#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VSIG8	391123	broad.mit.edu	37	1	159827930	159827930	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:159827930C>T	ENST00000368100.1	-	3	515	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	RP11-190A12.7_ENST00000544342.1_Intron|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	127	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CTTCTTCACCCGGCACTCATA	0.562																																						uc001fuh.2		NA																	0				central_nervous_system(1)	1						c.(379-381)CGG>CAG		V-set and immunoglobulin domain containing 8							102.0	87.0	92.0					1																	159827930		2203	4300	6503	SO:0001583	missense	391123					integral to membrane		g.chr1:159827930C>T		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.380G>A	1.37:g.159827930C>T	ENSP00000357080:p.Arg127Gln					C1orf204_uc001fug.1_5'Flank	p.R127Q	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			3	516	-	all_hematologic(112;0.0597)		127			Extracellular (Potential).|Ig-like V-type 1.		Q5VU14	Missense_Mutation	SNP	ENST00000368100.1	37	c.380G>A	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525941	0.85600	.	.	ENSG00000243284	ENST00000368100	T	0.64085	-0.08	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.115116	0.56097	D	0.000021	T	0.47377	0.1442	N	0.03608	-0.345	0.35804	D	0.823328	D	0.89917	1.0	D	0.85130	0.997	T	0.58781	-0.7576	10	0.30078	T	0.28	.	14.674	0.68964	0.0:1.0:0.0:0.0	.	127	Q5VU13	VSIG8_HUMAN	Q	127	ENSP00000357080:R127Q	ENSP00000357080:R127Q	R	-	2	0	VSIG8	158094554	0.974000	0.33945	1.000000	0.80357	0.932000	0.56968	0.995000	0.29706	2.526000	0.85167	0.561000	0.74099	CGG		0.562	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661		7	34	0	0	0	0	7	34				
PTPRC	5788	broad.mit.edu	37	1	198723447	198723447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:198723447G>T	ENST00000367376.2	+	32	3724	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	PTPRC_ENST00000442510.2_Nonsense_Mutation_p.E1187*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.E1024*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.E1137*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.E1026*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1185	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAATCTCTTAGAAAGTGCGGA	0.383																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3553-3555)GAA>TAA		protein tyrosine phosphatase, receptor type, C							122.0	123.0	123.0					1																	198723447		2203	4300	6503	SO:0001587	stop_gained	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198723447G>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3553G>T	1.37:g.198723447G>T	ENSP00000356346:p.Glu1185*					PTPRC_uc001gus.1_Nonsense_Mutation_p.E1137*|PTPRC_uc001gut.1_Nonsense_Mutation_p.E1024*	p.E1185*	NM_002838	NP_002829	P08575	PTPRC_HUMAN			32	3733	+			1185			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37	c.3553G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.181433	0.99092	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	5.8	5.8	0.92144	.	0.280379	0.25503	N	0.030226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3145	0.90215	0.0:0.0:1.0:0.0	.	.	.	.	X	1187;1137;1185;1024	.	ENSP00000306782:E1024X	E	+	1	0	PTPRC	196990070	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.303000	0.78871	2.760000	0.94817	0.644000	0.83932	GAA		0.383	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				13	31	1	0	0.00136819	0.00151071	13	31				
DISP1	84976	broad.mit.edu	37	1	223177009	223177009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr1:223177009C>A	ENST00000284476.6	+	8	2434	c.2270C>A	c.(2269-2271)tCg>tAg	p.S757*		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	757					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S757W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGTTCCGGTCGTCCCATCCT	0.463																																						uc001hnu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2269-2271)TCG>TAG		dispatched A							94.0	92.0	93.0					1																	223177009		2203	4300	6503	SO:0001587	stop_gained	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177009C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2270C>A	1.37:g.223177009C>A	ENSP00000284476:p.Ser757*						p.S757*	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2417	+			757					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Nonsense_Mutation	SNP	ENST00000284476.6	37	c.2270C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	39	7.772806	0.98480	.	.	ENSG00000154309	ENST00000284476	.	.	.	5.43	5.43	0.79202	.	0.271361	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5182	19.5999	0.95557	0.0:1.0:0.0:0.0	.	.	.	.	X	757	.	ENSP00000284476:S757X	S	+	2	0	DISP1	221243632	1.000000	0.71417	0.105000	0.21289	0.989000	0.77384	7.776000	0.85560	2.700000	0.92200	0.655000	0.94253	TCG		0.463	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		12	67	1	0	1.09e-07	1.3e-07	12	67				
KIAA1217	56243	broad.mit.edu	37	10	24834796	24834796	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr10:24834796C>T	ENST00000376454.3	+	21	5405	c.5375C>T	c.(5374-5376)cCt>cTt	p.P1792L	KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1113L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1223L|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1198L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1792					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						GACTTTAAGCCTACTTCCCCC	0.493																																						uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(5374-5376)CCT>CTT		sickle tail isoform 1							136.0	132.0	133.0					10																	24834796		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24834796C>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.5375C>T	10.37:g.24834796C>T	ENSP00000365637:p.Pro1792Leu					KIAA1217_uc001irs.2_Missense_Mutation_p.P1113L|KIAA1217_uc001irt.3_Missense_Mutation_p.P1158L|KIAA1217_uc010qcy.1_Missense_Mutation_p.P1223L|KIAA1217_uc010qcz.1_Missense_Mutation_p.P1198L|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	p.P1792L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			21	5778	+			1792					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.5375C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240762	0.79912	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.30714	1.52;1.56;1.98;1.54	5.67	5.67	0.87782	.	0.117914	0.56097	D	0.000023	T	0.52025	0.1709	L	0.47716	1.5	0.38761	D	0.954324	D;P;D;D	0.89917	1.0;0.731;1.0;1.0	D;B;D;D	0.87578	0.998;0.13;0.998;0.998	T	0.51733	-0.8668	10	0.56958	D	0.05	.	19.7685	0.96352	0.0:1.0:0.0:0.0	.	1198;1223;1792;1193	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	L	1113;1198;1792;1223;1381	ENSP00000365645:P1113L;ENSP00000392625:P1198L;ENSP00000365637:P1792L;ENSP00000365635:P1223L	ENSP00000365635:P1223L	P	+	2	0	KIAA1217	24874802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.375000	0.79646	2.679000	0.91253	0.650000	0.86243	CCT		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		14	107	0	0	0	0	14	107				
TDRD1	56165	broad.mit.edu	37	10	115962045	115962045	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr10:115962045G>A	ENST00000369280.1	+	6	1144	c.684G>A	c.(682-684)gaG>gaA	p.E228E	TDRD1_ENST00000369281.2_Silent_p.E228E|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Silent_p.E228E|TDRD1_ENST00000369282.1_Silent_p.E228E			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGGATGTGGAGGTAAACAATA	0.264																																						uc001lbg.1		NA																	0					0						c.(682-684)GAG>GAA		tudor domain containing 1							85.0	92.0	90.0					10																	115962045		2202	4300	6502	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115962045G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.684G>A	10.37:g.115962045G>A						TDRD1_uc001lbf.2_Silent_p.E219E|TDRD1_uc001lbh.1_Silent_p.E219E|TDRD1_uc001lbi.1_Silent_p.E219E|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank	p.E228E	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	6	837	+		Colorectal(252;0.172)|Breast(234;0.188)	228					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.684G>A																																																																																					0.264	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			11	21	0	0	0	0	11	21				
IPO7	10527	broad.mit.edu	37	11	9445348	9445348	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:9445348C>A	ENST00000379719.3	+	10	1208	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	356					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.P356S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGTTATTTTTCCATTGATGTG	0.308																																						uc001mho.2		NA																	1	Substitution - Missense(1)		NS(1)	lung(1)|breast(1)	2						c.(1066-1068)CCA>ACA		importin 7							140.0	133.0	135.0					11																	9445348		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9445348C>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1066C>A	11.37:g.9445348C>A	ENSP00000369042:p.Pro356Thr						p.P356T	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	10	1208	+			356					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1066C>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881821	0.72294	.	.	ENSG00000205339	ENST00000379719	T	0.68624	-0.34	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.91612	3.225	0.80722	D	1	B	0.27700	0.186	B	0.37833	0.259	T	0.81446	-0.0929	10	0.72032	D	0.01	.	19.0378	0.92986	0.0:1.0:0.0:0.0	.	356	O95373	IPO7_HUMAN	T	356	ENSP00000369042:P356T	ENSP00000369042:P356T	P	+	1	0	IPO7	9401924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.790000	0.85794	2.496000	0.84212	0.563000	0.77884	CCA		0.308	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		13	45	1	0	4.38e-07	5.16e-07	13	45				
OR5M8	219484	broad.mit.edu	37	11	56258616	56258616	+	Silent	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:56258616A>G	ENST00000327216.2	-	1	255	c.231T>C	c.(229-231)acT>acC	p.T77T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCATCTTTGGAGTCACATTGG	0.468																																						uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(229-231)ACT>ACC		olfactory receptor, family 5, subfamily M,							84.0	80.0	81.0					11																	56258616		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258616A>G	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.231T>C	11.37:g.56258616A>G							p.T77T	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	231	-	Esophageal squamous(21;0.00352)		77			Extracellular (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.231T>C	CCDS31533.1																																																																																				0.468	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		8	89	0	0	0	0	8	89				
OR5M8	219484	broad.mit.edu	37	11	56258645	56258645	+	Missense_Mutation	SNP	C	C	G	rs550927900		TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr11:56258645C>G	ENST00000327216.2	-	1	226	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CACAGATCCACGAAGGATAAG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		21029	0.001		0.0	False		,,,				2504	0.0					uc001nix.1		NA																	0				central_nervous_system(1)	1						c.(202-204)GTG>CTG		olfactory receptor, family 5, subfamily M,							78.0	76.0	76.0					11																	56258645		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258645C>G	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.202G>C	11.37:g.56258645C>G	ENSP00000323354:p.Val68Leu						p.V68L	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	202	-	Esophageal squamous(21;0.00352)		68			Helical; Name=2; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.202G>C	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	5.155	0.214274	0.09810	.	.	ENSG00000181371	ENST00000327216	T	0.00832	5.64	4.13	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.293061	0.18206	U	0.148321	T	0.00784	0.0026	N	0.21097	0.63	0.09310	N	1	B	0.20780	0.048	B	0.20384	0.029	T	0.48670	-0.9015	10	0.40728	T	0.16	-14.2657	5.072	0.14611	0.3663:0.5314:0.0:0.1023	.	68	Q8NGP6	OR5M8_HUMAN	L	68	ENSP00000323354:V68L	ENSP00000323354:V68L	V	-	1	0	OR5M8	56015221	0.000000	0.05858	0.069000	0.20011	0.049000	0.14656	-2.582000	0.00905	0.313000	0.23062	0.532000	0.56150	GTG		0.493	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		8	100	0	0	0	0	8	100				
PRB4	5545	broad.mit.edu	37	12	11461743	11461743	+	Silent	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:11461743T>C	ENST00000535904.1	-	3	207	c.174A>G	c.(172-174)caA>caG	p.Q58Q	PRB4_ENST00000279575.1_Silent_p.Q58Q|PRB4_ENST00000445719.2_Silent_p.Q58Q			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	79	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGGTGGTCCTTGTGGCTTTC	0.622										HNSCC(22;0.051)																												uc001qzf.1		NA																	0				ovary(1)	1						c.(172-174)CAA>CAG		proline-rich protein BstNI subfamily 4							205.0	221.0	216.0					12																	11461743		2200	4292	6492	SO:0001819	synonymous_variant	5545					extracellular region		g.chr12:11461743T>C		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.174A>G	12.37:g.11461743T>C		HNSCC(22;0.051)				PRB4_uc001qzt.2_Silent_p.Q58Q	p.Q58Q	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	208	-			58			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|2.		A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	c.174A>G	CCDS8641.1																																																																																				0.622	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		94	290	0	0	0	0	94	290				
GRIP1	23426	broad.mit.edu	37	12	66786267	66786267	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:66786267C>A	ENST00000398016.3	-	18	2197	c.2129G>T	c.(2128-2130)aGc>aTc	p.S710I	GRIP1_ENST00000286445.7_Missense_Mutation_p.S762I|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.S762I	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCTTGGGGCTCGATGCTGA	0.453																																						uc001stk.2		NA																	0				ovary(2)	2						c.(2128-2130)AGC>ATC		glutamate receptor interacting protein 1							107.0	105.0	106.0					12																	66786267		1915	4136	6051	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786267C>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2129G>T	12.37:g.66786267C>A	ENSP00000381098:p.Ser710Ile					GRIP1_uc010sta.1_Missense_Mutation_p.S654I|GRIP1_uc001stj.2_Missense_Mutation_p.S492I|GRIP1_uc001stl.1_Missense_Mutation_p.S602I|GRIP1_uc001stm.2_Missense_Mutation_p.S710I	p.S710I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	18	2370	-			762					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2129G>T	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.50|11.50	1.656567|1.656567	0.29425|0.29425	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.22134	.|1.97;1.98;1.98;1.98;2.06;2.07	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.093758	.|0.64402	.|D	.|0.000001	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999988|0.999988	.|B;B;B;B	.|0.20780	.|0.004;0.048;0.011;0.021	.|B;B;B;B	.|0.17979	.|0.007;0.02;0.007;0.017	T|T	0.03852|0.03852	-1.0998|-1.0998	5|9	.|.	.|.	.|.	-12.2993|-12.2993	18.2146|18.2146	0.89881|0.89881	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|710;762;710;762	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	S|I	577|710;762;762;710;654;602	.|ENSP00000381098:S710I;ENSP00000352780:S762I;ENSP00000286445:S762I;ENSP00000446047:S710I;ENSP00000446024:S654I;ENSP00000446011:S602I	.|.	A|S	-|-	1|2	0|0	GRIP1|GRIP1	65072534|65072534	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	3.588000|3.588000	0.53964|0.53964	2.622000|2.622000	0.88805|0.88805	0.462000|0.462000	0.41574|0.41574	GCC|AGC		0.453	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			13	99	1	0	9.31e-06	1.07e-05	13	99				
POLE	5426	broad.mit.edu	37	12	133215740	133215740	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:133215740G>A	ENST00000320574.5	-	40	5566	c.5523C>T	c.(5521-5523)ctC>ctT	p.L1841L	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Silent_p.L1814L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1841					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCATGTTGTGGAGTGTGCGGT	0.582								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5521-5523)CTC>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							243.0	172.0	196.0					12																	133215740		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133215740G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5523C>T	12.37:g.133215740G>A			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1601	POLE_uc001ukq.1_Silent_p.L51L|POLE_uc001ukr.1_Silent_p.L645L|POLE_uc010tbq.1_RNA	p.L1841L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	40	5567	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1841					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.5523C>T	CCDS9278.1																																																																																				0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		12	35	0	0	0	0	12	35				
DIAPH3	81624	broad.mit.edu	37	13	60384961	60384961	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr13:60384961G>A	ENST00000400324.4	-	25	3344	c.3124C>T	c.(3124-3126)Cgc>Tgc	p.R1042C	DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1031C|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1042C|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R996C|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R972C|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1042C|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1042					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTTGTTGGCGTTCGAGTCTT	0.323																																						uc001vht.2		NA																	0				ovary(2)	2						c.(3124-3126)CGC>TGC		diaphanous homolog 3 isoform a							173.0	159.0	163.0					13																	60384961		1799	4059	5858	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60384961G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3124C>T	13.37:g.60384961G>A	ENSP00000383178:p.Arg1042Cys					DIAPH3_uc001vhu.2_Missense_Mutation_p.R779C	p.R1042C	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	25	3343	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1042			Potential.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.3124C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811593	0.70797	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214	D;D;D;D;D;D	0.83163	-1.68;-1.68;-1.69;-1.66;-1.65;-1.67	5.37	5.37	0.77165	Actin-binding FH2/DRF autoregulatory (1);	0.114426	0.53938	D	0.000054	D	0.90604	0.7054	M	0.83118	2.625	0.46749	D	0.999184	D;D	0.89917	1.0;1.0	D;D	0.74023	0.975;0.982	D	0.91344	0.5099	10	0.87932	D	0	.	11.97	0.53058	0.0:0.0:0.8267:0.1733	.	779;1042	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	C	1042;1042;1031;996;972;1031;972;996;1042;779	ENSP00000383178:R1042C;ENSP00000383184:R1042C;ENSP00000367141:R1031C;ENSP00000383173:R972C;ENSP00000383174:R996C;ENSP00000267215:R1042C	ENSP00000267214:R779C	R	-	1	0	DIAPH3	59282962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.644000	0.54381	2.679000	0.91253	0.591000	0.81541	CGC		0.323	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		3	33	0	0	0	0	3	33				
NALCN	259232	broad.mit.edu	37	13	101714441	101714441	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr13:101714441C>T	ENST00000251127.6	-	41	4715	c.4634G>A	c.(4633-4635)cGg>cAg	p.R1545Q	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1545					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAGCTCTTCCGGATGTCCAC	0.542																																						uc001vox.1		NA																	0		p.R1545W(1)		ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4633-4635)CGG>CAG		voltage gated channel like 1							87.0	66.0	73.0					13																	101714441		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101714441C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4634G>A	13.37:g.101714441C>T	ENSP00000251127:p.Arg1545Gln						p.R1545Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			41	4823	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1545			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4634G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	36	5.834011	0.97003	.	.	ENSG00000102452	ENST00000251127	D	0.97870	-4.58	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.98248	0.9420	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.98858	1.0761	10	0.66056	D	0.02	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	1545	Q8IZF0	NALCN_HUMAN	Q	1545	ENSP00000251127:R1545Q	ENSP00000251127:R1545Q	R	-	2	0	NALCN	100512442	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	7.298000	0.78815	2.820000	0.97059	0.650000	0.86243	CGG		0.542	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		13	43	0	0	0	0	13	43				
TP53BP1	7158	broad.mit.edu	37	15	43705366	43705366	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:43705366G>A	ENST00000263801.3	-	24	5493	c.5241C>T	c.(5239-5241)agC>agT	p.S1747S	TP53BP1_ENST00000450115.2_Silent_p.S1750S|TP53BP1_ENST00000382039.3_Silent_p.S1702S|TP53BP1_ENST00000382044.4_Silent_p.S1752S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1747	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTTTGGAGCGGCTGGCCAACT	0.537								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(5239-5241)AGC>AGT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							104.0	84.0	90.0					15																	43705366		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43705366G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5241C>T	15.37:g.43705366G>A						TP53BP1_uc010udp.1_Silent_p.S1745S|TP53BP1_uc001zrq.3_Silent_p.S1750S|TP53BP1_uc001zrr.3_Silent_p.S1752S|TP53BP1_uc001zrp.2_Silent_p.S164S	p.S1747S	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	24	5389	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1747			BRCT 1.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.5241C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318980	0.23994	.	.	ENSG00000067369	ENST00000434595	.	.	.	6.03	4.14	0.48551	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55211	-0.8176	4	.	.	.	-4.0714	9.2728	0.37681	0.2901:0.0:0.7099:0.0	.	.	.	.	V	40	.	.	A	-	2	0	TP53BP1	41492658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.991000	0.29654	0.861000	0.35504	0.655000	0.94253	GCC		0.537	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			3	64	0	0	0	0	3	64				
MAP1A	4130	broad.mit.edu	37	15	43815758	43815758	+	Missense_Mutation	SNP	G	G	T	rs377353500		TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:43815758G>T	ENST00000300231.5	+	4	2537	c.2087G>T	c.(2086-2088)cGg>cTg	p.R696L	MAP1A_ENST00000382031.1_Missense_Mutation_p.R934L|MAP1A_ENST00000399453.1_Missense_Mutation_p.R696L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	696					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAAGGAGCCGGGAGGCTTTT	0.547																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(2086-2088)CGG>CTG		microtubule-associated protein 1A	Estramustine(DB01196)						28.0	28.0	28.0					15																	43815758		1849	4088	5937	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815758G>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.2087G>T	15.37:g.43815758G>T	ENSP00000300231:p.Arg696Leu						p.R696L	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2554	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	696					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2087G>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604720	0.03717	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01516	4.81;4.81;4.81	5.14	1.25	0.21368	.	0.470359	0.15814	N	0.243308	T	0.02047	0.0064	L	0.49640	1.575	0.09310	N	1	P	0.40302	0.712	B	0.34536	0.185	T	0.44636	-0.9315	10	0.49607	T	0.09	-5.0577	9.677	0.40047	0.4899:0.0:0.5101:0.0	.	696	P78559	MAP1A_HUMAN	L	934;696;696	ENSP00000371462:R934L;ENSP00000382380:R696L;ENSP00000300231:R696L	ENSP00000300231:R696L	R	+	2	0	MAP1A	41603050	0.835000	0.29415	0.007000	0.13788	0.201000	0.24016	1.330000	0.33781	0.077000	0.16863	-0.232000	0.12228	CGG		0.547	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		7	24	1	0	8.13e-05	9.23e-05	7	24				
DUOX1	53905	broad.mit.edu	37	15	45439652	45439652	+	Missense_Mutation	SNP	G	G	A	rs200102941		TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:45439652G>A	ENST00000321429.4	+	20	2751	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N	DUOX1_ENST00000389037.3_Missense_Mutation_p.D782N|DUOX1_ENST00000561166.1_Missense_Mutation_p.D428N	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	782					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAACCAGGCCGACGCAGGGAC	0.637																																						uc001zus.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(2344-2346)GAC>AAC		dual oxidase 1 precursor							22.0	22.0	22.0					15																	45439652		2197	4297	6494	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45439652G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2344G>A	15.37:g.45439652G>A	ENSP00000317997:p.Asp782Asn					DUOX1_uc001zut.1_Missense_Mutation_p.D782N|DUOX1_uc010bee.1_Missense_Mutation_p.D162N|DUOX1_uc001zuu.2_5'Flank	p.D782N	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	20	2690	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	782			Cytoplasmic (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2344G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014865	0.75161	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86366	-2.11;-2.11	4.85	4.85	0.62838	.	0.089188	0.85682	D	0.000000	D	0.91472	0.7308	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61328	0.887	D	0.91838	0.5481	10	0.59425	D	0.04	-21.0023	15.8422	0.78857	0.0:0.0:1.0:0.0	.	782	Q9NRD9	DUOX1_HUMAN	N	782	ENSP00000317997:D782N;ENSP00000373689:D782N	ENSP00000317997:D782N	D	+	1	0	DUOX1	43226944	1.000000	0.71417	0.452000	0.26994	0.259000	0.26198	9.064000	0.93933	2.660000	0.90430	0.655000	0.94253	GAC		0.637	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		3	19	0	0	0	0	3	19				
UNC13C	440279	broad.mit.edu	37	15	54542506	54542506	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:54542506G>A	ENST00000260323.11	+	7	3312	c.3312G>A	c.(3310-3312)acG>acA	p.T1104T	UNC13C_ENST00000537900.1_Silent_p.T1102T|UNC13C_ENST00000545554.1_Silent_p.T1104T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1104					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGTCTGGACGGCTACCACAC	0.493																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3310-3312)ACG>ACA		unc-13 homolog C							112.0	106.0	108.0					15																	54542506		2109	4266	6375	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542506G>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3312G>A	15.37:g.54542506G>A							p.T1104T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	6	3312	+			1104			Phorbol-ester/DAG-type.		Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.3312G>A	CCDS45264.1																																																																																				0.493	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		17	37	0	0	0	0	17	37				
POLG	5428	broad.mit.edu	37	15	89871966	89871966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr15:89871966G>A	ENST00000268124.5	-	5	1453	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	POLG_ENST00000442287.2_Nonsense_Mutation_p.R374*	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	374					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AACAGTTCTCGAGGCTCCTTC	0.567								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	0				ovary(1)|lung(1)	2	GRCh37	CM083031	POLG	M		c.(1120-1122)CGA>TGA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							103.0	109.0	107.0					15																	89871966		2200	4299	6499	SO:0001587	stop_gained	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89871966G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1120C>T	15.37:g.89871966G>A	ENSP00000268124:p.Arg374*					POLG_uc002bnr.3_Nonsense_Mutation_p.R374*	p.R374*	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		5	1402	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		374					Q8NFM2|Q92515	Nonsense_Mutation	SNP	ENST00000268124.5	37	c.1120C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	41	8.832307	0.98970	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	.	.	.	5.53	3.48	0.39840	.	0.048789	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.162	15.7653	0.78120	0.0:0.0:0.7417:0.2582	.	.	.	.	X	374	.	ENSP00000268124:R374X	R	-	1	2	POLG	87672970	1.000000	0.71417	0.249000	0.24280	0.951000	0.60555	4.915000	0.63355	1.531000	0.49152	0.655000	0.94253	CGA		0.567	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		8	187	0	0	0	0	8	187				
SEC14L5	9717	broad.mit.edu	37	16	5058627	5058627	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:5058627G>T	ENST00000251170.7	+	14	1958	c.1778G>T	c.(1777-1779)tGc>tTc	p.C593F	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	593	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCCTTGTCTGCCGGGAGGGG	0.637																																						uc002cye.2		NA																	0					0						c.(1777-1779)TGC>TTC		SEC14-like 5							41.0	47.0	45.0					16																	5058627		1947	4126	6073	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058627G>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1778G>T	16.37:g.5058627G>T	ENSP00000251170:p.Cys593Phe						p.C593F	NM_014692	NP_055507	O43304	S14L5_HUMAN			14	1958	+			593			GOLD.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1778G>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	g	18.64	3.667989	0.67814	.	.	ENSG00000103184	ENST00000251170	T	0.41758	0.99	4.75	4.75	0.60458	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.56769	1.78	0.80722	D	1	P	0.49783	0.928	P	0.49387	0.609	T	0.53215	-0.8470	10	0.48119	T	0.1	-3.6948	17.9259	0.88983	0.0:0.0:1.0:0.0	.	593	O43304	S14L5_HUMAN	F	593	ENSP00000251170:C593F	ENSP00000251170:C593F	C	+	2	0	SEC14L5	4998628	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.148000	0.94652	2.474000	0.83562	0.556000	0.70494	TGC		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			22	83	1	0	1.97e-08	2.39e-08	22	83				
CNOT1	23019	broad.mit.edu	37	16	58633241	58633241	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:58633241T>C	ENST00000317147.5	-	2	333	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CNOT1_ENST00000441024.2_Start_Codon_SNP_p.M1V|CNOT1_ENST00000569240.1_Start_Codon_SNP_p.M1V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAAGATTCATTGCTGGTTGG	0.498																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1-3)ATG>GTG		CCR4-NOT transcription complex, subunit 1							64.0	63.0	63.0					16																	58633241		2198	4300	6498	SO:0001582	initiator_codon_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58633241T>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1A>G	16.37:g.58633241T>C	ENSP00000320949:p.Met1Val					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M1V|CNOT1_uc002enx.2_Missense_Mutation_p.M1V|CNOT1_uc002enz.1_5'UTR	p.M1V	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	2	294	-			1					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1A>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219673	0.58560	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.22134	1.97;1.97	5.46	5.46	0.80206	.	0.038230	0.85682	D	0.000000	T	0.35682	0.0940	.	.	.	0.80722	D	1	B;P;D	0.56287	0.452;0.915;0.975	P;P;P	0.53062	0.557;0.543;0.717	T	0.05649	-1.0872	8	.	.	.	-2.63	15.5431	0.76070	0.0:0.0:0.0:1.0	.	1;1;1	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	1	ENSP00000320949:M1V;ENSP00000413113:M1V	.	M	-	1	0	CNOT1	57190742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.017000	0.88712	2.065000	0.61736	0.455000	0.32223	ATG		0.498	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	Missense_Mutation	20	56	0	0	0	0	20	56				
AP1G1	164	broad.mit.edu	37	16	71784153	71784153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr16:71784153A>G	ENST00000299980.4	-	14	1808	c.1367T>C	c.(1366-1368)gTc>gCc	p.V456A	AP1G1_ENST00000564155.1_5'Flank|AP1G1_ENST00000569748.1_Missense_Mutation_p.V456A|AP1G1_ENST00000433195.2_Missense_Mutation_p.V479A|AP1G1_ENST00000393512.3_Missense_Mutation_p.V459A|AP1G1_ENST00000423132.2_Missense_Mutation_p.V459A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	456					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CAGGCGCTGGACAGTATAGGC	0.378																																						uc010cgg.2		NA																	0				ovary(2)	2						c.(1366-1368)GTC>GCC		adaptor-related protein complex 1, gamma 1							155.0	154.0	155.0					16																	71784153		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71784153A>G	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1367T>C	16.37:g.71784153A>G	ENSP00000299980:p.Val456Ala					AP1G1_uc002fba.2_Missense_Mutation_p.V459A|AP1G1_uc002fbb.2_Missense_Mutation_p.V479A|AP1G1_uc002faz.2_5'Flank	p.V456A	NM_001128	NP_001119	O43747	AP1G1_HUMAN			14	1681	-		Ovarian(137;0.125)	456					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1367T>C	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668236	0.67814	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.09	5.09	0.68999	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.31420	0.93	0.80722	D	1	B;B;P	0.35401	0.2;0.339;0.499	B;B;B	0.40009	0.316;0.316;0.132	T	0.02391	-1.1166	10	0.06757	T	0.87	-9.7959	14.8488	0.70281	1.0:0.0:0.0:0.0	.	456;479;459	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	A	456;459;459;479;541	ENSP00000299980:V456A;ENSP00000377148:V459A;ENSP00000409153:V459A;ENSP00000403259:V479A	ENSP00000299980:V456A	V	-	2	0	AP1G1	70341654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.917000	0.92751	1.916000	0.55485	0.379000	0.24179	GTC		0.378	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			19	157	0	0	0	0	19	157				
DSC2	1824	broad.mit.edu	37	18	28651727	28651727	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr18:28651727C>T	ENST00000280904.6	-	13	2412	c.1969G>A	c.(1969-1971)Ggc>Agc	p.G657S	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Missense_Mutation_p.G657S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	657	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTAGACATGCCAAGTCTATCT	0.408																																						uc002kwl.3		NA																	0				ovary(2)|skin(1)	3						c.(1969-1971)GGC>AGC		desmocollin 2 isoform Dsc2a preproprotein							124.0	100.0	108.0					18																	28651727		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651727C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1969G>A	18.37:g.28651727C>T	ENSP00000280904:p.Gly657Ser					DSC2_uc002kwk.3_Missense_Mutation_p.G657S	p.G657S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2423	-			657			Extracellular (Potential).|Cadherin 5.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1969G>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	32	5.116001	0.94339	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.61510	0.1;0.1	6.16	6.16	0.99307	Cadherin (2);Cadherin-like (1);	0.000000	0.33023	N	0.005370	T	0.77418	0.4127	M	0.70903	2.155	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77557	0.978;0.99	T	0.76236	-0.3033	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	657;657	Q02487;Q02487-2	DSC2_HUMAN;.	S	657;657;423;670	ENSP00000251081:G657S;ENSP00000280904:G657S	ENSP00000251081:G657S	G	-	1	0	DSC2	26905725	0.978000	0.34361	0.611000	0.29010	0.024000	0.10985	5.055000	0.64282	2.937000	0.99478	0.650000	0.86243	GGC		0.408	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		9	16	0	0	0	0	9	16				
DTNA	1837	broad.mit.edu	37	18	32443990	32443990	+	Silent	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr18:32443990A>G	ENST00000399113.3	+	16	1626	c.1626A>G	c.(1624-1626)ctA>ctG	p.L542L	DTNA_ENST00000595022.1_Silent_p.L482L|DTNA_ENST00000591182.1_Silent_p.L190L|DTNA_ENST00000556414.3_Silent_p.L194L|DTNA_ENST00000598334.1_Silent_p.L482L|DTNA_ENST00000444659.1_Silent_p.L542L|DTNA_ENST00000598774.1_Silent_p.L485L|DTNA_ENST00000269191.6_Silent_p.L542L|DTNA_ENST00000399097.3_Silent_p.L190L|DTNA_ENST00000597674.1_Silent_p.L164L|DTNA_ENST00000599844.1_Silent_p.*163*|DTNA_ENST00000597599.1_Silent_p.L482L|DTNA_ENST00000348997.5_Silent_p.L539L|DTNA_ENST00000269190.7_Silent_p.L543L|DTNA_ENST00000598142.1_Silent_p.L485L|DTNA_ENST00000399121.5_Silent_p.L482L|DTNA_ENST00000269192.7_Silent_p.L251L|DTNA_ENST00000283365.9_Silent_p.L485L|DTNA_ENST00000596745.1_Silent_p.L292L|DTNA_ENST00000601125.1_Silent_p.L164L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	542					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GGAGAGAGCTAATGGTCCAGT	0.458																																						uc010dmn.1		NA																	0					0						c.(1624-1626)CTA>CTG		dystrobrevin alpha isoform 1							74.0	76.0	76.0					18																	32443990		2203	4299	6502	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32443990A>G	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1626A>G	18.37:g.32443990A>G						DTNA_uc010xbx.1_Silent_p.L292L|DTNA_uc002kxv.3_Silent_p.L485L|DTNA_uc002kxw.2_Silent_p.L485L|DTNA_uc010dmj.2_Silent_p.L482L|DTNA_uc002kxz.2_Silent_p.L482L|DTNA_uc002kxy.2_Silent_p.L482L|DTNA_uc010dml.2_Silent_p.L482L|DTNA_uc002kyb.3_Silent_p.L539L|DTNA_uc010dmm.2_Silent_p.L542L|DTNA_uc010xby.1_Silent_p.L232L|DTNA_uc010dmo.2_Silent_p.*163*|DTNA_uc002kyd.3_Silent_p.L164L|DTNA_uc010xbz.1_Silent_p.L251L|DTNA_uc010xca.1_Silent_p.L194L|DTNA_uc002kye.2_Silent_p.L190L	p.L542L	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			16	1627	+			542			Potential.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1626A>G	CCDS59311.1																																																																																				0.458	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		7	8	0	0	0	0	7	8				
ATP8B3	148229	broad.mit.edu	37	19	1784856	1784856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:1784856G>A	ENST00000310127.6	-	28	3860	c.3622C>T	c.(3622-3624)Cga>Tga	p.R1208*	ATP8B3_ENST00000539485.1_Nonsense_Mutation_p.R1218*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.R1171*	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1208					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATGACTCGGAGGGCCAGG	0.622																																						uc002ltw.2		NA																	0					0						c.(3622-3624)CGA>TGA		ATPase, class I, type 8B, member 3							58.0	62.0	61.0					19																	1784856		2149	4259	6408	SO:0001587	stop_gained	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1784856G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3622C>T	19.37:g.1784856G>A	ENSP00000311336:p.Arg1208*					ATP8B3_uc002ltv.2_Nonsense_Mutation_p.R1171*|ATP8B3_uc002ltx.2_RNA	p.R1208*	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3856	-		Hepatocellular(1079;0.137)	1208			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Nonsense_Mutation	SNP	ENST00000310127.6	37	c.3622C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	41	9.095870	0.99064	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	.	.	.	4.72	4.72	0.59763	.	0.236824	0.36374	N	0.002639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8465	0.70264	0.0:0.0:1.0:0.0	.	.	.	.	X	1208;1218;1171	.	ENSP00000311336:R1208X	R	-	1	2	ATP8B3	1735856	0.778000	0.28640	0.036000	0.18154	0.006000	0.05464	4.850000	0.62889	2.167000	0.68274	0.561000	0.74099	CGA		0.622	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		3	23	0	0	0	0	3	23				
ZNF792	126375	broad.mit.edu	37	19	35450296	35450296	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:35450296G>T	ENST00000404801.1	-	4	849	c.463C>A	c.(463-465)Ccc>Acc	p.P155T	ZNF792_ENST00000605484.1_Missense_Mutation_p.P88T	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCTGCCTGGGATGTGTTGTC	0.507																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NA																	0					0						c.(463-465)CCC>ACC		zinc finger protein 792							212.0	204.0	206.0					19																	35450296		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450296G>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.463C>A	19.37:g.35450296G>T	ENSP00000385099:p.Pro155Thr						p.P155T	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	850	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		155					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.463C>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	2.825	-0.243932	0.05906	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.23147	1.92	3.16	-4.59	0.03400	Zinc finger, C2H2 (1);	.	.	.	.	T	0.07728	0.0194	N	0.05259	-0.085	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.36986	-0.9725	9	0.02654	T	1	.	5.3868	0.16222	0.5289:0.2435:0.2276:0.0	.	155	Q3KQV3	ZN792_HUMAN	T	155;9	ENSP00000385099:P155T	ENSP00000368487:P9T	P	-	1	0	ZNF792	40142136	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-1.411000	0.02478	-0.801000	0.04427	0.467000	0.42956	CCC		0.507	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		76	112	1	0	3e-28	3.79e-28	76	112				
CLIP3	25999	broad.mit.edu	37	19	36515479	36515479	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:36515479A>G	ENST00000360535.4	-	7	964	c.737T>C	c.(736-738)cTg>cCg	p.L246P	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.L246P	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	246					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGCCTTGTCCAGGGACATGTC	0.612																																						uc010eeq.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(736-738)CTG>CCG		CAP-GLY domain containing linker protein 3							71.0	64.0	66.0					19																	36515479		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36515479A>G	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.737T>C	19.37:g.36515479A>G	ENSP00000353732:p.Leu246Pro					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.L246P	p.L246P	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	1019	-	Esophageal squamous(110;0.162)		246					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.737T>C	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535548	0.64972	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.73681	-0.77	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	D	0.83603	0.5290	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.83359	0.0001	10	0.42905	T	0.14	-6.2706	14.2314	0.65895	1.0:0.0:0.0:0.0	.	246	Q96DZ5	CLIP3_HUMAN	P	246;128;222	ENSP00000353732:L246P	ENSP00000353732:L246P	L	-	2	0	CLIP3	41207319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	2.251000	0.74343	0.482000	0.46254	CTG		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		3	59	0	0	0	0	3	59				
CIC	23152	broad.mit.edu	37	19	42793503	42793503	+	Silent	SNP	G	G	A	rs200166534		TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:42793503G>A	ENST00000575354.2	+	8	1345	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	CIC_ENST00000572681.2_Silent_p.T1344T|CIC_ENST00000160740.3_Silent_p.T435T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGACATGACGAGTGATGAGG	0.642			"""Mis, F, S"""		oligodendroglioma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18071	0.0		0.0	False		,,,				2504	0.0					uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(1303-1305)ACG>ACA		capicua homolog		G		0,4406		0,0,2203	67.0	53.0	58.0		1305	-1.7	1.0	19		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CIC	NM_015125.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		435/1609	42793503	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793503G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1305G>A	19.37:g.42793503G>A							p.T435T	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			8	1345	+		Prostate(69;0.00682)	435					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.1305G>A	CCDS12601.1																																																																																				0.642	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	22	0	0	0	0	9	22				
ZNF112	7771	broad.mit.edu	37	19	44832521	44832521	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:44832521G>T	ENST00000337401.4	-	5	1895	c.1807C>A	c.(1807-1809)Cac>Aac	p.H603N	ZNF112_ENST00000536500.1_Missense_Mutation_p.H620N|ZNF112_ENST00000354340.4_Missense_Mutation_p.H597N	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCTCCAGTGTGAACTCTCTGA	0.478																																						uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(1807-1809)CAC>AAC		zinc finger protein 228 isoform 1							147.0	144.0	145.0					19																	44832521		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832521G>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1807C>A	19.37:g.44832521G>T	ENSP00000337081:p.His603Asn					ZFP112_uc002ozc.3_Missense_Mutation_p.H597N|ZFP112_uc010xwy.1_Missense_Mutation_p.H620N|ZFP112_uc010xwz.1_Missense_Mutation_p.H602N	p.H603N	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	1920	-			603			C2H2-type 7.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1807C>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169645	0.78452	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.67345	-0.26;-0.26;-0.26	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.003000	D	0.86957	0.6058	H	0.94503	3.545	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90717	0.4632	10	0.87932	D	0	-22.9728	17.4332	0.87544	0.0:0.0:1.0:0.0	.	602;620;603	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	N	603;603;597;620;602	ENSP00000337081:H603N;ENSP00000346305:H597N;ENSP00000441990:H620N	ENSP00000253426:H602N	H	-	1	0	ZNF285	49524361	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.324000	0.96373	2.484000	0.83849	0.655000	0.94253	CAC		0.478	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		25	111	1	0	2.8e-10	3.45e-10	25	111				
ZNF473	25888	broad.mit.edu	37	19	50549981	50549981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr19:50549981C>T	ENST00000595661.1	+	6	2776	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q749*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q761*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q761*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	761					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TTATGTTTGTCAGGAATGCGG	0.522											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2281-2283)CAG>TAG		zinc finger protein 473							79.0	80.0	80.0					19																	50549981		2203	4300	6503	SO:0001587	stop_gained	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549981C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2281C>T	19.37:g.50549981C>T	ENSP00000472808:p.Gln761*		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_uc002prm.2_Nonsense_Mutation_p.Q761*|ZNF473_uc010ybo.1_Nonsense_Mutation_p.Q749*	p.Q761*	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2518	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	761			C2H2-type 17.		A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	37	c.2281C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	39	7.728660	0.98456	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.34	2.17	0.27698	.	0.611213	0.13601	N	0.375867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3948	6.5239	0.22291	0.3751:0.4561:0.1688:0.0	.	.	.	.	X	761;761;749	.	ENSP00000270617:Q761X	Q	+	1	0	ZNF473	55241793	0.000000	0.05858	0.943000	0.38184	0.776000	0.43924	-2.189000	0.01248	0.705000	0.31890	0.650000	0.86243	CAG		0.522	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		11	84	0	0	0	0	11	84				
SRSF7	6432	broad.mit.edu	37	2	38976812	38976812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:38976812G>A	ENST00000313117.6	-	3	482	c.245C>T	c.(244-246)tCg>tTg	p.S82L	GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000409276.1_Missense_Mutation_p.S82L|SRSF7_ENST00000446327.2_Missense_Mutation_p.S82L	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	82	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CATGCCTGTCGATAGTTCAAC	0.393																																						uc002rqz.2		NA																	0					0						c.(244-246)TCG>TTG		splicing factor, arginine/serine-rich 7							84.0	78.0	80.0					2																	38976812		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38976812G>A	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.245C>T	2.37:g.38976812G>A	ENSP00000325905:p.Ser82Leu					SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.S82L|GEMIN6_uc002rrb.2_5'Flank	p.S82L	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN			3	483	-		all_hematologic(82;0.248)	82			RRM.		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.245C>T	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044965	0.93685	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.75367	-0.93;-0.93;-0.93	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	D	0.000013	D	0.84147	0.5408	M	0.63169	1.94	0.80722	D	1	D;D	0.71674	0.998;0.99	P;P	0.60473	0.875;0.849	D	0.84609	0.0677	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	82;82	G5E9M3;Q16629	.;SRSF7_HUMAN	L	82	ENSP00000325905:S82L;ENSP00000402264:S82L;ENSP00000386806:S82L	ENSP00000325905:S82L	S	-	2	0	SRSF7	38830316	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.564000	0.98151	2.805000	0.96524	0.655000	0.94253	TCG		0.393	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		19	41	0	0	0	0	19	41				
BUB1	699	broad.mit.edu	37	2	111399701	111399701	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:111399701A>C	ENST00000302759.6	-	20	2576	c.2458T>G	c.(2458-2460)Tta>Gta	p.L820V	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Missense_Mutation_p.L820V|BUB1_ENST00000535254.1_Missense_Mutation_p.L800V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTACCTTTAAAACAAATTTC	0.353																																						uc002tgc.2		NA																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(2458-2460)TTA>GTA		budding uninhibited by benzimidazoles 1							67.0	65.0	66.0					2																	111399701		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111399701A>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2458T>G	2.37:g.111399701A>C	ENSP00000302530:p.Leu820Val					BUB1_uc010yxh.1_Missense_Mutation_p.L800V|BUB1_uc010fkb.2_Missense_Mutation_p.L820V	p.L820V	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	20	2570	-		Ovarian(717;0.0822)	820			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.2458T>G	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490841	0.64074	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.18960	2.18;2.18;2.18	5.32	2.93	0.34026	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.077032	0.53938	D	0.000051	T	0.33206	0.0855	L	0.46157	1.445	0.53005	D	0.999967	D;D;D	0.89917	0.992;1.0;0.991	P;D;P	0.71414	0.862;0.973;0.903	T	0.01259	-1.1403	10	0.36615	T	0.2	-12.5052	8.8479	0.35181	0.8449:0.0:0.1551:0.0	.	800;820;820	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	800;820;820;820	ENSP00000441013:L800V;ENSP00000386701:L820V;ENSP00000302530:L820V	ENSP00000302530:L820V	L	-	1	2	BUB1	111116173	0.968000	0.33430	0.664000	0.29753	0.976000	0.68499	1.421000	0.34815	0.334000	0.23590	0.460000	0.39030	TTA		0.353	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		3	17	0	0	0	0	3	17				
LRP1B	53353	broad.mit.edu	37	2	141081499	141081499	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:141081499T>G	ENST00000389484.3	-	81	13448	c.12477A>C	c.(12475-12477)aaA>aaC	p.K4159N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4159					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAAAACACCTTTTGTTTTAT	0.269										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12475-12477)AAA>AAC		low density lipoprotein-related protein 1B							58.0	65.0	63.0					2																	141081499		2202	4288	6490	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081499T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12477A>C	2.37:g.141081499T>G	ENSP00000374135:p.Lys4159Asn	TSP Lung(27;0.18)					p.K4159N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	81	13449	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4159			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12477A>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.82|14.82	2.648602|2.648602	0.47258|0.47258	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|D	0.90900|0.89810	-2.75|-2.57	5.37|5.37	2.6|2.6	0.31112|0.31112	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.071226|0.071226	0.56097|0.56097	D|D	0.000040|0.000040	D|D	0.82930|0.82930	0.5144|0.5144	L|L	0.39898|0.39898	1.24|1.24	0.26112|0.26112	N|N	0.980674|0.980674	P|.	0.38922|.	0.651|.	B|.	0.38428|.	0.273|.	T|T	0.68481|0.68481	-0.5397|-0.5397	10|8	0.25751|0.16420	T|T	0.34|0.52	.|.	8.4107|8.4107	0.32642|0.32642	0.0:0.1952:0.0:0.8048|0.0:0.1952:0.0:0.8048	.|.	4159|.	Q9NZR2|.	LRP1B_HUMAN|.	N|T	4159;4097|391	ENSP00000374135:K4159N|ENSP00000415052:K391T	ENSP00000374135:K4159N|ENSP00000415052:K391T	K|K	-|-	3|2	2|0	LRP1B|LRP1B	140797969|140797969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.240000|1.240000	0.32731|0.32731	0.300000|0.300000	0.22699|0.22699	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.269	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	27	0	0	0	0	15	27				
KIF1A	547	broad.mit.edu	37	2	241737138	241737138	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr2:241737138C>T	ENST00000320389.7	-	2	190	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KIF1A_ENST00000498729.2_Missense_Mutation_p.R11Q	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	11	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R11Q(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGGCGGACCCGCACCGCCAC	0.602																																						uc002vzy.2		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(1)	1						c.(31-33)CGG>CAG		axonal transport of synaptic vesicles							35.0	40.0	39.0					2																	241737138		2008	4151	6159	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241737138C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.32G>A	2.37:g.241737138C>T	ENSP00000322791:p.Arg11Gln					KIF1A_uc010fzk.2_Missense_Mutation_p.R11Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R11Q	p.R11Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	2	178	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	11			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.32G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	36	5.735176	0.96865	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	4.78	4.78	0.61160	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.98757	0.9582	H	0.98446	4.235	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	D	0.99716	1.1008	10	0.87932	D	0	.	17.7694	0.88487	0.0:1.0:0.0:0.0	.	11;11;11	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	Q	11	ENSP00000322791:R11Q;ENSP00000438388:R11Q;ENSP00000384231:R11Q;ENSP00000398686:R11Q	ENSP00000322791:R11Q	R	-	2	0	KIF1A	241385811	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	7.518000	0.81795	2.360000	0.80028	0.467000	0.42956	CGG		0.602	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	15	0	0	0	0	6	15				
SLC5A1	6523	broad.mit.edu	37	22	32498104	32498104	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr22:32498104C>A	ENST00000266088.4	+	13	1795	c.1545C>A	c.(1543-1545)agC>agA	p.S515R	SLC5A1_ENST00000543737.1_Missense_Mutation_p.S388R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	515					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TGGAGCCCAGCAACTGTCCCA	0.498																																						uc003amc.2		NA																	0				skin(1)	1						c.(1543-1545)AGC>AGA		solute carrier family 5 (sodium/glucose							314.0	244.0	268.0					22																	32498104		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32498104C>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1545C>A	22.37:g.32498104C>A	ENSP00000266088:p.Ser515Arg					SLC5A1_uc011alz.1_Missense_Mutation_p.S388R	p.S515R	NM_000343	NP_000334	P13866	SC5A1_HUMAN			13	1777	+			515			Extracellular (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1545C>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378859	0.42207	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	T;T	0.79141	-1.24;-1.24	5.75	3.6	0.41247	.	0.157257	0.64402	D	0.000002	T	0.76579	0.4007	M	0.77820	2.39	0.58432	D	0.999991	B	0.26975	0.165	B	0.26094	0.066	T	0.74777	-0.3550	10	0.87932	D	0	.	10.8571	0.46804	0.0:0.8465:0.0:0.1535	.	515	P13866	SC5A1_HUMAN	R	515;388	ENSP00000266088:S515R;ENSP00000444898:S388R	ENSP00000266088:S515R	S	+	3	2	SLC5A1	30828104	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.114000	0.31196	0.711000	0.32018	-0.345000	0.07892	AGC		0.498	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		15	130	1	0	2.32e-09	2.84e-09	15	130				
ALS2CL	259173	broad.mit.edu	37	3	46728524	46728524	+	Silent	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:46728524G>A	ENST00000318962.4	-	5	566	c.483C>T	c.(481-483)caC>caT	p.H161H	ALS2CL_ENST00000415953.1_Silent_p.H161H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	161					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACTGTTGCACGTGATGGGCGA	0.677																																						uc003cqa.1		NA																	0				breast(2)|central_nervous_system(2)|skin(1)	5						c.(481-483)CAC>CAT		ALS2 C-terminal like isoform 1							48.0	47.0	47.0					3																	46728524		2203	4297	6500	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46728524G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.483C>T	3.37:g.46728524G>A						ALS2CL_uc003cqb.1_Silent_p.H161H|ALS2CL_uc003cqc.1_RNA	p.H161H	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	5	673	-			161					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.483C>T	CCDS2743.1																																																																																				0.677	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		11	15	0	0	0	0	11	15				
ALCAM	214	broad.mit.edu	37	3	105260531	105260531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:105260531C>T	ENST00000306107.5	+	8	1413	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	ALCAM_ENST00000472644.2_Missense_Mutation_p.R305C|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.R254C|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	305	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGATGTGAGGCGCAATGCAAC	0.423																																						uc003dvx.2		NA																	0				ovary(2)|breast(1)	3						c.(913-915)CGC>TGC		activated leukocyte cell adhesion molecule							167.0	134.0	145.0					3																	105260531		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260531C>T	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.913C>T	3.37:g.105260531C>T	ENSP00000305988:p.Arg305Cys					ALCAM_uc003dvw.1_Missense_Mutation_p.R305C|ALCAM_uc003dvy.2_Missense_Mutation_p.R305C|ALCAM_uc011bhh.1_Missense_Mutation_p.R254C|ALCAM_uc010hpp.2_Intron|ALCAM_uc003dvz.2_5'Flank	p.R305C	NM_001627	NP_001618	Q13740	CD166_HUMAN			8	1453	+			305			Extracellular (Potential).|Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.913C>T	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056968	0.76074	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.12147	2.71;2.71;2.71	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49679	-0.8914	10	0.87932	D	0	-10.9524	14.1492	0.65370	0.2615:0.7385:0.0:0.0	.	305;305	B4DTU0;Q13740	.;CD166_HUMAN	C	305;305;254	ENSP00000305988:R305C;ENSP00000419236:R305C;ENSP00000418213:R254C	ENSP00000305988:R305C	R	+	1	0	ALCAM	106743221	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.581000	0.46077	2.941000	0.99782	0.655000	0.94253	CGC		0.423	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		6	43	0	0	0	0	6	43				
GTF2E1	2960	broad.mit.edu	37	3	120469828	120469828	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:120469828G>T	ENST00000283875.5	+	2	522	c.429G>T	c.(427-429)caG>caT	p.Q143H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	143					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCTAATCAGCTCTTTGATC	0.353																																						uc003edz.3		NA																	0				ovary(1)	1						c.(427-429)CAG>CAT		general transcription factor IIE, polypeptide 1,							57.0	59.0	58.0					3																	120469828		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469828G>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.429G>T	3.37:g.120469828G>T	ENSP00000283875:p.Gln143His					GTF2E1_uc003edy.2_Missense_Mutation_p.Q143H	p.Q143H	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	543	+			143			C4-type (Potential).		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.429G>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615934	0.66672	.	.	ENSG00000153767	ENST00000283875	T	0.49139	0.79	6.06	0.0975	0.14494	Zinc finger, TFIIB-type (1);Zinc finger, RING/FYVE/PHD-type (1);	0.051201	0.85682	D	0.000000	T	0.62441	0.2428	M	0.79123	2.44	0.80722	D	1	D;D	0.54207	0.965;0.961	D;P	0.64877	0.93;0.897	T	0.60037	-0.7341	9	.	.	.	-31.9096	10.4943	0.44768	0.3813:0.0:0.6187:0.0	.	143;143	P29083;Q53F88	T2EA_HUMAN;.	H	143	ENSP00000283875:Q143H	.	Q	+	3	2	GTF2E1	121952518	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	2.523000	0.45580	-0.272000	0.09259	0.655000	0.94253	CAG		0.353	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		10	45	1	0	4.69e-08	5.65e-08	10	45				
PLXND1	23129	broad.mit.edu	37	3	129284253	129284253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr3:129284253C>T	ENST00000324093.4	-	25	4629	c.4451G>A	c.(4450-4452)cGg>cAg	p.R1484Q	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1484Q	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1484					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCTGTGCGCCGCAGCATGAG	0.602																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(4450-4452)CGG>CAG		plexin D1 precursor							114.0	101.0	105.0					3																	129284253		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284253C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4451G>A	3.37:g.129284253C>T	ENSP00000317128:p.Arg1484Gln					PLXND1_uc011blb.1_Missense_Mutation_p.R152Q	p.R1484Q	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			25	4551	-			1484			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4451G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346411	0.82022	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.48836	0.8;0.8	4.96	4.96	0.65561	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.123057	0.49916	D	0.000126	T	0.74688	0.3749	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.988;0.998	T	0.81017	-0.1123	10	0.87932	D	0	.	18.2337	0.89942	0.0:1.0:0.0:0.0	.	79;1484	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	Q	1484	ENSP00000317128:R1484Q;ENSP00000376931:R1484Q	ENSP00000317128:R1484Q	R	-	2	0	PLXND1	130766943	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.800000	0.85949	2.294000	0.77228	0.561000	0.74099	CGG		0.602	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		14	103	0	0	0	0	14	103				
CAMK2D	817	broad.mit.edu	37	4	114469879	114469879	+	Silent	SNP	A	A	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr4:114469879A>G	ENST00000342666.5	-	6	347	c.348T>C	c.(346-348)tgT>tgC	p.C116C	CAMK2D_ENST00000515496.1_Silent_p.C116C|CAMK2D_ENST00000296402.5_Silent_p.C116C|CAMK2D_ENST00000394526.2_Silent_p.C116C|CAMK2D_ENST00000394522.3_Silent_p.C116C|CAMK2D_ENST00000418639.2_Silent_p.C116C|CAMK2D_ENST00000379773.2_Silent_p.C116C|CAMK2D_ENST00000508738.1_Silent_p.C116C|CAMK2D_ENST00000429180.1_Silent_p.C116C|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000514328.1_Silent_p.C116C|CAMK2D_ENST00000394524.3_Silent_p.C116C|CAMK2D_ENST00000454265.2_Silent_p.C116C			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TCTGCTGTATACAATGACTGC	0.358																																						uc003ibi.2		NA																	0				ovary(1)	1						c.(346-348)TGT>TGC		calcium/calmodulin-dependent protein kinase II							86.0	81.0	83.0					4																	114469879		2203	4300	6503	SO:0001819	synonymous_variant	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114469879A>G	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.348T>C	4.37:g.114469879A>G						CAMK2D_uc003ibj.2_Silent_p.C116C|CAMK2D_uc003ibk.2_Silent_p.C116C|CAMK2D_uc003ibo.3_Intron|CAMK2D_uc003ibm.2_Silent_p.C116C|CAMK2D_uc003ibn.2_Silent_p.C116C|CAMK2D_uc003ibl.2_Silent_p.C116C	p.C116C	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	6	1207	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	116			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Silent	SNP	ENST00000342666.5	37	c.348T>C	CCDS3703.1																																																																																				0.358	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			6	14	0	0	0	0	6	14				
CDC23	8697	broad.mit.edu	37	5	137548688	137548688	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr5:137548688T>A	ENST00000394886.2	-	2	256	c.226A>T	c.(226-228)Att>Ttt	p.I76F	CDC23_ENST00000394884.3_Missense_Mutation_p.I76F|CDC23_ENST00000505120.1_Missense_Mutation_p.I76F	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|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 exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACCTCTGTAATAGGCGGAGGC	0.572																																						uc003lcl.2		NA																	0					0						c.(226-228)ATT>TTT		cell division cycle protein 23							78.0	79.0	79.0					5																	137548688		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548688T>A	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.226A>T	5.37:g.137548688T>A	ENSP00000378350:p.Ile76Phe					CDC23_uc003lcm.1_Missense_Mutation_p.I76F	p.I76F	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	257	-			76					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.226A>T	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	T	9.799	1.180059	0.21787	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.42900	0.96;0.96;1.36	5.93	-9.55	0.00569	Cdc23 (1);	0.448806	0.27214	N	0.020390	T	0.14184	0.0343	N	0.05078	-0.115	0.09310	N	0.999997	B;B	0.26845	0.161;0.0	B;B	0.29785	0.107;0.002	T	0.28522	-1.0041	10	0.08837	T	0.75	-0.0451	11.8332	0.52307	0.0:0.3844:0.4543:0.1612	.	76;76	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	F	76	ENSP00000378350:I76F;ENSP00000378348:I76F;ENSP00000423704:I76F	ENSP00000378348:I76F	I	-	1	0	CDC23	137576587	0.002000	0.14202	0.024000	0.17045	0.713000	0.41058	-0.728000	0.04925	-1.575000	0.01655	-1.064000	0.02280	ATT		0.572	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			13	81	0	0	0	0	13	81				
HS3ST5	222537	broad.mit.edu	37	6	114379098	114379098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:114379098C>A	ENST00000312719.5	-	5	1552	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Nonsense_Mutation_p.E122*|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	122	Substrate binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGTGGATTTCTTGAGAGGCT	0.443																																						uc003pwg.3		NA																	0				ovary(1)|pancreas(1)	2						c.(364-366)GAA>TAA		heparan sulfate (glucosamine)							91.0	93.0	92.0					6																	114379098		2203	4300	6503	SO:0001587	stop_gained	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379098C>A	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.364G>T	6.37:g.114379098C>A	ENSP00000427888:p.Glu122*					uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Nonsense_Mutation_p.E122*	p.E122*	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	2	396	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	122			Lumenal (Potential).		A8K1J2|Q52LI2|Q8N285	Nonsense_Mutation	SNP	ENST00000312719.5	37	c.364G>T	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302052	0.81136	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0247	0.97519	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000427888:E122X	E	-	1	0	HS3ST5	114485791	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.776000	0.85560	2.804000	0.96469	0.655000	0.94253	GAA		0.443	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		16	72	1	0	1.36e-06	1.58e-06	16	72				
PRKAR1B	5575	broad.mit.edu	37	7	635848	635848	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:635848C>T	ENST00000406797.1	-	7	817	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.V215M|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.V215M|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.V215M	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	215					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGGCTTTCACGGTCGCAGCC	0.622																																						uc003siu.1		NA																	0					0						c.(643-645)GTG>ATG		protein kinase, cAMP-dependent, regulatory, type							103.0	84.0	90.0					7																	635848		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:635848C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.643G>A	7.37:g.635848C>T	ENSP00000385749:p.Val215Met					PRKAR1B_uc003siv.2_Missense_Mutation_p.V215M|PRKAR1B_uc003siw.1_Missense_Mutation_p.V215M|PRKAR1B_uc003six.1_RNA	p.V215M	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	8	749	-		Ovarian(82;0.0779)	215			cAMP 1.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.643G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578014	0.65878	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568	D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	4.89	4.89	0.63831	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	U	0.000000	D	0.98438	0.9480	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99860	1.1082	10	0.87932	D	0	-26.2437	18.0953	0.89488	0.0:1.0:0.0:0.0	.	215	P31321	KAP1_HUMAN	M	215;215;215;215;215;215;160	ENSP00000440449:V215M;ENSP00000444487:V215M;ENSP00000385749:V215M;ENSP00000385349:V215M;ENSP00000353415:V215M;ENSP00000402648:V215M;ENSP00000394633:V160M	ENSP00000353415:V215M	V	-	1	0	PRKAR1B	602374	1.000000	0.71417	0.886000	0.34754	0.068000	0.16541	7.281000	0.78621	2.288000	0.76882	0.555000	0.69702	GTG		0.622	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			19	63	0	0	0	0	19	63				
TNRC18	84629	broad.mit.edu	37	7	5410483	5410484	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:5410483_5410484GC>TT	ENST00000430969.1	-	11	4089_4090	c.3741_3742GC>AA	c.(3739-3744)gtGCag>gtAAag	p.Q1248K	TNRC18_ENST00000399537.4_Missense_Mutation_p.Q1248K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1248							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTGTCAGCTGCACCCCCAGGT	0.693																																						uc003soi.3		NA																	0					0						c.(3739-3744)GTGCAG>GTAAAG		trinucleotide repeat containing 18																																				SO:0001583	missense	84629						DNA binding	g.chr7:5410483_5410484GC>TT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3741_3742delinsTT	7.37:g.5410483_5410484delinsTT	ENSP00000395538:p.Gln1248Lys						p.Q1248K	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	4090_4091	-		Ovarian(82;0.142)	1248					A8MX41|Q96JH1|Q96K91	Missense_Mutation	DNP	ENST00000430969.1	37	c.3741_3742GC>AA	CCDS47534.1																																																																																				0.693	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				11	31	0	0	0	0	11	31				
OGDH	4967	broad.mit.edu	37	7	44737087	44737087	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:44737087G>A	ENST00000222673.5	+	16	2212	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	OGDH_ENST00000439616.2_Missense_Mutation_p.G574S|OGDH_ENST00000447398.1_Missense_Mutation_p.G735S|OGDH_ENST00000444676.1_Missense_Mutation_p.G739S|OGDH_ENST00000543843.1_Missense_Mutation_p.G675S|OGDH_ENST00000449767.1_Missense_Mutation_p.G720S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	724					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTCTGAGTACGGCGTGCTGGG	0.597																																						uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2170-2172)GGC>AGC		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						90.0	89.0	89.0					7																	44737087		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737087G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2170G>A	7.37:g.44737087G>A	ENSP00000222673:p.Gly724Ser					OGDH_uc011kbx.1_Missense_Mutation_p.G720S|OGDH_uc011kby.1_Missense_Mutation_p.G574S|OGDH_uc003tlp.2_Missense_Mutation_p.G735S|OGDH_uc011kbz.1_Missense_Mutation_p.G519S|OGDH_uc003tlo.1_Missense_Mutation_p.G557S	p.G724S	NM_002541	NP_002532	Q02218	ODO1_HUMAN			16	2279	+			724					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2170G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445760	0.96187	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.14	5.14	0.70334	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	M	0.69248	2.105	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.71656	0.974;0.957;0.962;0.962;0.962;0.962	D	0.95707	0.8754	10	0.87932	D	0	-30.9965	18.3955	0.90496	0.0:0.0:1.0:0.0	.	519;574;720;735;626;724	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	S	574;720;735;739;724;675	ENSP00000398576:G574S;ENSP00000392878:G720S;ENSP00000388183:G735S;ENSP00000414662:G739S;ENSP00000222673:G724S;ENSP00000443821:G675S	ENSP00000222673:G724S	G	+	1	0	OGDH	44703612	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.657000	0.98554	2.664000	0.90586	0.555000	0.69702	GGC		0.597	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			12	74	0	0	0	0	12	74				
STEAP4	79689	broad.mit.edu	37	7	87913465	87913465	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:87913465C>A	ENST00000380079.4	-	2	221	c.120G>T	c.(118-120)caG>caT	p.Q40H	AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.Q40H|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.Q40H	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	40					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AATAACCACACTGGAGCATTT	0.428																																						uc003ujs.2		NA																	0					0						c.(118-120)CAG>CAT		tumor necrosis factor, alpha-induced protein 9							87.0	83.0	84.0					7																	87913465		1830	4079	5909	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913465C>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.120G>T	7.37:g.87913465C>A	ENSP00000369419:p.Gln40His					STEAP4_uc010lek.2_Missense_Mutation_p.Q40H|STEAP4_uc003ujt.2_Missense_Mutation_p.Q40H	p.Q40H	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	225	-	Esophageal squamous(14;0.00802)		40					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.120G>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261268	0.59431	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.44482	0.92;0.92;0.92	6.07	-0.967	0.10316	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.83012	2.62	0.39547	D	0.968901	B;D;D	0.89917	0.058;1.0;1.0	B;D;D	0.97110	0.04;1.0;1.0	T	0.63594	-0.6602	10	0.72032	D	0.01	-1.3932	9.6462	0.39868	0.0:0.5888:0.0945:0.3167	.	40;40;40	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	H	40	ENSP00000369419:Q40H;ENSP00000305545:Q40H;ENSP00000394399:Q40H	ENSP00000305545:Q40H	Q	-	3	2	STEAP4	87751401	0.997000	0.39634	0.995000	0.50966	0.949000	0.60115	0.584000	0.23864	-0.088000	0.12506	-0.150000	0.13652	CAG		0.428	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		9	58	1	0	7.48e-07	8.75e-07	9	58				
PTPRZ1	5803	broad.mit.edu	37	7	121691548	121691548	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr7:121691548A>T	ENST00000393386.2	+	24	6562	c.6151A>T	c.(6151-6153)Aag>Tag	p.K2051*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.K1184*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2051	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAACAGGGAAAAGAATCGAAC	0.348																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(6151-6153)AAG>TAG		protein tyrosine phosphatase, receptor-type,							93.0	94.0	94.0					7																	121691548		2203	4300	6503	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121691548A>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6151A>T	7.37:g.121691548A>T	ENSP00000377047:p.Lys2051*					PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.K1184*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.K641*	p.K2051*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			24	6546	+			2051			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.6151A>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	43	10.058258	0.99327	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8894	0.79279	1.0:0.0:0.0:0.0	.	.	.	.	X	2051;1184	.	ENSP00000377047:K2051X	K	+	1	0	PTPRZ1	121478784	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.147000	0.94646	2.154000	0.67381	0.528000	0.53228	AAG		0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		28	60	0	0	0	0	28	60				
ZFHX4	79776	broad.mit.edu	37	8	77690483	77690483	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:77690483T>C	ENST00000521891.2	+	4	3581	c.3133T>C	c.(3133-3135)Tgc>Cgc	p.C1045R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.C1019R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C1019R|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.C1019R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1019					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCCGAATCCTGCTATTACTA	0.488										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3055-3057)TGC>CGC		zinc finger homeodomain 4							133.0	133.0	133.0					8																	77690483		2003	4163	6166	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690483T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3133T>C	8.37:g.77690483T>C	ENSP00000430497:p.Cys1045Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.C1045R|ZFHX4_uc003yaw.1_Missense_Mutation_p.C1019R	p.C1019R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3442	+			1019					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3055T>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632729	0.29068	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.22	5.22	0.72569	Zinc finger, U1-type (1);	0.000000	0.48767	U	0.000164	T	0.38585	0.1046	L	0.53729	1.69	0.80722	D	1	B;B;B	0.28082	0.126;0.2;0.2	B;B;B	0.30782	0.056;0.12;0.12	T	0.18713	-1.0328	10	0.09338	T	0.73	.	15.5609	0.76244	0.0:0.0:0.0:1.0	.	1019;1019;1045	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	1045;1045;1019;1019;1019	ENSP00000430497:C1045R;ENSP00000399605:C1019R;ENSP00000050961:C1019R;ENSP00000430848:C1019R	ENSP00000050961:C1019R	C	+	1	0	ZFHX4	77853038	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.086000	0.71352	2.320000	0.78422	0.528000	0.53228	TGC		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		21	151	0	0	0	0	21	151				
PKHD1L1	93035	broad.mit.edu	37	8	110477209	110477209	+	Silent	SNP	G	G	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:110477209G>T	ENST00000378402.5	+	49	8252	c.8148G>T	c.(8146-8148)ctG>ctT	p.L2716L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2716					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L2718L(1)		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)			TTGATGAACTGGGAATGGGGT	0.473										HNSCC(38;0.096)																												uc003yne.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(8146-8148)CTG>CTT		fibrocystin L precursor							172.0	172.0	172.0					8																	110477209		1894	4114	6008	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110477209G>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.8148G>T	8.37:g.110477209G>T		HNSCC(38;0.096)					p.L2716L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8252	+			2716			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.8148G>T	CCDS47911.1																																																																																				0.473	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		44	113	1	0	8.21e-20	1.03e-19	44	113				
CSMD3	114788	broad.mit.edu	37	8	113649178	113649178	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:113649178C>T	ENST00000297405.5	-	22	3827	c.3583G>A	c.(3583-3585)Ggg>Agg	p.G1195R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1155R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1195R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1091R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1195	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTGAACCCGATTCGACTA	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3583-3585)GGG>AGG		CUB and Sushi multiple domains 3 isoform 1							209.0	176.0	187.0					8																	113649178		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113649178C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3583G>A	8.37:g.113649178C>T	ENSP00000297405:p.Gly1195Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G467R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1155R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1091R	p.G1195R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			22	3742	-			1195			Sushi 6.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3583G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848280	0.91277	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.56	5.56	0.83823	Complement control module (2);Sushi/SCR/CCP (3);	0.071791	0.56097	D	0.000039	T	0.74405	0.3712	L	0.48218	1.51	0.53005	D	0.999966	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.974;0.985;1.0	T	0.69105	-0.5233	10	0.27082	T	0.32	.	19.5386	0.95266	0.0:1.0:0.0:0.0	.	1091;1195;1155	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	1155;1195;535;1091;1195	ENSP00000345799:G1155R;ENSP00000297405:G1195R;ENSP00000341558:G535R;ENSP00000412263:G1091R;ENSP00000343124:G1195R	ENSP00000297405:G1195R	G	-	1	0	CSMD3	113718354	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.818000	0.86416	2.610000	0.88304	0.650000	0.86243	GGG		0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		10	60	0	0	0	0	10	60				
KCNK9	51305	broad.mit.edu	37	8	140630972	140630972	+	Silent	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr8:140630972C>T	ENST00000520439.1	-	2	717	c.654G>A	c.(652-654)ccG>ccA	p.P218P	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.P218P	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	218					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CCACGTAGAGCGGCTTCTTCT	0.557																																						uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(652-654)CCG>CCA		potassium channel, subfamily K, member 9							58.0	62.0	61.0					8																	140630972		2203	4300	6503	SO:0001819	synonymous_variant	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630972C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.654G>A	8.37:g.140630972C>T						KCNK9_uc003yvg.1_Silent_p.P218P|KCNK9_uc003yve.1_RNA	p.P218P	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	718	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	218			Extracellular (Potential).		Q2M290|Q540F2	Silent	SNP	ENST00000520439.1	37	c.654G>A	CCDS6377.1																																																																																				0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		20	99	0	0	0	0	20	99				
PTPN3	5774	broad.mit.edu	37	9	112200446	112200446	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:112200446C>T	ENST00000374541.2	-	8	639	c.535G>A	c.(535-537)Gat>Aat	p.D179N	PTPN3_ENST00000446349.1_Missense_Mutation_p.D48N|PTPN3_ENST00000412145.1_Missense_Mutation_p.D48N|PTPN3_ENST00000262539.3_Missense_Mutation_p.D70N	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	179	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCATTTTGATCGGGTATAAAG	0.433																																						uc004bed.2		NA																	0				ovary(3)	3						c.(535-537)GAT>AAT		protein tyrosine phosphatase, non-receptor type							84.0	87.0	86.0					9																	112200446		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112200446C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.535G>A	9.37:g.112200446C>T	ENSP00000363667:p.Asp179Asn					PTPN3_uc004beb.2_Missense_Mutation_p.D48N|PTPN3_uc004bec.2_Missense_Mutation_p.D48N|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.D179N|PTPN3_uc011lwh.1_Missense_Mutation_p.D70N	p.D179N	NM_002829	NP_002820	P26045	PTN3_HUMAN			8	647	-			179			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.535G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190479	0.09547	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	6.03	4.18	0.49190	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.147140	0.64402	D	0.000012	T	0.52693	0.1750	N	0.03983	-0.305	0.80722	D	1	P;B;B	0.37663	0.604;0.042;0.011	B;B;B	0.37650	0.255;0.01;0.004	T	0.55503	-0.8131	10	0.06099	T	0.92	.	12.6409	0.56709	0.1309:0.7433:0.1258:0.0	.	70;179;179	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	N	179;48;48;179;70	ENSP00000416654:D48N;ENSP00000395384:D48N;ENSP00000363667:D179N;ENSP00000262539:D70N	ENSP00000262539:D70N	D	-	1	0	PTPN3	111240267	1.000000	0.71417	0.986000	0.45419	0.399000	0.30720	2.680000	0.46918	0.868000	0.35678	0.655000	0.94253	GAT		0.433	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			13	49	0	0	0	0	13	49				
TTLL11	158135	broad.mit.edu	37	9	124751527	124751527	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr9:124751527C>T	ENST00000373776.3	-	4	1673	c.1486G>A	c.(1486-1488)Gtc>Atc	p.V496I	TTLL11_ENST00000321582.5_Missense_Mutation_p.V496I|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	496	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGGTAGAAGACTTTGAGCTCT	0.562																																						uc004blt.1		NA																	0					0						c.(1486-1488)GTC>ATC		tubulin tyrosine ligase-like family, member 11							130.0	123.0	125.0					9																	124751527		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751527C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1486G>A	9.37:g.124751527C>T	ENSP00000362881:p.Val496Ile					TTLL11_uc011lyl.1_Missense_Mutation_p.V496I|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.V173I|TTLL11_uc004blu.1_3'UTR	p.V496I	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			4	1674	-			496			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1486G>A	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442256	0.63067	.	.	ENSG00000175764	ENST00000321582;ENST00000373778;ENST00000373776	T;T	0.06294	3.46;3.32	5.6	5.6	0.85130	.	0.407010	0.32563	N	0.005939	T	0.07143	0.0181	N	0.20685	0.6	0.58432	D	0.999999	B;B	0.31680	0.335;0.078	B;B	0.37304	0.188;0.246	T	0.50448	-0.8827	10	0.22109	T	0.4	.	18.5976	0.91234	0.0:1.0:0.0:0.0	.	496;496	F8W6M1;Q8NHH1	.;TTL11_HUMAN	I	496;147;496	ENSP00000321346:V496I;ENSP00000362881:V496I	ENSP00000321346:V496I	V	-	1	0	TTLL11	123791348	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.757000	0.68766	2.628000	0.89032	0.650000	0.86243	GTC		0.562	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		14	77	0	0	0	0	14	77				
DMD	1756	broad.mit.edu	37	X	31200900	31200900	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chrX:31200900T>C	ENST00000357033.4	-	68	10135	c.9929A>G	c.(9928-9930)cAg>cGg	p.Q3310R	DMD_ENST00000378702.4_Missense_Mutation_p.Q242R|DMD_ENST00000378680.2_Missense_Mutation_p.Q242R|DMD_ENST00000378723.3_Missense_Mutation_p.Q242R|DMD_ENST00000378707.3_Missense_Mutation_p.Q850R|DMD_ENST00000541735.1_Missense_Mutation_p.Q850R|DMD_ENST00000343523.2_Missense_Mutation_p.Q850R|DMD_ENST00000378677.2_Missense_Mutation_p.Q3306R|DMD_ENST00000361471.4_Missense_Mutation_p.Q242R|DMD_ENST00000359836.1_Missense_Mutation_p.Q850R|DMD_ENST00000474231.1_Missense_Mutation_p.Q850R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3310	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACATTTGGCCTGATGCTTGGC	0.458																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(9928-9930)CAG>CGG		dystrophin Dp427m isoform							101.0	87.0	91.0					X																	31200900		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31200900T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9929A>G	X.37:g.31200900T>C	ENSP00000354923:p.Gln3310Arg					DMD_uc004dcq.1_Missense_Mutation_p.Q581R|DMD_uc004dcr.1_Missense_Mutation_p.Q850R|DMD_uc004dcs.1_Missense_Mutation_p.Q850R|DMD_uc004dct.1_Missense_Mutation_p.Q850R|DMD_uc004dcu.1_Missense_Mutation_p.Q850R|DMD_uc004dcv.1_Missense_Mutation_p.Q850R|DMD_uc004dcw.2_Missense_Mutation_p.Q1966R|DMD_uc004dcx.2_Missense_Mutation_p.Q1969R|DMD_uc004dcz.2_Missense_Mutation_p.Q3187R|DMD_uc004dcy.1_Missense_Mutation_p.Q3306R|DMD_uc004ddb.1_Missense_Mutation_p.Q3302R|DMD_uc004dcm.1_Missense_Mutation_p.Q242R|DMD_uc004dcn.1_Missense_Mutation_p.Q242R|DMD_uc004dco.1_Missense_Mutation_p.Q242R|DMD_uc004dcp.1_Missense_Mutation_p.Q242R|DMD_uc011mkb.1_Missense_Mutation_p.Q242R|DMD_uc010ngm.2_Missense_Mutation_p.Q242R	p.Q3310R	NM_004006	NP_003997	P11532	DMD_HUMAN			68	10173	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3310			Interaction with SYNM (By similarity).|ZZ-type.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.9929A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653902	0.88056	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.41	5.41	0.78517	Zinc finger, ZZ-type (3);	0.000000	0.35291	U	0.003320	D	0.92877	0.7734	M	0.75615	2.305	0.80722	D	1	P;P;D;D;D;D;D;D;D;D;D;D;P;D;P;D	0.89917	0.925;0.914;0.994;0.997;0.997;0.997;0.995;0.992;0.996;0.998;0.997;0.988;0.908;1.0;0.786;0.994	D;P;D;D;D;D;D;D;D;D;D;D;D;D;P;D	0.91635	0.932;0.859;0.988;0.992;0.992;0.992;0.962;0.961;0.959;0.994;0.99;0.969;0.922;0.999;0.823;0.988	D	0.93696	0.7011	10	0.87932	D	0	.	14.5024	0.67732	0.0:0.0:0.0:1.0	.	242;3302;3310;3306;1969;1966;850;850;850;850;850;3187;242;242;242;242	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	R	3302;1969;1966;242;1006;3306;3310;850;850;3310;3187;850;850;242;850;242;242;100	ENSP00000367997:Q242R;ENSP00000350765:Q1006R;ENSP00000367948:Q3306R;ENSP00000354923:Q3310R;ENSP00000352894:Q850R;ENSP00000340057:Q850R;ENSP00000367979:Q850R;ENSP00000444119:Q850R;ENSP00000367974:Q242R;ENSP00000417123:Q850R;ENSP00000354464:Q242R;ENSP00000367951:Q242R;ENSP00000367977:Q100R	ENSP00000340057:Q850R	Q	-	2	0	DMD	31110821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.001000	0.58596	0.486000	0.48141	CAG		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		3	57	0	0	0	0	3	57				
PPTC7	160760	broad.mit.edu	37	12	111020740	111020742	+	In_Frame_Del	DEL	CGC	CGC	-	rs151075597	byFrequency	TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr12:111020740_111020742delCGC	ENST00000354300.3	-	1	383_385	c.95_97delGCG	c.(94-99)ggcgac>gac	p.G32del		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	32	Gly-rich.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AGTCCGTAGTcgccgccgccgcc	0.739														302	0.0603035	0.0719	0.1254	5008	,	,		10517	0.001		0.0924	False		,,,				2504	0.0266					uc001trh.1		NA																	0					0						c.(94-99)GGCGAC>GAC		T-cell activation protein phosphatase 2C				149,1205		60,29,588						4.1	1.0		dbSNP_126	4	388,2704		139,110,1297	no	coding	PPTC7	NM_139283.1		199,139,1885	A1A1,A1R,RR		12.5485,11.0044,12.0783				537,3909				SO:0001651	inframe_deletion	160760						metal ion binding|phosphoprotein phosphatase activity	g.chr12:111020740_111020742delCGC	AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.95_97delGCG	12.37:g.111020749_111020751delCGC	ENSP00000346255:p.Gly32del						p.G32del	NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN			1	323_325	-			32			Gly-rich.		B3KWC5|Q68DZ7|Q6UY82	In_Frame_Del	DEL	ENST00000354300.3	37	c.95_97delGCG	CCDS9149.1																																																																																				0.739	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283		3	4	NA	NA	NA	NA	3	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579450	7579451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr17:7579450_7579451insG	ENST00000269305.4	-	4	425_426	c.236_237insC	c.(235-237)gctfs	p.A79fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A79fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A79fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.A79fs	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	79	Interaction with HRMT1L2.|Interaction with WWOX.		A -> G (in a sporadic cancer; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79V(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(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)	CCGGTGTAGGAGCTGCTGGTGC	0.624		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)	uc002gim.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		21	Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(4)|Substitution - Missense(1)	p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.R65fs*38(1)|p.D48fs*55(1)|p.A79V(1)|p.A79_A88del10(1)|p.P13fs*18(1)|p.S33fs*23(1)	haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|lung(2)|breast(2)|stomach(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(235-237)GCTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579450_7579451insG	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.237dupC	17.37:g.7579451_7579451dupG	ENSP00000269305:p.Ala79fs	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_uc002gig.1_Frame_Shift_Ins_p.A79fs|TP53_uc002gih.2_Frame_Shift_Ins_p.A79fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Ins_p.A79fs|TP53_uc010cni.1_Frame_Shift_Ins_p.A79fs|TP53_uc002gij.2_Frame_Shift_Ins_p.A79fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Ins_p.A40fs|TP53_uc010cnk.1_Frame_Shift_Ins_p.A94fs	p.A79fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	430_431	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	79		A -> G (in a sporadic cancer; somatic mutation).|A -> T (in a sporadic cancer; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).	Interaction with WWOX.|Interaction with HRMT1L2.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.236_237insC	CCDS11118.1																																																																																				0.624	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		80	81	NA	NA	NA	NA	80	81	---	---	---	---
HIST1H1E	3008	broad.mit.edu	37	6	26156805	26156807	+	In_Frame_Del	DEL	AAG	AAG	-	rs535188796		TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:26156805_26156807delAAG	ENST00000304218.3	+	1	247_249	c.187_189delAAG	c.(187-189)aagdel	p.K64del	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	64	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K63K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCCGCTCTCAAGAAAGCGCTGG	0.616																																						uc003ngq.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(187-189)AAGdel		histone cluster 1, H1e																																				SO:0001651	inframe_deletion	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156805_26156807delAAG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.187_189delAAG	6.37:g.26156805_26156807delAAG	ENSP00000307705:p.Lys64del					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.K64del	NM_005321	NP_005312	P10412	H14_HUMAN			1	247_249	+			64			H15.		Q4VB25	In_Frame_Del	DEL	ENST00000304218.3	37	c.187_189delAAG	CCDS4586.1																																																																																				0.616	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		15	49	NA	NA	NA	NA	15	49	---	---	---	---
MTO1	25821	broad.mit.edu	37	6	74176036	74176037	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chr6:74176036_74176037insGT	ENST00000370300.4	+	2	412_413	c.322_323insGT	c.(322-324)ggtfs	p.G108fs	RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000370305.1_Frame_Shift_Ins_p.G34fs|MTO1_ENST00000518210.1_3'UTR|MTO1_ENST00000498286.1_Frame_Shift_Ins_p.G108fs|MTO1_ENST00000415954.2_Frame_Shift_Ins_p.G108fs	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	108					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TGACCAGTCTGGTGTACATTAT	0.455																																						uc003pgy.3		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(322-324)GGTfs		mitochondrial translation optimization 1 homolog																																				SO:0001589	frameshift_variant	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74176036_74176037insGT	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.325_326dupGT	6.37:g.74176039_74176040dupGT	ENSP00000359323:p.Gly108fs					MTO1_uc010kav.2_Frame_Shift_Ins_p.G108fs|MTO1_uc003pgz.3_Frame_Shift_Ins_p.G108fs|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Frame_Shift_Ins_p.G34fs|MTO1_uc003phc.1_Frame_Shift_Ins_p.G34fs	p.G108fs	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN			2	446_447	+			108					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Frame_Shift_Ins	INS	ENST00000370300.4	37	c.322_323insGT	CCDS4979.1																																																																																				0.455	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		25	86	NA	NA	NA	NA	25	86	---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49137917	49137919	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CR-7372-01A-11D-2012-08	TCGA-CR-7372-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9032c525-9bed-47f9-b9f2-ecce4593ea37	067eb6e6-2211-467d-993f-f16368e1da5d	g.chrX:49137917_49137919delTGC	ENST00000055335.6	+	2	1069_1071	c.1053_1055delTGC	c.(1051-1056)tttgcc>ttc	p.A352del	PPP1R3F_ENST00000376188.1_In_Frame_Del_p.A7del|PPP1R3F_ENST00000466508.1_In_Frame_Del_p.A7del|PPP1R3F_ENST00000495799.1_In_Frame_Del_p.A7del|PPP1R3F_ENST00000438316.1_In_Frame_Del_p.A24del	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	352					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					ATAACACCTTTGCCATGGGTAAG	0.438																																						uc004dnh.1		NA																	0				ovary(2)|skin(1)	3						c.(1051-1056)TTTGCC>TTC		protein phosphatase 1, regulatory (inhibitor)																																				SO:0001651	inframe_deletion	89801					integral to membrane		g.chrX:49137917_49137919delTGC		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1053_1055delTGC	X.37:g.49137917_49137919delTGC	ENSP00000055335:p.Ala352del					PPP1R3F_uc011mnd.1_In_Frame_Del_p.A24del|PPP1R3F_uc004dni.2_In_Frame_Del_p.A7del|PPP1R3F_uc004dnj.1_In_Frame_Del_p.A7del	p.A352del	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			2	1069_1071	+	Ovarian(276;0.236)		352			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	In_Frame_Del	DEL	ENST00000055335.6	37	c.1053_1055delTGC	CCDS35254.1																																																																																				0.438	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		7	10	NA	NA	NA	NA	7	10	---	---	---	---
