.1339:0.7949:0.0	.	319	P50452	SPB8_HUMAN	M	319;319;137	ENSP00000381072:V319M;ENSP00000331368:V319M;ENSP00000438328:V137M	ENSP00000331368:V319M	V	+	1	0	SERPINB8	59805322	1.000000	0.71417	0.527000	0.27925	0.965000	0.64279	4.674000	0.61612	0.930000	0.37217	-0.176000	0.13171	GTG		0.527	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		7	34	0	0	0	1	0	7	34				
ZP2	7783	broad.mit.edu	37	16	21218255	21218255	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:21218255G>A	ENST00000574002.1	-	6	869	c.387C>T	c.(385-387)caC>caT	p.H129H	ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	129					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGACAGCTCCGTGTCTTAAGG	0.478																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(385-387)caC>caT		zona pellucida glycoprotein 2 (sperm receptor)							241.0	198.0	212.0					16																	21218255		2199	4300	6499	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21218255G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.387C>T	16.37:g.21218255G>A						ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H	p.H129H			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	869	-			129					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.387C>T	CCDS10596.1																																																																																				0.478	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			49	79	0	0	0	1	0	49	79				
USP33	23032	broad.mit.edu	37	1	78163125	78163125	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:78163125C>A	ENST00000370793.1	-	25	3052	c.2706G>T	c.(2704-2706)tgG>tgT	p.W902C	USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	902	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCAGAAAATTCCATGTTTCTT	0.363																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(2704-2706)tgG>tgT		ubiquitin specific peptidase 33							88.0	95.0	92.0					1																	78163125		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78163125C>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2706G>T	1.37:g.78163125C>A	ENSP00000359829:p.Trp902Cys					USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	p.W902C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			25	3052	-			902			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2706G>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.264964	0.80358	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.31510	1.55;1.49;1.49	5.0	5.0	0.66597	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75761	-0.3204	10	0.87932	D	0	.	18.6967	0.91603	0.0:1.0:0.0:0.0	.	902	Q8TEY7	UBP33_HUMAN	C	871;902;902	ENSP00000359830:W871C;ENSP00000359829:W902C;ENSP00000350009:W902C	ENSP00000350009:W902C	W	-	3	0	USP33	77935713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.366000	0.79548	2.486000	0.83907	0.650000	0.86243	TGG		0.363	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		6	114	1	0	0.00116845	1	0.00127467	6	114				
OR51B5	282763	broad.mit.edu	37	11	5364717	5364717	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:5364717G>A	ENST00000300773.2	-	1	92	c.38C>T	c.(37-39)aCt>aTt	p.T13I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	13					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAAACCAGTCAATAGGAA	0.443																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(37-39)aCt>aTt		olfactory receptor, family 51, subfamily B, member 5							26.0	33.0	31.0					11																	5364717		2192	4296	6488	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364717G>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.38C>T	11.37:g.5364717G>A	ENSP00000300773:p.Thr13Ile					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.T13I	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	92	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	13					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.38C>T	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209837	0.58343	.	.	ENSG00000242180	ENST00000300773	T	0.00289	8.28	4.78	3.85	0.44370	.	0.415574	0.17737	N	0.163714	T	0.00440	0.0014	L	0.55481	1.735	0.25754	N	0.985027	D	0.67145	0.996	D	0.71414	0.973	T	0.54221	-0.8326	10	0.51188	T	0.08	.	8.2545	0.31746	0.0:0.2826:0.5574:0.1599	.	13	Q9H339	O51B5_HUMAN	I	13	ENSP00000300773:T13I	ENSP00000300773:T13I	T	-	2	0	OR51B5	5321293	0.000000	0.05858	0.999000	0.59377	0.946000	0.59487	-0.156000	0.10100	1.210000	0.43336	0.650000	0.86243	ACT		0.443	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		6	21	0	0	0	1	0	6	21				
FUCA1	2517	broad.mit.edu	37	1	24175224	24175224	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:24175224C>A	ENST00000374479.3	-	6	1082	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	359					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCCATTTCCCAACAGCAAGA	0.463																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(1075-1077)Ggg>Tgg		fucosidase, alpha-L- 1, tissue							134.0	113.0	120.0					1																	24175224		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24175224C>A	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1075G>T	1.37:g.24175224C>A	ENSP00000363603:p.Gly359Trp						p.G359W	NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	6	1082	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	359					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.1075G>T	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530705	0.85706	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.70045	-0.45	4.86	4.86	0.63082	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.089238	0.85682	D	0.000000	D	0.90307	0.6968	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94449	0.7665	10	0.87932	D	0	-15.4484	18.6119	0.91288	0.0:1.0:0.0:0.0	.	359	P04066	FUCO_HUMAN	W	359;148	ENSP00000363603:G359W	ENSP00000363599:G148W	G	-	1	0	FUCA1	24047811	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	7.294000	0.78760	2.687000	0.91594	0.650000	0.86243	GGG		0.463	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		4	64	1	0	0.150653	1	0.155848	4	64				
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304534	66304534	+	RNA	SNP	C	C	G	rs564952828		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:66304534C>G	ENST00000457166.1	-	0	271					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TACCTGTCAGCATCTCCATCC	0.547																																						ENST00000457166.1																			0																																																			0							g.chr7:66304534C>G			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304534C>G								NR_003934.1						0	271	-									RNA	SNP	ENST00000457166.1	37																																																																																						0.547	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		4	27	0	0	0	1	0	4	27				
KCNQ3	3786	broad.mit.edu	37	8	133198389	133198389	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:133198389C>A	ENST00000388996.4	-	2	846	c.426G>T	c.(424-426)ctG>ctT	p.L142L	KCNQ3_ENST00000521134.1_Silent_p.L22L|KCNQ3_ENST00000519445.1_Silent_p.L142L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	142					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGAATGTGGTCAGGACAGCCA	0.483																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(424-426)ctG>ctT		potassium voltage-gated channel, KQT-like subfamily, member 3							112.0	99.0	103.0					8																	133198389		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133198389C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.426G>T	8.37:g.133198389C>A						KCNQ3_ENST00000519445.1_Silent_p.L142L|KCNQ3_ENST00000521134.1_Silent_p.L22L	p.L142L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		2	846	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		142					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.426G>T	CCDS34943.1																																																																																				0.483	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		6	31	1	0	3.59834e-05	1	4.15193e-05	6	31				
ZSCAN10	84891	broad.mit.edu	37	16	3139706	3139706	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139706G>C	ENST00000252463.2	-	5	1651	c.1564C>G	c.(1564-1566)Ccc>Gcc	p.P522A	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	522					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGCGTAGGGCTTCTCGCCC	0.716																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1564-1566)Ccc>Gcc		zinc finger and SCAN domain containing 10							11.0	12.0	11.0					16																	3139706		2188	4266	6454	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139706G>C	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1564C>G	16.37:g.3139706G>C	ENSP00000252463:p.Pro522Ala					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A	p.P522A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1651	-			522					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1564C>G	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511515	0.44660	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.28255	1.62	5.34	5.34	0.76211	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.53916	0.1826	M	0.62266	1.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.968	T	0.54675	-0.8258	10	0.62326	D	0.03	-37.2107	16.5306	0.84357	0.0:0.0:1.0:0.0	.	183;455;522	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	A	455;522	ENSP00000252463:P522A	ENSP00000252463:P522A	P	-	1	0	ZSCAN10	3079707	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	3.781000	0.55394	2.504000	0.84457	0.561000	0.74099	CCC		0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		4	11	0	0	0	1	0	4	11				
CEP70	80321	broad.mit.edu	37	3	138290122	138290122	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:138290122C>T	ENST00000264982.3	-	4	412	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	49					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GAGATCTGTTCTTTTGACTAG	0.303																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(145-147)aGa>aAa		centrosomal protein 70kDa							74.0	72.0	73.0					3																	138290122		2202	4298	6500	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138290122C>T	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.146G>A	3.37:g.138290122C>T	ENSP00000264982:p.Arg49Lys					CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K|CEP70_ENST00000489254.1_Intron	p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			4	412	-			49					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.146G>A	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	1.812	-0.474502	0.04414	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.42131	1.58;1.59;1.58;1.59;1.58;1.0;1.0;0.98	5.25	4.38	0.52667	.	0.371203	0.29225	N	0.012769	T	0.29976	0.0750	L	0.47716	1.5	0.19945	N	0.999946	B;B;B	0.16603	0.007;0.008;0.018	B;B;B	0.12156	0.005;0.007;0.007	T	0.29243	-1.0018	10	0.05833	T	0.94	-11.2185	9.4041	0.38451	0.0:0.9046:0.0:0.0954	.	29;49;49	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	K	49;29;49;31;49;28;29;49;49	ENSP00000264982:R49K;ENSP00000444128:R29K;ENSP00000419231:R49K;ENSP00000419833:R31K;ENSP00000417465:R49K;ENSP00000418131:R28K;ENSP00000417819:R29K;ENSP00000419743:R49K	ENSP00000264982:R49K	R	-	2	0	CEP70	139772812	0.730000	0.28100	0.672000	0.29872	0.555000	0.35460	1.122000	0.31295	1.432000	0.47375	0.655000	0.94253	AGA		0.303	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		6	22	0	0	0	1	0	6	22				
C2orf70	339778	broad.mit.edu	37	2	26798818	26798818	+	Silent	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:26798818C>T	ENST00000329615.3	+	2	154	c.123C>T	c.(121-123)taC>taT	p.Y41Y	C2orf70_ENST00000409392.1_Missense_Mutation_p.R29W	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	41						nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GCGCTCCCTACGGCACCACCA	0.627																																						ENST00000409392.1																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						c.(85-87)Cgg>Tgg		chromosome 2 open reading frame 70							77.0	81.0	80.0					2																	26798818		2071	4201	6272	SO:0001819	synonymous_variant	339778							g.chr2:26798818C>T		CCDS42661.1	2p23.3	2011-05-09			ENSG00000173557	ENSG00000173557			27938	protein-coding gene	gene with protein product	"""hypothetical protein LOC339778"""						Standard	NM_001105519		Approved	LOC339778	uc010eyn.3	A6NJV1	OTTHUMG00000151994	ENST00000329615.3:c.123C>T	2.37:g.26798818C>T						C2orf70_ENST00000329615.3_Silent_p.Y41Y	p.R29W			A6NJV1	CB070_HUMAN			3	187	+			147						Missense_Mutation	SNP	ENST00000329615.3	37	c.85C>T	CCDS42661.1	.	.	.	.	.	.	.	.	.	.	C	2.537	-0.307111	0.05458	.	.	ENSG00000173557	ENST00000409392	.	.	.	4.5	-7.01	0.01594	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.60409	-0.7269	5	0.87932	D	0	-15.8313	15.5338	0.75986	0.0:0.2677:0.0:0.7323	.	.	.	.	W	29	.	ENSP00000386615:R29W	R	+	1	2	C2orf70	26652322	0.000000	0.05858	0.021000	0.16686	0.174000	0.22865	-4.011000	0.00314	-1.735000	0.01353	-1.449000	0.01048	CGG		0.627	C2orf70-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353258.1	NM_001105519		16	48	0	0	0	1	0	16	48				
SSX9	280660	broad.mit.edu	37	X	48164248	48164248	+	RNA	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:48164248C>A	ENST00000608568.1	-	0	121					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						AGAACCAGCCCTAGGTCTCCT	0.562																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(34-36)aGg>aTg									260.0	228.0	239.0					X																	48164248		2203	4299	6502			0							g.chrX:48164248C>A	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48164248C>A						SSX9_ENST00000407081.2_Missense_Mutation_p.R12M	p.R12M							2	97	-									Missense_Mutation	SNP	ENST00000608568.1	37	c.35G>T		.	.	.	.	.	.	.	.	.	.	c	0.106	-1.144759	0.01714	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.10099	2.91;2.91	1.51	-3.02	0.05446	.	1.862700	0.02441	N	0.084560	T	0.06962	0.0177	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.19391	0.025	T	0.27806	-1.0063	9	0.30078	T	0.28	.	0.8092	0.01090	0.1693:0.225:0.1685:0.4372	.	12	Q7RTT3	SSX9_HUMAN	M	12	ENSP00000366107:R12M;ENSP00000385293:R12M	ENSP00000366107:R12M	R	-	2	0	SSX9	48049192	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.223000	0.00271	-2.770000	0.00365	-1.200000	0.01667	AGG		0.562	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		10	285	1	0	3.07112e-06	1	3.68534e-06	10	285				
PLEKHM2	23207	broad.mit.edu	37	1	16060354	16060354	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:16060354G>A	ENST00000375799.3	+	20	3212	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	SLC25A34_ENST00000294454.5_5'Flank|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.L975L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	995					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGATGCCTTGAGCCTCATCC	0.642																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2983-2985)ttG>ttA		pleckstrin homology domain containing, family M (with RUN domain) member 2							63.0	73.0	69.0					1																	16060354		2083	4202	6285	SO:0001819	synonymous_variant	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16060354G>A	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2985G>A	1.37:g.16060354G>A						RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Silent_p.L975L	p.L995L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	20	3212	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	995					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	c.2985G>A	CCDS44063.1																																																																																				0.642	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		39	53	0	0	0	1	0	39	53				
UPF1	5976	broad.mit.edu	37	19	18963850	18963850	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:18963850G>A	ENST00000599848.1	+	7	1236	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UPF1_ENST00000262803.5_Missense_Mutation_p.A343T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	343	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAAGAGAATCGCCTACTTCAC	0.423																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1027-1029)Gcc>Acc		UPF1 regulator of nonsense transcripts homolog (yeast)							126.0	109.0	115.0					19																	18963850		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18963850G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1027G>A	19.37:g.18963850G>A	ENSP00000470142:p.Ala343Thr					UPF1_ENST00000599848.1_Missense_Mutation_p.A343T	p.A343T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			7	1299	+			343			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1027G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.091654	0.94149	.	.	ENSG00000005007	ENST00000262803	D	0.92965	-3.14	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	M	0.88450	2.955	0.80722	D	1	D;D	0.63880	0.993;0.981	P;P	0.51079	0.658;0.653	D	0.95984	0.8980	10	0.72032	D	0.01	-33.2799	16.4487	0.83972	0.0:0.0:1.0:0.0	.	343;343	Q92900;Q92900-2	RENT1_HUMAN;.	T	343	ENSP00000262803:A343T	ENSP00000262803:A343T	A	+	1	0	UPF1	18824850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.132000	0.65825	0.536000	0.68110	GCC		0.423	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		14	93	0	0	0	1	0	14	93				
ITPR3	3710	broad.mit.edu	37	6	33625772	33625772	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:33625772G>A	ENST00000374316.5	+	5	1406	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	116	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGGGGATGTCGTGAAGTATGG	0.607																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(346-348)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							279.0	181.0	214.0					6																	33625772		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33625772G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.346G>A	6.37:g.33625772G>A	ENSP00000363435:p.Val116Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M	p.V116M			Q14573	ITPR3_HUMAN			5	1406	+			116			MIR 1.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.346G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168249	0.57476	.	.	ENSG00000096433	ENST00000374316	D	0.99051	-5.37	5.26	5.26	0.73747	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);MIR (1);	0.227166	0.36628	N	0.002495	D	0.99287	0.9751	M	0.90759	3.145	0.40256	D	0.978129	D	0.89917	1.0	D	0.70935	0.971	D	0.99201	1.0873	10	0.87932	D	0	-37.7215	12.3948	0.55378	0.0761:0.0:0.9239:0.0	.	116	Q14573	ITPR3_HUMAN	M	116	ENSP00000363435:V116M	ENSP00000363435:V116M	V	+	1	0	ITPR3	33733750	0.998000	0.40836	0.910000	0.35882	0.403000	0.30841	2.751000	0.47508	2.733000	0.93635	0.655000	0.94253	GTG		0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		6	28	0	0	0	1	0	6	28				
RYR3	6263	broad.mit.edu	37	15	33955020	33955020	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:33955020G>A	ENST00000389232.4	+	35	5359	c.5289G>A	c.(5287-5289)gaG>gaA	p.E1763E	RYR3_ENST00000415757.3_Silent_p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1763	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGGGACAGAGGAGGGAGCAG	0.572																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5287-5289)gaG>gaA		ryanodine receptor 3							149.0	162.0	158.0					15																	33955020		2070	4217	6287	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955020G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5289G>A	15.37:g.33955020G>A						RYR3_ENST00000415757.3_Silent_p.E1763E	p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5359	+		all_lung(180;7.18e-09)	1763			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5289G>A	CCDS45210.1																																																																																				0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			35	96	0	0	0	1	0	35	96				
PLCE1	51196	broad.mit.edu	37	10	96018841	96018841	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:96018841G>A	ENST00000371380.3	+	12	3983	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1250K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1250					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.E942*(1)|p.E1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTGGCTCCGAGTCAGCCCC	0.483																																						ENST00000260766.3																			2	Substitution - Nonsense(2)	p.E942*(1)|p.E1250*(1)	lung(2)	liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3748-3750)Gag>Aag		phospholipase C, epsilon 1							159.0	158.0	158.0					10																	96018841		2020	4190	6210	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018841G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3748G>A	10.37:g.96018841G>A	ENSP00000360431:p.Glu1250Lys					PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1250K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K	p.E1250K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			13	4382	+		Colorectal(252;0.0458)	1250					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3748G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655770	0.47467	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25085	1.82;1.82;1.84;1.84	5.77	4.86	0.63082	.	0.060426	0.64402	D	0.000004	T	0.27967	0.0689	L	0.36672	1.1	0.42504	D	0.992945	D;D;B	0.61080	0.981;0.989;0.237	P;P;B	0.47981	0.454;0.563;0.03	T	0.02567	-1.1140	10	0.42905	T	0.14	.	15.0802	0.72108	0.0682:0.0:0.9318:0.0	.	1234;942;1250	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	K	1250;1250;942;942	ENSP00000260766:E1250K;ENSP00000360431:E1250K;ENSP00000360438:E942K;ENSP00000360426:E942K	ENSP00000260766:E1250K	E	+	1	0	PLCE1	96008831	1.000000	0.71417	0.141000	0.22245	0.074000	0.17049	7.979000	0.88103	1.449000	0.47699	0.555000	0.69702	GAG		0.483	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		21	77	0	0	0	1	0	21	77				
TMEM43	79188	broad.mit.edu	37	3	14177320	14177320	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:14177320C>T	ENST00000306077.4	+	10	1048	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RP11-434D12.1_ENST00000608606.1_Silent_p.C10C	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	265					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ACTGTGATTGCCCGGCAGCGG	0.632																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(793-795)gCc>gTc		transmembrane protein 43							86.0	83.0	84.0					3																	14177320		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14177320C>T	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.794C>T	3.37:g.14177320C>T	ENSP00000303992:p.Ala265Val						p.A265V	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN			10	1048	+			265					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.794C>T	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676370	0.88445	.	.	ENSG00000170876	ENST00000306077	T	0.50548	0.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	M	0.75615	2.305	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.87578	0.998;0.806	T	0.72899	-0.4152	10	0.72032	D	0.01	-22.0564	19.7949	0.96477	0.0:1.0:0.0:0.0	.	195;265	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	V	265	ENSP00000303992:A265V	ENSP00000303992:A265V	A	+	2	0	TMEM43	14152321	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.849000	0.75414	2.691000	0.91804	0.591000	0.81541	GCC		0.632	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		4	82	0	0	0	1	0	4	82				
NHS	4810	broad.mit.edu	37	X	17739569	17739569	+	Silent	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:17739569C>A	ENST00000380060.3	+	4	1199	c.861C>A	c.(859-861)ccC>ccA	p.P287P	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	308					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGTCCCATCCCCCAGAGGATG	0.423																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(859-861)ccC>ccA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							110.0	91.0	98.0					X																	17739569		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17739569C>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.861C>A	X.37:g.17739569C>A						NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	p.P287P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			4	1199	+	Hepatocellular(33;0.183)		287					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.861C>A	CCDS14181.1																																																																																				0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		7	48	1	0	0.00198382	1	0.00212552	7	48				
PTPRH	5794	broad.mit.edu	37	19	55699488	55699488	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:55699488C>A	ENST00000376350.3	-	13	2455	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	811					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCTCATTCTTCCTGACGT	0.572																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2431-2433)aaG>aaT		protein tyrosine phosphatase, receptor type, H							162.0	127.0	139.0					19																	55699488		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55699488C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2433G>T	19.37:g.55699488C>A	ENSP00000365528:p.Lys811Asn					PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	p.K811N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	13	2455	-		Renal(1328;0.245)	811					C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2433G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494543	0.12702	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11712	2.75;2.75	4.15	-6.64	0.01801	.	.	.	.	.	T	0.05960	0.0155	L	0.39245	1.2	0.09310	N	1	B;P	0.44195	0.244;0.828	B;B	0.29785	0.107;0.105	T	0.12502	-1.0545	9	0.52906	T	0.07	.	8.7789	0.34778	0.1229:0.5847:0.0:0.2924	.	633;811	C9JCH2;Q9HD43	.;PTPRH_HUMAN	N	811;633	ENSP00000365528:K811N;ENSP00000263434:K633N	ENSP00000263434:K633N	K	-	3	2	PTPRH	60391300	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.240000	0.02914	-1.424000	0.01999	0.561000	0.74099	AAG		0.572	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			9	87	1	0	1.58986e-06	1	1.94677e-06	9	87				
MMEL1	79258	broad.mit.edu	37	1	2527503	2527503	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:2527503G>A	ENST00000378412.3	-	15	1606	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	MMEL1_ENST00000288709.6_Missense_Mutation_p.T473M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	482						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTCGTCCAGCGTCTCCACAAA	0.607																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1417-1419)aCg>aTg		membrane metallo-endopeptidase-like 1							246.0	206.0	220.0					1																	2527503		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2527503G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1445C>T	1.37:g.2527503G>A	ENSP00000367668:p.Thr482Met					MMEL1_ENST00000378412.3_Missense_Mutation_p.T482M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M	p.T473M	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	15	1658	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	482					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1418C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804832	0.50315	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.73575	-0.76;-0.76;-0.76	5.24	1.62	0.23740	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.196730	0.53938	N	0.000047	T	0.74966	0.3786	L	0.41824	1.3	0.46849	D	0.999229	D	0.67145	0.996	D	0.63381	0.914	T	0.70850	-0.4760	10	0.49607	T	0.09	-12.8791	7.927	0.29880	0.0762:0.0:0.5492:0.3746	.	482	Q495T6	MMEL1_HUMAN	M	325;473;482;325	ENSP00000288709:T473M;ENSP00000367668:T482M;ENSP00000422492:T325M	ENSP00000288709:T473M	T	-	2	0	MMEL1	2517363	0.986000	0.35501	0.237000	0.24090	0.729000	0.41735	1.867000	0.39499	0.077000	0.16863	0.650000	0.86243	ACG		0.607	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		5	200	0	0	0	1	0	5	200				
VIPAS39	63894	broad.mit.edu	37	14	77917578	77917578	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:77917578G>T	ENST00000553888.1	-	4	805	c.295C>A	c.(295-297)Caa>Aaa	p.Q99K	VIPAS39_ENST00000557658.1_Missense_Mutation_p.Q99K|VIPAS39_ENST00000327028.4_Missense_Mutation_p.Q99K|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.Q125K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.Q99K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	99					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											TTGGGTAGTTGTGCATAGGAG	0.473																																						ENST00000553888.1																			0											c.(295-297)Caa>Aaa		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							303.0	237.0	259.0					14																	77917578		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917578G>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.295C>A	14.37:g.77917578G>T	ENSP00000452181:p.Gln99Lys					VIPAS39_ENST00000556412.1_Missense_Mutation_p.Q125K|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000327028.4_Missense_Mutation_p.Q99K|VIPAS39_ENST00000557658.1_Missense_Mutation_p.Q99K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.Q99K	p.Q99K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	805	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.295C>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453135	0.12283	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.49	5.49	0.81192	.	0.499991	0.23446	N	0.048087	T	0.20941	0.0504	N	0.08118	0	0.27438	N	0.953797	B	0.02656	0.0	B	0.09377	0.004	T	0.08534	-1.0717	10	0.06099	T	0.92	-7.1546	13.2672	0.60141	0.0:0.2079:0.7921:0.0	.	99	Q9H9C1	VIPAR_HUMAN	K	99;99;99;99;125	ENSP00000339122:Q99K;ENSP00000452181:Q99K;ENSP00000313098:Q99K;ENSP00000452191:Q99K;ENSP00000451857:Q125K	ENSP00000313098:Q99K	Q	-	1	0	VIPAR	76987331	0.929000	0.31497	0.995000	0.50966	0.984000	0.73092	3.020000	0.49643	2.577000	0.86979	0.563000	0.77884	CAA		0.473	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	141	1	0	0.00024832	1	0.00027338	4	141				
CHP2	63928	broad.mit.edu	37	16	23768869	23768869	+	Missense_Mutation	SNP	G	G	T	rs149498782	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:23768869G>T	ENST00000300113.2	+	7	979	c.556G>T	c.(556-558)Gtt>Ttt	p.V186F		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GAAGATGGACGTTGAGCAAAA	0.522																																						ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(556-558)Gtt>Ttt		calcineurin-like EF-hand protein 2							204.0	184.0	191.0					16																	23768869		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23768869G>T		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.556G>T	16.37:g.23768869G>T	ENSP00000300113:p.Val186Phe						p.V186F	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	7	979	+			186			EF-hand 4.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.556G>T	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963634	0.34659	.	.	ENSG00000166869	ENST00000300113	T	0.30714	1.52	4.57	2.34	0.29019	.	0.259165	0.31472	N	0.007595	T	0.28366	0.0701	M	0.72118	2.19	0.40035	D	0.975586	P	0.34892	0.474	B	0.34346	0.18	T	0.04373	-1.0956	10	0.36615	T	0.2	-12.9261	6.0782	0.19927	0.6764:0.0:0.3236:0.0	.	186	O43745	CHP2_HUMAN	F	186	ENSP00000300113:V186F	ENSP00000300113:V186F	V	+	1	0	AC130454.2	23676370	0.967000	0.33354	0.946000	0.38457	0.707000	0.40811	-0.004000	0.12878	0.376000	0.24707	-0.302000	0.09304	GTT		0.522	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		33	163	1	0	9.8876e-21	1	1.28969e-20	33	163				
CD163L1	283316	broad.mit.edu	37	12	7521536	7521536	+	Silent	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:7521536G>T	ENST00000313599.3	-	16	4122	c.4065C>A	c.(4063-4065)gcC>gcA	p.A1355A	CD163L1_ENST00000416109.2_Silent_p.A1365A|CD163L1_ENST00000396630.1_Silent_p.A1355A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1355						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACCTGAGGAGGCATTCAGTG	0.443																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4063-4065)gcC>gcA		CD163 molecule-like 1							147.0	134.0	138.0					12																	7521536		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7521536G>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4065C>A	12.37:g.7521536G>T						CD163L1_ENST00000396630.1_Silent_p.A1355A|CD163L1_ENST00000416109.2_Silent_p.A1365A	p.A1355A			Q9NR16	C163B_HUMAN			16	4122	-			1355					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.4065C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	3.397	-0.123106	0.06795	.	.	ENSG00000177675	ENST00000539726	.	.	.	0.421	0.421	0.16451	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.20926	N	0.999824	.	.	.	.	.	.	T	0.28073	-1.0055	3	.	.	.	.	.	.	.	.	.	.	.	I	11	.	.	L	-	1	0	CD163L1	7412803	0.063000	0.20901	0.034000	0.17996	0.122000	0.20287	1.407000	0.34657	0.452000	0.26830	0.455000	0.32223	CTC		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		5	169	1	0	0.217242	1	0.219068	5	169				
ASB12	142689	broad.mit.edu	37	X	63444340	63444340	+	Missense_Mutation	SNP	G	G	A	rs148589525	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:63444340G>A	ENST00000396130.2	-	2	804	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R653W|ASB12_ENST00000362002.2_Missense_Mutation_p.R278W			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	269	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AGAAGTGACCGTGGAGTGGCT	0.522													G|||	1	0.000264901	0.0	0.0	3775	,	,		12976	0.001		0.0	False		,,,				2504	0.0					ENST00000453546.1																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1957-1959)Cgg>Tgg		myotubularin related protein 8		G	TRP/ARG	1,3834		0,0,1,1632,570	69.0	63.0	65.0		832	2.7	1.0	X	dbSNP_134	65	3,6725		0,2,1,2426,1871	yes	missense	ASB12	NM_130388.3	101	0,2,2,4058,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379		278/319	63444340	4,10559	2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444340G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.805C>T	X.37:g.63444340G>A	ENSP00000379435:p.Arg269Trp					ASB12_ENST00000362002.2_Missense_Mutation_p.R278W|ASB12_ENST00000396130.2_Missense_Mutation_p.R269W	p.R653W			Q96EF0	MTMR8_HUMAN			11	2046	-			0					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1957C>T		.	.	.	.	.	.	.	.	.	.	G	13.38	2.219930	0.39201	2.61E-4	4.46E-4	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.52754	0.65;0.65;0.65	3.64	2.73	0.32206	SOCS protein, C-terminal (2);	0.275577	0.39544	N	0.001336	T	0.49474	0.1559	L	0.56769	1.78	0.22017	N	0.999419	D;D	0.53312	0.959;0.959	P;P	0.50537	0.643;0.544	T	0.41520	-0.9504	10	0.62326	D	0.03	-4.9128	8.5297	0.33326	0.0:0.0:0.4364:0.5636	.	653;269	B4DQL0;Q8WXK4	.;ASB12_HUMAN	W	278;269;246;653	ENSP00000355195:R278W;ENSP00000379435:R269W;ENSP00000394003:R653W	ENSP00000354626:R246W	R	-	1	2	ASB12;MTMR8	63361065	1.000000	0.71417	0.998000	0.56505	0.374000	0.29953	4.059000	0.57470	0.846000	0.35142	0.468000	0.43344	CGG		0.522	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				18	23	0	0	0	1	0	18	23				
EDRF1	26098	broad.mit.edu	37	10	127434378	127434378	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:127434378A>G	ENST00000356792.4	+	19	2925	c.2693A>G	c.(2692-2694)aAt>aGt	p.N898S	RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.N864S|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		898					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGCCACCAATGCCGCCCTT	0.453																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2590-2592)aAt>aGt		chromosome 10 open reading frame 137							109.0	107.0	108.0					10																	127434378		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127434378A>G																												ENST00000356792.4:c.2693A>G	10.37:g.127434378A>G	ENSP00000349244:p.Asn898Ser					RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.N898S|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA	p.N864S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			18	2696	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	898					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2591A>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881627	0.72294	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.75367	-0.93;-0.93	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.994;0.998;0.987	D	0.87157	0.2212	10	0.87932	D	0	.	15.8023	0.78463	1.0:0.0:0.0:0.0	.	898;245;864	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	S	898;864	ENSP00000349244:N898S;ENSP00000336727:N864S	ENSP00000336727:N864S	N	+	2	0	C10orf137	127424368	1.000000	0.71417	0.956000	0.39512	0.463000	0.32649	8.962000	0.93254	2.137000	0.66172	0.533000	0.62120	AAT		0.453	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			9	54	0	0	0	1	0	9	54				
ADAM9	8754	broad.mit.edu	37	8	38934858	38934858	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:38934858G>A	ENST00000487273.2	+	16	1887	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	603	Cys-rich.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTTGGGGTGTGGATTTCCAGC	0.413																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1807-1809)gtG>gtA		ADAM metallopeptidase domain 9							105.0	98.0	100.0					8																	38934858		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38934858G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.1809G>A	8.37:g.38934858G>A						ADAM9_ENST00000484143.1_3'UTR	p.V603V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		16	1887	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	603			Cys-rich.		B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.1809G>A	CCDS6112.1																																																																																				0.413	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			16	53	0	0	0	1	0	16	53				
CAMSAP1	157922	broad.mit.edu	37	9	138710933	138710933	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:138710933C>G	ENST00000389532.4	-	12	3946	c.3882G>C	c.(3880-3882)caG>caC	p.Q1294H	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1294					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTGCGCTGCTGCTTCAGGA	0.647																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3880-3882)caG>caC		calmodulin regulated spectrin-associated protein 1							23.0	21.0	22.0					9																	138710933		2201	4297	6498	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138710933C>G	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3882G>C	9.37:g.138710933C>G	ENSP00000374183:p.Gln1294His					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H|CAMSAP1_ENST00000483991.1_5'UTR	p.Q1294H	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	12	3946	-			1294					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3882G>C	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405895	0.83230	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.18960	2.2;2.18;2.2	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.991	T	0.62525	-0.6836	10	0.87932	D	0	-2.7359	17.5811	0.87968	0.0:1.0:0.0:0.0	.	1294;1305	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	H	1294;1016;1305	ENSP00000374183:Q1294H;ENSP00000312463:Q1016H;ENSP00000386420:Q1305H	ENSP00000312463:Q1016H	Q	-	3	2	CAMSAP1	137850754	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.160000	0.31761	2.204000	0.70986	0.561000	0.74099	CAG		0.647	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		7	16	0	0	0	1	0	7	16				
ZBTB24	9841	broad.mit.edu	37	6	109787072	109787072	+	Silent	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:109787072A>T	ENST00000230122.3	-	7	2243	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	692					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCTCCTGGCCAAGTGGCGTTG	0.537																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(2074-2076)ctT>ctA		zinc finger and BTB domain containing 24							108.0	106.0	107.0					6																	109787072		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787072A>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.2076T>A	6.37:g.109787072A>T						MICAL1_ENST00000368952.4_5'UTR	p.L692L	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2243	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	692					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.2076T>A	CCDS34509.1																																																																																				0.537	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		35	38	0	0	0	1	0	35	38				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	118	0	0	0	1	0	4	118				
ZNF254	9534	broad.mit.edu	37	19	24270074	24270074	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:24270074G>A	ENST00000357002.4	+	0	80				ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_De_novo_Start_OutOfFrame	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTCTGTGGCGCTGTTACCAG	0.592																																						ENST00000357002.4																			0													zinc finger protein 254							51.0	49.0	50.0					19																	24270074		2203	4300	6503			9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24270074G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.-36G>A	19.37:g.24270074G>A						ZNF254_ENST00000339642.6_De_novo_Start_OutOfFrame|ZNF254_ENST00000342944.6_Intron		NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			0	80	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)						A4QPC0|Q86XL7	Translation_Start_Site	SNP	ENST00000357002.4	37		CCDS32983.1																																																																																				0.592	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		19	55	0	0	0	1	0	19	55				
NBEAL1	65065	broad.mit.edu	37	2	204013825	204013825	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:204013825G>C	ENST00000449802.1	+	33	5662	c.5329G>C	c.(5329-5331)Gca>Cca	p.A1777P		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1777										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACGCTGGAAAGCAATACAGCT	0.388																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5329-5331)Gca>Cca		neurobeachin-like 1							77.0	71.0	73.0					2																	204013825		1845	4081	5926	SO:0001583	missense	65065						binding	g.chr2:204013825G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5329G>C	2.37:g.204013825G>C	ENSP00000399903:p.Ala1777Pro						p.A1777P	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			33	5662	+			1777					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5329G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486161	0.84854	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.56444	0.46	5.96	3.11	0.35812	.	0.163209	0.53938	D	0.000054	T	0.47637	0.1456	M	0.70275	2.135	0.58432	D	0.999998	P;P	0.45396	0.857;0.857	B;B	0.39706	0.307;0.307	T	0.44892	-0.9298	10	0.39692	T	0.17	.	8.4227	0.32710	0.1342:0.0:0.739:0.1267	.	1777;1766	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	P	1777	ENSP00000399903:A1777P	ENSP00000344985:A1777P	A	+	1	0	NBEAL1	203722070	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	3.762000	0.55250	0.855000	0.35359	0.655000	0.94253	GCA		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			7	29	0	0	0	1	0	7	29				
STAT5B	6777	broad.mit.edu	37	17	40369407	40369407	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:40369407G>A	ENST00000293328.3	-	10	1413	c.1245C>T	c.(1243-1245)caC>caT	p.H415H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	415					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TATTCCTGAAGTGGGCACTAA	0.458																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1243-1245)caC>caT		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						108.0	101.0	104.0					17																	40369407		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40369407G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1245C>T	17.37:g.40369407G>A							p.H415H	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	10	1413	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	415					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.1245C>T	CCDS11423.1																																																																																				0.458	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		14	56	0	0	0	1	0	14	56				
ANKRD30A	91074	broad.mit.edu	37	10	37508105	37508105	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508105A>T	ENST00000602533.1	+	34	3396	c.3297A>T	c.(3295-3297)gaA>gaT	p.E1099D	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1218D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1155					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGAGGAATCATTAACTA	0.338																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3652-3654)gaA>gaT		ankyrin repeat domain 30A							135.0	135.0	135.0					10																	37508105		1824	4071	5895	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508105A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3297A>T	10.37:g.37508105A>T	ENSP00000473551:p.Glu1099Asp					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1099D	p.E1218D			Q9BXX3	AN30A_HUMAN			40	3753	+			1170					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3654A>T		.	.	.	.	.	.	.	.	.	.	a	5.104	0.204849	0.09704	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06768	3.26;3.26	2.81	1.59	0.23543	.	.	.	.	.	T	0.08802	0.0218	L	0.59967	1.855	0.09310	N	0.999998	P	0.41232	0.743	B	0.38056	0.264	T	0.22941	-1.0202	9	0.46703	T	0.11	.	6.1403	0.20257	0.8588:0.0:0.1412:0.0	.	1155	Q9BXX3	AN30A_HUMAN	D	1099;1218	ENSP00000354432:E1099D;ENSP00000363792:E1218D	ENSP00000354432:E1099D	E	+	3	2	ANKRD30A	37548111	0.996000	0.38824	0.013000	0.15412	0.004000	0.04260	1.963000	0.40452	1.151000	0.42436	0.381000	0.24937	GAA		0.338	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		34	173	0	0	0	1	0	34	173				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	35	0	0	0	1	0	10	35				
A2M	2	broad.mit.edu	37	12	9243855	9243855	+	Missense_Mutation	SNP	C	C	G	rs117138141		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:9243855C>G	ENST00000318602.7	-	19	2718	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	804					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGCCTCTCCACGAATCACAGA	0.493																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2410-2412)cGt>cCt		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						117.0	118.0	118.0					12																	9243855		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9243855C>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2411G>C	12.37:g.9243855C>G	ENSP00000323929:p.Arg804Pro						p.R804P	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			19	2718	-			804					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2411G>C	CCDS44827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.995289|3.995289	0.74703|0.74703	.|.	.|.	ENSG00000175899|ENSG00000175899	ENST00000318602;ENST00000540099|ENST00000543436	T|.	0.30981|.	1.51|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Alpha-2-macroglobulin (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.87212|0.87212	0.6121|0.6121	H|H	0.96604|0.96604	3.85|3.85	0.49051|0.49051	D|D	0.999745|0.999745	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90821|0.90821	0.4709|0.4709	10|5	0.87932|.	D|.	0|.	.|.	13.2561|13.2561	0.60079|0.60079	0.0:0.9211:0.0:0.0789|0.0:0.9211:0.0:0.0789	.|.	804|.	P01023|.	A2MG_HUMAN|.	P|L	804;819|52	ENSP00000323929:R804P|.	ENSP00000323929:R804P|.	R|V	-|-	2|1	0|0	A2M|A2M	9135122|9135122	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.657000|0.657000	0.38888|0.38888	7.818000|7.818000	0.86416|0.86416	2.464000|2.464000	0.83262|0.83262	0.557000|0.557000	0.71058|0.71058	CGT|GTG		0.493	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		97	159	0	0	0	1	0	97	159				
FAM57A	79850	broad.mit.edu	37	17	641276	641276	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:641276C>T	ENST00000308278.8	+	3	633	c.397C>T	c.(397-399)Cca>Tca	p.P133S	FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	133	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTCCTTGTGCCAGTCGCACA	0.517																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(397-399)Cca>Tca		family with sequence similarity 57, member A							94.0	80.0	85.0					17																	641276		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641276C>T	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.397C>T	17.37:g.641276C>T	ENSP00000312017:p.Pro133Ser					FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	p.P133S	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	633	+			133			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.397C>T	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.343742	0.82022	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D	0.84442	-1.85	5.67	5.67	0.87782	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93595	0.7955	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94078	0.7341	10	0.72032	D	0.01	-13.3232	18.8271	0.92123	0.0:1.0:0.0:0.0	.	133;133	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	S	133;133;206	ENSP00000312017:P133S	ENSP00000301324:P133S	P	+	1	0	FAM57A	588026	1.000000	0.71417	0.966000	0.40874	0.537000	0.34900	6.952000	0.75989	2.694000	0.91930	0.638000	0.83543	CCA		0.517	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		4	79	0	0	0	1	0	4	79				
PRAMEF12	390999	broad.mit.edu	37	1	12837337	12837337	+	Silent	SNP	C	C	A	rs371643266		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:12837337C>A	ENST00000357726.4	+	3	1074	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	349					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGGCCACCCTGCAGACCC	0.597																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1045-1047)acC>acA		PRAME family member 12		C		1,4405		0,1,2202	87.0	89.0	88.0		1047	1.9	0.4	1		88	1,8599		0,1,4299	no	coding-synonymous	PRAMEF12	NM_001080830.1		0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154		349/484	12837337	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837337C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1047C>A	1.37:g.12837337C>A							p.T349T	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1074	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	349						Silent	SNP	ENST00000357726.4	37	c.1047C>A	CCDS41254.1																																																																																				0.597	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		10	89	1	0	0.0581538	1	0.0606822	10	89				
GPR37L1	9283	broad.mit.edu	37	1	202097469	202097469	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:202097469A>G	ENST00000367282.5	+	2	1337	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	411					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CAAGGGCGCCATCACCCCAGT	0.647																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1231-1233)Atc>Gtc		G protein-coupled receptor 37 like 1							104.0	95.0	98.0					1																	202097469		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097469A>G	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1231A>G	1.37:g.202097469A>G	ENSP00000356251:p.Ile411Val						p.I411V	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1337	+			411					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.1231A>G	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	A	0.405	-0.916146	0.02415	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.37411	1.2	5.12	-5.63	0.02474	GPCR, rhodopsin-like superfamily (1);	0.842357	0.10784	N	0.634580	T	0.08313	0.0207	N	0.00760	-1.21	0.25589	N	0.986712	B	0.02656	0.0	B	0.04013	0.001	T	0.38628	-0.9652	10	0.02654	T	1	-16.1536	10.0964	0.42478	0.2281:0.1041:0.6678:0.0	.	411	O60883	ETBR2_HUMAN	V	278;411	ENSP00000356251:I411V	ENSP00000356251:I411V	I	+	1	0	GPR37L1	200364092	0.493000	0.26035	0.076000	0.20297	0.770000	0.43624	0.932000	0.28884	-1.062000	0.03181	-0.441000	0.05720	ATC		0.647	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		31	41	0	0	0	1	0	31	41				
IL7R	3575	broad.mit.edu	37	5	35871310	35871310	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:35871310T>C	ENST00000303115.3	+	4	661	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	178	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAAAACAAATGGACGGTATG	0.358			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(532-534)Tgg>Cgg		interleukin 7 receptor							65.0	65.0	65.0					5																	35871310		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35871310T>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.532T>C	5.37:g.35871310T>C	ENSP00000306157:p.Trp178Arg					IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		4	661	+	all_lung(31;0.00015)		178			Fibronectin type-III.		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.532T>C	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270558	0.59540	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850	T;T;T	0.58652	0.32;0.32;0.32	5.41	5.41	0.78517	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.281455	0.36893	N	0.002348	T	0.72350	0.3449	M	0.68952	2.095	0.51012	D	0.999908	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.73824	-0.3861	10	0.51188	T	0.08	-5.5901	11.8361	0.52325	0.0:0.0:0.0:1.0	.	178;178	D6RGV2;P16871	.;IL7RA_HUMAN	R	178	ENSP00000306157:W178R;ENSP00000345819:W178R;ENSP00000421207:W178R	ENSP00000306157:W178R	W	+	1	0	IL7R	35907067	0.979000	0.34478	0.832000	0.32986	0.753000	0.42808	2.536000	0.45693	2.052000	0.61016	0.533000	0.62120	TGG		0.358	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			8	9	0	0	0	1	0	8	9				
SS18L1	26039	broad.mit.edu	37	20	60736516	60736516	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr20:60736516G>A	ENST00000331758.3	+	4	282	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	86	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CATGAACCTGGGCCCTGGAGC	0.627			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(256-258)Ggc>Agc		synovial sarcoma translocation gene on chromosome 18-like 1							29.0	35.0	33.0					20																	60736516		2202	4300	6502	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60736516G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.256G>A	20.37:g.60736516G>A	ENSP00000333012:p.Gly86Ser					SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S|SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S	p.G86S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		4	282	+	Breast(26;3.97e-09)		86			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.256G>A	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366452	0.82463	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000450482;ENST00000370848	T;T;T	0.35973	1.46;1.46;1.28	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.66939	2.045	0.49915	D	0.999833	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.65315	-0.6198	10	0.87932	D	0	-19.4081	16.679	0.85287	0.0:0.0:1.0:0.0	.	86;86	B4DSR7;O75177	.;CREST_HUMAN	S	86;86;89;89	ENSP00000393999:G86S;ENSP00000333012:G86S;ENSP00000359885:G89S	ENSP00000333012:G86S	G	+	1	0	SS18L1	60169911	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.358000	0.79466	1.934000	0.56057	0.195000	0.17529	GGC		0.627	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			18	63	0	0	0	1	0	18	63				
CYP4Z2P	163720	broad.mit.edu	37	1	47325287	47325287	+	RNA	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:47325287T>C	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AATCCAAACATAGCTGCATTG	0.388																																						ENST00000505841.1																			0																																																			0							g.chr1:47325287T>C	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325287T>C								NR_002788.2						0	1204	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.388	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		3	26	0	0	0	1	0	3	26				
CDX4	1046	broad.mit.edu	37	X	72667535	72667535	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:72667535C>A	ENST00000373514.2	+	1	446	c.446C>A	c.(445-447)cCc>cAc	p.P149H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	149					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCAGTTCCCCCAGCAGGAGC	0.647																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(445-447)cCc>cAc		caudal type homeobox 4							25.0	24.0	24.0					X																	72667535		2131	4162	6293	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667535C>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.446C>A	X.37:g.72667535C>A	ENSP00000362613:p.Pro149His						p.P149H	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	446	+	Renal(35;0.156)		149					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.446C>A	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	17.56	3.419575	0.62622	.	.	ENSG00000131264	ENST00000373514	T	0.57907	0.37	2.11	2.11	0.27256	Caudal-like activation domain (1);	0.069192	0.64402	D	0.000014	T	0.68192	0.2974	M	0.80183	2.485	0.54753	D	0.999985	D	0.89917	1.0	D	0.67231	0.95	T	0.72074	-0.4400	10	0.87932	D	0	-0.4489	9.6072	0.39641	0.0:1.0:0.0:0.0	.	149	O14627	CDX4_HUMAN	H	149	ENSP00000362613:P149H	ENSP00000362613:P149H	P	+	2	0	CDX4	72584260	1.000000	0.71417	0.993000	0.49108	0.922000	0.55478	5.283000	0.65621	1.352000	0.45808	0.432000	0.28606	CCC		0.647	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		7	47	1	0	0.00198382	1	0.00212552	7	47				
CALR3	125972	broad.mit.edu	37	19	16594777	16594777	+	Silent	SNP	C	C	T	rs200669493		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:16594777C>T	ENST00000269881.3	-	5	704	c.642G>A	c.(640-642)tcG>tcA	p.S214S	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	214	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCCAATCCTTCGATTCTGCCG	0.423																																						ENST00000269881.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						c.(640-642)tcG>tcA		calreticulin 3							116.0	103.0	107.0					19																	16594777		2203	4300	6503	SO:0001819	synonymous_variant	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16594777C>T	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.642G>A	19.37:g.16594777C>T						CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	p.S214S	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN			5	704	-			214			4 X approximate repeats.|P-domain.		D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	c.642G>A	CCDS12344.1																																																																																				0.423	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046		7	31	0	0	0	1	0	7	31				
FGF6	2251	broad.mit.edu	37	12	4543495	4543495	+	Silent	SNP	G	G	A	rs542608820		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:4543495G>A	ENST00000228837.2	-	3	556	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	171					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTCTGACTCGTAGGCATTGT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		22865	0.0		0.0	False		,,,				2504	0.001					ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(511-513)taC>taT		fibroblast growth factor 6							231.0	208.0	216.0					12																	4543495		2203	4300	6503	SO:0001819	synonymous_variant	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4543495G>A	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.513C>T	12.37:g.4543495G>A							p.Y171Y	NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		3	556	-			171					Q0VAE1	Silent	SNP	ENST00000228837.2	37	c.513C>T	CCDS8527.1																																																																																				0.517	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		34	407	0	0	0	1	0	34	407				
OR4A5	81318	broad.mit.edu	37	11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A	rs192882980	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453																																						ENST00000319760.6																			1	Substitution - Missense(1)	p.C95S(1)	stomach(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(283-285)tGc>tTc		olfactory receptor, family 4, subfamily A, member 5							65.0	67.0	66.0					11																	51412112		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412112C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.284G>T	11.37:g.51412112C>A	ENSP00000367664:p.Cys95Phe						p.C95F	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	336	-		all_lung(304;0.236)	95					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.284G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	9.163	1.019311	0.19355	.	.	ENSG00000221840	ENST00000319760	T	0.00547	6.66	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.02083	0.0065	H	0.99117	4.435	0.42167	D	0.991622	P	0.41450	0.75	B	0.43360	0.417	T	0.02893	-1.1097	10	0.87932	D	0	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	95	Q8NH83	OR4A5_HUMAN	F	95	ENSP00000367664:C95F	ENSP00000367664:C95F	C	-	2	0	OR4A5	51268688	1.000000	0.71417	0.029000	0.17559	0.021000	0.10359	4.827000	0.62723	1.394000	0.46624	0.162000	0.16502	TGC		0.453	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		12	56	1	0	9.31168e-06	1	1.10634e-05	12	56				
DNAJA2	10294	broad.mit.edu	37	16	47001550	47001550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:47001550C>T	ENST00000317089.5	-	5	667	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	151					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TCCAGACTTTCCGCCTTGGCT	0.463																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(451-453)gGa>gAa		DnaJ (Hsp40) homolog, subfamily A, member 2							206.0	164.0	178.0					16																	47001550		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:47001550C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.452G>A	16.37:g.47001550C>T	ENSP00000314030:p.Gly151Glu						p.G151E	NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN			5	667	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	151					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.452G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907643	0.92107	.	.	ENSG00000069345	ENST00000317089	T	0.39056	1.1	5.7	5.7	0.88788	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79478	-0.1787	10	0.87932	D	0	-25.4967	19.4312	0.94768	0.0:1.0:0.0:0.0	.	151	O60884	DNJA2_HUMAN	E	151	ENSP00000314030:G151E	ENSP00000314030:G151E	G	-	2	0	DNAJA2	45559051	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	7.523000	0.81856	2.684000	0.91462	0.585000	0.79938	GGA		0.463	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			32	113	0	0	0	1	0	32	113				
DDX41	51428	broad.mit.edu	37	5	176938907	176938907	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:176938907C>T	ENST00000507955.1	-	17	2277	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	DOK3_ENST00000357198.4_5'Flank|DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	585					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CAGGCCCCCGCAGAAGGCACA	0.642																																						ENST00000507955.1																			0											c.(1753-1755)tGc>tAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							58.0	59.0	58.0					5																	176938907		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176938907C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1754G>A	5.37:g.176938907C>T	ENSP00000422753:p.Cys585Tyr						p.C585Y	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		17	2277	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	585					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1754G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006034	0.93287	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.97186	-4.28;-4.28	5.89	5.89	0.94794	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.72032	D	0.01	-33.5677	20.2285	0.98347	0.0:1.0:0.0:0.0	.	585	Q9UJV9	DDX41_HUMAN	Y	603;585	ENSP00000330349:C603Y;ENSP00000422753:C585Y	ENSP00000330349:C603Y	C	-	2	0	DDX41	176871513	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.306000	0.78905	2.784000	0.95788	0.655000	0.94253	TGC		0.642	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		13	29	0	0	0	1	0	13	29				
MUC2	4583	broad.mit.edu	37	11	1081657	1081657	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:1081657G>A	ENST00000441003.2	+	13	1612	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	529	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCCTCTGCGGGAACTTCAA	0.667																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1585-1587)Ggg>Agg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						19.0	22.0	21.0					11																	1081657		1867	4091	5958	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1081657G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1585G>A	11.37:g.1081657G>A	ENSP00000415183:p.Gly529Arg					MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1612	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	529			VWFD 2.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1585G>A		.	.	.	.	.	.	.	.	.	.	G	9.506	1.104606	0.20632	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	D;D	0.90563	-2.69;-2.69	3.16	2.23	0.28157	.	0.000000	0.64402	U	0.000014	D	0.96454	0.8843	H	0.96833	3.89	0.40487	D	0.980509	D	0.89917	1.0	D	0.97110	1.0	D	0.96349	0.9257	10	0.87932	D	0	.	11.4267	0.50015	0.0:0.0:0.8182:0.1818	.	529	E7EUV1	.	R	529	ENSP00000415183:G529R;ENSP00000351956:G529R	ENSP00000351956:G529R	G	+	1	0	MUC2	1071657	1.000000	0.71417	0.141000	0.22245	0.001000	0.01503	7.682000	0.84083	0.529000	0.28599	-0.310000	0.09108	GGG		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	18	0	0	0	1	0	3	18				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	26	0	0	0	1	0	5	26				
SETD2	29072	broad.mit.edu	37	3	47143009	47143009	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:47143009T>G	ENST00000409792.3	-	8	4996	c.4954A>C	c.(4954-4956)Acc>Ccc	p.T1652P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1652	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCA	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4954-4956)Acc>Ccc		SET domain containing 2							158.0	157.0	157.0					3																	47143009		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47143009T>G	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4954A>C	3.37:g.47143009T>G	ENSP00000386759:p.Thr1652Pro						p.T1652P	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	8	4996	-		Acute lymphoblastic leukemia(5;0.0169)	1652			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4954A>C	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	28.7	4.943959	0.92593	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.81415	-1.49	5.94	5.94	0.96194	SET domain (3);	0.000000	0.56097	D	0.000036	D	0.90758	0.7099	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92082	0.5673	10	0.87932	D	0	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	1652;1652	F2Z317;Q9BYW2	.;SETD2_HUMAN	P	1652	ENSP00000386759:T1652P	ENSP00000386759:T1652P	T	-	1	0	SETD2	47118013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.955000	0.87856	2.275000	0.75901	0.528000	0.53228	ACC		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		42	142	0	0	0	1	0	42	142				
SMYD4	114826	broad.mit.edu	37	17	1715303	1715303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:1715303C>A	ENST00000305513.7	-	3	408	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	81							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TAATCTTTCTCCTGAAATTTT	0.393																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(241-243)Gag>Tag		SET and MYND domain containing 4							128.0	138.0	135.0					17																	1715303		2203	4300	6503	SO:0001587	stop_gained	114826						zinc ion binding	g.chr17:1715303C>A	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.241G>T	17.37:g.1715303C>A	ENSP00000304360:p.Glu81*						p.E81*	NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN			3	408	-			81					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Nonsense_Mutation	SNP	ENST00000305513.7	37	c.241G>T	CCDS11013.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346065	0.61073	.	.	ENSG00000186532	ENST00000305513	.	.	.	5.78	-1.65	0.08291	.	0.775970	0.13033	N	0.419103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-2.4945	5.1452	0.14981	0.0:0.3243:0.2647:0.4109	.	.	.	.	X	81	.	ENSP00000304360:E81X	E	-	1	0	SMYD4	1662053	0.008000	0.16893	0.536000	0.28039	0.974000	0.67602	-0.294000	0.08309	-0.104000	0.12154	0.650000	0.86243	GAG		0.393	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		28	132	1	0	3.73808e-20	1	4.82333e-20	28	132				
YTHDC2	64848	broad.mit.edu	37	5	112868625	112868625	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112868625G>A	ENST00000161863.4	+	5	938	c.725G>A	c.(724-726)cGt>cAt	p.R242H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	242	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATCCCCTGCCGTATATTTTGT	0.388																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(724-726)cGt>cAt		YTH domain containing 2							106.0	114.0	111.0					5																	112868625		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112868625G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.725G>A	5.37:g.112868625G>A	ENSP00000161863:p.Arg242His					YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	5	938	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	242			Helicase ATP-binding.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.725G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647976	0.87958	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.16897	2.31;2.31	5.63	5.63	0.86233	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.108357	0.64402	D	0.000009	T	0.43700	0.1259	M	0.83312	2.635	0.80722	D	1	D	0.65815	0.995	P	0.59424	0.857	T	0.43475	-0.9389	10	0.72032	D	0.01	.	17.8584	0.88773	0.0:0.0:1.0:0.0	.	242	Q9H6S0	YTDC2_HUMAN	H	242;242;152	ENSP00000161863:R242H;ENSP00000423101:R242H	ENSP00000161863:R242H	R	+	2	0	YTHDC2	112896524	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.774000	0.98992	2.656000	0.90262	0.460000	0.39030	CGT		0.388	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		5	43	0	0	0	1	0	5	43				
KRT36	8689	broad.mit.edu	37	17	39643881	39643881	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39643881C>T	ENST00000328119.6	-	4	807	c.808G>A	c.(808-810)Gag>Aag	p.E270K	KRT36_ENST00000393986.2_Missense_Mutation_p.E220K	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	270	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(658-660)Gag>Aag		keratin 36							125.0	112.0	117.0					17																	39643881		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643881C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.808G>A	17.37:g.39643881C>T	ENSP00000329165:p.Glu270Lys					KRT36_ENST00000328119.6_Missense_Mutation_p.E270K	p.E220K			O76013	KRT36_HUMAN			5	870	-		Breast(137;0.000286)	270			Coil 1B.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.658G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921692	0.92319	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.93076	-3.16;-3.16	5.69	5.69	0.88448	Filament (1);	0.000000	0.51477	D	0.000097	D	0.98226	0.9413	H	0.98996	4.395	0.58432	D	0.999992	D	0.69078	0.997	D	0.63793	0.918	D	0.99320	1.0906	10	0.87932	D	0	.	19.8057	0.96531	0.0:1.0:0.0:0.0	.	270	O76013	KRT36_HUMAN	K	220;270	ENSP00000377555:E220K;ENSP00000329165:E270K	ENSP00000329165:E270K	E	-	1	0	KRT36	36897407	1.000000	0.71417	0.873000	0.34254	0.401000	0.30781	7.611000	0.82962	2.682000	0.91365	0.655000	0.94253	GAG		0.602	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		34	105	0	0	0	1	0	34	105				
DSG3	1830	broad.mit.edu	37	18	29054364	29054364	+	Silent	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:29054364T>C	ENST00000257189.4	+	15	2465	c.2382T>C	c.(2380-2382)tcT>tcC	p.S794S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S794S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTACTTTTCTCAGGTAATTT	0.368																																						ENST00000257189.4																			1	Substitution - coding silent(1)	p.S794S(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2380-2382)tcT>tcC		desmoglein 3							125.0	132.0	129.0					18																	29054364		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054364T>C	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2382T>C	18.37:g.29054364T>C							p.S794S	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2465	+			794					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2382T>C	CCDS11898.1																																																																																				0.368	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		51	46	0	0	0	1	0	51	46				
PKHD1L1	93035	broad.mit.edu	37	8	110498956	110498956	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110498956A>T	ENST00000378402.5	+	59	9890	c.9786A>T	c.(9784-9786)aaA>aaT	p.K3262N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3262					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACATCAAAATAGTTGGTG	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9784-9786)aaA>aaT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							209.0	209.0	209.0					8																	110498956		1951	4128	6079	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110498956A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9786A>T	8.37:g.110498956A>T	ENSP00000367655:p.Lys3262Asn	HNSCC(38;0.096)					p.K3262N	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9890	+			3262					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9786A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489415	0.64074	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80123	-1.34;-1.34	5.42	5.42	0.78866	Pectin lyase fold/virulence factor (1);	0.120805	0.53938	D	0.000049	D	0.86426	0.5930	M	0.80183	2.485	0.26229	N	0.979049	D	0.63046	0.992	P	0.59487	0.858	T	0.80527	-0.1343	10	0.46703	T	0.11	.	8.2996	0.32006	0.9115:0.0:0.0885:0.0	.	3262	Q86WI1	PKHL1_HUMAN	N	3262;190	ENSP00000367655:K3262N;ENSP00000437376:K190N	ENSP00000367655:K3262N	K	+	3	2	PKHD1L1	110568132	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.381000	0.59587	2.184000	0.69523	0.460000	0.39030	AAA		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		14	153	0	0	0	1	0	14	153				
RTN3	10313	broad.mit.edu	37	11	63487398	63487398	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:63487398A>G	ENST00000377819.5	+	3	1578	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	475					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTACCTGATGACCACCTGAAA	0.458																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1423-1425)gAc>gGc		reticulon 3							86.0	85.0	85.0					11																	63487398		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487398A>G	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1424A>G	11.37:g.63487398A>G	ENSP00000367050:p.Asp475Gly					RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000356000.3_Intron	p.D475G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1578	+			475					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1424A>G	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	A	3.016	-0.202805	0.06219	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.17370	2.28;2.28;2.28	5.5	-0.627	0.11541	.	1.244420	0.05517	N	0.561410	T	0.08935	0.0221	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.14578	0.011;0.005;0.011	T	0.30416	-0.9979	10	0.17832	T	0.49	-0.0117	8.9023	0.35501	0.6649:0.0:0.3351:0.0	.	363;475;456	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	G	475;456;363	ENSP00000367050:D475G;ENSP00000344106:D456G;ENSP00000442733:D363G	ENSP00000344106:D456G	D	+	2	0	RTN3	63243974	0.007000	0.16637	0.227000	0.23927	0.554000	0.35429	-0.119000	0.10676	-0.352000	0.08237	-0.256000	0.11100	GAC		0.458	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		22	43	0	0	0	1	0	22	43				
TCF20	6942	broad.mit.edu	37	22	42608734	42608734	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:42608734G>A	ENST00000359486.3	-	1	2714	c.2578C>T	c.(2578-2580)Ctc>Ttc	p.L860F	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	860					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTCAGAGAGGGAACCCCCA	0.478																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2578-2580)Ctc>Ttc		transcription factor 20 (AR1)							97.0	99.0	98.0					22																	42608734		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608734G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2578C>T	22.37:g.42608734G>A	ENSP00000352463:p.Leu860Phe					TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2714	-			860					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2578C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118067	0.56505	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61627	0.1;0.09	5.26	5.26	0.73747	.	0.094659	0.46442	D	0.000290	T	0.62588	0.2440	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.64776	0.929;0.852	T	0.62483	-0.6845	10	0.38643	T	0.18	-12.7877	19.0588	0.93078	0.0:0.0:1.0:0.0	.	860;860	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	860	ENSP00000352463:L860F;ENSP00000335561:L860F	ENSP00000335561:L860F	L	-	1	0	TCF20	40938678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.088000	0.64486	2.718000	0.92993	0.655000	0.94253	CTC		0.478	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		24	92	0	0	0	1	0	24	92				
F13B	2165	broad.mit.edu	37	1	197029657	197029657	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:197029657G>A	ENST00000367412.1	-	5	687	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	215	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATCTTAAAGAAGAGCACTT	0.264																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(643-645)tCt>tTt		coagulation factor XIII, B polypeptide							32.0	36.0	35.0					1																	197029657		2190	4285	6475	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197029657G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.644C>T	1.37:g.197029657G>A	ENSP00000356382:p.Ser215Phe						p.S215F	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			5	687	-			215			Sushi 4.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.644C>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286817	0.40494	.	.	ENSG00000143278	ENST00000367412	T	0.64991	-0.13	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.264128	0.20285	N	0.095372	T	0.43055	0.1230	N	0.12569	0.235	0.34184	D	0.671249	B	0.26744	0.158	B	0.25884	0.064	T	0.54146	-0.8337	10	0.56958	D	0.05	.	9.4206	0.38548	0.0716:0.0:0.7844:0.144	.	215	P05160	F13B_HUMAN	F	215	ENSP00000356382:S215F	ENSP00000356382:S215F	S	-	2	0	F13B	195296280	0.954000	0.32549	0.874000	0.34290	0.996000	0.88848	2.641000	0.46587	2.879000	0.98667	0.650000	0.86243	TCT		0.264	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		9	16	0	0	0	1	0	9	16				
ZSCAN10	84891	broad.mit.edu	37	16	3139731	3139731	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139731G>C	ENST00000252463.2	-	5	1626	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	513					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCACCCGTTGGTGGCTGACCA	0.711																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1537-1539)caC>caG		zinc finger and SCAN domain containing 10							11.0	12.0	12.0					16																	3139731		2178	4259	6437	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139731G>C	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1539C>G	16.37:g.3139731G>C	ENSP00000252463:p.His513Gln					ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q	p.H513Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1626	-			513					B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1539C>G	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763666	0.49574	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	D	0.86865	-2.18	5.34	4.17	0.49024	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000050	D	0.94512	0.8233	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.977	D	0.95113	0.8240	10	0.87932	D	0	-38.9554	12.1615	0.54107	0.0983:0.0:0.9017:0.0	.	174;446;513	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	Q	446;513	ENSP00000252463:H513Q	ENSP00000252463:H513Q	H	-	3	2	ZSCAN10	3079732	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.275000	0.43399	2.504000	0.84457	0.561000	0.74099	CAC		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		3	15	0	0	0	1	0	3	15				
COL21A1	81578	broad.mit.edu	37	6	56006596	56006596	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:56006596C>T	ENST00000244728.5	-	12	1926	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	510	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				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)			GTCACCATCTCGCCCTGGTTC	0.368																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1528-1530)cGa>cAa		collagen, type XXI, alpha 1							171.0	156.0	161.0					6																	56006596		1923	4140	6063	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006596C>T	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.1529G>A	6.37:g.56006596C>T	ENSP00000244728:p.Arg510Gln					COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q	p.R510Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1926	-	Lung NSC(77;0.0483)		510					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1529G>A	CCDS55025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.93|13.93	2.384253|2.384253	0.42308|0.42308	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000456983|ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	.|T;T;T	.|0.16597	.|2.33;2.33;2.33	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.205916	.|0.32987	.|N	.|0.005404	T|T	0.03011|0.03011	0.0089|0.0089	N|N	0.05078|0.05078	-0.115|-0.115	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30937	.|0.301;0.282	.|B;B	.|0.23018	.|0.043;0.023	T|T	0.41052|0.41052	-0.9530|-0.9530	5|10	.|0.14252	.|T	.|0.57	.|.	14.4967|14.4967	0.67694|0.67694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|507;510	.|Q96P44-3;Q96P44	.|.;COLA1_HUMAN	K|Q	74|510;507;510;507	.|ENSP00000244728:R510Q;ENSP00000359855:R507Q;ENSP00000444384:R510Q	.|ENSP00000244728:R510Q	E|R	-|-	1|2	0|0	COL21A1|COL21A1	56114555|56114555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.957000|1.957000	0.40392|0.40392	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.368	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			35	30	0	0	0	1	0	35	30				
SYNPO2	171024	broad.mit.edu	37	4	119948345	119948345	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:119948345G>T	ENST00000429713.2	+	3	1003	c.821G>T	c.(820-822)aGt>aTt	p.S274I	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.S274I	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	274						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCCAGGAAAGTGAAGCAGGA	0.522																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(820-822)aGt>aTt		synaptopodin 2							68.0	71.0	70.0					4																	119948345		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119948345G>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.821G>T	4.37:g.119948345G>T	ENSP00000395143:p.Ser274Ile					SYNPO2_ENST00000429713.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I	p.S274I	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			3	1017	+			274					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.821G>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.759419|1.759419	0.31137|0.31137	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.08984	.|3.03;3.03;3.03	5.11|5.11	-0.0287|-0.0287	0.13921|0.13921	.|.	.|1.211810	.|0.05627	.|N	.|0.580974	T|T	0.09818|0.09818	0.0241|0.0241	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.26195	.|0.089;0.144;0.089;0.089	.|B;B;B;B	.|0.28784	.|0.043;0.094;0.07;0.043	T|T	0.41378|0.41378	-0.9512|-0.9512	5|10	.|0.44086	.|T	.|0.13	3.4915|3.4915	6.2573|6.2573	0.20881|0.20881	0.2521:0.3848:0.363:0.0|0.2521:0.3848:0.363:0.0	.|.	.|274;274;274;274	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	N|I	225|274	.|ENSP00000306015:S274I;ENSP00000395143:S274I;ENSP00000390965:S274I	.|ENSP00000306015:S274I	K|S	+|+	3|2	2|0	SYNPO2|SYNPO2	120167793|120167793	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.044000|0.044000	0.14063|0.14063	1.003000|1.003000	0.29809|0.29809	0.006000|0.006000	0.14734|0.14734	0.557000|0.557000	0.71058|0.71058	AAG|AGT		0.522	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			8	20	1	0	1.06961e-07	1	1.32323e-07	8	20				
OGDHL	55753	broad.mit.edu	37	10	50950920	50950920	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:50950920T>C	ENST00000374103.4	-	15	2051	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	656					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACGTGGATGCCTTCCTTC	0.642																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1966-1968)Atc>Gtc		oxoglutarate dehydrogenase-like							89.0	65.0	73.0					10																	50950920		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50950920T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1966A>G	10.37:g.50950920T>C	ENSP00000363216:p.Ile656Val					OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	p.I656V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			15	2051	-			656					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1966A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	t	11.50	1.656584	0.29425	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91464	-2.85;-2.85;-2.85	5.22	5.22	0.72569	Transketolase-like, pyrimidine-binding domain (2);	0.111469	0.64402	D	0.000013	D	0.83834	0.5340	N	0.20986	0.625	0.41709	D	0.989445	B;B;B	0.13594	0.008;0.004;0.001	B;B;B	0.17098	0.017;0.012;0.012	T	0.79095	-0.1944	10	0.18276	T	0.48	.	15.4022	0.74849	0.0:0.0:0.0:1.0	.	599;447;656	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	V	656;599;447	ENSP00000363216:I656V;ENSP00000401356:I599V;ENSP00000390240:I447V	ENSP00000363216:I656V	I	-	1	0	OGDHL	50620926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.481000	0.53179	2.089000	0.63090	0.529000	0.55759	ATC		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		4	35	0	0	0	1	0	4	35				
HLA-DRA	3122	broad.mit.edu	37	6	32410365	32410365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:32410365C>T	ENST00000374982.5	+	2	296	c.223C>T	c.(223-225)Cga>Tga	p.R75*	HLA-DRA_ENST00000395388.2_Nonsense_Mutation_p.R75*			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	75	Alpha-1.			R -> P (in Ref. 12; AA sequence). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AGAATTTGGACGATTTGCCAG	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(223-225)Cga>Tga		major histocompatibility complex, class II, DR alpha							161.0	159.0	160.0					6																	32410365		1511	2709	4220	SO:0001587	stop_gained	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410365C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.223C>T	6.37:g.32410365C>T	ENSP00000364121:p.Arg75*					HLA-DRA_ENST00000374982.5_Nonsense_Mutation_p.R75*	p.R75*	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			2	332	+			75	R -> P (in Ref. 12; AA sequence).		Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Nonsense_Mutation	SNP	ENST00000374982.5	37	c.223C>T		.	.	.	.	.	.	.	.	.	.	.	13.84	2.358021	0.41801	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	.	.	.	5.38	-1.54	0.08584	.	0.986535	0.08266	N	0.972187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	4.4967	0.11840	0.5384:0.2612:0.122:0.0784	.	.	.	.	X	75	.	ENSP00000364121:R75X	R	+	1	2	HLA-DRA	32518343	0.000000	0.05858	0.001000	0.08648	0.182000	0.23217	-0.347000	0.07750	-0.118000	0.11851	-0.171000	0.13296	CGA		0.468	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		28	165	0	0	0	1	0	28	165				
MYH8	4626	broad.mit.edu	37	17	10295902	10295902	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:10295902C>T	ENST00000403437.2	-	38	5619	c.5525G>A	c.(5524-5526)gGt>gAt	p.G1842D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1842					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCCGTAAACCTTTAACAGC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5524-5526)gGt>gAt		myosin, heavy chain 8, skeletal muscle, perinatal							196.0	181.0	186.0					17																	10295902		2202	4300	6502	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295902C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5525G>A	17.37:g.10295902C>T	ENSP00000384330:p.Gly1842Asp					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.G1842D	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			38	5619	-			1842					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5525G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116353	0.77323	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77620	-1.11	5.03	5.03	0.67393	Myosin tail (1);	0.000000	0.42548	U	0.000689	D	0.82568	0.5065	M	0.87971	2.92	0.80722	D	1	B	0.10296	0.003	B	0.23275	0.045	T	0.81673	-0.0826	10	0.72032	D	0.01	.	18.5734	0.91145	0.0:1.0:0.0:0.0	.	1842	P13535	MYH8_HUMAN	D	1842	ENSP00000384330:G1842D	ENSP00000252173:G1842D	G	-	2	0	MYH8	10236627	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.609000	0.82925	2.610000	0.88304	0.650000	0.86243	GGT		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		5	194	0	0	0	1	0	5	194				
LRRK1	79705	broad.mit.edu	37	15	101528904	101528904	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:101528904G>A	ENST00000388948.3	+	5	858	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R|LRRK1_ENST00000284395.5_Missense_Mutation_p.G164R	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGCACCTGGGGGTTGTGAA	0.622																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(490-492)Ggg>Agg		leucine-rich repeat kinase 1							68.0	73.0	71.0					15																	101528904		2017	4169	6186	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101528904G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.499G>A	15.37:g.101528904G>A	ENSP00000373600:p.Gly167Arg					LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R|LRRK1_ENST00000388948.3_Missense_Mutation_p.G167R	p.G164R			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	890	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		167						Missense_Mutation	SNP	ENST00000388948.3	37	c.490G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174264	0.38413	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.63744	-0.06;0.64;-0.06	5.5	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.427431	0.21151	N	0.079327	T	0.52451	0.1735	L	0.37697	1.125	0.26224	N	0.979112	B;P	0.44380	0.175;0.834	B;B	0.40009	0.076;0.316	T	0.48269	-0.9050	10	0.44086	T	0.13	.	13.1729	0.59609	0.0764:0.0:0.9236:0.0	.	167;167	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	R	167;164;167	ENSP00000373600:G167R;ENSP00000284395:G164R;ENSP00000433268:G167R	ENSP00000284395:G164R	G	+	1	0	LRRK1	99346427	1.000000	0.71417	0.869000	0.34112	0.067000	0.16453	6.524000	0.73791	1.332000	0.45431	0.650000	0.86243	GGG		0.622	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		20	60	0	0	0	1	0	20	60				
PROSER3	148137	broad.mit.edu	37	19	36259310	36259310	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:36259310G>T	ENST00000396908.4	+	12	1376	c.1303G>T	c.(1303-1305)Gcg>Tcg	p.A435S	C19orf55_ENST00000544099.1_3'UTR|AC002398.13_ENST00000589397.1_RNA	NM_001039887.2	NP_001034976.2	Q2NL68	PRSR3_HUMAN		436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGGAAGCGGATGCCCG	0.627																																						ENST00000396908.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(1303-1305)Gcg>Tcg		chromosome 19 open reading frame 55							39.0	42.0	41.0					19																	36259310		876	1991	2867	SO:0001583	missense	148137							g.chr19:36259310G>T																												ENST00000396908.4:c.1303G>T	19.37:g.36259310G>T	ENSP00000380116:p.Ala435Ser					C19orf55_ENST00000544099.1_3'UTR	p.A435S	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		12	1376	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		436					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000396908.4	37	c.1303G>T		.	.	.	.	.	.	.	.	.	.	G	13.04	2.119328	0.37436	.	.	ENSG00000167595	ENST00000396908	T	0.31510	1.49	5.22	4.1	0.47936	.	.	.	.	.	T	0.34687	0.0906	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.12142	-1.0559	6	0.49607	T	0.09	-0.5016	11.0537	0.47905	0.0:0.1874:0.8126:0.0	.	.	.	.	S	435	ENSP00000380116:A435S	ENSP00000380116:A435S	A	+	1	0	C19orf55	40951150	0.990000	0.36364	0.972000	0.41901	0.070000	0.16714	1.832000	0.39151	2.826000	0.97356	0.563000	0.77884	GCG		0.627	C19orf55-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	30	1	0	1.23904e-05	1	1.45769e-05	4	30				
DIAPH2	1730	broad.mit.edu	37	X	96173534	96173534	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:96173534C>A	ENST00000324765.8	+	9	1243	c.896C>A	c.(895-897)aCa>aAa	p.T299K	DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	299	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGGCTATAACAACAGCAGCA	0.368																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(895-897)aCa>aAa		diaphanous-related formin 2							89.0	79.0	83.0					X																	96173534		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96173534C>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.896C>A	X.37:g.96173534C>A	ENSP00000321348:p.Thr299Lys					DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K	p.T299K			O60879	DIAP2_HUMAN			9	1243	+			299			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.896C>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	c	19.62	3.862391	0.71949	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.77	5.77	0.91146	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	M	0.88570	2.965	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.996	D	0.94312	0.7546	10	0.44086	T	0.13	.	18.555	0.91080	0.0:1.0:0.0:0.0	.	299;299;306	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	K	299;295;299;299;299;306	ENSP00000362152:T299K;ENSP00000362145:T295K;ENSP00000348082:T299K;ENSP00000362140:T299K;ENSP00000321348:T299K	ENSP00000321348:T299K	T	+	2	0	DIAPH2	96060190	0.998000	0.40836	0.937000	0.37676	0.911000	0.54048	3.303000	0.51858	2.431000	0.82371	0.534000	0.68092	ACA		0.368	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		8	44	1	0	3.86212e-05	1	4.41385e-05	8	44				
MCC	4163	broad.mit.edu	37	5	112406798	112406798	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112406798G>C	ENST00000302475.4	-	10	1911	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000408903.3_Missense_Mutation_p.Q640E	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	450					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TACCTGTACTGCAAGGCCAGC	0.478																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1348-1350)Cag>Gag		mutated in colorectal cancers							209.0	165.0	180.0					5																	112406798		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112406798G>C		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1348C>G	5.37:g.112406798G>C	ENSP00000305617:p.Gln450Glu					MCC_ENST00000408903.3_Missense_Mutation_p.Q640E|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000514701.3_5'UTR	p.Q450E	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	10	1911	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	450					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1348C>G	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491994	0.26774	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.52295	0.67;0.67;0.67	5.15	5.15	0.70609	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	L	0.31578	0.945	0.58432	D	0.999997	P;P;D	0.53885	0.843;0.811;0.963	P;P;P	0.58928	0.848;0.83;0.736	T	0.31861	-0.9928	10	0.02654	T	1	-30.397	18.9856	0.92767	0.0:0.0:1.0:0.0	.	450;640;450	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	E	450;387;640	ENSP00000305617:Q450E;ENSP00000421615:Q387E;ENSP00000386227:Q640E	ENSP00000305617:Q450E	Q	-	1	0	MCC	112434697	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.786000	0.85741	2.567000	0.86603	0.591000	0.81541	CAG		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		28	58	0	0	0	1	0	28	58				
TACC2	10579	broad.mit.edu	37	10	123848117	123848117	+	Intron	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:123848117G>T	ENST00000369005.1	+	5	5913				TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.D1862Y|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000334433.3_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1862Y	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2						astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCAGCGAAAGATATTGGTCT	0.443																																						ENST00000515273.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5584-5586)Gat>Tat		transforming, acidic coiled-coil containing protein 2							64.0	55.0	58.0					10																	123848117		2203	4300	6503	SO:0001627	intron_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123848117G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5573+11G>T	10.37:g.123848117G>T						TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1862Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000369005.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000334433.3_Intron	p.D1862Y			O95359	TACC2_HUMAN			5	5912	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1859					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5584G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	7.121	0.578030	0.13686	.	.	ENSG00000138162	ENST00000515273;ENST00000453444	T;T	0.03065	4.06;4.06	5.26	-5.72	0.02406	.	.	.	.	.	T	0.01661	0.0053	.	.	.	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.48570	-0.9024	7	.	.	.	.	0.9086	0.01290	0.1704:0.1993:0.3481:0.2821	.	1862	E9PBC6	.	Y	1862	ENSP00000424467:D1862Y;ENSP00000395048:D1862Y	.	D	+	1	0	TACC2	123838107	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.242000	0.08928	-0.698000	0.05085	-0.281000	0.10026	GAT		0.443	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	8	1	0	0.00024832	1	0.00027338	4	8				
INADL	10207	broad.mit.edu	37	1	62329953	62329953	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:62329953A>G	ENST00000371158.2	+	20	2597	c.2483A>G	c.(2482-2484)gAa>gGa	p.E828G	INADL_ENST00000316485.6_Missense_Mutation_p.E828G	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	828					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTGTGGATGAACCATTTCTA	0.383																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(2482-2484)gAa>gGa		InaD-like (Drosophila)							59.0	62.0	61.0					1																	62329953		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62329953A>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2483A>G	1.37:g.62329953A>G	ENSP00000360200:p.Glu828Gly					INADL_ENST00000316485.6_Missense_Mutation_p.E828G	p.E828G	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			20	2597	+			828					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2483A>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121091	0.56613	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.16597	2.47;2.33	5.17	4.03	0.46877	.	0.568109	0.16725	N	0.202108	T	0.27832	0.0685	L	0.60455	1.87	0.80722	D	1	D;P;P	0.54601	0.967;0.546;0.726	P;B;P	0.53102	0.718;0.205;0.451	T	0.01648	-1.1304	10	0.49607	T	0.09	.	11.0383	0.47816	0.9255:0.0:0.0745:0.0	.	828;828;828	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	G	828	ENSP00000360200:E828G;ENSP00000326199:E828G	ENSP00000255202:E828G	E	+	2	0	INADL	62102541	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	4.399000	0.59703	1.950000	0.56595	0.454000	0.30748	GAA		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		5	51	0	0	0	1	0	5	51				
IGHV1-18	28468	broad.mit.edu	37	14	106641630	106641630	+	RNA	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:106641630G>A	ENST00000390605.2	-	0	342									immunoglobulin heavy variable 1-18																		GGCTGTGCTCGTGGATGTGTC	0.527																																						ENST00000390605.2																			0																				203.0	199.0	200.0					14																	106641630		2129	4238	6367			0							g.chr14:106641630G>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641630G>A														0	342	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.527	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		72	128	0	0	0	1	0	72	128				
RBMXL2	27288	broad.mit.edu	37	11	7111318	7111318	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:7111318C>T	ENST00000306904.5	+	1	1154	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	323	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCGGCGGCCGCGACAGTTA	0.682																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(967-969)Cgc>Tgc		RNA binding motif protein, X-linked-like 2							16.0	18.0	17.0					11																	7111318		2176	4252	6428	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111318C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.967C>T	11.37:g.7111318C>T	ENSP00000304139:p.Arg323Cys						p.R323C	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1154	+			323			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.967C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165930	0.78339	.	.	ENSG00000170748	ENST00000306904	T	0.80738	-1.41	3.67	3.67	0.42095	.	0.000000	0.85682	U	0.000000	D	0.87144	0.6104	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86801	0.1992	10	0.44086	T	0.13	.	13.6724	0.62434	0.0:1.0:0.0:0.0	.	323	O75526	HNRGT_HUMAN	C	323	ENSP00000304139:R323C	ENSP00000304139:R323C	R	+	1	0	RBMXL2	7067894	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.478000	0.45189	2.328000	0.79073	0.563000	0.77884	CGC		0.682	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		3	33	0	0	0	1	0	3	33				
KCNG4	93107	broad.mit.edu	37	16	84270341	84270341	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:84270341C>T	ENST00000308251.4	-	2	819	c.751G>A	c.(751-753)Gac>Aac	p.D251N	KCNG4_ENST00000568181.1_Missense_Mutation_p.D251N	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	251					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CTCACCTGGTCCTCCTCTGCC	0.607																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(751-753)Gac>Aac		potassium voltage-gated channel, subfamily G, member 4							30.0	29.0	29.0					16																	84270341		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270341C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.751G>A	16.37:g.84270341C>T	ENSP00000312129:p.Asp251Asn					KCNG4_ENST00000308251.4_Missense_Mutation_p.D251N	p.D251N			Q8TDN1	KCNG4_HUMAN			2	871	-			251					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.751G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253351	0.80135	.	.	ENSG00000168418	ENST00000308251	D	0.96459	-4.02	5.11	5.11	0.69529	.	0.350713	0.31301	N	0.007893	D	0.96549	0.8874	M	0.61703	1.905	0.34853	D	0.741792	B;D	0.53462	0.085;0.96	B;P	0.52856	0.022;0.711	D	0.98483	1.0606	10	0.31617	T	0.26	.	17.5437	0.87855	0.0:1.0:0.0:0.0	.	251;251	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	N	251	ENSP00000312129:D251N	ENSP00000312129:D251N	D	-	1	0	KCNG4	82827842	0.999000	0.42202	1.000000	0.80357	0.497000	0.33675	2.426000	0.44731	2.364000	0.80123	0.549000	0.68633	GAC		0.607	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		9	41	0	0	0	1	0	9	41				
AIFM1	9131	broad.mit.edu	37	X	129274525	129274525	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:129274525T>A	ENST00000287295.3	-	7	994	c.764A>T	c.(763-765)aAg>aTg	p.K255M	AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	255	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	AATCAAGCACTTTTCATAGGT	0.423																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(763-765)aAg>aTg		apoptosis-inducing factor, mitochondrion-associated, 1							234.0	190.0	205.0					X																	129274525		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129274525T>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.764A>T	X.37:g.129274525T>A	ENSP00000287295:p.Lys255Met					AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M|AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000346424.2_Intron	p.K255M	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			7	994	-			255			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.764A>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216169	0.79352	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;T;T	0.53206	0.63;0.63;0.63	5.26	5.26	0.73747	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.992;0.996	T	0.81326	-0.0983	10	0.87932	D	0	-12.9722	14.2439	0.65975	0.0:0.0:0.0:1.0	.	255;251;255	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	M	251;168;255	ENSP00000315122:K251M;ENSP00000446113:K168M;ENSP00000287295:K255M	ENSP00000287295:K255M	K	-	2	0	AIFM1	129102206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.741000	0.51731	0.380000	0.24917	AAG		0.423	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			13	75	0	0	0	1	0	13	75				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	80	0	0	0	1	0	4	80				
MYH9	4627	broad.mit.edu	37	22	36681964	36681964	+	Silent	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:36681964G>A	ENST00000216181.5	-	36	5327	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1699					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTGCTGGGCCTGGCGCT	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5095-5097)gcC>gcT		myosin, heavy chain 9, non-muscle							48.0	46.0	47.0					22																	36681964		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681964G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5097C>T	22.37:g.36681964G>A						MYH9_ENST00000475726.1_5'UTR	p.A1699A	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5327	-			1699					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.5097C>T	CCDS13927.1																																																																																				0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		21	39	0	0	0	1	0	21	39				
KRT19	3880	broad.mit.edu	37	17	39684190	39684190	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39684190C>T	ENST00000361566.3	-	1	370	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	104	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCGCCGTTGGCCGCCTCCAGG	0.657																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(310-312)Gcc>Acc		keratin 19							51.0	58.0	56.0					17																	39684190		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39684190C>T		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.310G>A	17.37:g.39684190C>T	ENSP00000355124:p.Ala104Thr						p.A104T	NM_002276.4	NP_002267.2					1	370	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.310G>A	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	C	37	6.187780	0.97357	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.89196	-2.48;-1.68	4.83	4.83	0.62350	Filament (1);	0.000000	0.46758	D	0.000268	D	0.91392	0.7284	M	0.65320	2	0.80722	D	1	P	0.51537	0.946	P	0.53689	0.732	D	0.90435	0.4427	10	0.34782	T	0.22	.	18.2759	0.90083	0.0:1.0:0.0:0.0	.	104	P08727	K1C19_HUMAN	T	104	ENSP00000355124:A104T;ENSP00000408759:A104T	ENSP00000355124:A104T	A	-	1	0	KRT19	36937716	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	7.639000	0.83342	2.387000	0.81309	0.462000	0.41574	GCC		0.657	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		4	109	0	0	0	1	0	4	109				
DDTL	100037417	broad.mit.edu	37	22	24313560	24313560	+	Silent	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:24313560T>C	ENST00000215770.5	+	3	384	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	DDT_ENST00000350608.3_3'UTR|DDT_ENST00000398344.4_3'UTR|KB-226F1.2_ENST00000609736.1_lincRNA	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)			kidney(1)|urinary_tract(1)	2						GAAGTCATGTTTGAATGAGGA	0.468																																						ENST00000215770.5																			0				kidney(1)|urinary_tract(1)	2						c.(370-372)Ttg>Ctg		D-dopachrome tautomerase-like							89.0	93.0	92.0					22																	24313560		2201	4297	6498	SO:0001819	synonymous_variant	100037417					cytoplasm	lyase activity	g.chr22:24313560T>C	CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"""D-dopachrome decarboxylase-like protein"""					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.370T>C	22.37:g.24313560T>C						DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	p.L124L	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN			3	384	+			124					B4DJJ7	Silent	SNP	ENST00000215770.5	37	c.370T>C	CCDS42988.1																																																																																				0.468	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1	NM_001084393		14	60	0	0	0	1	0	14	60				
FN1	2335	broad.mit.edu	37	2	216292953	216292953	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:216292953C>T	ENST00000359671.1	-	6	1059	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000354785.4_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q			P02751	FINC_HUMAN	fibronectin 1	265	Fibrin- and heparin-binding 1.|Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCACTCTCCTCGGCCGTTGCC	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(793-795)cGa>cAa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128.0	108.0	115.0					2																	216292953		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292953C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.794G>A	2.37:g.216292953C>T	ENSP00000352696:p.Arg265Gln					FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000359671.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q|FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q	p.R265Q			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1163	-		Renal(323;0.127)	265			Fibrin- and heparin-binding 1.|Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.794G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.672949	0.96754	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.69151	0.3079	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.961;1.0;1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;P;D;D;D;D;D;D;D	0.91635	0.999;0.991;0.974;0.688;0.975;0.985;0.999;0.952;0.975;0.975;0.991	T	0.68723	-0.5333	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	265;265;265;265;265;265;265;265;265;265;265	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	265	ENSP00000394423:R265Q;ENSP00000323534:R265Q;ENSP00000338200:R265Q;ENSP00000350534:R265Q;ENSP00000346839:R265Q;ENSP00000352696:R265Q;ENSP00000265312:R265Q;ENSP00000273049:R265Q;ENSP00000349509:R265Q;ENSP00000410422:R265Q;ENSP00000415018:R265Q;ENSP00000399538:R265Q;ENSP00000348285:R265Q;ENSP00000398907:R265Q	ENSP00000265313:R265Q	R	-	2	0	FN1	216001198	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	CGA		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		3	54	0	0	0	1	0	3	54				
MAATS1	89876	broad.mit.edu	37	3	119462954	119462954	+	Missense_Mutation	SNP	C	C	T	rs142545565		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:119462954C>T	ENST00000273390.5	+	14	1890	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	441						mitochondrion (GO:0005739)		p.R605C(1)									GCTGGCTGAGCGCCAGCGGCG	0.582																																						ENST00000273390.5																			1	Substitution - Missense(1)	p.R605C(1)	endometrium(1)								c.(1813-1815)Cgc>Tgc		MYCBP-associated, testis expressed 1		C	CYS/ARG	0,4406		0,0,2203	83.0	76.0	79.0		1813	1.2	0.8	3	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	605/768	119462954	1,13005	2203	4300	6503	SO:0001583	missense	89876							g.chr3:119462954C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1813C>T	3.37:g.119462954C>T	ENSP00000273390:p.Arg605Cys						p.R605C	NM_033364.3	NP_203528.2					14	1890	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1813C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961632	0.74016	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.30182	1.54	5.65	1.18	0.20946	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68981	-0.5266	10	0.87932	D	0	-12.6434	16.1506	0.81618	0.5148:0.4852:0.0:0.0	.	441;543;605	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	C	605	ENSP00000273390:R605C	ENSP00000273390:R605C	R	+	1	0	C3orf15	120945644	0.999000	0.42202	0.837000	0.33122	0.947000	0.59692	0.817000	0.27281	0.288000	0.22398	0.484000	0.47621	CGC		0.582	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		14	79	0	0	0	1	0	14	79				
LAMC2	3918	broad.mit.edu	37	1	183192355	183192355	+	Silent	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:183192355T>A	ENST00000264144.4	+	7	914	c.849T>A	c.(847-849)tcT>tcA	p.S283S	LAMC2_ENST00000493293.1_Silent_p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	283	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GACACCCATCTGCCCATGATG	0.507																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(847-849)tcT>tcA		laminin, gamma 2							126.0	121.0	123.0					1																	183192355		2203	4300	6503	SO:0001819	synonymous_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183192355T>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.849T>A	1.37:g.183192355T>A						LAMC2_ENST00000493293.1_Silent_p.S283S	p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			7	914	+			283			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	ENST00000264144.4	37	c.849T>A	CCDS1352.1																																																																																				0.507	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		4	76	0	0	0	1	0	4	76				
SULT2B1	6820	broad.mit.edu	37	19	49102472	49102472	+	Missense_Mutation	SNP	G	G	T	rs375751466		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:49102472G>T	ENST00000201586.2	+	7	1085	c.907G>T	c.(907-909)Ggg>Tgg	p.G303W	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000323090.4_Missense_Mutation_p.G288W	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	303					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCAGATGCGGGGGATGCCGAC	0.657																																						ENST00000323090.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11						c.(862-864)Ggg>Tgg		sulfotransferase family, cytosolic, 2B, member 1							42.0	35.0	37.0					19																	49102472		2200	4298	6498	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49102472G>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.907G>T	19.37:g.49102472G>T	ENSP00000201586:p.Gly303Trp					SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.G303W	p.G288W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	6	1237	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	303					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.862G>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995003	0.54041	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.83419	-1.72;-1.72	5.07	3.99	0.46301	Sulfotransferase domain (1);	0.000000	0.41001	U	0.000971	D	0.92473	0.7610	M	0.93808	3.46	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	D	0.85889	0.1427	10	0.72032	D	0.01	.	11.6503	0.51284	0.0:0.1796:0.8204:0.0	.	288;303	O00204-2;O00204	.;ST2B1_HUMAN	W	303;288	ENSP00000201586:G303W;ENSP00000312880:G288W	ENSP00000201586:G303W	G	+	1	0	SULT2B1	53794284	0.990000	0.36364	0.004000	0.12327	0.003000	0.03518	5.780000	0.68956	1.223000	0.43536	0.551000	0.68910	GGG		0.657	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605		3	9	1	0	0.184627	1	0.189361	3	9				
PTPDC1	138639	broad.mit.edu	37	9	96859752	96859752	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:96859752C>T	ENST00000375360.3	+	7	1082	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	248					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AACTCCTCTCCGCAATATATT	0.453																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(742-744)Cgc>Tgc		protein tyrosine phosphatase domain containing 1							117.0	112.0	114.0					9																	96859752		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859752C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.742C>T	9.37:g.96859752C>T	ENSP00000364509:p.Arg248Cys					PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	p.R248C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1082	+			248					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.742C>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.93	3.509046	0.64410	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.15487	2.43;2.42	5.55	5.55	0.83447	.	0.048354	0.85682	D	0.000000	T	0.43077	0.1231	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.965;0.985;0.973;0.977	T	0.28170	-1.0052	10	0.54805	T	0.06	-17.2795	14.9826	0.71321	0.1428:0.8572:0.0:0.0	.	302;300;302;248	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	C	248;300	ENSP00000364509:R248C;ENSP00000288976:R300C	ENSP00000288976:R300C	R	+	1	0	PTPDC1	95899573	0.511000	0.26179	1.000000	0.80357	0.998000	0.95712	0.874000	0.28065	2.610000	0.88304	0.591000	0.81541	CGC		0.453	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		22	126	0	0	0	1	0	22	126				
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																						ENST00000259782.4																			1	Substitution - Missense(1)	p.R191C(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(571-573)Cgc>Tgc		tubulointerstitial nephritis antigen		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139.0	126.0	131.0		571	5.8	1.0	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191661C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys					TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	p.R191C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	667	+	Lung NSC(77;0.0518)		191					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.571C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		23	82	0	0	0	1	0	23	82				
ANAPC1	64682	broad.mit.edu	37	2	112536312	112536312	+	Silent	SNP	G	G	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:112536312G>C	ENST00000341068.3	-	45	6097	c.5325C>G	c.(5323-5325)ctC>ctG	p.L1775L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1775					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACATTCATAGAGTACTGAAG	0.373																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(5323-5325)ctC>ctG		anaphase promoting complex subunit 1							83.0	71.0	75.0					2																	112536312		2201	4297	6498	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112536312G>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5325C>G	2.37:g.112536312G>C							p.L1775L	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			45	6097	-			1775					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.5325C>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	7.497	0.651834	0.14516	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.05	-3.27	0.05048	.	0.000000	0.41001	D	0.000979	T	0.19087	0.0458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18241	-1.0343	6	0.07990	T	0.79	-3.8848	0.7229	0.00944	0.2783:0.2977:0.2226:0.2014	.	.	.	.	V	1310	.	ENSP00000396695:L1310V	L	-	1	2	ANAPC1	112252783	0.000000	0.05858	0.976000	0.42696	0.991000	0.79684	-4.080000	0.00299	-0.748000	0.04753	-0.266000	0.10368	CTA		0.373	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		11	61	0	0	0	1	0	11	61				
ARHGAP36	158763	broad.mit.edu	37	X	130220045	130220045	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:130220045C>A	ENST00000276211.5	+	9	1608	c.1263C>A	c.(1261-1263)aaC>aaA	p.N421K	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	421	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATTGATAACTGGGATGTCC	0.448																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1261-1263)aaC>aaA		Rho GTPase activating protein 36							301.0	258.0	272.0					X																	130220045		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220045C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1263C>A	X.37:g.130220045C>A	ENSP00000276211:p.Asn421Lys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K	p.N421K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			9	1608	+			421			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1263C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621571	0.46736	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.76	1.75	0.24633	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.261170	0.27558	N	0.018823	T	0.53417	0.1795	L	0.48986	1.54	0.34713	D	0.727957	D;D;D	0.67145	0.996;0.996;0.99	D;D;P	0.78314	0.991;0.991;0.903	T	0.59731	-0.7399	10	0.48119	T	0.1	.	3.3049	0.06996	0.0:0.522:0.2185:0.2595	.	390;409;421	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	K	421;409;390;285	ENSP00000276211:N421K;ENSP00000359960:N409K;ENSP00000408515:N390K;ENSP00000359959:N285K	ENSP00000276211:N421K	N	+	3	2	ARHGAP36	130047726	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.724000	0.25954	0.438000	0.26450	0.468000	0.43344	AAC		0.448	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		35	188	1	0	1.60099e-16	1	2.04381e-16	35	188				
SPATA31C1	441452	broad.mit.edu	37	9	90535202	90535202	+	RNA	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:90535202G>T	ENST00000602681.1	+	0	1106							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTGACTTTGGTCAGCTCTCT	0.602																																						ENST00000602681.1																			0																				52.0	62.0	59.0					9																	90535202		692	1589	2281			0							g.chr9:90535202G>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535202G>T														0	1106	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.602	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		11	65	1	0	3.41278e-10	1	4.26598e-10	11	65				
OPHN1	4983	broad.mit.edu	37	X	67273590	67273590	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:67273590G>T	ENST00000355520.5	-	22	2862	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGCCTCACTGGGGGGCGGATG	0.552																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(2221-2223)Cca>Aca		oligophrenin 1							55.0	50.0	52.0					X																	67273590		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67273590G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2221C>A	X.37:g.67273590G>T	ENSP00000347710:p.Pro741Thr					OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	p.P741T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			22	2862	-			741			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.2221C>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996271	0.74818	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.75050	-0.9;-0.9	4.98	4.98	0.66077	.	0.054184	0.85682	D	0.000000	T	0.78464	0.4287	L	0.27053	0.805	0.26423	N	0.976067	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.72404	-0.4304	10	0.72032	D	0.01	.	14.4788	0.67564	0.0:0.0:1.0:0.0	.	633;741	F5H2E3;O60890	.;OPHN1_HUMAN	T	741;633	ENSP00000347710:P741T;ENSP00000438617:P633T	ENSP00000347710:P741T	P	-	1	0	OPHN1	67190315	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.181000	0.65054	2.293000	0.77203	0.600000	0.82982	CCA		0.552	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		4	53	1	0	1	1	1	4	53				
ANKRD30A	91074	broad.mit.edu	37	10	37508389	37508389	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508389A>G	ENST00000602533.1	+	34	3680	c.3581A>G	c.(3580-3582)cAt>cGt	p.H1194R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H1313R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1250					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGTGCTCCATCAACCACTT	0.358																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3937-3939)cAt>cGt		ankyrin repeat domain 30A							58.0	52.0	54.0					10																	37508389		1850	4080	5930	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508389A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3581A>G	10.37:g.37508389A>G	ENSP00000473551:p.His1194Arg					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1194R	p.H1313R			Q9BXX3	AN30A_HUMAN			40	4037	+			1250					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3938A>G		.	.	.	.	.	.	.	.	.	.	a	0.665	-0.804305	0.02819	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13420	2.59;2.59	2.91	0.953	0.19590	.	.	.	.	.	T	0.11495	0.0280	L	0.48642	1.525	0.09310	N	1	B	0.31077	0.307	B	0.31191	0.125	T	0.27088	-1.0084	9	0.59425	D	0.04	.	4.6346	0.12518	0.2259:0.6436:0.0:0.1305	.	1250	Q9BXX3	AN30A_HUMAN	R	1194;1313	ENSP00000354432:H1194R;ENSP00000363792:H1313R	ENSP00000354432:H1194R	H	+	2	0	ANKRD30A	37548395	0.997000	0.39634	0.001000	0.08648	0.002000	0.02628	1.513000	0.35823	0.008000	0.14787	-0.750000	0.03501	CAT		0.358	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		7	30	0	0	0	1	0	7	30				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	4	0	0	0	1	0	6	4				
TBC1D4	9882	broad.mit.edu	37	13	75884224	75884224	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr13:75884224G>A	ENST00000377636.3	-	14	2793	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACAACCAGCGGTTCCTCCTC	0.488																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2446-2448)cCg>cTg		TBC1 domain family, member 4							73.0	67.0	69.0					13																	75884224		1874	4099	5973	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75884224G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2447C>T	13.37:g.75884224G>A	ENSP00000366863:p.Pro816Leu					TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L	p.P816L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	14	2793	-		Prostate(6;0.014)|Breast(118;0.0982)	816					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2447C>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889538	0.72524	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.30448	3.91;3.98;3.98;3.66;1.53	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.37128	0.0992	M	0.72894	2.215	0.58432	D	0.999998	B;B;B;P	0.41041	0.375;0.103;0.375;0.736	B;B;B;B	0.36335	0.09;0.035;0.112;0.222	T	0.19614	-1.0300	10	0.39692	T	0.17	-27.4042	20.3409	0.98764	0.0:0.0:1.0:0.0	.	33;753;808;816	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	L	816;808;753;33;265	ENSP00000366863:P816L;ENSP00000395986:P808L;ENSP00000366852:P753L;ENSP00000390654:P33L;ENSP00000396932:P265L	ENSP00000366852:P753L	P	-	2	0	TBC1D4	74782225	1.000000	0.71417	0.955000	0.39395	0.996000	0.88848	5.619000	0.67729	2.814000	0.96858	0.655000	0.94253	CCG		0.488	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		11	14	0	0	0	1	0	11	14				
TMEM144	55314	broad.mit.edu	37	4	159138562	159138562	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:159138562G>A	ENST00000296529.6	+	5	842	c.322G>A	c.(322-324)Gca>Aca	p.A108T	TMEM144_ENST00000514558.1_Missense_Mutation_p.A108T	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	108						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AACTGGCTGGGCAAGCTCAAG	0.383																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(322-324)Gca>Aca		transmembrane protein 144							101.0	97.0	99.0					4																	159138562		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159138562G>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.322G>A	4.37:g.159138562G>A	ENSP00000296529:p.Ala108Thr					TMEM144_ENST00000296529.6_Missense_Mutation_p.A108T	p.A108T			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	4	2118	+	all_hematologic(180;0.24)	Renal(120;0.0854)	108					D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.322G>A	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467386	0.63625	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558;ENST00000503200	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.81	4.97	0.65823	.	0.101480	0.64402	N	0.000002	T	0.61375	0.2342	M	0.87682	2.9	0.80722	D	1	B	0.24043	0.096	B	0.31946	0.138	T	0.61103	-0.7130	9	.	.	.	-31.1668	13.8347	0.63402	0.0744:0.0:0.9256:0.0	.	108	Q7Z5S9	TM144_HUMAN	T	108	ENSP00000422297:A108T;ENSP00000296529:A108T;ENSP00000422082:A108T;ENSP00000426211:A108T;ENSP00000420990:A108T	.	A	+	1	0	TMEM144	159358012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.365000	0.66116	1.468000	0.48064	0.655000	0.94253	GCA		0.383	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		3	31	0	0	0	1	0	3	31				
TTN	7273	broad.mit.edu	37	2	179639178	179639178	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:179639178T>A	ENST00000591111.1	-	30	7037	c.6813A>T	c.(6811-6813)aaA>aaT	p.K2271N	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K2271N|TTN_ENST00000589042.1_Missense_Mutation_p.K2271N|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N			Q8WZ42	TITIN_HUMAN	titin	12594	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAGTTCTTTCACAAACT	0.353																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6811-6813)aaA>aaT		titin							53.0	53.0	53.0					2																	179639178		2202	4300	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639178T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6813A>T	2.37:g.179639178T>A	ENSP00000465570:p.Lys2271Asn					TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K2271N|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN_ENST00000360870.5_Missense_Mutation_p.K2271N	p.K2271N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		30	7037	-			1995			Ig-like 12.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6813A>T		.	.	.	.	.	.	.	.	.	.	T	10.06	1.246557	0.22796	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.6	4.44	0.53790	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79787	0.4506	M	0.71036	2.16	0.27042	N	0.963999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.71394	-0.4606	9	0.87932	D	0	.	10.9746	0.47459	0.0:0.1351:0.0:0.8649	.	2225;2225;2225;2271;2271	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	2271;2225;2225;2225;2225;2271	ENSP00000343764:K2271N;ENSP00000434586:K2225N;ENSP00000340554:K2225N;ENSP00000352154:K2225N;ENSP00000354117:K2271N	ENSP00000340554:K2225N	K	-	3	2	TTN	179347423	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.425000	0.34859	0.407000	0.25591	-1.481000	0.00988	AAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	20	0	0	0	1	0	4	20				
KIAA1217	56243	broad.mit.edu	37	10	24508622	24508622	+	Silent	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:24508622C>T	ENST00000376454.3	+	2	168	c.138C>T	c.(136-138)cgC>cgT	p.R46R	KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Silent_p.R46R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	46					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAAGGAACGCCTTTCTAATG	0.463																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(136-138)cgC>cgT		KIAA1217							73.0	67.0	69.0					10																	24508622		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24508622C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.138C>T	10.37:g.24508622C>T						KIAA1217_ENST00000376452.3_Silent_p.R46R|KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376462.1_5'UTR	p.R46R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			2	168	+			46					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.138C>T	CCDS31165.1																																																																																				0.463	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		8	31	0	0	0	1	0	8	31				
CTNND1	1500	broad.mit.edu	37	11	57563185	57563185	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:57563185G>A	ENST00000399050.4	+	5	940	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000524630.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	135					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGGACCACTCGGCGCACAGAG	0.507																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(403-405)cGg>cAg		catenin (cadherin-associated protein), delta 1							42.0	46.0	45.0					11																	57563185		1939	4137	6076	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57563185G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.404G>A	11.37:g.57563185G>A	ENSP00000382004:p.Arg135Gln					CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000531014.1_Intron	p.R135Q			O60716	CTND1_HUMAN			5	917	+		all_epithelial(135;0.155)	135					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.404G>A	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970383	0.97156	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000530068;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79033	1.5;1.5;1.5;1.5;1.5;-0.9;-0.78;1.5;1.5;1.5;-0.78;-0.78;1.5;-1.08;-0.9;-0.9;-0.9;1.5;-0.78;-1.23;-0.93;-0.93;-0.89;-0.88;-0.78;-0.9;1.5;1.5;1.51	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.76494	0.991;0.991;0.985;0.991;0.991;0.999;0.991;0.985	P;P;P;P;P;D;P;P	0.72338	0.69;0.69;0.493;0.69;0.69;0.977;0.69;0.493	D	0.87005	0.2119	10	0.62326	D	0.03	-5.7294	19.6517	0.95819	0.0:0.0:1.0:0.0	.	135;135;135;81;81;135;135;135	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	Q	135;135;135;135;135;81;34;135;135;135;34;34;135;34;81;81;81;135;34;81;81;81;34;34;34;81;135;81;57	ENSP00000436543:R135Q;ENSP00000434808:R135Q;ENSP00000381996:R135Q;ENSP00000353902:R135Q;ENSP00000354907:R135Q;ENSP00000436323:R81Q;ENSP00000409930:R34Q;ENSP00000382004:R135Q;ENSP00000354785:R135Q;ENSP00000354823:R135Q;ENSP00000432075:R34Q;ENSP00000437156:R34Q;ENSP00000351527:R135Q;ENSP00000434949:R34Q;ENSP00000435379:R81Q;ENSP00000432243:R81Q;ENSP00000436744:R81Q;ENSP00000413586:R135Q;ENSP00000435266:R34Q;ENSP00000435494:R81Q;ENSP00000433276:R81Q;ENSP00000433334:R81Q;ENSP00000437327:R34Q;ENSP00000403518:R34Q;ENSP00000434017:R34Q;ENSP00000435789:R81Q;ENSP00000432041:R135Q;ENSP00000431600:R81Q;ENSP00000434202:R57Q	ENSP00000351527:R135Q	R	+	2	0	CTNND1	57319761	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.642000	0.83385	2.750000	0.94351	0.467000	0.42956	CGG		0.507	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		5	18	0	0	0	1	0	5	18				
SERPINB4	6318	broad.mit.edu	37	18	61309104	61309104	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61309104C>T	ENST00000341074.5	-	4	356	c.241G>A	c.(241-243)Gtt>Att	p.V81I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	81					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTGATGAACATTTCCTGAC	0.388																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(241-243)Gtt>Att		serpin peptidase inhibitor, clade B (ovalbumin), member 4							148.0	134.0	139.0					18																	61309104		2203	4298	6501	SO:0001583	missense	6318							g.chr18:61309104C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.241G>A	18.37:g.61309104C>T	ENSP00000343445:p.Val81Ile					SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	p.V81I	NM_002974.2	NP_002965.1					4	356	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.241G>A	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.357|8.357	0.832306|0.832306	0.16820|0.16820	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000413673|ENST00000341074;ENST00000356424	.|D;D	.|0.84223	.|-1.82;-1.82	3.76|3.76	2.88|2.88	0.33553|0.33553	.|Serpin domain (3);	.|0.241343	.|0.22194	.|N	.|0.063329	D|D	0.82273|0.82273	0.5001|0.5001	L|L	0.31526|0.31526	0.94|0.94	0.26252|0.26252	N|N	0.97871|0.97871	.|P;B	.|0.47545	.|0.897;0.038	.|P;B	.|0.60789	.|0.879;0.079	T|T	0.70912|0.70912	-0.4743|-0.4743	5|10	.|0.02654	.|T	.|1	.|.	10.827|10.827	0.46638|0.46638	0.0:0.8973:0.0:0.1027|0.0:0.8973:0.0:0.1027	.|.	.|81;81	.|P48594;Q9BYF7	.|SPB4_HUMAN;.	I|I	82|81	.|ENSP00000343445:V81I;ENSP00000348795:V81I	.|ENSP00000343445:V81I	M|V	-|-	3|1	0|0	SERPINB4|SERPINB4	59460084|59460084	0.000000|0.000000	0.05858|0.05858	0.365000|0.365000	0.25901|0.25901	0.904000|0.904000	0.53231|0.53231	-1.884000|-1.884000	0.01622|0.01622	2.098000|2.098000	0.63641|0.63641	0.603000|0.603000	0.83216|0.83216	ATG|GTT		0.388	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		6	82	0	0	0	1	0	6	82				
BRD1	23774	broad.mit.edu	37	22	50217457	50217457	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:50217457T>C	ENST00000216267.8	-	1	995	c.509A>G	c.(508-510)aAt>aGt	p.N170S	BRD1_ENST00000404034.1_Missense_Mutation_p.N170S|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000459821.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	170					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGCTTCTCATTGACGATCTC	0.567																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(508-510)aAt>aGt		bromodomain containing 1							97.0	74.0	81.0					22																	50217457		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217457T>C	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.509A>G	22.37:g.50217457T>C	ENSP00000216267:p.Asn170Ser					BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000404034.1_Missense_Mutation_p.N170S	p.N170S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	995	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	170					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.509A>G	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524808	0.64747	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.72	4.72	0.59763	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.82313	-0.0519	9	.	.	.	.	14.1924	0.65646	0.0:0.0:0.0:1.0	.	170;170;170	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	S	170	ENSP00000216267:N170S;ENSP00000384076:N170S;ENSP00000385858:N170S;ENSP00000410042:N170S	.	N	-	2	0	BRD1	48603461	1.000000	0.71417	0.998000	0.56505	0.678000	0.39670	7.528000	0.81941	1.756000	0.51951	0.372000	0.22366	AAT		0.567	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		23	30	0	0	0	1	0	23	30				
SLC36A2	153201	broad.mit.edu	37	5	150714964	150714964	+	Silent	SNP	A	A	G			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:150714964A>G	ENST00000335244.4	-	6	799	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	SLC36A2_ENST00000521967.1_Silent_p.L224L|SLC36A2_ENST00000450886.1_5'Flank	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	224					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	AAGATGGTCAAGATCCTGAGG	0.552																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(670-672)Ttg>Ctg		solute carrier family 36 (proton/amino acid symporter), member 2							179.0	159.0	166.0					5																	150714964		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150714964A>G	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.670T>C	5.37:g.150714964A>G						SLC36A2_ENST00000521967.1_Silent_p.L224L	p.L224L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	799	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	224					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.670T>C	CCDS4315.1																																																																																				0.552	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			9	15	0	0	0	1	0	9	15				
ACACA	31	broad.mit.edu	37	17	35454875	35454875	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:35454875T>A	ENST00000394406.2	-	53	6689	c.6499A>T	c.(6499-6501)Aag>Tag	p.K2167*	ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000353139.5_Nonsense_Mutation_p.K2204*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2167	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTCAACTTGTTCTCCAAC	0.522																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(6610-6612)Aag>Tag		acetyl-CoA carboxylase alpha	Biotin(DB00121)						155.0	143.0	147.0					17																	35454875		2203	4300	6503	SO:0001587	stop_gained	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35454875T>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6499A>T	17.37:g.35454875T>A	ENSP00000377928:p.Lys2167*					ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.K2167*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*	p.K2204*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			53	7091	-		Breast(25;0.00157)|Ovarian(249;0.15)	2167					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Nonsense_Mutation	SNP	ENST00000394406.2	37	c.6610A>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	50	16.724232	0.99870	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2919	16.6288	0.85011	0.0:0.0:0.0:1.0	.	.	.	.	X	2204;2109;2167;2191;2089;866;293	.	ENSP00000335323:K2089X	K	-	1	0	ACACA	32528988	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.297000	0.72757	2.326000	0.78906	0.533000	0.62120	AAG		0.522	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		21	101	0	0	0	1	0	21	101				
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			2	4						2	4	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157516958	157516958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:157516958G>A	ENST00000361835.3	-	3	239	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	28	Ig-like C2-type 1.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGGAGGCTGGAGGAAAATA	0.537																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(82-84)Cag>Tag		Fc receptor-like 5							120.0	114.0	116.0					1																	157516958		2203	4300	6503	SO:0001587	stop_gained	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516958G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.82C>T	1.37:g.157516958G>A	ENSP00000354691:p.Gln28*					FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron	p.Q28*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	239	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	28			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Nonsense_Mutation	SNP	ENST00000361835.3	37	c.82C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307235	0.60305	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	.	.	.	5.01	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	8.9361	0.35700	0.0:0.1355:0.3096:0.5549	.	.	.	.	X	28	.	ENSP00000349434:Q28X	Q	-	1	0	FCRL5	155783582	0.001000	0.12720	0.002000	0.10522	0.108000	0.19459	-0.772000	0.04694	-0.138000	0.11434	-0.188000	0.12872	CAG		0.537	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		28	96	0	0	0	1	0	28	96				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	3						3	3	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74306348	74306349	+	RNA	INS	-	-	GCC			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:74306348_74306349insGCC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCCAGCACCCGGCCGCCGCGCG	0.752																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74306348_74306349insGCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74306352_74306354dupGCC										P0CL84	ST3L2_HUMAN			0	296	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	INS	ENST00000423186.1	37																																																																																						0.752	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		4	4						4	4	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711145	6711147	+	In_Frame_Del	DEL	TCC	TCC	-	rs71584865|rs1639122	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:6711145_6711147delTCC	ENST00000357008.2	-	4	580_582	c.417_419delGGA	c.(415-420)gaggat>gat	p.E139del	CHD4_ENST00000309577.6_In_Frame_Del_p.E139del|CHD4_ENST00000544040.1_In_Frame_Del_p.E132del|CHD4_ENST00000544484.1_In_Frame_Del_p.E136del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	139	Poly-Asp.		E -> D (in dbSNP:rs1639122). {ECO:0000269|PubMed:7575689}.		ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCATCATCAtcctcctcctcct	0.453																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(415-420)gat>ga		chromodomain helicase DNA binding protein 4																																				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711145_6711147delTCC	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.417_419delGGA	12.37:g.6711154_6711156delTCC	ENSP00000349508:p.Glu139del					CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del	p.ED139del			Q14839	CHD4_HUMAN			4	580_582	-			139		E -> D (in dbSNP:rs1639122).	Poly-Asp.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.417_419delGGA	CCDS8552.1																																																																																				0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	151						7	151	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641596	106641597	+	RNA	INS	-	-	C			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr14:106641596_106641597insC	ENST00000390605.2	-	0	375_376									immunoglobulin heavy variable 1-18																		TGTCGTCAGATCTCAGGCTCCT	0.53																																						ENST00000390605.2																			0																																																			0							g.chr14:106641596_106641597insC	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641597_106641597dupC														0	375_376	-									RNA	INS	ENST00000390605.2	37																																																																																						0.530	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		64	191						64	191	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs397516437|rs28934573		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:7577558_7577566delGGAACTGTT	ENST00000269305.4	-	7	904_912	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_ENST00000420246.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCCATGCAGGAACTGTTACACATGTAG	0.574		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		372	Substitution - Missense(261)|Deletion - Frameshift(37)|Insertion - Frameshift(26)|Deletion - In frame(20)|Whole gene deletion(8)|Substitution - coding silent(6)|Insertion - In frame(5)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(1)	large_intestine(39)|ovary(36)|haematopoietic_and_lymphoid_tissue(35)|urinary_tract(34)|breast(32)|lung(30)|endometrium(25)|oesophagus(23)|central_nervous_system(21)|biliary_tract(17)|upper_aerodigestive_tract(16)|stomach(12)|skin(10)|soft_tissue(7)|liver(7)|bone(7)|kidney(6)|pancreas(5)|thyroid(3)|prostate(3)|cervix(2)|eye(2)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD984149|CM920673|CM942121	TP53	D|M	rs28934573	c.(715-723)del	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577558_7577566delGGAACTGTT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715_723delAACAGTTCC	17.37:g.7577558_7577566delGGAACTGTT	ENSP00000269305:p.Asn239_Ser241del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_In_Frame_Del_p.NSS239del|TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del	p.NSS239del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847_855	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.715_723delAACAGTTCC	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	14						25	14	---	---	---	---
ANKRD24	170961	broad.mit.edu	37	19	4199916	4199916	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:4199916delG	ENST00000600132.1	+	4	444	c.168delG	c.(166-168)gtgfs	p.V56fs	ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs|ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	56										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACAAGCCGTGGAAAACAACG	0.662																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(166-168)gtfs		ankyrin repeat domain 24							17.0	22.0	20.0					19																	4199916		2067	4187	6254	SO:0001589	frameshift_variant	170961							g.chr19:4199916delG	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.168delG	19.37:g.4199916delG	ENSP00000471252:p.Val56fs					ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs	p.V56fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	4	444	+			56					O75268|O95781	Frame_Shift_Del	DEL	ENST00000600132.1	37	c.168delG	CCDS45925.1																																																																																				0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		2	4						2	4	---	---	---	---
SMPD4P1	645280	broad.mit.edu	37	22	20975830	20975830	+	RNA	DEL	T	T	-			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:20975830delT	ENST00000443839.1	-	0	1893									sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1																		CTTCCCTACCTTTAGTGTGTT	0.587																																						ENST00000443839.1																			0																																																			0							g.chr22:20975830delT			22q11.21	2011-03-22			ENSG00000223553	ENSG00000223553			39673	pseudogene	pseudogene							Standard	NG_028286		Approved				OTTHUMG00000030245		22.37:g.20975830delT														0	1893	-									RNA	DEL	ENST00000443839.1	37																																																																																						0.587	SMPD4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319965.1			2	4						2	4	---	---	---	---
