#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA13	154664	genome.wustl.edu	37	7	48273629	48273629	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:48273629C>T	ENST00000435803.1	+	8	802	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	260					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGTTTACCACCTGTCCATGCA	0.368																																																	0													91.0	87.0	88.0					7																	48273629		1874	4115	5989	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.778C>T	7.37:g.48273629C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L260	ENST00000435803.1	37	c.778	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48273629	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.026	T
ABCD3	5825	genome.wustl.edu	37	1	94972174	94972174	+	Silent	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:94972174C>A	ENST00000370214.4	+	21	1845	c.1821C>A	c.(1819-1821)ggC>ggA	p.G607G	ABCD3_ENST00000454898.2_Silent_p.G631G|ABCD3_ENST00000394233.2_Silent_p.G497G|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Silent_p.G534G	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	607	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACGTGGAAGGCTACATTTATA	0.403																																																	0													167.0	152.0	157.0					1																	94972174		2203	4300	6503	SO:0001819	synonymous_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1821C>A	1.37:g.94972174C>A			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Silent	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.G631	ENST00000370214.4	37	c.1893	CCDS749.1	1																																																																																			ABCD3	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.403	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	C	NM_002858		94972174	+1	no_errors	ENST00000454898	ensembl	human	known	70_37	silent	SNP	0.994	A
ACTA1	58	genome.wustl.edu	37	1	229568027	229568027	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:229568027G>A	ENST00000366684.3	-	4	708	c.606C>T	c.(604-606)ttC>ttT	p.F202F	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	202					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CTGTGGTCACGAAGGAGTAGC	0.706																																																	0													33.0	31.0	32.0					1																	229568027		2203	4299	6502	SO:0001819	synonymous_variant	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.606C>T	1.37:g.229568027G>A			P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.F202	ENST00000366684.3	37	c.606	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like		0.706	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	G	NM_001100		229568027	-1	no_errors	ENST00000366684	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAM11	4185	genome.wustl.edu	37	17	42850447	42850447	+	Silent	SNP	C	C	T	rs140421831		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:42850447C>T	ENST00000200557.6	+	10	988	c.819C>T	c.(817-819)gcC>gcT	p.A273A	ADAM11_ENST00000535346.1_Silent_p.A73A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	273	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGAACCTGGCCGATGTGGTAA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14183	0.0		0.0	False		,,,				2504	0.0																0								C		0,4406		0,0,2203	90.0	79.0	82.0		819	-10.1	0.5	17	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM11	NM_002390.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		273/770	42850447	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4185			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.819C>T	17.37:g.42850447C>T			Q14808|Q14809|Q14810	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A273	ENST00000200557.6	37	c.819	CCDS11486.1	17																																																																																			ADAM11	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.622	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	C	NM_002390		42850447	+1	no_errors	ENST00000200557	ensembl	human	known	70_37	silent	SNP	0.379	T
ADAMTS1	9510	genome.wustl.edu	37	21	28217230	28217230	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:28217230C>G	ENST00000284984.3	-	1	498	c.44G>C	c.(43-45)gGc>gCc	p.G15A		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	15					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CATGTCGCTGCCCAGCTTGCG	0.692											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11.0	13.0	13.0					21																	28217230		2116	4116	6232	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.44G>C	21.37:g.28217230C>G	ENSP00000284984:p.Gly15Ala	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.G15A	ENST00000284984.3	37	c.44	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	C	7.347	0.622172	0.14193	.	.	ENSG00000154734	ENST00000284984	T	0.60299	0.2	3.47	1.65	0.23941	.	.	.	.	.	T	0.29389	0.0732	N	0.08118	0	0.09310	N	1	B	0.30793	0.295	B	0.26202	0.067	T	0.16305	-1.0407	9	0.15952	T	0.53	.	5.569	0.17187	0.0:0.7474:0.0:0.2526	.	15	Q9UHI8	ATS1_HUMAN	A	15	ENSP00000284984:G15A	ENSP00000284984:G15A	G	-	2	0	ADAMTS1	27139101	0.065000	0.20965	0.029000	0.17559	0.841000	0.47740	0.498000	0.22530	0.469000	0.27268	-0.266000	0.10368	GGC	ADAMTS1	-	prints_Pept_M12B_ADAM-TS1		0.692	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	C			28217230	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	0.060	G
ADAMTS1	9510	genome.wustl.edu	37	21	28217233	28217233	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:28217233A>T	ENST00000284984.3	-	1	495	c.41T>A	c.(40-42)cTg>cAg	p.L14Q		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	14					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTCGCTGCCCAGCTTGCGCCT	0.692											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11.0	14.0	13.0					21																	28217233		2113	4103	6216	SO:0001583	missense	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.41T>A	21.37:g.28217233A>T	ENSP00000284984:p.Leu14Gln	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.L14Q	ENST00000284984.3	37	c.41	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	A	16.56	3.157725	0.57368	.	.	ENSG00000154734	ENST00000284984	T	0.61980	0.06	3.61	-2.09	0.07232	.	.	.	.	.	T	0.34774	0.0909	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.16722	0.016	T	0.16158	-1.0412	9	0.52906	T	0.07	.	4.5408	0.12056	0.197:0.3257:0.4773:0.0	.	14	Q9UHI8	ATS1_HUMAN	Q	14	ENSP00000284984:L14Q	ENSP00000284984:L14Q	L	-	2	0	ADAMTS1	27139104	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-0.899000	0.04101	-0.415000	0.07484	0.454000	0.30748	CTG	ADAMTS1	-	prints_Pept_M12B_ADAM-TS1		0.692	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	A			28217233	-1	no_errors	ENST00000284984	ensembl	human	known	70_37	missense	SNP	0.001	T
AHI1	54806	genome.wustl.edu	37	6	135679284	135679284	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:135679284C>G	ENST00000367800.4	-	22	3367	c.3151G>C	c.(3151-3153)Gat>Cat	p.D1051H	AHI1_ENST00000457866.2_Missense_Mutation_p.D1051H|AHI1_ENST00000417892.2_Missense_Mutation_p.D405H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1051	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGTGCTGTATCTACCTGATGG	0.353																																																	0													306.0	295.0	298.0					6																	135679284		1861	4100	5961	SO:0001583	missense	54806			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3151G>C	6.37:g.135679284C>G	ENSP00000356774:p.Asp1051His		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.D1051H	ENST00000367800.4	37	c.3151	CCDS47483.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.81|14.81	2.647491|2.647491	0.47258|0.47258	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602|ENST00000367799	T;T;T;T|.	0.63417|.	0.24;0.24;-0.04;0.24|.	4.97|4.97	4.1|4.1	0.47936|0.47936	Src homology-3 domain (1);|.	0.563674|.	0.19257|.	N|.	0.118774|.	T|.	0.43144|.	0.1234|.	L|L	0.39898|0.39898	1.24|1.24	0.41468|0.41468	D|D	0.988081|0.988081	D;D|.	0.76494|.	0.98;0.999|.	P;D|.	0.69142|.	0.557;0.962|.	T|.	0.38001|.	-0.9681|.	10|.	0.45353|.	T|.	0.12|.	-22.9635|-22.9635	12.2043|12.2043	0.54342|0.54342	0.0:0.9193:0.0:0.0807|0.0:0.9193:0.0:0.0807	.|.	1051;1051|.	Q8N157;Q4FD35|.	AHI1_HUMAN;.|.	H|Y	1051;1051;405;1051|550	ENSP00000356774:D1051H;ENSP00000388650:D1051H;ENSP00000416867:D405H;ENSP00000265602:D1051H|.	ENSP00000265602:D1051H|.	D|X	-|-	1|3	0|2	AHI1|AHI1	135720977|135720977	0.997000|0.997000	0.39634|0.39634	0.368000|0.368000	0.25939|0.25939	0.955000|0.955000	0.61496|0.61496	2.968000|2.968000	0.49224|0.49224	1.418000|1.418000	0.47098|0.47098	0.557000|0.557000	0.71058|0.71058	GAT|TAG	AHI1	-	pfscan_SH3_domain		0.353	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	C	NM_017651		135679284	-1	no_errors	ENST00000265602	ensembl	human	known	70_37	missense	SNP	0.053	G
ANAPC1	64682	genome.wustl.edu	37	2	112588897	112588897	+	Missense_Mutation	SNP	G	G	A	rs201476913		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:112588897G>A	ENST00000341068.3	-	21	3363	c.2591C>T	c.(2590-2592)cCt>cTt	p.P864L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	864					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACAGATTCCAGGGAGGTAAGG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17424	0.0		0.001	False		,,,				2504	0.0																0													76.0	69.0	72.0					2																	112588897		2203	4300	6503	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2591C>T	2.37:g.112588897G>A	ENSP00000339109:p.Pro864Leu		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.P864L	ENST00000341068.3	37	c.2591	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593389	0.46214	.	.	ENSG00000153107	ENST00000341068	T	0.37235	1.21	4.25	4.25	0.50352	.	0.000000	0.37012	U	0.002287	T	0.38931	0.1059	M	0.68593	2.085	0.80722	D	1	P	0.36065	0.535	B	0.34722	0.188	T	0.40194	-0.9576	10	0.38643	T	0.18	-17.7011	17.0361	0.86476	0.0:0.0:1.0:0.0	.	864	Q9H1A4	APC1_HUMAN	L	864	ENSP00000339109:P864L	ENSP00000339109:P864L	P	-	2	0	ANAPC1	112305368	1.000000	0.71417	0.976000	0.42696	0.841000	0.47740	6.277000	0.72608	2.085000	0.62840	0.313000	0.20887	CCT	ANAPC1	-	NULL		0.388	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	G	NM_022662		112588897	-1	no_errors	ENST00000341068	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKS6	203286	genome.wustl.edu	37	9	101513319	101513319	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:101513319C>T	ENST00000353234.4	-	13	2433	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	ANKS6_ENST00000375019.2_Missense_Mutation_p.E495K|ANKS6_ENST00000375018.1_Missense_Mutation_p.E797K|ANKS6_ENST00000540940.1_Missense_Mutation_p.E601K			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	796	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACCTCTTGTTCCTCAAAAATG	0.303																																																	0													103.0	96.0	98.0					9																	101513319		1813	4084	5897	SO:0001583	missense	203286			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2386G>A	9.37:g.101513319C>T	ENSP00000297837:p.Glu796Lys		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.E797K	ENST00000353234.4	37	c.2389	CCDS43856.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.171562|5.171562	0.94807|0.94807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56202|0.56202	0.1969|0.1969	N|N	0.25380|0.25380	0.74|0.74	0.54753|0.54753	D|D	0.99998|0.99998	D;D|.	0.65815|.	0.989;0.995|.	P;D|.	0.70227|.	0.844;0.968|.	T|T	0.48811|0.48811	-0.9002|-0.9002	10|5	0.87932|.	D|.	0|.	-30.4961|-30.4961	17.7923|17.7923	0.88558|0.88558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	797;796|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	K|E	495;797;796;601|265	ENSP00000364159:E495K;ENSP00000364158:E797K;ENSP00000297837:E796K;ENSP00000442189:E601K|.	ENSP00000297837:E796K|.	E|G	-|-	1|2	0|0	ANKS6|ANKS6	100553140|100553140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.081000|7.081000	0.76844|0.76844	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAA|GGA	ANKS6	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.303	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	C	NM_173551		101513319	-1	no_errors	ENST00000375018	ensembl	human	known	70_37	missense	SNP	1.000	T
AR	367	genome.wustl.edu	37	X	66765955	66765955	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:66765955G>A	ENST00000374690.3	+	1	1491	c.967G>A	c.(967-969)Gag>Aag	p.E323K	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.E323K|AR_ENST00000504326.1_Missense_Mutation_p.E323K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	321	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GCTAGAAGGCGAGAGCCTAGG	0.572									Androgen Insensitivity Syndrome																																								0													41.0	32.0	35.0					X																	66765955		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.967G>A	X.37:g.66765955G>A	ENSP00000363822:p.Glu323Lys		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.E323K	ENST00000374690.3	37	c.967	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	g	15.06	2.721002	0.48728	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.99	4.11	0.48088	.	0.834308	0.10970	N	0.613888	D	0.97028	0.9029	M	0.91140	3.18	0.09310	N	1	P;P;P	0.44627	0.839;0.487;0.586	P;B;B	0.49421	0.61;0.228;0.126	D	0.91206	0.4995	10	0.38643	T	0.18	.	11.905	0.52705	0.0:0.1726:0.8274:0.0	.	323;323;321	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	K	133;323;323;323;315	ENSP00000363822:E323K;ENSP00000421155:E323K;ENSP00000379359:E323K	ENSP00000363822:E323K	E	+	1	0	AR	66682680	0.989000	0.36119	0.009000	0.14445	0.900000	0.52787	3.371000	0.52379	1.060000	0.40578	0.509000	0.49947	GAG	AR	-	pfam_Andrgn_rcpt		0.572	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66765955	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	0.061	A
ARID4B	51742	genome.wustl.edu	37	1	235383751	235383751	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:235383751C>G	ENST00000264183.3	-	15	1770	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	ARID4B_ENST00000366603.2_Missense_Mutation_p.E425Q|ARID4B_ENST00000349213.3_Missense_Mutation_p.E425Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	425	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTTTTATTTCTTTTACATTT	0.353																																																	0													120.0	111.0	114.0					1																	235383751		2203	4296	6499	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1273G>C	1.37:g.235383751C>G	ENSP00000264183:p.Glu425Gln		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E425Q	ENST00000264183.3	37	c.1273	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867883	0.51588	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.25085	1.87;1.82;1.82;1.92	5.35	4.44	0.53790	.	0.260941	0.43747	D	0.000526	T	0.27454	0.0674	N	0.19112	0.55	0.41849	D	0.990167	D;P;P;P	0.53619	0.961;0.9;0.844;0.608	P;P;P;B	0.54590	0.756;0.628;0.447;0.261	T	0.05801	-1.0863	10	0.59425	D	0.04	-11.435	11.4198	0.49974	0.0:0.9169:0.0:0.0831	.	106;425;425;425	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	Q	425	ENSP00000264184:E425Q;ENSP00000355562:E425Q;ENSP00000264183:E425Q;ENSP00000391497:E425Q	ENSP00000264183:E425Q	E	-	1	0	ARID4B	233450374	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	2.711000	0.47177	1.389000	0.46526	0.655000	0.94253	GAA	ARID4B	-	NULL		0.353	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235383751	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	1.000	G
ASCC3	10973	genome.wustl.edu	37	6	101312040	101312040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:101312040C>T	ENST00000369162.2	-	3	485	c.141G>A	c.(139-141)tgG>tgA	p.W47*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.W47*|ASCC3_ENST00000369143.2_Nonsense_Mutation_p.W47*	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	47					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTATCTTCTTCCATGTCAGGC	0.299																																																	0													103.0	115.0	111.0					6																	101312040		2201	4298	6499	SO:0001587	stop_gained	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.141G>A	6.37:g.101312040C>T	ENSP00000358159:p.Trp47*		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.W47*	ENST00000369162.2	37	c.141	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	C	38	7.240920	0.98157	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723;ENST00000369143	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4886	0.84191	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000320777:W47X	W	-	3	0	ASCC3	101418761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.479000	0.83701	0.655000	0.94253	TGG	ASCC3	-	NULL		0.299	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	C	NM_006828		101312040	-1	no_errors	ENST00000369162	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATMIN	23300	genome.wustl.edu	37	16	81077781	81077781	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:81077781G>C	ENST00000299575.4	+	4	1702	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.E404Q|ATMIN_ENST00000564241.1_Missense_Mutation_p.E404Q	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	560					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCAAGATATTGAGAAATCTGC	0.343																																																	0													42.0	42.0	42.0					16																	81077781		2202	4299	6501	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1678G>C	16.37:g.81077781G>C	ENSP00000299575:p.Glu560Gln		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.E560Q	ENST00000299575.4	37	c.1678	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055671	0.36277	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.31247	1.5	6.17	5.22	0.72569	.	0.251483	0.34932	N	0.003572	T	0.32315	0.0825	M	0.65975	2.015	0.27050	N	0.963808	P	0.42827	0.791	B	0.37650	0.255	T	0.34304	-0.9834	10	0.49607	T	0.09	-17.1769	12.7236	0.57156	0.0748:0.0:0.9252:0.0	.	560	O43313	ATMIN_HUMAN	Q	560;331	ENSP00000299575:E560Q	ENSP00000299575:E560Q	E	+	1	0	ATMIN	79635282	0.898000	0.30612	0.972000	0.41901	0.721000	0.41392	2.192000	0.42649	1.620000	0.50308	0.655000	0.94253	GAG	ATMIN	-	NULL		0.343	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	G	NM_015251		81077781	+1	no_errors	ENST00000299575	ensembl	human	known	70_37	missense	SNP	0.642	C
ATRNL1	26033	genome.wustl.edu	37	10	117607476	117607476	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr10:117607476C>T	ENST00000355044.3	+	28	4118	c.3992C>T	c.(3991-3993)tCa>tTa	p.S1331L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.S382L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.S124L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1331					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGAGGATCATCAGGTGCCCCT	0.468																																																	0													120.0	107.0	111.0					10																	117607476		2203	4300	6503	SO:0001583	missense	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3992C>T	10.37:g.117607476C>T	ENSP00000347152:p.Ser1331Leu		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.S1331L	ENST00000355044.3	37	c.3992	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221488	0.79464	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.51071	0.72;0.72;0.72	5.57	5.57	0.84162	.	0.143965	0.48767	D	0.000167	T	0.58864	0.2152	L	0.33485	1.01	0.50039	D	0.999843	D;D	0.58268	0.982;0.981	P;D	0.69824	0.676;0.966	T	0.51116	-0.8746	10	0.25751	T	0.34	-10.9305	19.5424	0.95280	0.0:1.0:0.0:0.0	.	382;1331	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1331;382;124	ENSP00000347152:S1331L;ENSP00000409624:S382L;ENSP00000307660:S124L	ENSP00000307660:S124L	S	+	2	0	ATRNL1	117597466	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.798000	0.75155	2.622000	0.88805	0.585000	0.79938	TCA	ATRNL1	-	NULL		0.468	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117607476	+1	no_errors	ENST00000355044	ensembl	human	known	70_37	missense	SNP	1.000	T
B2M	567	genome.wustl.edu	37	15	45007719	45007719	+	Nonsense_Mutation	SNP	G	G	T	rs11553042		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:45007719G>T	ENST00000558401.1	+	2	236	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	B2M_ENST00000559220.1_Intron|B2M_ENST00000559916.1_Nonsense_Mutation_p.E56*|B2M_ENST00000544417.1_Nonsense_Mutation_p.E56*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	56	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATCCGACATTGAAGTTGACTT	0.408																																																	0													184.0	189.0	187.0					15																	45007719		2198	4298	6496	SO:0001587	stop_gained	567			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.166G>T	15.37:g.45007719G>T	ENSP00000452780:p.Glu56*		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Nonsense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like	p.E56*	ENST00000558401.1	37	c.166	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812554	0.70912	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	.	.	.	6.03	3.04	0.35103	.	0.682486	0.14875	N	0.293325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.8394	0.23955	0.285:0.0:0.715:0.0	.	.	.	.	X	56	.	ENSP00000340858:E56X	E	+	1	0	B2M	42795011	0.020000	0.18652	0.775000	0.31657	0.009000	0.06853	0.152000	0.16302	1.469000	0.48083	0.655000	0.94253	GAA	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.408	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	G	NM_004048		45007719	+1	no_errors	ENST00000544417	ensembl	human	known	70_37	nonsense	SNP	0.202	T
BDP1	55814	genome.wustl.edu	37	5	70808182	70808182	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:70808182G>A	ENST00000358731.4	+	18	4437	c.4174G>A	c.(4174-4176)Gaa>Aaa	p.E1392K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1392					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAGACTCATGAATCTGATAA	0.338																																																	0													87.0	88.0	88.0					5																	70808182		1794	4072	5866	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4174G>A	5.37:g.70808182G>A	ENSP00000351575:p.Glu1392Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1392K	ENST00000358731.4	37	c.4174	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752451	0.49362	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10382	2.88	4.11	4.11	0.48088	.	0.833560	0.10350	N	0.685244	T	0.21718	0.0523	M	0.68952	2.095	0.52501	D	0.999953	P;P	0.44139	0.827;0.827	P;P	0.49192	0.602;0.602	T	0.01133	-1.1441	10	0.42905	T	0.14	.	12.0651	0.53583	0.0:0.0:1.0:0.0	.	1392;1392	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	1392;972	ENSP00000351575:E1392K	ENSP00000351575:E1392K	E	+	1	0	BDP1	70843938	0.005000	0.15991	0.021000	0.16686	0.119000	0.20118	1.189000	0.32114	2.285000	0.76669	0.655000	0.94253	GAA	BDP1	-	NULL		0.338	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70808182	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.042	A
C1QL1	10882	genome.wustl.edu	37	17	43044840	43044840	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:43044840C>T	ENST00000253407.3	-	1	599	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	193	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				locomotory behavior (GO:0007626)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)				lung(1)|prostate(1)	2		Prostate(33;0.155)				TTGCAGAGGTCTGCCCACATA	0.657																																																	0													51.0	47.0	48.0					17																	43044840		2202	4300	6502	SO:0001583	missense	10882			AF410771	CCDS11492.1	17q21	2010-08-18			ENSG00000131094	ENSG00000131094			24182	protein-coding gene	gene with protein product		611586				9878755	Standard	NM_006688		Approved	CRF, C1QRF, C1QTNF14	uc002ihv.3	O75973	OTTHUMG00000162944	ENST00000253407.3:c.577G>A	17.37:g.43044840C>T	ENSP00000253407:p.Asp193Asn			Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D193N	ENST00000253407.3	37	c.577	CCDS11492.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.089503	0.94149	.	.	ENSG00000131094	ENST00000253407	T	0.74737	-0.87	4.84	4.84	0.62591	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.73254	-0.4041	10	0.15952	T	0.53	.	15.4729	0.75453	0.0:1.0:0.0:0.0	.	193	O75973	C1QRF_HUMAN	N	193	ENSP00000253407:D193N	ENSP00000253407:D193N	D	-	1	0	C1QL1	40400366	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.556000	0.82233	2.506000	0.84524	0.462000	0.41574	GAC	C1QL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.657	C1QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL1	HGNC	protein_coding	OTTHUMT00000371119.3	C	NM_006688		43044840	-1	no_errors	ENST00000253407	ensembl	human	known	70_37	missense	SNP	1.000	T
RTCB	51493	genome.wustl.edu	37	22	32791044	32791044	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:32791044G>A	ENST00000216038.5	-	9	1246	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		GGGATGGTGAGGAGGGAAAGC	0.478																																																	0													232.0	163.0	186.0					22																	32791044		2203	4300	6503	SO:0001583	missense	51493			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1148C>T	22.37:g.32791044G>A	ENSP00000216038:p.Pro383Leu			Missense_Mutation	SNP	pfam_RtcB_family,superfamily_RtcB_family	p.P383L	ENST00000216038.5	37	c.1148	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731076	0.89390	.	.	ENSG00000100220	ENST00000216038	T	0.34472	1.36	5.79	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.75548	-0.3279	10	0.87932	D	0	-11.3991	12.5856	0.56416	0.1359:0.0:0.8641:0.0	.	383	Q9Y3I0	RTCB_HUMAN	L	383	ENSP00000216038:P383L	ENSP00000216038:P383L	P	-	2	0	C22orf28	31121044	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.906000	0.87423	1.459000	0.47892	0.555000	0.69702	CCT	C22orf28	-	pfam_RtcB_family,superfamily_RtcB_family		0.478	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf28	HGNC	protein_coding	OTTHUMT00000075188.3	G	NM_014306		32791044	-1	no_errors	ENST00000216038	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC93	54520	genome.wustl.edu	37	2	118703126	118703126	+	Missense_Mutation	SNP	C	C	G	rs577755174		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:118703126C>G	ENST00000376300.2	-	17	1466	c.1329G>C	c.(1327-1329)ttG>ttC	p.L443F	CCDC93_ENST00000319432.5_Missense_Mutation_p.L442F	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	443										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTGCAGAGGTCAAGGTACCAG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20846	0.0		0.0	False		,,,				2504	0.001																0													105.0	95.0	98.0					2																	118703126		2203	4300	6503	SO:0001583	missense	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1329G>C	2.37:g.118703126C>G	ENSP00000365477:p.Leu443Phe		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.L443F	ENST00000376300.2	37	c.1329	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708284	0.30322	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.20738	2.05;2.05	4.79	-5.36	0.02689	.	1.107710	0.06883	N	0.802861	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.29440	0.102	T	0.35251	-0.9796	10	0.56958	D	0.05	1.9094	1.9564	0.03377	0.1079:0.2399:0.2374:0.4147	.	443	Q567U6	CCD93_HUMAN	F	443;442	ENSP00000365477:L443F;ENSP00000324135:L442F	ENSP00000324135:L442F	L	-	3	2	CCDC93	118419596	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.353000	0.02617	-1.189000	0.02702	0.655000	0.94253	TTG	CCDC93	-	NULL		0.517	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	C	NM_019044		118703126	-1	no_errors	ENST00000376300	ensembl	human	known	70_37	missense	SNP	0.000	G
CCDC74B	91409	genome.wustl.edu	37	2	130900839	130900839	+	Intron	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:130900839C>T	ENST00000310463.6	-	2	433				CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409234.3_Missense_Mutation_p.E100K|CCDC74B_ENST00000392984.3_5'UTR	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B											endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCCCAGTTCTCACCTTTCTTC	0.542																																																	0													147.0	130.0	136.0					2																	130900839		2203	4300	6503	SO:0001627	intron_variant	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.295+2G>A	2.37:g.130900839C>T			Q6NW18	Missense_Mutation	SNP	NULL	p.E100K	ENST00000310463.6	37	c.298	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	8.123	0.781291	0.16120	.	.	ENSG00000152076	ENST00000409234;ENST00000441670	T	0.41065	1.01	2.21	1.02	0.19986	.	.	.	.	.	T	0.31009	0.0783	.	.	.	0.52501	D	0.999954	B	0.27823	0.19	B	0.30716	0.119	T	0.12734	-1.0536	8	0.66056	D	0.02	.	3.6643	0.08250	0.0:0.2267:0.0:0.7733	.	100	E9PG54	.	K	100;142	ENSP00000386303:E100K	ENSP00000386303:E100K	E	-	1	0	CCDC74B	130617309	0.839000	0.29477	0.365000	0.25901	0.237000	0.25408	0.155000	0.16362	0.124000	0.18369	0.298000	0.19748	GAG	CCDC74B	-	NULL		0.542	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	C	NM_207310		130900839	-1	no_errors	ENST00000409234	ensembl	human	putative	70_37	missense	SNP	0.607	T
CAPN10	11132	genome.wustl.edu	37	2	241535885	241535885	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:241535885C>T	ENST00000391984.2	+	8	1624	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Silent_p.D476D	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	476	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCCTGAAGGACGCGCCAGGGG	0.657																																																	0													57.0	62.0	61.0					2																	241535885		1994	4160	6154	SO:0001819	synonymous_variant	11132			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1428C>T	2.37:g.241535885C>T			A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D476	ENST00000391984.2	37	c.1428	CCDS42838.1	2																																																																																			CAPN10	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease		0.657	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	C	NM_023083		241535885	+1	no_errors	ENST00000391984	ensembl	human	known	70_37	silent	SNP	0.076	T
CCPG1	9236	genome.wustl.edu	37	15	55651779	55651779	+	Frame_Shift_Del	DEL	C	C	-	rs372895000		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:55651779delC	ENST00000310958.6	-	8	2490	c.2192delG	c.(2191-2193)agafs	p.R731fs	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Frame_Shift_Del_p.R731fs|CCPG1_ENST00000442196.3_Frame_Shift_Del_p.R731fs|CCPG1_ENST00000425574.3_Frame_Shift_Del_p.R348fs	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	731					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAAGAAGTGTCTATATATATA	0.333																																																	0													62.0	62.0	62.0					15																	55651779		1813	4057	5870	SO:0001589	frameshift_variant	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2192delG	15.37:g.55651779delC	ENSP00000311656:p.Arg731fs		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Del	DEL	NULL	p.R731fs	ENST00000310958.6	37	c.2192	CCDS42039.1	15																																																																																			CCPG1	-	NULL		0.333	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55651779	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
CDC25B	994	genome.wustl.edu	37	20	3782998	3782998	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr20:3782998G>A	ENST00000245960.5	+	11	1866	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CDC25B_ENST00000340833.4_Missense_Mutation_p.R349Q|CDC25B_ENST00000439880.2_Missense_Mutation_p.R376Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R299Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R326Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	390					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGTGACCACCGAGAGCTGATT	0.567																																																	0													61.0	60.0	61.0					20																	3782998		2203	4300	6503	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1169G>A	20.37:g.3782998G>A	ENSP00000245960:p.Arg390Gln		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.R390Q	ENST00000245960.5	37	c.1169	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090659	0.76756	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.85	3.89	0.44902	Rhodanese-like (1);	0.347042	0.27986	N	0.017051	T	0.39306	0.1073	L	0.61218	1.895	0.34710	D	0.72764	D;D;D;D;D;D	0.71674	0.969;0.969;0.969;0.982;0.982;0.998	B;B;B;B;B;P	0.54856	0.252;0.252;0.252;0.436;0.436;0.762	T	0.49341	-0.8950	10	0.12766	T	0.61	-23.5439	11.1044	0.48194	0.0927:0.0:0.9073:0.0	.	299;312;326;349;376;390	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	Q	326;299;390;376;349	ENSP00000339125:R326Q;ENSP00000368918:R299Q;ENSP00000245960:R390Q;ENSP00000405972:R376Q;ENSP00000339170:R349Q	ENSP00000245960:R390Q	R	+	2	0	CDC25B	3730998	0.002000	0.14202	0.836000	0.33094	0.849000	0.48306	1.199000	0.32235	1.171000	0.42768	0.563000	0.77884	CGA	CDC25B	-	superfamily_Rhodanese-like_dom		0.567	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	G	NM_021874		3782998	+1	no_errors	ENST00000245960	ensembl	human	known	70_37	missense	SNP	0.862	A
CDC42EP3	10602	genome.wustl.edu	37	2	37873588	37873588	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:37873588C>A	ENST00000295324.3	-	2	1143	c.143G>T	c.(142-144)gGc>gTc	p.G48V	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	48					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				ATCGTGCTGGCCCTCTTTGCC	0.483																																																	0													130.0	132.0	131.0					2																	37873588		2203	4300	6503	SO:0001583	missense	10602			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.143G>T	2.37:g.37873588C>A	ENSP00000295324:p.Gly48Val		B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.G48V	ENST00000295324.3	37	c.143	CCDS1791.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298457	0.81025	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	D;D	0.88124	-2.34;-2.34	5.91	5.91	0.95273	PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94292	0.7529	10	0.87932	D	0	.	17.7923	0.88558	0.0:1.0:0.0:0.0	.	48	Q9UKI2	BORG2_HUMAN	V	48	ENSP00000295324:G48V;ENSP00000403298:G48V	ENSP00000295324:G48V	G	-	2	0	CDC42EP3	37727092	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.663000	0.83820	2.793000	0.96121	0.655000	0.94253	GGC	CDC42EP3	-	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd		0.483	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP3	HGNC	protein_coding	OTTHUMT00000218581.3	C	NM_006449		37873588	-1	no_errors	ENST00000295324	ensembl	human	known	70_37	missense	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37649098	37649098	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:37649098G>A	ENST00000447079.4	+	4	2236	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	CDK12_ENST00000430627.2_Missense_Mutation_p.E735K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GATTATTGGAGAAGGAACCTA	0.368			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													80.0	82.0	81.0					17																	37649098		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2203G>A	17.37:g.37649098G>A	ENSP00000398880:p.Glu735Lys		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E735K	ENST00000447079.4	37	c.2203	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.073488	0.94000	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.65916	-0.18;-0.18	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48286	D	0.000190	T	0.74076	0.3669	L	0.35644	1.08	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.994	T	0.75156	-0.3417	10	0.87932	D	0	-17.2299	20.2576	0.98430	0.0:0.0:1.0:0.0	.	734;735;735	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	735	ENSP00000407720:E735K;ENSP00000398880:E735K	ENSP00000407720:E735K	E	+	1	0	CDK12	34902624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.783000	0.95769	0.655000	0.94253	GAA	CDK12	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.368	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	G	NM_016507		37649098	+1	no_errors	ENST00000447079	ensembl	human	known	70_37	missense	SNP	1.000	A
CDKL5	6792	genome.wustl.edu	37	X	18622355	18622355	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:18622355C>T	ENST00000379989.3	+	13	1596	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	CDKL5_ENST00000379996.3_Silent_p.N437N|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	437					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCAAGTCAAACAGCAGATCTC	0.453																																																	0			GRCh37	CI083366	CDKL5	I							118.0	119.0	119.0					X																	18622355		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1311C>T	X.37:g.18622355C>T			G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N437	ENST00000379989.3	37	c.1311	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.453	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	C	NM_003159		18622355	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.999	T
CELSR2	1952	genome.wustl.edu	37	1	109813168	109813168	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:109813168G>A	ENST00000271332.3	+	24	7490	c.7429G>A	c.(7429-7431)Ggc>Agc	p.G2477S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2477					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTCAACACCGGCCCCATGCG	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)												0													121.0	96.0	104.0					1																	109813168		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7429G>A	1.37:g.109813168G>A	ENSP00000271332:p.Gly2477Ser		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G2477S	ENST00000271332.3	37	c.7429	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311397	0.81358	.	.	ENSG00000143126	ENST00000271332	T	0.41065	1.01	4.22	3.28	0.37604	GPCR, family 2-like (1);	.	.	.	.	T	0.40196	0.1107	L	0.37750	1.13	0.35081	D	0.763387	D	0.89917	1.0	D	0.97110	1.0	T	0.38866	-0.9641	9	0.51188	T	0.08	.	11.5292	0.50597	0.0896:0.0:0.9103:0.0	.	2477	Q9HCU4	CELR2_HUMAN	S	2477	ENSP00000271332:G2477S	ENSP00000271332:G2477S	G	+	1	0	CELSR2	109614691	1.000000	0.71417	0.853000	0.33588	0.939000	0.58152	3.912000	0.56386	1.097000	0.41459	0.555000	0.69702	GGC	CELSR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109813168	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.993	A
CES3	23491	genome.wustl.edu	37	16	66998385	66998385	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:66998385C>G	ENST00000303334.4	+	5	757	c.686C>G	c.(685-687)tCt>tGt	p.S229C	CES3_ENST00000394037.1_Missense_Mutation_p.S229C|RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000543856.1_5'Flank	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	229						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTTGGTGGATCTGCCGGTGGG	0.582																																																	0													100.0	103.0	102.0					16																	66998385		2200	4300	6500	SO:0001583	missense	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.686C>G	16.37:g.66998385C>G	ENSP00000304782:p.Ser229Cys		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.S229C	ENST00000303334.4	37	c.686	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939952	0.73557	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.58358	0.34;0.34	4.13	4.13	0.48395	Carboxylesterase, type B (1);	0.000000	0.41097	D	0.000944	D	0.83238	0.5211	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90388	0.4393	10	0.87932	D	0	.	15.4933	0.75629	0.0:1.0:0.0:0.0	.	229	Q6UWW8	EST3_HUMAN	C	229	ENSP00000304782:S229C;ENSP00000377602:S229C	ENSP00000304782:S229C	S	+	2	0	CES3	65555886	0.999000	0.42202	0.027000	0.17364	0.008000	0.06430	4.820000	0.62671	2.259000	0.74868	0.655000	0.94253	TCT	CES3	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.582	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	C	NM_024922		66998385	+1	no_errors	ENST00000303334	ensembl	human	known	70_37	missense	SNP	0.985	G
CGNL1	84952	genome.wustl.edu	37	15	57754079	57754079	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:57754079G>A	ENST00000281282.5	+	8	2470	c.2392G>A	c.(2392-2394)Gaa>Aaa	p.E798K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	798						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGTGTGGAAGAAGCAACCAA	0.527																																																	0													81.0	77.0	78.0					15																	57754079		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2392G>A	15.37:g.57754079G>A	ENSP00000281282:p.Glu798Lys		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.E798K	ENST00000281282.5	37	c.2392	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724156	0.48728	.	.	ENSG00000128849	ENST00000281282	T	0.41758	0.99	5.56	5.56	0.83823	.	0.437153	0.20614	N	0.088911	T	0.32971	0.0847	L	0.31664	0.95	0.37910	D	0.931348	B	0.12630	0.006	B	0.10450	0.005	T	0.16217	-1.0410	10	0.44086	T	0.13	-10.9681	13.2397	0.59989	0.0826:0.0:0.9174:0.0	.	798	Q0VF96	CGNL1_HUMAN	K	798	ENSP00000281282:E798K	ENSP00000281282:E798K	E	+	1	0	CGNL1	55541371	1.000000	0.71417	0.910000	0.35882	0.767000	0.43475	5.056000	0.64287	2.618000	0.88619	0.551000	0.68910	GAA	CGNL1	-	prints_Tropomyosin		0.527	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	G	NM_032866		57754079	+1	no_errors	ENST00000281282	ensembl	human	known	70_37	missense	SNP	0.997	A
CIC	23152	genome.wustl.edu	37	19	42796810	42796810	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:42796810C>A	ENST00000575354.2	+	14	3308	c.3268C>A	c.(3268-3270)Cct>Act	p.P1090T	CIC_ENST00000160740.3_Missense_Mutation_p.P1089T|CIC_ENST00000572681.2_Missense_Mutation_p.P1998T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1090	Pro-rich.				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)				CCCCGGAGGTCCTGTCATAAC	0.667			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													55.0	63.0	60.0					19																	42796810		2203	4300	6503	SO:0001583	missense	23152			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.3268C>A	19.37:g.42796810C>A	ENSP00000458663:p.Pro1090Thr		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P1090T	ENST00000575354.2	37	c.3268	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906490	0.52333	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.34716	0.0907	N	0.14661	0.345	0.39715	D	0.971383	P	0.37466	0.596	B	0.32211	0.142	T	0.44757	-0.9307	8	0.87932	D	0	-10.7595	13.7669	0.63002	0.0:1.0:0.0:0.0	.	1090	Q96RK0	CIC_HUMAN	T	1090	.	ENSP00000160740:P1090T	P	+	1	0	CIC	47488650	0.999000	0.42202	0.964000	0.40570	0.789000	0.44602	3.406000	0.52637	2.639000	0.89480	0.491000	0.48974	CCT	CIC	-	NULL		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	C			42796810	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	0.997	A
CLCN5	1184	genome.wustl.edu	37	X	49855455	49855455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:49855455delT	ENST00000307367.2	+	11	2353	c.2062delT	c.(2062-2064)ttcfs	p.F688fs	CLCN5_ENST00000376091.3_Frame_Shift_Del_p.F758fs|CLCN5_ENST00000376108.3_Frame_Shift_Del_p.F688fs|CLCN5_ENST00000376088.3_Frame_Shift_Del_p.F758fs			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	688	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TCTCAGCCCCTTCACTGTGAC	0.493																																																	0													152.0	120.0	131.0					X																	49855455		2203	4300	6503	SO:0001589	frameshift_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2062delT	X.37:g.49855455delT	ENSP00000304257:p.Phe688fs		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Frame_Shift_Del	DEL	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.F758fs	ENST00000307367.2	37	c.2272	CCDS14328.1	X																																																																																			CLCN5	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.493	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	T			49855455	+1	no_errors	ENST00000376088	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
CLCN5	1184	genome.wustl.edu	37	X	49855456	49855456	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:49855456T>C	ENST00000307367.2	+	11	2354	c.2063T>C	c.(2062-2064)tTc>tCc	p.F688S	CLCN5_ENST00000376091.3_Missense_Mutation_p.F758S|CLCN5_ENST00000376108.3_Missense_Mutation_p.F688S|CLCN5_ENST00000376088.3_Missense_Mutation_p.F758S			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	688	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTCAGCCCCTTCACTGTGACT	0.498																																																	0													150.0	119.0	129.0					X																	49855456		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2063T>C	X.37:g.49855456T>C	ENSP00000304257:p.Phe688Ser		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.F758S	ENST00000307367.2	37	c.2273	CCDS14328.1	X	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483548	0.84854	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.27	5.27	0.74061	Cystathionine beta-synthase, core (3);	0.043082	0.85682	D	0.000000	D	0.95974	0.8689	M	0.71036	2.16	0.80722	D	1	D;D	0.76494	0.974;0.999	P;D	0.79108	0.763;0.992	D	0.96294	0.9216	10	0.72032	D	0.01	-0.3509	13.3953	0.60849	0.0:0.0:0.0:1.0	.	688;758	P51795;P51795-2	CLCN5_HUMAN;.	S	758;590;758;688;688	ENSP00000365256:F758S;ENSP00000365259:F758S;ENSP00000365276:F688S;ENSP00000304257:F688S	ENSP00000304257:F688S	F	+	2	0	CLCN5	49742196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.910000	0.87451	1.875000	0.54330	0.486000	0.48141	TTC	CLCN5	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core		0.498	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	T			49855456	+1	no_errors	ENST00000376088	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	146829596	146829596	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:146829596C>G	ENST00000361727.3	+	8	1859	c.1343C>G	c.(1342-1344)tCc>tGc	p.S448C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	448	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCGATATTTCCTCAGGTCAG	0.408										HNSCC(39;0.1)																																							0													102.0	86.0	91.0					7																	146829596		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1343C>G	7.37:g.146829596C>G	ENSP00000354778:p.Ser448Cys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S448C	ENST00000361727.3	37	c.1343	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710568	0.68730	.	.	ENSG00000174469	ENST00000361727	T	0.80304	-1.36	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.605009	0.14860	N	0.294161	D	0.88194	0.6371	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	D	0.87645	0.2524	10	0.62326	D	0.03	.	18.3791	0.90444	0.0:1.0:0.0:0.0	.	448	Q9UHC6	CNTP2_HUMAN	C	448	ENSP00000354778:S448C	ENSP00000354778:S448C	S	+	2	0	CNTNAP2	146460529	1.000000	0.71417	0.993000	0.49108	0.613000	0.37349	5.651000	0.67951	2.682000	0.91365	0.585000	0.79938	TCC	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	C			146829596	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	G
COL21A1	81578	genome.wustl.edu	37	6	56006594	56006594	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:56006594C>T	ENST00000244728.5	-	12	1928	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D508N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D511N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	511	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGTCACCATCTCGCCCTGGT	0.373																																																	0													177.0	161.0	166.0					6																	56006594		1926	4140	6066	SO:0001583	missense	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1531G>A	6.37:g.56006594C>T	ENSP00000244728:p.Asp511Asn		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.D511N	ENST00000244728.5	37	c.1531	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512012	0.44660	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.83755	-1.76;-1.76;-1.76	5.15	5.15	0.70609	.	0.097942	0.42053	D	0.000771	T	0.76758	0.4032	L	0.39898	1.24	0.80722	D	1	P;P	0.51537	0.89;0.946	B;P	0.51487	0.245;0.671	T	0.74928	-0.3497	10	0.28530	T	0.3	.	14.4967	0.67694	0.0:1.0:0.0:0.0	.	508;511	Q96P44-3;Q96P44	.;COLA1_HUMAN	N	511;508;511;508	ENSP00000244728:D511N;ENSP00000359855:D508N;ENSP00000444384:D511N	ENSP00000244728:D511N	D	-	1	0	COL21A1	56114553	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.456000	0.53000	2.565000	0.86533	0.655000	0.94253	GAT	COL21A1	-	pfam_Collagen		0.373	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	C			56006594	-1	no_errors	ENST00000244728	ensembl	human	known	70_37	missense	SNP	1.000	T
COPE	11316	genome.wustl.edu	37	19	19010503	19010503	+	Silent	SNP	G	G	A	rs377486646		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:19010503G>A	ENST00000262812.4	-	10	960	c.912C>T	c.(910-912)taC>taT	p.Y304Y	COPE_ENST00000600932.1_Silent_p.Y327Y|COPE_ENST00000351079.4_Silent_p.Y253Y|COPE_ENST00000349893.4_Silent_p.Y252Y|CERS1_ENST00000542296.2_5'Flank|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	304					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CGCTGGGAGCGTACTGTAGCA	0.637																																																	0								G	,,	0,4406		0,0,2203	61.0	57.0	59.0		912,759,756	-7.1	0.1	19		59	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	COPE	NM_007263.3,NM_199442.1,NM_199444.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	304/309,253/258,252/257	19010503	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.912C>T	19.37:g.19010503G>A			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Silent	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.Y304	ENST00000262812.4	37	c.912	CCDS12387.1	19																																																																																			COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.637	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19010503	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	silent	SNP	0.994	A
CPB2	1361	genome.wustl.edu	37	13	46638848	46638848	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr13:46638848A>C	ENST00000181383.4	-	8	747	c.731T>G	c.(730-732)tTc>tGc	p.F244C	CPB2_ENST00000439329.3_Missense_Mutation_p.F207C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	244					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GTTCGCATAGAAAGAACGGTT	0.413																																																	0													168.0	141.0	150.0					13																	46638848		2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.731T>G	13.37:g.46638848A>C	ENSP00000181383:p.Phe244Cys		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.F244C	ENST00000181383.4	37	c.731	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	A	7.967	0.748159	0.15710	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.10382	2.88;2.88	5.66	-10.9	0.00192	Peptidase M14, carboxypeptidase A (2);	1.815870	0.01862	N	0.036641	T	0.09642	0.0237	L	0.43152	1.355	0.09310	N	1	B;P	0.35328	0.297;0.495	B;B	0.43194	0.333;0.411	T	0.38001	-0.9681	10	0.38643	T	0.18	.	2.3272	0.04226	0.2281:0.0906:0.3524:0.329	.	207;244	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	C	244;207	ENSP00000181383:F244C;ENSP00000400714:F207C	ENSP00000181383:F244C	F	-	2	0	CPB2	45536849	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.179000	0.03090	-1.408000	0.02040	-1.621000	0.00791	TTC	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.413	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	A	NM_001872		46638848	-1	no_errors	ENST00000181383	ensembl	human	known	70_37	missense	SNP	0.000	C
CRYGB	1419	genome.wustl.edu	37	2	209010507	209010507	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:209010507G>A	ENST00000260988.4	-	2	290	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	81	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCGGGGGGATGAGGCAGCAGG	0.498																																																	0													47.0	52.0	50.0					2																	209010507		2196	4290	6486	SO:0001819	synonymous_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.243C>T	2.37:g.209010507G>A			Q17RB5|Q53ST2	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.L81	ENST00000260988.4	37	c.243	CCDS2380.1	2																																																																																			CRYGB	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.498	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGB	HGNC	protein_coding	OTTHUMT00000256473.2	G	NM_005210		209010507	-1	no_errors	ENST00000260988	ensembl	human	known	70_37	silent	SNP	0.997	A
CSMD1	64478	genome.wustl.edu	37	8	3059184	3059184	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr8:3059184delC	ENST00000520002.1	-	33	5606	c.5051delG	c.(5050-5052)ggafs	p.G1684fs	CSMD1_ENST00000602557.1_Frame_Shift_Del_p.G1684fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.G1684fs|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.G1683fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.G1684fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.G1683fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.G1683fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1684	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCATGGGTTCCATCAAATAA	0.448																																																	0													59.0	65.0	63.0					8																	3059184		1880	4121	6001	SO:0001589	frameshift_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5051delG	8.37:g.3059184delC	ENSP00000430733:p.Gly1684fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G1684fs	ENST00000520002.1	37	c.5051		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3059184	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
CTNNA2	1496	genome.wustl.edu	37	2	80773162	80773162	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:80773162C>T	ENST00000402739.4	+	10	1519	c.1514C>T	c.(1513-1515)tCa>tTa	p.S505L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S184L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S505L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S539L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S505L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	505					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.S505*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACATCACCTCAGTGGATGAC	0.512																																																	1	Substitution - Nonsense(1)	lung(1)											67.0	76.0	73.0					2																	80773162		2062	4201	6263	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1514C>T	2.37:g.80773162C>T	ENSP00000384638:p.Ser505Leu		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S539L	ENST00000402739.4	37	c.1616		2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927288	0.92389	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.76574	2.34	0.58432	D	0.999999	P;D;D;D	0.63046	0.822;0.987;0.984;0.992	B;P;P;P	0.51266	0.202;0.639;0.664;0.586	T	0.52230	-0.8603	9	.	.	.	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	137;505;505;505	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	505;505;539;505;505;505;184;170	ENSP00000418191:S505L;ENSP00000419295:S505L;ENSP00000355398:S539L;ENSP00000384638:S505L;ENSP00000444675:S505L;ENSP00000441705:S505L;ENSP00000341500:S184L;ENSP00000386587:S170L	.	S	+	2	0	CTNNA2	80626673	1.000000	0.71417	0.958000	0.39756	0.959000	0.62525	5.959000	0.70339	2.786000	0.95864	0.561000	0.74099	TCA	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	C	NM_004389		80773162	+1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	0.994	T
DCAF6	55827	genome.wustl.edu	37	1	167973911	167973911	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:167973911C>G	ENST00000312263.6	+	10	1462	c.1258C>G	c.(1258-1260)Cag>Gag	p.Q420E	DCAF6_ENST00000367843.3_Missense_Mutation_p.Q420E|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q389E|DCAF6_ENST00000367840.3_Missense_Mutation_p.Q420E	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	420					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						aatgtcagctcaggctcaTTC	0.458																																																	0													97.0	88.0	91.0					1																	167973911		2203	4300	6503	SO:0001583	missense	55827			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1258C>G	1.37:g.167973911C>G	ENSP00000311949:p.Gln420Glu		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.Q420E	ENST00000312263.6	37	c.1258	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114122	0.37339	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80994	-1.44;0.34;-1.41;-1.4	5.17	5.17	0.71159	WD40 repeat-like-containing domain (1);	0.400112	0.26227	N	0.025590	T	0.54255	0.1847	L	0.29908	0.895	0.30245	N	0.794599	B;B;B;B	0.25850	0.034;0.136;0.049;0.001	B;B;B;B	0.26864	0.023;0.074;0.022;0.004	T	0.56372	-0.7990	9	0.05436	T	0.98	.	17.2269	0.86973	0.0:1.0:0.0:0.0	.	389;420;420;420	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	E	420;389;420;420	ENSP00000356817:Q420E;ENSP00000396238:Q389E;ENSP00000311949:Q420E;ENSP00000356814:Q420E	ENSP00000311949:Q420E	Q	+	1	0	DCAF6	166240535	1.000000	0.71417	0.607000	0.28956	0.979000	0.70002	5.214000	0.65236	2.552000	0.86080	0.555000	0.69702	CAG	DCAF6	-	superfamily_WD40_repeat_dom		0.458	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	C	NM_018442		167973911	+1	no_errors	ENST00000367840	ensembl	human	known	70_37	missense	SNP	0.997	G
DDB1	1642	genome.wustl.edu	37	11	61084025	61084025	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:61084025G>A	ENST00000301764.7	-	11	1637	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	414	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTCAGACCGCAGTGGCCAT	0.532								Nucleotide excision repair (NER)																																									0													155.0	137.0	143.0					11																	61084025		2203	4299	6502	SO:0001583	missense	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1240C>T	11.37:g.61084025G>A	ENSP00000301764:p.Arg414Trp		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R414W	ENST00000301764.7	37	c.1240	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051745	0.75960	.	.	ENSG00000167986	ENST00000301764;ENST00000535967;ENST00000539739;ENST00000535174	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.23	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.75252	-0.3383	10	0.87932	D	0	-17.8306	11.6339	0.51192	0.0:0.0:0.3901:0.6099	.	414;414	B7Z2A1;Q16531	.;DDB1_HUMAN	W	414;65;133;197	ENSP00000301764:R414W;ENSP00000437713:R65W;ENSP00000445563:R133W;ENSP00000446044:R197W	ENSP00000301764:R414W	R	-	1	2	DDB1	60840601	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.019000	0.57181	1.196000	0.43129	0.643000	0.83706	CGG	DDB1	-	NULL		0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	G	NM_001923		61084025	-1	no_errors	ENST00000301764	ensembl	human	known	70_37	missense	SNP	1.000	A
DENND5B	160518	genome.wustl.edu	37	12	31540647	31540647	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:31540647C>T	ENST00000389082.5	-	21	3979	c.3715G>A	c.(3715-3717)Gct>Act	p.A1239T	DENND5B_ENST00000306833.6_Missense_Mutation_p.A1274T|DENND5B_ENST00000536562.1_Missense_Mutation_p.A1274T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1239	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGCAGGAGAGCGCTCTCTTCA	0.493																																																	0													99.0	95.0	96.0					12																	31540647		2030	4191	6221	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3715G>A	12.37:g.31540647C>T	ENSP00000373734:p.Ala1239Thr		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.A1274T	ENST00000389082.5	37	c.3820	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.688898	0.96784	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.30448	1.53;1.53;1.53	5.2	5.2	0.72013	RUN (3);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61592	0.883;0.891	T	0.55515	-0.8129	10	0.87932	D	0	-2.5412	18.9092	0.92475	0.0:1.0:0.0:0.0	.	1239;1274	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	T	1239;1274;1274	ENSP00000373734:A1239T;ENSP00000306482:A1274T;ENSP00000444889:A1274T	ENSP00000306482:A1274T	A	-	1	0	DENND5B	31431914	1.000000	0.71417	0.931000	0.37212	0.993000	0.82548	7.416000	0.80143	2.714000	0.92807	0.591000	0.81541	GCT	DENND5B	-	pfam_Run,smart_Run,pfscan_Run		0.493	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31540647	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3729211	3729211	+	Silent	SNP	G	G	A	rs369261142		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:3729211G>A	ENST00000315677.3	-	7	2110	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	DLGAP1_ENST00000581699.1_Silent_p.D211D|DLGAP1_ENST00000539435.1_Silent_p.D203D|DLGAP1_ENST00000534970.1_Silent_p.D217D|DLGAP1_ENST00000400155.1_Silent_p.D211D|DLGAP1_ENST00000584874.1_Silent_p.D505D|DLGAP1_ENST00000400150.3_Silent_p.D211D|DLGAP1_ENST00000400145.2_Silent_p.D203D|DLGAP1_ENST00000581527.1_Silent_p.D505D|DLGAP1_ENST00000400147.2_Silent_p.D203D|DLGAP1_ENST00000400149.3_Silent_p.D213D|DLGAP1_ENST00000515196.2_Silent_p.D505D|DLGAP1_ENST00000478161.1_5'UTR	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	505					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCACTCGTCGTCCTGGGAGC	0.682																																																	0								G	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	54.0	41.0	46.0		609,1515,651,651,633,609,609,1515	1.6	1.0	18		46	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLGAP1	NM_001003809.2,NM_001242761.1,NM_001242762.1,NM_001242763.1,NM_001242764.1,NM_001242765.1,NM_001242766.1,NM_004746.3	,,,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	203/676,505/930,217/662,217/700,211/684,203/628,203/686,505/978	3729211	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1515C>T	18.37:g.3729211G>A			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.D505	ENST00000315677.3	37	c.1515	CCDS11836.1	18																																																																																			DLGAP1	-	NULL		0.682	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	G			3729211	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	silent	SNP	0.996	A
DNAJC28	54943	genome.wustl.edu	37	21	34860889	34860889	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:34860889C>T	ENST00000314399.3	-	2	1250	c.812G>A	c.(811-813)aGa>aAa	p.R271K	DNAJC28_ENST00000381947.3_Missense_Mutation_p.R271K|DNAJC28_ENST00000402202.1_Missense_Mutation_p.R271K	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	271										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						AATTGCCTCTCTGAGTTGCTC	0.398																																																	0													177.0	175.0	176.0					21																	34860889		2203	4300	6503	SO:0001583	missense	54943			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.812G>A	21.37:g.34860889C>T	ENSP00000320303:p.Arg271Lys		D3DSF2	Missense_Mutation	SNP	pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.R271K	ENST00000314399.3	37	c.812	CCDS13626.1	21	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072305	0.76415	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.37	5.37	0.77165	DnaJ homologue, subfamily C, member 28, conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.47016	1.485	0.45354	D	0.998349	D	0.89917	1.0	D	0.87578	0.998	T	0.72704	-0.4213	9	0.39692	T	0.17	-21.5029	18.7084	0.91646	0.0:1.0:0.0:0.0	.	271	Q9NX36	DJC28_HUMAN	K	271	.	ENSP00000320303:R271K	R	-	2	0	DNAJC28	33782759	1.000000	0.71417	0.917000	0.36280	0.917000	0.54804	7.116000	0.77119	2.526000	0.85167	0.650000	0.86243	AGA	DNAJC28	-	pfam_DnaJ_homolog_subfam-C_membr-28		0.398	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC28	HGNC	protein_coding	OTTHUMT00000140454.3	C			34860889	-1	no_errors	ENST00000314399	ensembl	human	known	70_37	missense	SNP	0.997	T
DOK3	79930	genome.wustl.edu	37	5	176936488	176936488	+	Silent	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:176936488G>T	ENST00000357198.4	-	2	226	c.222C>A	c.(220-222)gtC>gtA	p.V74V	DOK3_ENST00000501403.2_Silent_p.V18V|DOK3_ENST00000377112.4_Silent_p.V18V|DOK3_ENST00000312943.6_Silent_p.V18V	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	74	PH.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCCAAACTTGACATGCTGCT	0.637																																																	0													80.0	82.0	81.0					5																	176936488		2203	4300	6503	SO:0001819	synonymous_variant	79930			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.222C>A	5.37:g.176936488G>T			E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.V74	ENST00000357198.4	37	c.222	CCDS4426.1	5																																																																																			DOK3	-	smart_Pleckstrin_homology		0.637	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	G	NM_024872		176936488	-1	no_errors	ENST00000357198	ensembl	human	known	70_37	silent	SNP	0.495	T
DST	667	genome.wustl.edu	37	6	56468158	56468158	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:56468158C>T	ENST00000361203.3	-	38	10376	c.10369G>A	c.(10369-10371)Gaa>Aaa	p.E3457K	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E3457K|DST_ENST00000370754.5_Missense_Mutation_p.E3635K|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E3457K|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.E3131K			Q03001	DYST_HUMAN	dystonin	3457					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAAACTCTTCTGCCAACTTC	0.393																																																	0													40.0	41.0	41.0					6																	56468158		876	1991	2867	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10369G>A	6.37:g.56468158C>T	ENSP00000354508:p.Glu3457Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3635K	ENST00000361203.3	37	c.10903		6	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037575	0.54896	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.46	5.46	0.80206	.	0.000000	0.51477	D	0.000085	T	0.51822	0.1697	.	.	.	0.33031	D	0.530176	.	.	.	.	.	.	T	0.33954	-0.9848	6	0.29301	T	0.29	.	19.6771	0.95939	0.0:1.0:0.0:0.0	.	.	.	.	K	3635;3457;3131;3457;3457	ENSP00000359790:E3635K;ENSP00000359805:E3457K;ENSP00000393645:E3131K;ENSP00000307959:E3457K;ENSP00000354508:E3457K	ENSP00000307959:E3457K	E	-	1	0	DST	56576117	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.296000	0.59055	2.732000	0.93576	0.655000	0.94253	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56468158	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	T
DTNA	1837	genome.wustl.edu	37	18	32443934	32443934	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:32443934C>T	ENST00000399113.3	+	16	1570	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	DTNA_ENST00000601125.1_Missense_Mutation_p.R146C|DTNA_ENST00000269190.7_Missense_Mutation_p.R525C|DTNA_ENST00000399121.5_Missense_Mutation_p.R464C|DTNA_ENST00000591182.1_Missense_Mutation_p.R172C|DTNA_ENST00000595022.1_Missense_Mutation_p.R464C|DTNA_ENST00000596745.1_Missense_Mutation_p.R274C|DTNA_ENST00000399097.3_Missense_Mutation_p.R172C|DTNA_ENST00000597599.1_Missense_Mutation_p.R464C|DTNA_ENST00000348997.5_Missense_Mutation_p.R521C|DTNA_ENST00000283365.9_Missense_Mutation_p.R467C|DTNA_ENST00000598774.1_Missense_Mutation_p.R467C|DTNA_ENST00000599844.1_Splice_Site_p.S144S|DTNA_ENST00000598334.1_Missense_Mutation_p.R464C|DTNA_ENST00000597674.1_Missense_Mutation_p.R146C|DTNA_ENST00000444659.1_Missense_Mutation_p.R524C|DTNA_ENST00000269192.7_Missense_Mutation_p.R233C|DTNA_ENST00000598142.1_Missense_Mutation_p.R467C|DTNA_ENST00000269191.6_Missense_Mutation_p.R524C|DTNA_ENST00000556414.3_Missense_Mutation_p.R176C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	524					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						TCTTAGACAGCGCAAAGATGA	0.488																																																	0													59.0	57.0	58.0					18																	32443934		2203	4300	6503	SO:0001583	missense	1837			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.1570C>T	18.37:g.32443934C>T	ENSP00000382064:p.Arg524Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R525C	ENST00000399113.3	37	c.1573	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105508	0.77096	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T	0.26518	1.76;1.73;1.86;1.73;1.86;1.73	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.991;0.999;0.998;0.999;0.999;0.999;0.997;0.999;0.999;0.997;0.998;0.996	T	0.59289	-0.7482	10	0.87932	D	0	-15.4736	15.045	0.71822	0.3331:0.6669:0.0:0.0	.	176;233;214;274;524;524;464;467;172;521;464;475;467;467	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	C	467;467;464;525;172;521;524;524;524;524;233;172;176	ENSP00000283365:R467C;ENSP00000269190:R525C;ENSP00000336682:R521C;ENSP00000405819:R524C;ENSP00000269191:R524C;ENSP00000382064:R524C	ENSP00000269190:R525C	R	+	1	0	DTNA	30697932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.478000	0.35442	1.459000	0.47892	0.655000	0.94253	CGC	DTNA	-	pirsf_Distrobrevin		0.488	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	C	NM_001390		32443934	+1	no_errors	ENST00000269190	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF5	1983	genome.wustl.edu	37	14	103806896	103806896	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:103806896G>A	ENST00000216554.3	+	11	1880	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	EIF5_ENST00000392715.2_Missense_Mutation_p.E402K|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000558506.1_Missense_Mutation_p.E402K	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	402	Asp/Glu-rich (highly acidic).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGAGAACATTGAGGTAAACAT	0.423																																																	0													73.0	75.0	75.0					14																	103806896		2203	4300	6503	SO:0001583	missense	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1204G>A	14.37:g.103806896G>A	ENSP00000216554:p.Glu402Lys		Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain	p.E402K	ENST00000216554.3	37	c.1204	CCDS9980.1	14	.	.	.	.	.	.	.	.	.	.	.	36	5.858071	0.97036	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.90324	-2.65;-2.65	6.1	6.1	0.99115	.	0.107780	0.64402	D	0.000005	D	0.91882	0.7430	M	0.83483	2.645	0.80722	D	1	P	0.35807	0.522	B	0.35931	0.214	D	0.91296	0.5063	10	0.54805	T	0.06	-9.9494	18.8952	0.92420	0.0:0.0:1.0:0.0	.	402	P55010	IF5_HUMAN	K	402	ENSP00000216554:E402K;ENSP00000376477:E402K	ENSP00000216554:E402K	E	+	1	0	EIF5	102876649	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.403000	0.97302	2.902000	0.99343	0.650000	0.86243	GAG	EIF5	-	NULL		0.423	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5	HGNC	protein_coding	OTTHUMT00000415329.2	G	NM_001969		103806896	+1	no_errors	ENST00000216554	ensembl	human	known	70_37	missense	SNP	1.000	A
E2F4	1874	genome.wustl.edu	37	16	67233630	67233630	+	IGR	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:67233630G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Missense_Mutation_p.D108N|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000360833.1_Missense_Mutation_p.D108N|ELMO3_ENST00000477898.1_De_novo_Start_OutOfFrame	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCAGTTTGCGGATGGGCACCG	0.677																																																	0													50.0	58.0	55.0					16																	67233630		2079	4201	6280	SO:0001628	intergenic_variant	79767			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233630G>A			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.D108N	ENST00000379378.3	37	c.322	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.892562	0.97074	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.20069	2.13;2.1	5.19	5.19	0.71726	.	0.061455	0.64402	U	0.000008	T	0.47414	0.1444	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.45220	-0.9276	10	0.56958	D	0.05	-6.1615	17.3023	0.87185	0.0:0.0:1.0:0.0	.	108;108	F8W9E7;Q96BJ8-3	.;.	N	108	ENSP00000354077:D108N;ENSP00000377566:D108N	ENSP00000354077:D108N	D	+	1	0	ELMO3	65791131	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	8.766000	0.91728	2.416000	0.81992	0.563000	0.77884	GAT	ELMO3	-	NULL		0.677	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	G	NM_001950		67233630	+1	no_errors	ENST00000393997	ensembl	human	known	70_37	missense	SNP	1.000	A
BCRP7	100133163	genome.wustl.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A				RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008103.5	-	-		0.557	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1	G			18844766	+1	no_errors	ENST00000412938	ensembl	human	known	70_37	rna	SNP	0.223	A
CHCHD3	54927	genome.wustl.edu	37	7	132719526	132719526	+	Intron	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:132719526C>T	ENST00000262570.5	-	3	314				CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000542753.1_Intron|CHCHD3_ENST00000448878.1_Intron	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3						inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CTGGACTCAGCGGAAAGGCAA	0.532																																																	0																																										SO:0001627	intron_variant	0			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.170-10139G>A	7.37:g.132719526C>T				Silent	SNP	pfam_Transl_elong_EF1_G_con,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,pfscan_Transl_elong_EF1_G_con	p.P154	ENST00000262570.5	37	c.462	CCDS5828.1	7																																																																																			hsa-mir-3654	-	superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con		0.532	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000232856	miRBase	protein_coding	OTTHUMT00000338899.1	C	NM_017812		132719526	-1	no_errors	ENST00000448615	ensembl	human	known	70_37	silent	SNP	0.951	T
ZNF155	7711	genome.wustl.edu	37	19	44503364	44503364	+	IGR	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:44503364G>C	ENST00000270014.2	+	0	2596				RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AATCCATGCTGATGATACATT	0.398																																					NSCLC(61;554 1277 20909 42067 42312)												0													81.0	77.0	78.0					19																	44503364		876	1991	2867	SO:0001628	intergenic_variant	0			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901			19.37:g.44503364G>C			A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	RNA	SNP	-	NULL	ENST00000270014.2	37	NULL	CCDS12634.1	19																																																																																			RP11-15A1.7	-	-		0.398	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000266921	Clone_based_vega_gene	protein_coding	OTTHUMT00000460074.1	G	NM_003445		44503364	-1	no_errors	ENST00000586860	ensembl	human	known	70_37	rna	SNP	0.346	C
EPHB2	2048	genome.wustl.edu	37	1	23208941	23208941	+	Missense_Mutation	SNP	G	G	T	rs371215652		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:23208941G>T	ENST00000400191.3	+	6	1411	c.1393G>T	c.(1393-1395)Gtg>Ttg	p.V465L	EPHB2_ENST00000544305.1_Missense_Mutation_p.V465L|EPHB2_ENST00000374627.1_Missense_Mutation_p.V459L|EPHB2_ENST00000374632.3_Missense_Mutation_p.V465L|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.V465L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	465	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCCCAATGGCGTGATCCTGGA	0.607																																																	0													149.0	138.0	141.0					1																	23208941		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1393G>T	1.37:g.23208941G>T	ENSP00000383053:p.Val465Leu		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V465L	ENST00000400191.3	37	c.1393		1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073727	0.55646	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.1	4.1	0.47936	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149500	0.44483	D	0.000458	T	0.41789	0.1174	L	0.39085	1.19	0.47037	D	0.999295	B;B;B;B	0.18013	0.006;0.025;0.014;0.004	B;B;B;B	0.25614	0.009;0.062;0.062;0.037	T	0.39354	-0.9618	10	0.51188	T	0.08	.	8.9436	0.35745	0.1041:0.0:0.8959:0.0	.	465;465;483;465	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	L	465;465;465;465;465;459	ENSP00000444174:V465L;ENSP00000363761:V465L;ENSP00000383053:V465L;ENSP00000363763:V465L;ENSP00000363758:V459L	ENSP00000363755:V465L	V	+	1	0	EPHB2	23081528	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	5.497000	0.66924	2.123000	0.65237	0.491000	0.48974	GTG	EPHB2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.607	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	G	NM_017449		23208941	+1	no_errors	ENST00000400191	ensembl	human	known	70_37	missense	SNP	0.987	T
ESRP2	80004	genome.wustl.edu	37	16	68266312	68266313	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:68266312_68266313GC>AA	ENST00000565858.1	-	8	1031_1032	c.945_946GC>TT	c.(943-948)ctGCag>ctTTag	p.Q316*	ESRP2_ENST00000473183.2_Nonsense_Mutation_p.Q306*	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	316	RRM 1.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTGTGTCTCTGCAGCGCTAGGT	0.634																																																	0																																										SO:0001587	stop_gained	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.945_946delinsAA	16.37:g.68266312_68266313delinsAA	ENSP00000454554:p.Gln316*		Q8N6H8|Q8WZ15|Q9H6I4	Nonsense_Mutation|Silent	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.Q316*|p.L315	ENST00000565858.1	37	c.946|c.945		16																																																																																			ESRP2	-	smart_RRM_dom		0.634	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	G|C	NM_024939		68266312|68266313	-1	no_errors	ENST00000565858	ensembl	human	known	70_37	nonsense|silent	SNP	1.000	A
FAM184A	79632	genome.wustl.edu	37	6	119345412	119345412	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:119345412C>A	ENST00000338891.7	-	2	1169	c.726G>T	c.(724-726)aaG>aaT	p.K242N	FAM184A_ENST00000522284.1_Missense_Mutation_p.K122N|FAM184A_ENST00000352896.5_Missense_Mutation_p.K122N|FAM184A_ENST00000521531.1_Missense_Mutation_p.K242N|FAM184A_ENST00000368475.4_Missense_Mutation_p.K122N|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	242						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAATTAGTTTCTTCCGTTCAA	0.408																																																	0													100.0	90.0	93.0					6																	119345412		1902	4112	6014	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.726G>T	6.37:g.119345412C>A	ENSP00000342604:p.Lys242Asn		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.K242N	ENST00000338891.7	37	c.726	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	9.734	1.162971	0.21538	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00358	7.88;7.88;7.88;7.88;7.88	5.51	-3.79	0.04320	.	0.262385	0.41500	D	0.000867	T	0.00178	0.0005	L	0.54323	1.7	0.34809	D	0.737494	D;P;D	0.55800	0.973;0.694;0.973	P;B;P	0.56434	0.798;0.436;0.705	T	0.55774	-0.8088	10	0.23302	T	0.38	-13.4737	13.0599	0.59002	0.0:0.5344:0.0:0.4656	.	242;122;242	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	N	242;122;122;242;122	ENSP00000342604:K242N;ENSP00000326608:K122N;ENSP00000357460:K122N;ENSP00000430442:K242N;ENSP00000429826:K122N	ENSP00000342604:K242N	K	-	3	2	FAM184A	119387111	0.996000	0.38824	0.000000	0.03702	0.003000	0.03518	0.479000	0.22228	-0.836000	0.04229	-0.345000	0.07892	AAG	FAM184A	-	NULL		0.408	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	C	NM_024581		119345412	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	0.200	A
BRINP2	57795	genome.wustl.edu	37	1	177226388	177226388	+	Silent	SNP	A	A	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:177226388A>T	ENST00000361539.4	+	4	849	c.537A>T	c.(535-537)atA>atT	p.I179I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	179	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GTGCCTCTATAATCGGGGGCA	0.552																																																	0													71.0	70.0	70.0					1																	177226388		2203	4300	6503	SO:0001819	synonymous_variant	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.537A>T	1.37:g.177226388A>T			O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.I179	ENST00000361539.4	37	c.537	CCDS1320.1	1																																																																																			FAM5B	-	smart_MACPF		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	A	NM_021165		177226388	+1	no_errors	ENST00000361539	ensembl	human	known	70_37	silent	SNP	0.000	T
FAM63B	54629	genome.wustl.edu	37	15	59080149	59080149	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:59080149G>A	ENST00000559228.1	+	2	967	c.885G>A	c.(883-885)ctG>ctA	p.L295L	FAM63B_ENST00000450403.2_Silent_p.L295L			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	295										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGAGCAGCTGATGGAATATT	0.313																																																	0													104.0	103.0	103.0					15																	59080149		1784	4059	5843	SO:0001819	synonymous_variant	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.885G>A	15.37:g.59080149G>A			B2RTT8|Q9ULQ6	Silent	SNP	pfam_DUF544	p.L295	ENST00000559228.1	37	c.885	CCDS42046.1	15																																																																																			FAM63B	-	pfam_DUF544		0.313	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	G	NM_019092		59080149	+1	no_errors	ENST00000559228	ensembl	human	known	70_37	silent	SNP	1.000	A
FAT2	2196	genome.wustl.edu	37	5	150887058	150887058	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:150887058G>C	ENST00000261800.5	-	22	12186	c.12174C>G	c.(12172-12174)ttC>ttG	p.F4058L	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4058					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATGATAATGAACGCCACGG	0.577																																																	0													61.0	63.0	62.0					5																	150887058		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12174C>G	5.37:g.150887058G>C	ENSP00000261800:p.Phe4058Leu		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F4058L	ENST00000261800.5	37	c.12174	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.959|0.959	-0.704037|-0.704037	0.03255|0.03255	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.70869|.	-0.52|.	5.46|5.46	-1.24|-1.24	0.09435|0.09435	Concanavalin A-like lectin/glucanase, subgroup (1);|.	1.630070|.	0.03423|.	N|.	0.206586|.	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.28459|0.28459	-1.0043|-1.0043	10|5	0.02654|.	T|.	1|.	.|.	8.342|8.342	0.32249|0.32249	0.0644:0.402:0.4292:0.1044|0.0644:0.402:0.4292:0.1044	.|.	4058;1163|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	L|D	4058|831	ENSP00000261800:F4058L|.	ENSP00000261800:F4058L|.	F|H	-|-	3|1	2|0	FAT2|FAT2	150867251|150867251	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.015000|0.015000	0.13355|0.13355	-1.011000|-1.011000	0.03391|0.03391	-0.808000|-0.808000	0.03180|0.03180	TTC|CAT	FAT2	-	NULL		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150887058	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.000	C
FBN1	2200	genome.wustl.edu	37	15	48936854	48936854	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:48936854C>T	ENST00000316623.5	-	2	568	c.113G>A	c.(112-114)aGa>aAa	p.R38K	RP11-227D13.1_ENST00000558061.1_lincRNA|FBN1_ENST00000560355.1_Missense_Mutation_p.R38K	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	38					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCGACTGGCTCTGGTTTCCTT	0.577																																																	0													191.0	183.0	186.0					15																	48936854		2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.113G>A	15.37:g.48936854C>T	ENSP00000325527:p.Arg38Lys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R38K	ENST00000316623.5	37	c.113	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361792	0.41801	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	T;T	0.81163	-1.46;0.67	4.94	4.02	0.46733	.	0.181068	0.42420	D	0.000715	T	0.61413	0.2345	N	0.16743	0.435	0.26721	N	0.970785	B	0.18741	0.03	B	0.18263	0.021	T	0.43750	-0.9372	10	0.06099	T	0.92	.	9.9738	0.41770	0.0:0.9062:0.0:0.0938	.	38	P35555	FBN1_HUMAN	K	38	ENSP00000325527:R38K;ENSP00000440294:R38K	ENSP00000325527:R38K	R	-	2	0	FBN1	46724146	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	3.861000	0.56002	1.299000	0.44798	0.585000	0.79938	AGA	FBN1	-	pirsf_FBN		0.577	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C			48936854	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	0.967	T
FZD1	8321	genome.wustl.edu	37	7	90894521	90894521	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:90894521C>G	ENST00000287934.2	+	1	739	c.326C>G	c.(325-327)tCc>tGc	p.S109C		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	109					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGGGGCATCTCCGTCCCGGAC	0.701																																																	0													86.0	73.0	77.0					7																	90894521		2203	4300	6503	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.326C>G	7.37:g.90894521C>G	ENSP00000287934:p.Ser109Cys		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S109C	ENST00000287934.2	37	c.326	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889157	0.72524	.	.	ENSG00000157240	ENST00000287934	T	0.79033	-1.23	3.83	3.83	0.44106	Frizzled domain (1);	0.000000	0.64402	D	0.000007	T	0.80053	0.4553	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	P	0.61800	0.894	D	0.83622	0.0140	10	0.87932	D	0	.	16.2752	0.82640	0.0:1.0:0.0:0.0	.	109	Q9UP38	FZD1_HUMAN	C	109	ENSP00000287934:S109C	ENSP00000287934:S109C	S	+	2	0	FZD1	90732457	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	2.146000	0.66826	0.555000	0.69702	TCC	FZD1	-	NULL		0.701	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	C	NM_003505		90894521	+1	no_errors	ENST00000287934	ensembl	human	known	70_37	missense	SNP	1.000	G
GALNTL6	442117	genome.wustl.edu	37	4	173942728	173942728	+	Silent	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:173942728C>G	ENST00000506823.1	+	12	2247	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	GALNTL6_ENST00000508122.1_Silent_p.L513L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCGTTACACTCTATGACTGTC	0.468																																																	0													158.0	152.0	154.0					4																	173942728		2203	4300	6503	SO:0001819	synonymous_variant	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1590C>G	4.37:g.173942728C>G			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L530	ENST00000506823.1	37	c.1590	CCDS34104.1	4																																																																																			GALNTL6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.468	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	C	NM_001034845		173942728	+1	no_errors	ENST00000506823	ensembl	human	known	70_37	silent	SNP	0.903	G
GANAB	23193	genome.wustl.edu	37	11	62397703	62397703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:62397703C>T	ENST00000356638.3	-	13	1575	c.1559G>A	c.(1558-1560)tGg>tAg	p.W520*	GANAB_ENST00000346178.4_Nonsense_Mutation_p.W542*|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Nonsense_Mutation_p.W423*|GANAB_ENST00000534779.1_Nonsense_Mutation_p.W428*	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	520					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GTTAGCCCACCAGGCCCTCAT	0.542																																					Melanoma(23;1005 1074 15747 18937)												0													77.0	69.0	72.0					11																	62397703		2202	4299	6501	SO:0001587	stop_gained	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1559G>A	11.37:g.62397703C>T	ENSP00000349053:p.Trp520*		A6NC20|Q8WTS9|Q9P0X0	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.W542*	ENST00000356638.3	37	c.1625	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.905099	0.97087	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	.	.	.	5.2	5.2	0.72013	.	0.062004	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7214	16.2695	0.82607	0.0:1.0:0.0:0.0	.	.	.	.	X	542;520;428;423	.	ENSP00000340466:W542X	W	-	2	0	GANAB	62154279	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.155000	0.64900	2.706000	0.92434	0.561000	0.74099	TGG	GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	C	NM_198334		62397703	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GK	2710	genome.wustl.edu	37	X	30712558	30712558	+	Silent	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:30712558G>C	ENST00000378943.3	+	6	635	c.456G>C	c.(454-456)gtG>gtC	p.V152V	GK_ENST00000378946.3_Silent_p.V152V|GK_ENST00000378945.3_Silent_p.V152V|GK_ENST00000427190.1_5'UTR	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	152					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						TCAGTGCAGTGAAACTTCGTT	0.388																																																	0													74.0	68.0	70.0					X																	30712558		2202	4298	6500	SO:0001819	synonymous_variant	2710			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.456G>C	X.37:g.30712558G>C			A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonstop_Mutation	SNP	pfam_Carb_kinase_FGGY_N	p.*91S	ENST00000378943.3	37	c.272	CCDS48090.1	X																																																																																			GK	-	NULL		0.388	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056170.1	G	NM_000167		30712558	+1	no_errors	ENST00000471362	ensembl	human	known	70_37	nonstop	SNP	1.000	C
GLYAT	10249	genome.wustl.edu	37	11	58477548	58477548	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:58477548C>T	ENST00000344743.3	-	6	723	c.582G>A	c.(580-582)caG>caA	p.Q194Q	GLYAT_ENST00000529732.1_Silent_p.Q194Q	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	194					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CAATGAATCTCTGGCTCCTCT	0.498																																																	0													75.0	76.0	76.0					11																	58477548		2201	4295	6496	SO:0001819	synonymous_variant	10249			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.582G>A	11.37:g.58477548C>T			O14833|Q96QK7	Silent	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase	p.Q194	ENST00000344743.3	37	c.582	CCDS7970.1	11																																																																																			GLYAT	-	pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase		0.498	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYAT	HGNC	protein_coding	OTTHUMT00000394593.1	C			58477548	-1	no_errors	ENST00000344743	ensembl	human	known	70_37	silent	SNP	0.805	T
GPR112	139378	genome.wustl.edu	37	X	135429208	135429208	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:135429208A>G	ENST00000394143.1	+	6	3634	c.3343A>G	c.(3343-3345)Aga>Gga	p.R1115G	GPR112_ENST00000412101.1_Missense_Mutation_p.R910G|GPR112_ENST00000287534.4_Missense_Mutation_p.R1052G|GPR112_ENST00000370652.1_Missense_Mutation_p.R1115G|GPR112_ENST00000394141.1_Missense_Mutation_p.R910G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1115					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATTCACTGAGACTCTCCAC	0.478																																																	0													153.0	122.0	132.0					X																	135429208		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3343A>G	X.37:g.135429208A>G	ENSP00000377699:p.Arg1115Gly		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R1115G	ENST00000394143.1	37	c.3343	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275847	0.23307	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.44881	0.95;0.95;0.91;1.01;0.91	2.7	2.7	0.31948	.	.	.	.	.	T	0.27967	0.0689	L	0.29908	0.895	0.09310	N	1	B;B;B	0.32829	0.386;0.288;0.19	B;B;B	0.28139	0.086;0.081;0.037	T	0.18903	-1.0322	9	0.72032	D	0.01	.	6.9629	0.24608	1.0:0.0:0.0:0.0	.	1052;910;1115	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	G	1115;1115;910;1052;910	ENSP00000377699:R1115G;ENSP00000359686:R1115G;ENSP00000416526:R910G;ENSP00000287534:R1052G;ENSP00000377697:R910G	ENSP00000287534:R1052G	R	+	1	2	GPR112	135256874	0.979000	0.34478	0.009000	0.14445	0.008000	0.06430	2.433000	0.44793	1.059000	0.40554	0.356000	0.21956	AGA	GPR112	-	NULL		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135429208	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.040	G
GPR15	2838	genome.wustl.edu	37	3	98251163	98251163	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:98251163C>G	ENST00000284311.3	+	1	421	c.286C>G	c.(286-288)Cta>Gta	p.L96V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	96					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		AGAAGCATCTCTAGGACTGTG	0.502																																																	0													77.0	78.0	77.0					3																	98251163		2203	4300	6503	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.286C>G	3.37:g.98251163C>G	ENSP00000284311:p.Leu96Val		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt	p.L96V	ENST00000284311.3	37	c.286	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	C	1.810	-0.474787	0.04414	.	.	ENSG00000154165	ENST00000284311	T	0.38722	1.12	4.8	-2.29	0.06805	GPCR, rhodopsin-like superfamily (1);	1.808950	0.03222	N	0.177676	T	0.35307	0.0927	L	0.45698	1.435	0.09310	N	1	B	0.25390	0.125	B	0.24394	0.053	T	0.20538	-1.0272	10	0.15066	T	0.55	-0.1097	10.307	0.43687	0.0:0.6117:0.0:0.3883	.	96	P49685	GPR15_HUMAN	V	96	ENSP00000284311:L96V	ENSP00000284311:L96V	L	+	1	2	GPR15	99733853	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	-0.163000	0.09997	-0.469000	0.06911	-1.279000	0.01387	CTA	GPR15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt		0.502	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	C			98251163	+1	no_errors	ENST00000284311	ensembl	human	known	70_37	missense	SNP	0.002	G
GPR61	83873	genome.wustl.edu	37	1	110086927	110086927	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:110086927A>G	ENST00000527748.1	+	2	1966	c.1283A>G	c.(1282-1284)cAg>cGg	p.Q428R	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	428						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCCTGGAGCAGCAACTCACC	0.602																																																	0													32.0	29.0	30.0					1																	110086927		2198	4281	6479	SO:0001583	missense	83873			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1283A>G	1.37:g.110086927A>G	ENSP00000432456:p.Gln428Arg		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q428R	ENST00000527748.1	37	c.1283	CCDS801.1	1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329889	0.24167	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.69435	-0.4	5.89	4.78	0.61160	.	0.091610	0.44688	D	0.000428	T	0.28732	0.0712	N	0.14661	0.345	0.30021	N	0.814324	B	0.12013	0.005	B	0.08055	0.003	T	0.07252	-1.0782	10	0.36615	T	0.2	-8.6979	9.5317	0.39198	0.8693:0.0:0.1307:0.0	.	428	Q9BZJ8	GPR61_HUMAN	R	428;556	ENSP00000432456:Q428R	ENSP00000286603:Q556R	Q	+	2	0	GPR61	109888450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.490000	0.35573	2.254000	0.74563	0.533000	0.62120	CAG	GPR61	-	NULL		0.602	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GPR61	HGNC	protein_coding	OTTHUMT00000385575.1	A			110086927	+1	no_errors	ENST00000404129	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIK5	2901	genome.wustl.edu	37	19	42507794	42507794	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:42507794G>T	ENST00000262895.3	-	17	2304	c.2305C>A	c.(2305-2307)Ctt>Att	p.L769I	GRIK5_ENST00000593562.1_Missense_Mutation_p.L769I|GRIK5_ENST00000301218.4_Missense_Mutation_p.L769I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	769					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCTCCTGAAGCTGCAGGATG	0.667																																																	0													56.0	49.0	51.0					19																	42507794		2203	4300	6503	SO:0001583	missense	2901				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2305C>A	19.37:g.42507794G>T	ENSP00000262895:p.Leu769Ile		Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L769I	ENST00000262895.3	37	c.2305	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.493350|4.493350	0.84962|0.84962	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.13538	.|2.58;2.58	4.44|4.44	4.44|4.44	0.53790|0.53790	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.45696|0.45696	0.1355|0.1355	M|M	0.91354|0.91354	3.2|3.2	0.46044|0.46044	D|D	0.998833|0.998833	.|D	.|0.58620	.|0.983	.|D	.|0.71870	.|0.975	T|T	0.59364|0.59364	-0.7468|-0.7468	5|10	.|0.66056	.|D	.|0.02	.|.	15.8312|15.8312	0.78752|0.78752	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|769	.|Q16478	.|GRIK5_HUMAN	D|I	145|769	.|ENSP00000262895:L769I;ENSP00000301218:L769I	.|ENSP00000262895:L769I	A|L	-|-	2|1	0|0	GRIK5|GRIK5	47199634|47199634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.363000|6.363000	0.73082|0.73082	2.013000|2.013000	0.59113|0.59113	0.555000|0.555000	0.69702|0.69702	GCT|CTT	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.667	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	G			42507794	-1	no_errors	ENST00000301218	ensembl	human	known	70_37	missense	SNP	1.000	T
HEATR1	55127	genome.wustl.edu	37	1	236716983	236716983	+	Silent	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:236716983C>G	ENST00000366582.3	-	43	6249	c.6135G>C	c.(6133-6135)ctG>ctC	p.L2045L	HEATR1_ENST00000366581.2_Silent_p.L1964L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2045					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCATGGTATCAGGTGCTTTG	0.478																																																	0													147.0	132.0	137.0					1																	236716983		2203	4300	6503	SO:0001819	synonymous_variant	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6135G>C	1.37:g.236716983C>G			Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L2045	ENST00000366582.3	37	c.6135	CCDS31066.1	1																																																																																			HEATR1	-	superfamily_ARM-type_fold		0.478	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236716983	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	silent	SNP	0.998	G
HECW1	23072	genome.wustl.edu	37	7	43484575	43484575	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:43484575G>A	ENST00000395891.2	+	11	2409	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	HECW1_ENST00000453890.1_Missense_Mutation_p.E602K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	602					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGGCTCAGCGAGGTGGACAC	0.711																																																	0													13.0	17.0	16.0					7																	43484575		2125	4228	6353	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1804G>A	7.37:g.43484575G>A	ENSP00000379228:p.Glu602Lys		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E602K	ENST00000395891.2	37	c.1804	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755916	0.69648	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35605	1.37;1.3	4.88	4.88	0.63580	.	2.156610	0.01415	N	0.014151	T	0.39358	0.1075	L	0.53249	1.67	0.47994	D	0.999567	P;P	0.41710	0.76;0.76	B;B	0.30943	0.122;0.041	T	0.50608	-0.8808	10	0.29301	T	0.29	.	18.0941	0.89483	0.0:0.0:1.0:0.0	.	602;602	B4DH42;Q76N89	.;HECW1_HUMAN	K	602	ENSP00000379228:E602K;ENSP00000407774:E602K	ENSP00000265522:E602K	E	+	1	0	HECW1	43451100	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	4.797000	0.62503	2.254000	0.74563	0.558000	0.71614	GAG	HECW1	-	NULL		0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43484575	+1	no_errors	ENST00000395891	ensembl	human	known	70_37	missense	SNP	1.000	A
HEXB	3074	genome.wustl.edu	37	5	73981268	73981268	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:73981268C>T	ENST00000261416.7	+	1	300	c.183C>T	c.(181-183)ctC>ctT	p.L61L	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	61					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CCCTGCCGCTCTTGGTGAAGA	0.706																																					Melanoma(66;841 1270 13391 18706 27225)												0													11.0	14.0	13.0					5																	73981268		2193	4296	6489	SO:0001819	synonymous_variant	3074			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.183C>T	5.37:g.73981268C>T				Silent	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.L61	ENST00000261416.7	37	c.183	CCDS4022.1	5																																																																																			HEXB	-	NULL		0.706	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	C	NM_000521		73981268	+1	no_errors	ENST00000261416	ensembl	human	known	70_37	silent	SNP	0.000	T
HOXD4	3233	genome.wustl.edu	37	2	177016484	177016484	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:177016484G>A	ENST00000306324.3	+	1	535	c.123G>A	c.(121-123)gcG>gcA	p.A41A	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	41					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGGCGGCGCGCAGGGCGCAG	0.697																																																	0													19.0	22.0	21.0					2																	177016484		2181	4223	6404	SO:0001819	synonymous_variant	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.123G>A	2.37:g.177016484G>A			B2R9R3|Q96AU0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.A41	ENST00000306324.3	37	c.123	CCDS2269.1	2																																																																																			HOXD4	-	NULL		0.697	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	G			177016484	+1	no_errors	ENST00000306324	ensembl	human	known	70_37	silent	SNP	0.073	A
HSPG2	3339	genome.wustl.edu	37	1	22202370	22202370	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:22202370C>A	ENST00000374695.3	-	24	3248	c.3169G>T	c.(3169-3171)Gtg>Ttg	p.V1057L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1057	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGAAAGGCACAATGAAGGTG	0.637																																																	0													46.0	49.0	48.0					1																	22202370		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3169G>T	1.37:g.22202370C>A	ENSP00000363827:p.Val1057Leu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.V1057L	ENST00000374695.3	37	c.3169	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608964	0.66558	.	.	ENSG00000142798	ENST00000374695	T	0.37752	1.18	5.51	4.58	0.56647	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.36066	N	0.002813	T	0.35068	0.0919	L	0.49778	1.585	0.53688	D	0.999977	B	0.18863	0.031	B	0.23716	0.048	T	0.18335	-1.0340	10	0.66056	D	0.02	.	12.4018	0.55418	0.0:0.917:0.0:0.083	.	1057	P98160	PGBM_HUMAN	L	1057	ENSP00000363827:V1057L	ENSP00000363827:V1057L	V	-	1	0	HSPG2	22074957	1.000000	0.71417	0.951000	0.38953	0.954000	0.61252	5.522000	0.67092	1.299000	0.44798	0.561000	0.74099	GTG	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22202370	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.998	A
ICAM2	3384	genome.wustl.edu	37	17	62081145	62081145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:62081145C>A	ENST00000412356.1	-	5	862	c.508G>T	c.(508-510)Gag>Tag	p.E170*	ICAM2_ENST00000418105.1_Nonsense_Mutation_p.E170*|ICAM2_ENST00000578892.1_Nonsense_Mutation_p.E146*|ICAM2_ENST00000578379.1_Nonsense_Mutation_p.E69*|ICAM2_ENST00000579687.1_Nonsense_Mutation_p.E170*|ICAM2_ENST00000449662.2_Nonsense_Mutation_p.E170*|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Nonsense_Mutation_p.E170*	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	170	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGTGGCCTCCTGCGGAGCA	0.617																																																	0													75.0	63.0	67.0					17																	62081145		2203	4300	6503	SO:0001587	stop_gained	3384				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.508G>T	17.37:g.62081145C>A	ENSP00000415283:p.Glu170*		Q14600	Nonsense_Mutation	SNP	pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM	p.E170*	ENST00000412356.1	37	c.508	CCDS11657.1	17	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905006	0.72868	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	.	.	.	5.54	3.56	0.40772	.	0.719983	0.13884	N	0.356122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.0335	7.2981	0.26405	0.0:0.8084:0.0:0.1916	.	.	.	.	X	170	.	ENSP00000415283:E170X	E	-	1	0	ICAM2	59434877	0.005000	0.15991	0.008000	0.14137	0.013000	0.08279	0.748000	0.26305	1.333000	0.45449	0.561000	0.74099	GAG	ICAM2	-	NULL		0.617	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM2	HGNC	protein_coding	OTTHUMT00000443687.1	C			62081145	-1	no_errors	ENST00000412356	ensembl	human	known	70_37	nonsense	SNP	0.013	A
IL36B	27177	genome.wustl.edu	37	2	113788646	113788646	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:113788646G>C	ENST00000259213.4	-	3	207	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	IL36B_ENST00000327407.2_Missense_Mutation_p.L34V	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	34					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						CTGCGGCTAAGAGGAGCTGCT	0.498																																																	0													110.0	98.0	102.0					2																	113788646		2203	4300	6503	SO:0001583	missense	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.100C>G	2.37:g.113788646G>C	ENSP00000259213:p.Leu34Val		Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	superfamily_Cytokine_IL1-like	p.L34V	ENST00000259213.4	37	c.100	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	g	3.741	-0.053524	0.07362	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.21361	2.01;2.01	3.04	-5.49	0.02584	.	3.090030	0.00956	N	0.003023	T	0.15305	0.0369	L	0.46157	1.445	0.09310	N	1	B;P	0.36171	0.356;0.541	B;B	0.31946	0.138;0.119	T	0.15435	-1.0437	10	0.28530	T	0.3	.	4.9899	0.14209	0.2827:0.3209:0.3964:0.0	.	34;34	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	V	34	ENSP00000259213:L34V;ENSP00000328420:L34V	ENSP00000259213:L34V	L	-	1	0	IL36B	113505117	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	-0.623000	0.05546	-1.154000	0.02825	-0.360000	0.07572	CTT	IL36B	-	superfamily_Cytokine_IL1-like		0.498	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	HGNC	protein_coding	OTTHUMT00000254110.1	G	NM_014438		113788646	-1	no_errors	ENST00000259213	ensembl	human	known	70_37	missense	SNP	0.000	C
INVS	27130	genome.wustl.edu	37	9	103035180	103035180	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:103035180C>T	ENST00000262457.2	+	12	1791	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	INVS_ENST00000541287.1_Missense_Mutation_p.R440C|INVS_ENST00000262456.2_Missense_Mutation_p.R536C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	536					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GCTTGGTGAGCGCCATGAAGT	0.433																																																	0													194.0	185.0	188.0					9																	103035180		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1606C>T	9.37:g.103035180C>T	ENSP00000262457:p.Arg536Cys		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.R536C	ENST00000262457.2	37	c.1606	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.306906	0.95629	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.66099	-0.19;-0.19;2.35	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.043343	0.85682	D	0.000000	T	0.69628	0.3132	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	P;P;P	0.59825	0.854;0.613;0.864	T	0.72204	-0.4361	10	0.87932	D	0	.	19.7704	0.96361	0.0:1.0:0.0:0.0	.	440;536;536	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	C	536;440;536	ENSP00000262457:R536C;ENSP00000444454:R440C;ENSP00000262456:R536C	ENSP00000262456:R536C	R	+	1	0	INVS	102075001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.676000	0.91093	0.561000	0.74099	CGC	INVS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.433	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	C	NM_014425		103035180	+1	no_errors	ENST00000262457	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA4	3676	genome.wustl.edu	37	2	182360122	182360122	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:182360122C>A	ENST00000397033.2	+	13	1794	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	455					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCTTTTCGGTCTGATTCTGCT	0.333																																																	0													275.0	241.0	251.0					2																	182360122		1871	4118	5989	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1364C>A	2.37:g.182360122C>A	ENSP00000380227:p.Ser455Tyr		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S455Y	ENST00000397033.2	37	c.1364	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166070	0.78339	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.56444	0.46;0.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84121	0.0406	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	455	P13612	ITA4_HUMAN	Y	455	ENSP00000380227:S455Y;ENSP00000233573:S455Y	ENSP00000233573:S455Y	S	+	2	0	ITGA4	182068367	0.992000	0.36948	0.867000	0.34043	0.886000	0.51366	3.039000	0.49791	2.814000	0.96858	0.655000	0.94253	TCT	ITGA4	-	smart_Int_alpha_beta-p		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	C			182360122	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	A
JAK2	3717	genome.wustl.edu	37	9	5080270	5080270	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:5080270G>A	ENST00000381652.3	+	17	2667	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	JAK2_ENST00000544510.1_Missense_Mutation_p.E576K|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.E725K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	725	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGAATGCATTGAAAATCCTAA	0.363		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													124.0	142.0	136.0					9																	5080270		2203	4300	6503	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2173G>A	9.37:g.5080270G>A	ENSP00000371067:p.Glu725Lys		O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E725K	ENST00000381652.3	37	c.2173	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081531	0.36758	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.82081	-1.57;-1.57;-1.57	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.313754	0.38381	N	0.001712	T	0.70996	0.3288	N	0.10629	0.01	0.44789	D	0.997793	B	0.06786	0.001	B	0.11329	0.006	T	0.63752	-0.6566	10	0.23891	T	0.37	-24.2636	20.1991	0.98252	0.0:0.0:1.0:0.0	.	725	O60674	JAK2_HUMAN	K	725;725;576	ENSP00000440387:E725K;ENSP00000371067:E725K;ENSP00000443103:E576K	ENSP00000371067:E725K	E	+	1	0	JAK2	5070270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.961000	0.63681	2.775000	0.95449	0.650000	0.86243	GAA	JAK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	G			5080270	+1	no_errors	ENST00000381652	ensembl	human	known	70_37	missense	SNP	1.000	A
KBTBD3	143879	genome.wustl.edu	37	11	105923634	105923634	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:105923634G>A	ENST00000526793.1	-	3	1941	c.1782C>T	c.(1780-1782)tgC>tgT	p.C594C	KBTBD3_ENST00000531837.1_Silent_p.C594C|KBTBD3_ENST00000534815.1_Silent_p.C515C	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	590										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GAATCACCTGGCAGTAAAATT	0.388																																																	0													105.0	108.0	107.0					11																	105923634		2201	4298	6499	SO:0001819	synonymous_variant	143879			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1782C>T	11.37:g.105923634G>A			Q6N066|Q86X38|Q96NK5	Silent	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C594	ENST00000526793.1	37	c.1782	CCDS8334.1	11																																																																																			KBTBD3	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.388	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388705.2	G	NM_152433		105923634	-1	no_errors	ENST00000526793	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNH6	81033	genome.wustl.edu	37	17	61611355	61611355	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:61611355C>T	ENST00000583023.1	+	5	795	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	KCNH6_ENST00000581784.1_Missense_Mutation_p.L262F|KCNH6_ENST00000580652.1_Missense_Mutation_p.L262F|KCNH6_ENST00000456941.2_Missense_Mutation_p.L262F|KCNH6_ENST00000314672.5_Missense_Mutation_p.L262F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	262					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTGGGACTGGCTCATCCTGCT	0.647																																																	0													165.0	135.0	145.0					17																	61611355		2203	4300	6503	SO:0001583	missense	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.784C>T	17.37:g.61611355C>T	ENSP00000463533:p.Leu262Phe		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.L262F	ENST00000583023.1	37	c.784	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068496	0.20067	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.97404	-4.37;-4.37	4.19	4.19	0.49359	.	0.142256	0.47455	D	0.000226	D	0.96172	0.8752	L	0.52759	1.655	0.43613	D	0.995989	P;B;B;B;B	0.34909	0.475;0.119;0.243;0.407;0.088	B;B;B;B;B	0.42653	0.186;0.109;0.394;0.175;0.053	D	0.96261	0.9191	10	0.48119	T	0.1	.	16.6996	0.85345	0.0:1.0:0.0:0.0	.	139;262;262;262;262	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	F	262	ENSP00000318212:L262F;ENSP00000396900:L262F	ENSP00000318212:L262F	L	+	1	0	KCNH6	58965087	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	2.692000	0.47018	2.153000	0.67306	0.305000	0.20034	CTC	KCNH6	-	NULL		0.647	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	C	NM_030779		61611355	+1	no_errors	ENST00000583023	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM2A	22992	genome.wustl.edu	37	11	66975079	66975079	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:66975079G>A	ENST00000529006.2	+	6	852	c.406G>A	c.(406-408)Gag>Aag	p.E136K	KDM2A_ENST00000398645.2_Missense_Mutation_p.E136K|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	136					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCCAGAGGAGGAGCGAGAGAA	0.502																																																	0													64.0	69.0	68.0					11																	66975079		2018	4179	6197	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.406G>A	11.37:g.66975079G>A	ENSP00000432786:p.Glu136Lys		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E136K	ENST00000529006.2	37	c.406	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282667	0.80692	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.71341	-0.56;-0.56	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	N	0.17723	0.515	0.80722	D	1	P	0.41929	0.765	B	0.35312	0.2	T	0.54490	-0.8286	10	0.13853	T	0.58	-9.376	18.0888	0.89468	0.0:0.0:1.0:0.0	.	136	Q9Y2K7	KDM2A_HUMAN	K	136	ENSP00000381640:E136K;ENSP00000432786:E136K	ENSP00000381640:E136K	E	+	1	0	KDM2A	66731655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.538000	0.67193	2.503000	0.84419	0.591000	0.81541	GAG	KDM2A	-	NULL		0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		66975079	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0319	9856	genome.wustl.edu	37	6	24569028	24569028	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:24569028G>A	ENST00000378214.3	-	13	2645	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	KIAA0319_ENST00000543707.1_Silent_p.L707L|KIAA0319_ENST00000535378.1_Silent_p.L698L|KIAA0319_ENST00000430948.2_Silent_p.L662L|KIAA0319_ENST00000537886.1_Silent_p.L707L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	707	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCCACAGTGAGGGTGGACG	0.572																																																	0													123.0	101.0	108.0					6																	24569028		2203	4300	6503	SO:0001819	synonymous_variant	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2121C>T	6.37:g.24569028G>A			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.L707	ENST00000378214.3	37	c.2121	CCDS34348.1	6																																																																																			KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom		0.572	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	G	NM_014809		24569028	-1	no_errors	ENST00000378214	ensembl	human	known	70_37	silent	SNP	0.821	A
KIAA0556	23247	genome.wustl.edu	37	16	27761023	27761023	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:27761023C>G	ENST00000261588.4	+	16	2761	c.2742C>G	c.(2740-2742)atC>atG	p.I914M		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	914						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGACGCATCTCCAACACGG	0.652																																																	0													55.0	52.0	53.0					16																	27761023		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2742C>G	16.37:g.27761023C>G	ENSP00000261588:p.Ile914Met		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.I914M	ENST00000261588.4	37	c.2742	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478769	0.63849	.	.	ENSG00000047578	ENST00000261588	T	0.17054	2.3	4.7	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.68952	2.095	0.35953	D	0.83402	D	0.89917	1.0	D	0.79784	0.993	T	0.33214	-0.9877	10	0.72032	D	0.01	-17.9926	5.8433	0.18645	0.1636:0.6723:0.0:0.1641	.	914	O60303	K0556_HUMAN	M	914	ENSP00000261588:I914M	ENSP00000261588:I914M	I	+	3	3	KIAA0556	27668524	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.200000	0.42724	2.320000	0.78422	0.655000	0.94253	ATC	KIAA0556	-	NULL		0.652	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27761023	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF3B	9371	genome.wustl.edu	37	20	30898811	30898811	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr20:30898811G>T	ENST00000375712.3	+	2	1398	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	411					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ggaTGATAAGGATGATTACTG	0.557																																																	0													75.0	67.0	70.0					20																	30898811		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1231G>T	20.37:g.30898811G>T	ENSP00000364864:p.Asp411Tyr		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D411Y	ENST00000375712.3	37	c.1231	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047659	0.55110	.	.	ENSG00000101350	ENST00000375712	T	0.74947	-0.89	4.93	4.93	0.64822	.	0.200744	0.43260	D	0.000583	T	0.70482	0.3229	L	0.34521	1.04	0.80722	D	1	P	0.40875	0.731	B	0.42738	0.396	T	0.75202	-0.3401	10	0.72032	D	0.01	.	18.3226	0.90243	0.0:0.0:1.0:0.0	.	411	O15066	KIF3B_HUMAN	Y	411	ENSP00000364864:D411Y	ENSP00000364864:D411Y	D	+	1	0	KIF3B	30362472	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.463000	0.73530	2.574000	0.86865	0.448000	0.29417	GAT	KIF3B	-	NULL		0.557	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	G	NM_004798		30898811	+1	no_errors	ENST00000375712	ensembl	human	known	70_37	missense	SNP	1.000	T
KPRP	448834	genome.wustl.edu	37	1	152732421	152732421	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:152732421C>T	ENST00000606109.1	+	1	385	c.357C>T	c.(355-357)taC>taT	p.Y119Y	KPRP_ENST00000368773.1_Silent_p.Y119Y			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	119	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.Y119Y(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGTGTCCTACGTGCAGTGCG	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)											266.0	252.0	257.0					1																	152732421		2203	4300	6503	SO:0001819	synonymous_variant	448834			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.357C>T	1.37:g.152732421C>T				Silent	SNP	NULL	p.Y119	ENST00000606109.1	37	c.357	CCDS30862.1	1																																																																																			KPRP	-	NULL		0.488	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	C	NM_001025231		152732421	+1	no_errors	ENST00000368773	ensembl	human	known	70_37	silent	SNP	0.064	T
KRT28	162605	genome.wustl.edu	37	17	38950265	38950265	+	Missense_Mutation	SNP	C	C	T	rs201969522		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:38950265C>T	ENST00000306658.7	-	6	1077	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TAGTTGCTCTCGGTCTCTGTC	0.557																																					Melanoma(19;789 869 15380 26882 39836)												0								C	LYS/GLU	0,4406		0,0,2203	117.0	120.0	119.0		1012	5.7	1.0	17		119	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT28	NM_181535.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	338/465	38950265	2,13004	2203	4300	6503	SO:0001583	missense	162605			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1012G>A	17.37:g.38950265C>T	ENSP00000305263:p.Glu338Lys			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E338K	ENST00000306658.7	37	c.1012	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249305	0.80024	0.0	2.33E-4	ENSG00000173908	ENST00000306658	D	0.91577	-2.87	5.71	5.71	0.89125	Filament (1);	0.000000	0.64402	D	0.000009	D	0.93762	0.8006	M	0.80847	2.515	0.48452	D	0.999655	D	0.54047	0.964	P	0.51385	0.668	D	0.93660	0.6981	10	0.54805	T	0.06	.	19.2052	0.93728	0.0:1.0:0.0:0.0	.	338	Q7Z3Y7	K1C28_HUMAN	K	338	ENSP00000305263:E338K	ENSP00000305263:E338K	E	-	1	0	KRT28	36203791	0.880000	0.30214	0.989000	0.46669	0.814000	0.46013	2.066000	0.41452	2.850000	0.98022	0.655000	0.94253	GAG	KRT28	-	pfam_F		0.557	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	C	NM_181535		38950265	-1	no_errors	ENST00000306658	ensembl	human	known	70_37	missense	SNP	0.992	T
KRT34	3885	genome.wustl.edu	37	17	39537389	39537389	+	Silent	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:39537389C>G	ENST00000394001.1	-	3	663	c.633G>C	c.(631-633)ctG>ctC	p.L211L		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	211	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGCAGAGGGTCAGCTCATCCA	0.547																																																	0													160.0	134.0	143.0					17																	39537389		2203	4300	6503	SO:0001819	synonymous_variant	3885			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.633G>C	17.37:g.39537389C>G			Q8IUT8|Q8N4W2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L211	ENST00000394001.1	37	c.633	CCDS11390.1	17																																																																																			KRT34	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.547	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	C	NM_021013		39537389	-1	no_errors	ENST00000394001	ensembl	human	known	70_37	silent	SNP	1.000	G
LCAT	3931	genome.wustl.edu	37	16	67974269	67974269	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:67974269G>A	ENST00000264005.5	-	6	890	c.861C>T	c.(859-861)caC>caT	p.H287H		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	287					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AAATGAACACGTGGTCCTCAG	0.557																																																	0													144.0	122.0	129.0					16																	67974269		2198	4300	6498	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.861C>T	16.37:g.67974269G>A			Q53XQ3	Silent	SNP	pfam_LACT/PDAT_acylTrfase	p.H287	ENST00000264005.5	37	c.861	CCDS10854.1	16																																																																																			LCAT	-	pfam_LACT/PDAT_acylTrfase		0.557	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	G			67974269	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	silent	SNP	0.271	A
LCLAT1	253558	genome.wustl.edu	37	2	30863168	30863168	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:30863168G>A	ENST00000309052.4	+	7	1137	c.928G>A	c.(928-930)Gag>Aag	p.E310K	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E272K|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E272K	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	310					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ACGGTGGGAAGAGAAAGAAGA	0.498																																																	0													107.0	100.0	102.0					2																	30863168		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.928G>A	2.37:g.30863168G>A	ENSP00000310551:p.Glu310Lys		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E310K	ENST00000309052.4	37	c.928	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398106	0.62177	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.64991	-0.13;-0.13;-0.13	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	M	0.70842	2.15	0.80722	D	1	D	0.71674	0.998	P	0.59703	0.862	T	0.73833	-0.3858	10	0.36615	T	0.2	-27.9848	19.9944	0.97379	0.0:0.0:1.0:0.0	.	310	Q6UWP7	LCLT1_HUMAN	K	272;272;310;272	ENSP00000368823:E272K;ENSP00000310551:E310K;ENSP00000442857:E272K	ENSP00000310551:E310K	E	+	1	0	LCLAT1	30716672	1.000000	0.71417	0.981000	0.43875	0.126000	0.20510	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	GAG	LCLAT1	-	NULL		0.498	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	G	NM_182551		30863168	+1	no_errors	ENST00000309052	ensembl	human	known	70_37	missense	SNP	1.000	A
LCLAT1	253558	genome.wustl.edu	37	2	30863174	30863174	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:30863174G>A	ENST00000309052.4	+	7	1143	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E274K|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E274K	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	312					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGAAGAGAAAGAAGAGAGGCT	0.498																																																	0													111.0	103.0	106.0					2																	30863174		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.934G>A	2.37:g.30863174G>A	ENSP00000310551:p.Glu312Lys		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E312K	ENST00000309052.4	37	c.934	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105549	0.77096	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.64991	-0.13;-0.13;-0.13	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85241	0.1038	10	0.87932	D	0	-27.0568	19.9944	0.97379	0.0:0.0:1.0:0.0	.	312	Q6UWP7	LCLT1_HUMAN	K	274;274;312;274	ENSP00000368823:E274K;ENSP00000310551:E312K;ENSP00000442857:E274K	ENSP00000310551:E312K	E	+	1	0	LCLAT1	30716678	1.000000	0.71417	0.488000	0.27440	0.130000	0.20726	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	GAA	LCLAT1	-	NULL		0.498	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1	G	NM_182551		30863174	+1	no_errors	ENST00000309052	ensembl	human	known	70_37	missense	SNP	1.000	A
LILRB5	10990	genome.wustl.edu	37	19	54754901	54754901	+	Intron	SNP	T	T	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:54754901T>C	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Silent_p.A578A|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTCTTCTGCCTGTCTGT	0.587																																																	0																																										SO:0001627	intron_variant	10990			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-105A>G	19.37:g.54754901T>C			Q8N760	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A578	ENST00000316219.5	37	c.1734	CCDS12885.1	19																																																																																			LILRB5	-	NULL		0.587	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	T			54754901	-1	no_errors	ENST00000450632	ensembl	human	known	70_37	silent	SNP	0.000	C
LINC00969	440993	genome.wustl.edu	37	3	195412596	195412596	+	lincRNA	SNP	A	A	G	rs374482149		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:195412596A>G	ENST00000445430.1	+	0	3793									long intergenic non-protein coding RNA 969																		CATGCCGTAAATCTACTTTTA	0.343																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412596A>G				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			AC069513.3	-	-		0.343	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	A			195412596	+1	no_errors	ENST00000414625	ensembl	human	known	70_37	rna	SNP	0.001	G
LOC442028	442028	genome.wustl.edu	37	2	95552784	95552784	+	RNA	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:95552784G>T	ENST00000568768.1	-	0	476																											TCATAAAGACGAAGGATTATC	0.383																																																	0																																												442028																															2.37:g.95552784G>T				RNA	SNP	-	NULL	ENST00000568768.1	37	NULL		2																																																																																			AC097374.2	-	-		0.383	AC097374.2-003	KNOWN	basic	processed_transcript	LOC442028	Clone_based_vega_gene	pseudogene	OTTHUMT00000431504.1	G			95552784	-1	no_errors	ENST00000582835	ensembl	human	known	70_37	rna	SNP	1.000	T
LPAR1	1902	genome.wustl.edu	37	9	113704217	113704217	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:113704217C>A	ENST00000374431.3	-	4	660	c.277G>T	c.(277-279)Gct>Tct	p.A93S	LPAR1_ENST00000538760.1_Missense_Mutation_p.A94S|LPAR1_ENST00000358883.4_Missense_Mutation_p.A93S|LPAR1_ENST00000541779.1_Missense_Mutation_p.A94S|LPAR1_ENST00000374430.2_Missense_Mutation_p.A93S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	93					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AAGTCTGCAGCAGCCAGATTA	0.468																																					NSCLC(115;661 2323 9836 34256)												0													107.0	115.0	112.0					9																	113704217		2203	4300	6503	SO:0001583	missense	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.277G>T	9.37:g.113704217C>A	ENSP00000363553:p.Ala93Ser		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.A94S	ENST00000374431.3	37	c.280	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310073	0.81247	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.70208	-0.4935	10	0.49607	T	0.09	.	18.0827	0.89445	0.0:1.0:0.0:0.0	.	94;94;93	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	S	93;94;93;93;75;94;93	ENSP00000363553:A93S;ENSP00000445697:A94S;ENSP00000363552:A93S;ENSP00000351755:A93S;ENSP00000440201:A94S;ENSP00000401810:A93S	ENSP00000351755:A93S	A	-	1	0	LPAR1	112744038	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.783000	0.85696	2.533000	0.85409	0.655000	0.94253	GCT	LPAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.468	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	C	NM_057159		113704217	-1	no_errors	ENST00000538760	ensembl	human	known	70_37	missense	SNP	1.000	A
MAG	4099	genome.wustl.edu	37	19	35793405	35793405	+	Missense_Mutation	SNP	C	C	T	rs199924214		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:35793405C>T	ENST00000392213.3	+	7	1184	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	MAG_ENST00000361922.4_Missense_Mutation_p.T342M|MAG_ENST00000537831.2_Missense_Mutation_p.T317M	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAGGGGGAGACGGTCTCTATC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		20027	0.0		0.0	False		,,,				2504	0.001																0													106.0	88.0	94.0					19																	35793405		2203	4300	6503	SO:0001583	missense	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1025C>T	19.37:g.35793405C>T	ENSP00000376048:p.Thr342Met		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T342M	ENST00000392213.3	37	c.1025	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565172	0.45694	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.12879	2.64;2.64;2.64	5.28	4.23	0.50019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.416754	0.26601	N	0.023466	T	0.31734	0.0806	M	0.74389	2.26	0.46701	D	0.999168	D;D;D	0.76494	0.998;0.995;0.999	P;P;P	0.60012	0.652;0.81;0.867	T	0.04796	-1.0926	10	0.52906	T	0.07	.	11.9245	0.52812	0.0:0.9139:0.0:0.0861	.	379;342;342	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	M	379;342;342;317	ENSP00000355234:T342M;ENSP00000376048:T342M;ENSP00000440695:T317M	ENSP00000262624:T379M	T	+	2	0	MAG	40485245	0.586000	0.26782	0.721000	0.30653	0.148000	0.21650	2.130000	0.42064	1.216000	0.43427	0.455000	0.32223	ACG	MAG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.577	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	C	NM_080600		35793405	+1	no_errors	ENST00000392213	ensembl	human	known	70_37	missense	SNP	0.863	T
MARCH6	10299	genome.wustl.edu	37	5	10415612	10415612	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:10415612G>A	ENST00000274140.5	+	21	2111	c.1979G>A	c.(1978-1980)cGt>cAt	p.R660H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R612H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R358H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R555H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	660					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGCTGGCCGTTGGTTAATG	0.413																																																	0													242.0	216.0	225.0					5																	10415612		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1979G>A	5.37:g.10415612G>A	ENSP00000274140:p.Arg660His		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R660H	ENST00000274140.5	37	c.1979	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.276706	0.95459	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.998	T	0.75091	-0.3440	10	0.87932	D	0	-22.0404	19.6218	0.95660	0.0:0.0:1.0:0.0	.	555;612;240;660	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	612;555;660;358	ENSP00000414643:R612H;ENSP00000425930:R555H;ENSP00000274140:R660H;ENSP00000424512:R358H	ENSP00000274140:R660H	R	+	2	0	MARCH6	10468612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.465000	0.97660	2.625000	0.88918	0.563000	0.77884	CGT	MARCH6	-	NULL		0.413	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10415612	+1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	A
MFF	56947	genome.wustl.edu	37	2	228221826	228221826	+	Missense_Mutation	SNP	G	G	C	rs62190918		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:228221826G>C	ENST00000353339.3	+	11	1463	c.1022G>C	c.(1021-1023)cGc>cCc	p.R341P	MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.R217P|MFF_ENST00000392059.1_Missense_Mutation_p.R341P|MFF_ENST00000409616.1_Missense_Mutation_p.R237P|MFF_ENST00000304593.9_Missense_Mutation_p.R290P|MFF_ENST00000409565.1_Missense_Mutation_p.R217P|MFF_ENST00000349901.7_Missense_Mutation_p.R237P|MFF_ENST00000524634.1_Missense_Mutation_p.R88P|MFF_ENST00000337110.7_Missense_Mutation_p.R242P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	341					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CTCTGGTTTCGCCGCTAGAGG	0.403																																																	0													108.0	94.0	99.0					2																	228221826		2203	4300	6503	SO:0001583	missense	56947			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.1022G>C	2.37:g.228221826G>C	ENSP00000302037:p.Arg341Pro		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.R341P	ENST00000353339.3	37	c.1022	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759412	0.89932	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.35973	1.28;1.28	6.07	6.07	0.98685	.	0.052545	0.85682	D	0.000000	T	0.61211	0.2329	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.974;0.993;0.99;0.981;0.989	T	0.59306	-0.7479	10	0.72032	D	0.01	-8.0328	20.6593	0.99626	0.0:0.0:1.0:0.0	.	217;242;237;290;341	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	P	290;341;217;217;237;242;88;237;341;153	ENSP00000302037:R341P;ENSP00000375912:R341P	ENSP00000304898:R290P	R	+	2	0	MFF	227930070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.066000	0.93949	2.885000	0.99019	0.655000	0.94253	CGC	MFF	-	pfam_FATE/Miff/Tango-11		0.403	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	G	NM_020194		228221826	+1	no_errors	ENST00000353339	ensembl	human	known	70_37	missense	SNP	1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49438040	49438040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:49438040T>A	ENST00000301067.7	-	21	5130	c.5131A>T	c.(5131-5133)Aaa>Taa	p.K1711*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1711					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCCCCTTTTTCGTGCGTGTG	0.622											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49.0	56.0	54.0					12																	49438040		2139	4248	6387	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5131A>T	12.37:g.49438040T>A	ENSP00000301067:p.Lys1711*	962	O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K1711*	ENST00000301067.7	37	c.5131	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	45	11.401675	0.99556	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.82	4.82	0.62117	.	0.000000	0.37348	N	0.002131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5015	0.61459	0.0:0.0:0.0:1.0	.	.	.	.	X	1711	.	ENSP00000301067:K1711X	K	-	1	0	MLL2	47724307	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	5.794000	0.69067	2.022000	0.59522	0.460000	0.39030	AAA	MLL2	-	NULL		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	T			49438040	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MMP8	4317	genome.wustl.edu	37	11	102589172	102589172	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:102589172C>T	ENST00000236826.3	-	5	855	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	253					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CCATCGATGTCATCTTGAGGG	0.493																																																	0													117.0	96.0	103.0					11																	102589172		2203	4299	6502	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.757G>A	11.37:g.102589172C>T	ENSP00000236826:p.Asp253Asn		Q45F99	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D253N	ENST00000236826.3	37	c.757	CCDS8320.1	11	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934845	0.92458	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.61392	0.11	5.45	5.45	0.79879	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000006	D	0.85991	0.5826	H	0.97962	4.115	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	0.90870	0.4745	10	0.87932	D	0	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	253;188;253	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	N	253;230;188	ENSP00000236826:D253N	ENSP00000236826:D253N	D	-	1	0	MMP8	102094382	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.338000	0.79269	2.716000	0.92895	0.655000	0.94253	GAC	MMP8	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.493	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	C	NM_002424		102589172	-1	no_errors	ENST00000236826	ensembl	human	known	70_37	missense	SNP	1.000	T
MNS1	55329	genome.wustl.edu	37	15	56748599	56748599	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:56748599C>G	ENST00000260453.3	-	3	510	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	116	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TACCTGTTTTCTCTTACTTGT	0.323																																																	0													178.0	162.0	167.0					15																	56748599		2191	4292	6483	SO:0001583	missense	55329			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.346G>C	15.37:g.56748599C>G	ENSP00000260453:p.Glu116Gln		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.E116Q	ENST00000260453.3	37	c.346	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019996	0.75275	.	.	ENSG00000138587	ENST00000260453	T	0.13901	2.55	5.61	5.61	0.85477	.	0.093491	0.64402	D	0.000001	T	0.41650	0.1168	M	0.82630	2.6	0.51482	D	0.999926	D	0.89917	1.0	D	0.74348	0.983	T	0.14587	-1.0467	10	0.42905	T	0.14	-22.6881	17.491	0.87703	0.0:1.0:0.0:0.0	.	116	Q8NEH6	MNS1_HUMAN	Q	116	ENSP00000260453:E116Q	ENSP00000260453:E116Q	E	-	1	0	MNS1	54535891	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.185000	0.50934	2.793000	0.96121	0.655000	0.94253	GAA	MNS1	-	NULL		0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	C	NM_018365		56748599	-1	no_errors	ENST00000260453	ensembl	human	known	70_37	missense	SNP	1.000	G
MOCOS	55034	genome.wustl.edu	37	18	33779772	33779772	+	Silent	SNP	G	G	C	rs200042891		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:33779772G>C	ENST00000261326.5	+	4	447	c.426G>C	c.(424-426)ggG>ggC	p.G142G		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGAGCAGTGGGAGTCGCTTCT	0.582																																																	0													55.0	47.0	50.0					18																	33779772		2203	4300	6503	SO:0001819	synonymous_variant	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.426G>C	18.37:g.33779772G>C				Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.G142	ENST00000261326.5	37	c.426	CCDS11919.1	18																																																																																			MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.582	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	G			33779772	+1	no_errors	ENST00000261326	ensembl	human	known	70_37	silent	SNP	0.991	C
MUC6	4588	genome.wustl.edu	37	11	1018394	1018394	+	Missense_Mutation	SNP	C	C	G	rs111444881		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:1018394C>G	ENST00000421673.2	-	31	4457	c.4407G>C	c.(4405-4407)caG>caC	p.Q1469H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1469	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGTGGCCATCTGTGCGTGGG	0.567																																																	0													271.0	265.0	267.0					11																	1018394		2190	4284	6474	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4407G>C	11.37:g.1018394C>G	ENSP00000406861:p.Gln1469His		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q1469H	ENST00000421673.2	37	c.4407	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	1.455	-0.563913	0.03939	.	.	ENSG00000184956	ENST00000421673	T	0.14516	2.5	2.69	-5.37	0.02681	.	.	.	.	.	T	0.04452	0.0122	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35549	-0.9784	9	0.41790	T	0.15	.	2.341	0.04260	0.1151:0.3165:0.345:0.2235	.	1469	Q6W4X9	MUC6_HUMAN	H	1469	ENSP00000406861:Q1469H	ENSP00000406861:Q1469H	Q	-	3	2	MUC6	1008394	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.748000	0.04818	-1.438000	0.01965	-0.657000	0.03884	CAG	MUC6	-	NULL		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	C	XM_290540		1018394	-1	no_errors	ENST00000421673	ensembl	human	known	70_37	missense	SNP	0.000	G
MRGPRX1	259249	genome.wustl.edu	37	11	18956110	18956110	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:18956110G>A	ENST00000302797.3	-	1	446	c.222C>T	c.(220-222)ctC>ctT	p.L74L	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	74					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGCTGAGGAAGAGGAAGTCTG	0.517																																																	0													131.0	131.0	131.0					11																	18956110		2194	4285	6479	SO:0001819	synonymous_variant	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.222C>T	11.37:g.18956110G>A			Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L74	ENST00000302797.3	37	c.222	CCDS7846.1	11																																																																																			MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	G	NM_147199		18956110	-1	no_errors	ENST00000302797	ensembl	human	known	70_37	silent	SNP	0.974	A
MYCBP2	23077	genome.wustl.edu	37	13	77862415	77862415	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr13:77862415G>C	ENST00000544440.2	-	3	378	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L121V|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L159V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCCATTCCAGAACGCAATGG	0.393																																																	0													147.0	148.0	147.0					13																	77862415		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.361C>G	13.37:g.77862415G>C	ENSP00000444596:p.Leu121Val			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L159V	ENST00000544440.2	37	c.475		13	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353400	0.41700	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.38560	1.14;1.13;1.14	5.96	5.11	0.69529	.	0.000000	0.64402	D	0.000008	T	0.55178	0.1904	L	0.52573	1.65	0.50313	D	0.999862	P	0.52842	0.956	D	0.65010	0.931	T	0.57487	-0.7803	10	0.72032	D	0.01	.	11.1018	0.48179	0.1613:0.0:0.8387:0.0	.	121	O75592	MYCB2_HUMAN	V	121;159;121	ENSP00000349892:L121V;ENSP00000384288:L159V;ENSP00000444596:L121V	ENSP00000349892:L121V	L	-	1	2	MYCBP2	76760416	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	5.125000	0.64715	1.497000	0.48584	0.655000	0.94253	CTG	MYCBP2	-	NULL		0.393	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	G	NM_015057		77862415	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	C
NACC1	112939	genome.wustl.edu	37	19	13246773	13246773	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:13246773G>A	ENST00000292431.4	+	2	878	c.752G>A	c.(751-753)gGt>gAt	p.G251D		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	251					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCAGCAGGGGGTGTGGTGAGT	0.721																																																	0													22.0	25.0	24.0					19																	13246773		2186	4289	6475	SO:0001583	missense	112939			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.752G>A	19.37:g.13246773G>A	ENSP00000292431:p.Gly251Asp			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.G251D	ENST00000292431.4	37	c.752	CCDS12294.1	19	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267889	0.10349	.	.	ENSG00000160877	ENST00000292431	T	0.55760	0.5	5.19	-1.44	0.08856	.	0.339869	0.29087	N	0.013196	T	0.35038	0.0918	L	0.40543	1.245	0.09310	N	1	P	0.43431	0.807	B	0.39738	0.308	T	0.44802	-0.9304	10	0.12430	T	0.62	.	9.7048	0.40209	0.0883:0.5808:0.3309:0.0	.	251	Q96RE7	NACC1_HUMAN	D	251	ENSP00000292431:G251D	ENSP00000292431:G251D	G	+	2	0	NACC1	13107773	0.270000	0.24152	0.012000	0.15200	0.048000	0.14542	-0.229000	0.09098	-0.382000	0.07870	-0.720000	0.03607	GGT	NACC1	-	NULL		0.721	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	G	NM_052876		13246773	+1	no_errors	ENST00000292431	ensembl	human	known	70_37	missense	SNP	0.010	A
NCAM2	4685	genome.wustl.edu	37	21	22710717	22710717	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:22710717C>G	ENST00000400546.1	+	8	1156	c.907C>G	c.(907-909)Cac>Gac	p.H303D	NCAM2_ENST00000535285.1_Missense_Mutation_p.H328D|NCAM2_ENST00000284894.7_Missense_Mutation_p.H161D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	303	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTACAGCCTCACATAATACA	0.363																																																	0													53.0	52.0	53.0					21																	22710717		1840	4081	5921	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.907C>G	21.37:g.22710717C>G	ENSP00000383392:p.His303Asp		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.H303D	ENST00000400546.1	37	c.907	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315956	0.60524	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.59638	0.25;0.34;1.34	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042474	0.85682	D	0.000000	T	0.65048	0.2654	L	0.38692	1.165	0.58432	D	0.999996	P;P;B	0.45531	0.86;0.509;0.327	P;P;B	0.54544	0.755;0.527;0.155	T	0.66308	-0.5956	10	0.87932	D	0	-16.9086	18.6141	0.91296	0.0:1.0:0.0:0.0	.	328;161;303	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	D	303;161;328	ENSP00000383392:H303D;ENSP00000284894:H161D;ENSP00000441887:H328D	ENSP00000284894:H161D	H	+	1	0	NCAM2	21632588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.141000	0.58038	2.736000	0.93811	0.591000	0.81541	CAC	NCAM2	-	pfscan_Ig-like,prints_Neural_cell_adh		0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22710717	+1	no_errors	ENST00000400546	ensembl	human	known	70_37	missense	SNP	1.000	G
NFE2L2	4780	genome.wustl.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29H	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098960	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NOL4	8715	genome.wustl.edu	37	18	31432886	31432886	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr18:31432886C>A	ENST00000261592.5	-	11	2134	c.1837G>T	c.(1837-1839)Gtt>Ttt	p.V613F	NOL4_ENST00000538587.1_Missense_Mutation_p.V539F|NOL4_ENST00000535475.1_Missense_Mutation_p.V394F|NOL4_ENST00000535384.1_Missense_Mutation_p.V328F|NOL4_ENST00000269185.4_Missense_Mutation_p.V397F|NOL4_ENST00000589544.1_Missense_Mutation_p.V511F	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	613						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TATCCTGCAACAAGCTGTCTC	0.463																																																	0													130.0	113.0	119.0					18																	31432886		2203	4300	6503	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1837G>T	18.37:g.31432886C>A	ENSP00000261592:p.Val613Phe		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.V613F	ENST00000261592.5	37	c.1837	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311365	0.60414	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	T	0.77391	0.4123	L	0.53249	1.67	0.58432	D	0.99999	D;D;D;D;D;D	0.76494	0.996;0.996;0.999;0.996;0.984;0.999	P;P;D;P;D;D	0.74023	0.907;0.899;0.974;0.907;0.946;0.982	T	0.77416	-0.2596	9	0.87932	D	0	-14.0226	20.4082	0.99013	0.0:1.0:0.0:0.0	.	328;539;613;328;511;394	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	F	613;397;328;394;539	.	ENSP00000261592:V613F	V	-	1	0	NOL4	29686884	1.000000	0.71417	0.976000	0.42696	0.998000	0.95712	5.655000	0.67981	2.814000	0.96858	0.655000	0.94253	GTT	NOL4	-	NULL		0.463	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	C	NM_003787		31432886	-1	no_errors	ENST00000261592	ensembl	human	known	70_37	missense	SNP	0.999	A
NOTCH1	4851	genome.wustl.edu	37	9	139399887	139399887	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139399887C>G	ENST00000277541.6	-	25	4536	c.4461G>C	c.(4459-4461)tgG>tgC	p.W1487C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1487					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCAGTTCTTCCAGGGGTCAT	0.612			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													38.0	46.0	44.0					9																	139399887		2153	4252	6405	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4461G>C	9.37:g.139399887C>G	ENSP00000277541:p.Trp1487Cys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.W1487C	ENST00000277541.6	37	c.4461	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991357	0.74703	.	.	ENSG00000148400	ENST00000277541	D	0.84442	-1.85	4.18	4.18	0.49190	Notch domain (3);	0.000000	0.85682	U	0.000000	D	0.93086	0.7799	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94109	0.7369	10	0.54805	T	0.06	.	15.4752	0.75471	0.0:1.0:0.0:0.0	.	1487	P46531	NOTC1_HUMAN	C	1487	ENSP00000277541:W1487C	ENSP00000277541:W1487C	W	-	3	0	NOTCH1	138519708	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.626000	0.83164	1.863000	0.54032	0.579000	0.79373	TGG	NOTCH1	-	smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom		0.612	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139399887	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	G
NOTCH1	4851	genome.wustl.edu	37	9	139400124	139400124	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139400124C>A	ENST00000277541.6	-	25	4299	c.4224G>T	c.(4222-4224)gaG>gaT	p.E1408D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1408	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGAAGGGGCTCTCGGATGTGG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													19.0	24.0	22.0					9																	139400124		1912	4106	6018	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4224G>T	9.37:g.139400124C>A	ENSP00000277541:p.Glu1408Asp		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1408D	ENST00000277541.6	37	c.4224	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165149	0.21538	.	.	ENSG00000148400	ENST00000277541	T	0.54479	0.57	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.173587	0.49305	U	0.000144	T	0.31949	0.0813	N	0.11000	0.08	0.58432	D	0.999991	B	0.11235	0.004	B	0.17979	0.02	T	0.12192	-1.0557	10	0.16420	T	0.52	.	12.9334	0.58301	0.0:0.8226:0.1774:0.0	.	1408	P46531	NOTC1_HUMAN	D	1408	ENSP00000277541:E1408D	ENSP00000277541:E1408D	E	-	3	2	NOTCH1	138519945	1.000000	0.71417	0.998000	0.56505	0.109000	0.19521	1.424000	0.34848	2.062000	0.61559	0.643000	0.83706	GAG	NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139400124	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	A
NOTCH1	4851	genome.wustl.edu	37	9	139400126	139400126	+	Missense_Mutation	SNP	C	C	T	rs587778569		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139400126C>T	ENST00000277541.6	-	25	4297	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1408	EGF-like 36. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGGGGCTCTCGGATGTGGGC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													18.0	24.0	22.0					9																	139400126		1911	4106	6017	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4222G>A	9.37:g.139400126C>T	ENSP00000277541:p.Glu1408Lys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1408K	ENST00000277541.6	37	c.4222	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842603	0.51057	.	.	ENSG00000148400	ENST00000277541	T	0.55052	0.54	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.173587	0.49305	U	0.000144	T	0.49218	0.1544	L	0.45228	1.405	0.80722	D	1	P	0.51791	0.948	P	0.46320	0.512	T	0.42207	-0.9465	10	0.17832	T	0.49	.	16.289	0.82738	0.0:1.0:0.0:0.0	.	1408	P46531	NOTC1_HUMAN	K	1408	ENSP00000277541:E1408K	ENSP00000277541:E1408K	E	-	1	0	NOTCH1	138519947	1.000000	0.71417	0.945000	0.38365	0.057000	0.15508	7.133000	0.77259	2.062000	0.61559	0.643000	0.83706	GAG	NOTCH1	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139400126	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139401856	139401856	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:139401856C>G	ENST00000277541.6	-	22	3619	c.3544G>C	c.(3544-3546)Gag>Cag	p.E1182Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1182					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGATCTCCTCAGAGCAGTTC	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													35.0	42.0	40.0					9																	139401856		2050	4179	6229	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3544G>C	9.37:g.139401856C>G	ENSP00000277541:p.Glu1182Gln		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1182Q	ENST00000277541.6	37	c.3544	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928283	0.34002	.	.	ENSG00000148400	ENST00000277541	D	0.89343	-2.5	5.36	5.36	0.76844	.	0.168448	0.51477	D	0.000094	D	0.83004	0.5160	L	0.31804	0.96	0.47183	D	0.999342	B	0.09022	0.002	B	0.13407	0.009	T	0.77560	-0.2542	10	0.13470	T	0.59	.	18.057	0.89366	0.0:1.0:0.0:0.0	.	1182	P46531	NOTC1_HUMAN	Q	1182	ENSP00000277541:E1182Q	ENSP00000277541:E1182Q	E	-	1	0	NOTCH1	138521677	0.890000	0.30428	1.000000	0.80357	0.475000	0.33008	1.794000	0.38774	2.498000	0.84270	0.609000	0.83330	GAG	NOTCH1	-	pirsf_Notch		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139401856	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.998	G
NPR1	4881	genome.wustl.edu	37	1	153660530	153660530	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:153660530G>A	ENST00000368680.3	+	15	2722	c.2250G>A	c.(2248-2250)gaG>gaA	p.E750E		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAATACAGAGATCATCGAGC	0.652																																					Pancreas(141;1349 1870 15144 15830 40702)												0													40.0	40.0	40.0					1																	153660530		2203	4298	6501	SO:0001630	splice_region_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2249-1G>A	1.37:g.153660530G>A			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.E750	ENST00000368680.3	37	c.2250	CCDS1051.1	1																																																																																			NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.652	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906	Silent	153660530	+1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	1.000	A
NT5C1B	93034	genome.wustl.edu	37	2	18765969	18765969	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:18765969C>T	ENST00000359846.2	-	5	791	c.714G>A	c.(712-714)acG>acA	p.T238T	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Silent_p.T238T|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.T178T|NT5C1B_ENST00000600945.1_Silent_p.T238T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	238					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGGTGGGGGACGTGCGCGAAT	0.657																																																	0													29.0	30.0	29.0					2																	18765969		2203	4299	6502	SO:0001819	synonymous_variant	93034			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.714G>A	2.37:g.18765969C>T			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	NULL	p.R156H	ENST00000359846.2	37	c.467	CCDS33150.1	2																																																																																			NT5C1B	-	NULL		0.657	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	C			18765969	-1	no_errors	ENST00000406971	ensembl	human	known	70_37	missense	SNP	0.000	T
NUDT9	53343	genome.wustl.edu	37	4	88356180	88356180	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:88356180C>T	ENST00000302174.4	+	2	479	c.155C>T	c.(154-156)tCt>tTt	p.S52F	NUDT9_ENST00000473942.1_Missense_Mutation_p.S2F	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	52					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AACGTCATGTCTGGTTCTAAT	0.358																																																	0													74.0	73.0	73.0					4																	88356180		2203	4300	6503	SO:0001583	missense	53343			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.155C>T	4.37:g.88356180C>T	ENSP00000303575:p.Ser52Phe		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.S52F	ENST00000302174.4	37	c.155	CCDS3620.1	4	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189985	0.38707	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.76316	-1.01;2.12;2.38;2.35	5.05	3.33	0.38152	.	0.583487	0.18339	N	0.144236	T	0.72716	0.3495	M	0.70595	2.14	0.27439	N	0.953779	B;B	0.21905	0.008;0.062	B;B	0.15870	0.009;0.014	T	0.65541	-0.6143	10	0.52906	T	0.07	-3.7158	6.8457	0.23987	0.0:0.7001:0.0:0.2999	.	52;52	Q96KB3;Q9BW91	.;NUDT9_HUMAN	F	52;2;2;52	ENSP00000303575:S52F;ENSP00000424702:S2F;ENSP00000421811:S2F;ENSP00000410270:S52F	ENSP00000303575:S52F	S	+	2	0	NUDT9	88575204	0.490000	0.26012	0.975000	0.42487	0.960000	0.62799	0.835000	0.27531	0.642000	0.30620	0.467000	0.42956	TCT	NUDT9	-	NULL		0.358	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT9	HGNC	protein_coding	OTTHUMT00000253035.2	C			88356180	+1	no_errors	ENST00000302174	ensembl	human	known	70_37	missense	SNP	0.960	T
OLA1	29789	genome.wustl.edu	37	2	175094076	175094076	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:175094076C>T	ENST00000409546.1	-	3	895	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	OLA1_ENST00000284719.3_Missense_Mutation_p.E69K|OLA1_ENST00000428402.2_Missense_Mutation_p.E69K|OLA1_ENST00000344357.5_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TCAAACCTTTCATCTGGCACA	0.373																																																	0													82.0	80.0	81.0					2																	175094076		2203	4300	6503	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.265G>A	2.37:g.175094076C>T	ENSP00000386350:p.Glu89Lys			Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.E69K	ENST00000409546.1	37	c.205		2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532441	0.64972	.	.	ENSG00000138430	ENST00000284719;ENST00000428402;ENST00000409546;ENST00000427472	T;T;T;T	0.45276	2.26;0.9;2.26;0.95	5.51	5.51	0.81932	GTP-binding domain, HSR1-related (1);	0.211827	0.49916	D	0.000127	T	0.39860	0.1094	L	0.39514	1.22	0.58432	D	0.999998	B;B;B	0.21452	0.056;0.011;0.011	B;B;B	0.22601	0.04;0.029;0.029	T	0.11494	-1.0585	10	0.38643	T	0.18	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	69;69;69	Q9NTK5-3;D7EHM2;Q9NTK5	.;.;OLA1_HUMAN	K	69;69;89;69	ENSP00000284719:E69K;ENSP00000410385:E69K;ENSP00000386350:E89K;ENSP00000414568:E69K	ENSP00000284719:E69K	E	-	1	0	OLA1	174802322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.750000	0.94351	0.655000	0.94253	GAA	OLA1	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,tigrfam_CHP00092		0.373	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	C	NM_013341		175094076	-1	no_errors	ENST00000284719	ensembl	human	known	70_37	missense	SNP	1.000	T
OXNAD1	92106	genome.wustl.edu	37	3	16313177	16313177	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:16313177C>T	ENST00000285083.5	+	4	596	c.131C>T	c.(130-132)tCc>tTc	p.S44F	OXNAD1_ENST00000435829.2_Missense_Mutation_p.S62F|OXNAD1_ENST00000605932.1_Missense_Mutation_p.S44F|OXNAD1_ENST00000606098.1_Missense_Mutation_p.S44F|OXNAD1_ENST00000544043.1_Missense_Mutation_p.S62F	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	44						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						ATAATGAAATCCAAAAGGAAA	0.328																																																	0													86.0	86.0	86.0					3																	16313177		2203	4300	6503	SO:0001583	missense	92106			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.131C>T	3.37:g.16313177C>T	ENSP00000285083:p.Ser44Phe		Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.S62F	ENST00000285083.5	37	c.185	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440588	0.63067	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.25912	2.16;1.77;2.14	5.86	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.76494	0.999;0.995	D;P	0.71870	0.975;0.873	T	0.45920	-0.9228	10	0.72032	D	0.01	-6.5096	10.6119	0.45427	0.0:0.9123:0.0:0.0877	.	62;44	F5H620;Q96HP4	.;OXND1_HUMAN	F	44;44;62	ENSP00000285083:S44F;ENSP00000389872:S44F;ENSP00000437967:S62F	ENSP00000285083:S44F	S	+	2	0	OXNAD1	16288181	0.997000	0.39634	1.000000	0.80357	0.707000	0.40811	4.071000	0.57556	1.477000	0.48234	0.650000	0.86243	TCC	OXNAD1	-	NULL		0.328	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1	C	NM_138381		16313177	+1	no_errors	ENST00000544043	ensembl	human	known	70_37	missense	SNP	1.000	T
PCSK7	9159	genome.wustl.edu	37	11	117079626	117079626	+	Missense_Mutation	SNP	G	G	C	rs202038275		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:117079626G>C	ENST00000320934.3	-	13	2308	c.1678C>G	c.(1678-1680)Cgc>Ggc	p.R560G	PCSK7_ENST00000540028.1_Missense_Mutation_p.R201G|PCSK7_ENST00000529458.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	560					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCATGCTGCGGGGGGCGCCG	0.597			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													40.0	43.0	42.0					11																	117079626		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1678C>G	11.37:g.117079626G>C	ENSP00000325917:p.Arg560Gly		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R560G	ENST00000320934.3	37	c.1678	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082462	0.36758	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	T;T	0.71222	-0.55;-0.55	4.68	3.77	0.43336	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	M	0.85099	2.735	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	D	0.83562	0.0107	10	0.87932	D	0	-26.4093	7.8865	0.29653	0.0864:0.0:0.7545:0.1591	.	560	Q16549	PCSK7_HUMAN	G	560;201;560	ENSP00000325917:R560G;ENSP00000441944:R201G	ENSP00000325917:R560G	R	-	1	0	PCSK7	116584836	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.527000	0.35975	1.207000	0.43291	-0.362000	0.07510	CGC	PCSK7	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like		0.597	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	G	NM_004716		117079626	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	1.000	C
PDE3A	5139	genome.wustl.edu	37	12	20709614	20709614	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:20709614G>T	ENST00000359062.3	+	2	1021	c.981G>T	c.(979-981)tgG>tgT	p.W327C		NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	327					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATTCAGAATGGGACCACAAAC	0.343																																																	0													89.0	87.0	88.0					12																	20709614		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.981G>T	12.37:g.20709614G>T	ENSP00000351957:p.Trp327Cys		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.W327C	ENST00000359062.3	37	c.981	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265502	0.59431	.	.	ENSG00000172572	ENST00000359062	D	0.84223	-1.82	5.0	5.0	0.66597	.	1.652190	0.02318	N	0.072729	D	0.92648	0.7664	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81632	-0.0845	10	0.87932	D	0	.	14.0489	0.64722	0.0:0.0:1.0:0.0	.	327	Q14432	PDE3A_HUMAN	C	327	ENSP00000351957:W327C	ENSP00000351957:W327C	W	+	3	0	PDE3A	20600881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.967000	0.63722	2.772000	0.95346	0.580000	0.79431	TGG	PDE3A	-	NULL		0.343	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	G			20709614	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	1.000	T
PDS5A	23244	genome.wustl.edu	37	4	39924314	39924314	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:39924314G>A	ENST00000303538.8	-	6	1121	c.582C>T	c.(580-582)atC>atT	p.I194I	PDS5A_ENST00000503396.1_Silent_p.I194I	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTCCATGATGATAGAACTCA	0.333																																																	0													107.0	100.0	103.0					4																	39924314		1875	4106	5981	SO:0001819	synonymous_variant	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.582C>T	4.37:g.39924314G>A				Silent	SNP	superfamily_ARM-type_fold	p.I194	ENST00000303538.8	37	c.582	CCDS47045.1	4																																																																																			PDS5A	-	superfamily_ARM-type_fold		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	G	NM_015200		39924314	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	silent	SNP	1.000	A
PHF14	9678	genome.wustl.edu	37	7	11053396	11053396	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:11053396G>A	ENST00000403050.3	+	5	1520	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	PHF14_ENST00000445996.2_Silent_p.E71E	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	356					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTGATGGAGAGAGTGACTCTA	0.338																																																	0													131.0	118.0	122.0					7																	11053396		1849	4101	5950	SO:0001819	synonymous_variant	9678			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1068G>A	7.37:g.11053396G>A			A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E356	ENST00000403050.3	37	c.1068	CCDS47542.1	7																																																																																			PHF14	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.338	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	G	NM_014660		11053396	+1	no_errors	ENST00000403050	ensembl	human	known	70_37	silent	SNP	0.993	A
PHKA2	5256	genome.wustl.edu	37	X	18924858	18924858	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:18924858G>A	ENST00000379942.4	-	24	3337	c.2672C>T	c.(2671-2673)aCg>aTg	p.T891M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	891					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T891M(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCAGACCTGCGTGAGGACGGC	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)											158.0	144.0	149.0					X																	18924858		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2672C>T	X.37:g.18924858G>A	ENSP00000369274:p.Thr891Met		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T891M	ENST00000379942.4	37	c.2672	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050634	0.75960	.	.	ENSG00000044446	ENST00000379942	D	0.90197	-2.63	4.95	4.95	0.65309	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97637	1.0146	10	0.87932	D	0	-13.1398	17.6171	0.88070	0.0:0.0:1.0:0.0	.	891	P46019	KPB2_HUMAN	M	891	ENSP00000369274:T891M	ENSP00000369274:T891M	T	-	2	0	PHKA2	18834779	1.000000	0.71417	0.985000	0.45067	0.422000	0.31414	9.708000	0.98727	2.176000	0.68965	0.513000	0.50165	ACG	PHKA2	-	pfam_Glyco_hydro_15		0.597	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	G	NM_000292		18924858	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3R4	30849	genome.wustl.edu	37	3	130399528	130399528	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr3:130399528C>T	ENST00000356763.3	-	19	4392	c.3835G>A	c.(3835-3837)Gtt>Att	p.V1279I	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1279					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTTCCTGCAACAACATAGGAC	0.408																																																	0													103.0	101.0	102.0					3																	130399528		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3835G>A	3.37:g.130399528C>T	ENSP00000349205:p.Val1279Ile		Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1279I	ENST00000356763.3	37	c.3835	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988018	0.35036	.	.	ENSG00000196455	ENST00000356763	T	0.05786	3.39	5.62	3.85	0.44370	WD40 repeat-like-containing domain (1);	0.057195	0.64402	D	0.000001	T	0.04861	0.0131	L	0.31065	0.9	0.45056	D	0.998078	B	0.14438	0.01	B	0.14578	0.011	T	0.38001	-0.9681	10	0.13853	T	0.58	-20.1722	9.7157	0.40274	0.0:0.7882:0.0:0.2118	.	1279	Q99570	PI3R4_HUMAN	I	1279	ENSP00000349205:V1279I	ENSP00000349205:V1279I	V	-	1	0	PIK3R4	131882218	1.000000	0.71417	0.049000	0.19019	0.931000	0.56810	3.726000	0.54977	0.754000	0.32968	-0.147000	0.13772	GTT	PIK3R4	-	superfamily_WD40_repeat_dom		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	C	NM_014602		130399528	-1	no_errors	ENST00000356763	ensembl	human	known	70_37	missense	SNP	1.000	T
PKN3	29941	genome.wustl.edu	37	9	131476384	131476384	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:131476384C>G	ENST00000291906.4	+	10	1689	c.1296C>G	c.(1294-1296)atC>atG	p.I432M		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	432					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGGAACGCATCTTCTCTAAAC	0.632																																																	0													80.0	85.0	83.0					9																	131476384		2203	4300	6503	SO:0001583	missense	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1296C>G	9.37:g.131476384C>G	ENSP00000291906:p.Ile432Met		Q9UM03	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.I432M	ENST00000291906.4	37	c.1296	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279451	0.40294	.	.	ENSG00000160447	ENST00000291906	T	0.40756	1.02	5.16	1.65	0.23941	.	.	.	.	.	T	0.43344	0.1243	M	0.82823	2.61	0.41185	D	0.986266	P	0.43477	0.808	B	0.42851	0.4	T	0.40720	-0.9548	9	0.66056	D	0.02	.	3.0998	0.06322	0.1801:0.301:0.0:0.5189	.	432	Q6P5Z2	PKN3_HUMAN	M	432	ENSP00000291906:I432M	ENSP00000291906:I432M	I	+	3	3	PKN3	130516205	0.963000	0.33076	0.986000	0.45419	0.667000	0.39255	0.028000	0.13644	0.321000	0.23259	-0.379000	0.06801	ATC	PKN3	-	NULL		0.632	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	C	NM_013355		131476384	+1	no_errors	ENST00000291906	ensembl	human	known	70_37	missense	SNP	0.997	G
PRAMEF4	400735	genome.wustl.edu	37	1	12939661	12939661	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:12939661C>G	ENST00000235349.5	-	4	1211	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	381					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTTGAGCTCAAAGCAGCGG	0.507																																																	0													84.0	87.0	86.0					1																	12939661		1498	2675	4173	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1141G>C	1.37:g.12939661C>G	ENSP00000235349:p.Glu381Gln		Q5LJB5	Missense_Mutation	SNP	NULL	p.E381Q	ENST00000235349.5	37	c.1141	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.500400	0.00157	.	.	ENSG00000243073	ENST00000235349	T	0.08102	3.13	1.48	0.509	0.16977	.	0.246654	0.35040	N	0.003492	T	0.01489	0.0048	N	0.00890	-1.11	0.09310	N	1	P	0.35401	0.499	B	0.29440	0.102	T	0.44174	-0.9345	10	0.02654	T	1	.	5.5088	0.16868	0.0:0.3709:0.6291:0.0	.	381	O60810	PRAM4_HUMAN	Q	381	ENSP00000235349:E381Q	ENSP00000235349:E381Q	E	-	1	0	PRAMEF4	12862248	0.174000	0.23070	0.008000	0.14137	0.004000	0.04260	0.374000	0.20501	0.177000	0.19895	-0.723000	0.03601	GAG	PRAMEF4	-	NULL		0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	C	NM_001009611		12939661	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.010	G
PPIAL4A	164022	genome.wustl.edu	37	1	147955236	147955236	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:147955236G>A	ENST00000539781.1	-	1	183	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_178230.1	NP_839944.1	Q9Y536	PAL4A_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4A	37	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)	1						CTCAGAGCACGAAAGTTTTCC	0.483																																																	0													2.0	3.0	3.0					1																	147955236		427	2126	2553	SO:0001583	missense	653505			AB084917		1q21.1	2012-10-03	2008-09-16	2008-09-16	ENSG00000255963				24369	protein-coding gene	gene with protein product			"""peptidylprolyl isomerase A (cyclophilin A)-like 4"""	PPIAL4		11948409	Standard			Approved	COAS2		Q9Y536	OTTHUMG00000013920	ENST00000539781.1:c.109C>T	1.37:g.147955236G>A	ENSP00000439146:p.Arg37Cys			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R37C	ENST00000539781.1	37	c.109	CCDS30835.1	1	.	.	.	.	.	.	.	.	.	.	.	7.167	0.586797	0.13749	.	.	ENSG00000255963	ENST00000539781	T	0.23552	1.9	0.109	-0.218	0.13142	.	0.132501	0.49305	N	0.000160	T	0.11110	0.0271	.	.	.	0.32371	N	0.555851	.	.	.	.	.	.	T	0.19745	-1.0296	7	0.54805	T	0.06	.	4.5397	0.12050	0.319:0.0:0.681:0.0	.	.	.	.	C	37	ENSP00000439146:R37C	ENSP00000439146:R37C	R	-	1	0	PPIAL4A	146421860	1.000000	0.71417	0.006000	0.13384	0.006000	0.05464	2.782000	0.47758	-1.206000	0.02641	-1.207000	0.01640	CGT	PPIAL4A	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.483	PPIAL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4A	HGNC	protein_coding	OTTHUMT00000039085.2	G	NM_178230		147955236	-1	no_errors	ENST00000539781	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPN13	5783	genome.wustl.edu	37	4	87653763	87653763	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr4:87653763G>A	ENST00000411767.2	+	12	1765	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	PTPN13_ENST00000436978.1_Missense_Mutation_p.E568K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E568K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E568K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E568K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	568					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGGAAGAATGAGGATAACCG	0.308																																																	0													108.0	99.0	102.0					4																	87653763		1851	4090	5941	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1702G>A	4.37:g.87653763G>A	ENSP00000407249:p.Glu568Lys		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E568K	ENST00000411767.2	37	c.1702	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890906	0.52014	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53423	0.62;0.65;0.72;0.62;0.65	5.65	5.65	0.86999	Band 4.1 domain (1);	0.395176	0.21084	N	0.080427	T	0.39306	0.1073	N	0.19112	0.55	0.80722	D	1	P;B;B;P	0.41784	0.762;0.259;0.27;0.532	B;B;B;B	0.40901	0.343;0.188;0.112;0.302	T	0.17137	-1.0379	10	0.32370	T	0.25	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	568;568;568;568	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	568;568;568;568;568;536	ENSP00000408368:E568K;ENSP00000394794:E568K;ENSP00000322675:E568K;ENSP00000407249:E568K;ENSP00000426626:E568K	ENSP00000322675:E568K	E	+	1	0	PTPN13	87872787	1.000000	0.71417	0.998000	0.56505	0.354000	0.29330	9.795000	0.99099	2.653000	0.90120	0.563000	0.77884	GAG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,smart_Band_41_domain		0.308	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87653763	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRN	5798	genome.wustl.edu	37	2	220154978	220154978	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:220154978C>T	ENST00000295718.2	-	23	3150	c.2910G>A	c.(2908-2910)gtG>gtA	p.V970V	PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000409251.3_Silent_p.V941V|PTPRN_ENST00000423636.2_Silent_p.V880V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	970					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGATGGCATTCACTTCCTCCG	0.612																																																	0													45.0	41.0	42.0					2																	220154978		2203	4300	6503	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2910G>A	2.37:g.220154978C>T			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V970	ENST00000295718.2	37	c.2910	CCDS2440.1	2																																																																																			PTPRN	-	smart_Tyr_Pase_rcpt/non-rcpt		0.612	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	C			220154978	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRN	5798	genome.wustl.edu	37	2	220164721	220164721	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:220164721G>A	ENST00000295718.2	-	9	1662	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.I474I|PTPRN_ENST00000423636.2_Silent_p.I384I	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	474					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATCAGTGACGATGTAGCCAT	0.592																																																	0													57.0	59.0	58.0					2																	220164721		2203	4300	6503	SO:0001819	synonymous_variant	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1422C>T	2.37:g.220164721G>A			B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I474	ENST00000295718.2	37	c.1422	CCDS2440.1	2																																																																																			PTPRN	-	pfam_Receptor_IA-2		0.592	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	G			220164721	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	silent	SNP	0.984	A
PUM1	9698	genome.wustl.edu	37	1	31437722	31437722	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:31437722C>T	ENST00000257075.5	-	14	2215	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	PUM1_ENST00000423018.2_Missense_Mutation_p.D564N|PUM1_ENST00000373747.3_Missense_Mutation_p.D709N|PUM1_ENST00000424085.2_Missense_Mutation_p.D466N|PUM1_ENST00000373741.4_Missense_Mutation_p.D744N|PUM1_ENST00000373742.2_Missense_Mutation_p.D649N|PUM1_ENST00000426105.2_Missense_Mutation_p.D708N|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000440538.2_Missense_Mutation_p.D682N	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	708	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GTCAGGGAGTCACGGCGGGAG	0.488																																																	0													53.0	59.0	57.0					1																	31437722		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2122G>A	1.37:g.31437722C>T	ENSP00000257075:p.Asp708Asn		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.D708N	ENST00000257075.5	37	c.2122	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436066	0.83885	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.19806	2.17;2.12;2.37;2.37;2.45;2.36;2.47;2.14	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.64404	1.975	0.80722	D	1	D;D;D;D;P;P;P	0.89917	0.997;0.999;0.994;1.0;0.944;0.773;0.944	D;D;D;D;P;P;P	0.83275	0.928;0.971;0.928;0.996;0.818;0.597;0.818	T	0.27806	-1.0063	10	0.49607	T	0.09	-10.2452	19.4713	0.94963	0.0:1.0:0.0:0.0	.	649;564;744;682;708;708;708	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.	N	466;708;709;446;708;682;744;564;649	ENSP00000400141:D466N;ENSP00000257075:D708N;ENSP00000362852:D709N;ENSP00000391723:D708N;ENSP00000401777:D682N;ENSP00000362846:D744N;ENSP00000399440:D564N;ENSP00000362847:D649N	ENSP00000257075:D708N	D	-	1	0	PUM1	31210309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	GAC	PUM1	-	NULL		0.488	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	C			31437722	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	T
RAPH1	65059	genome.wustl.edu	37	2	204304738	204304738	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:204304738C>A	ENST00000319170.5	-	14	3474	c.3175G>T	c.(3175-3177)Gac>Tac	p.D1059Y	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.D1111Y|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1059					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCACGGAGTCCTTTCCACGC	0.522																																																	0													39.0	44.0	42.0					2																	204304738		2203	4300	6503	SO:0001583	missense	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.3175G>T	2.37:g.204304738C>A	ENSP00000316543:p.Asp1059Tyr		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.D1111Y	ENST00000319170.5	37	c.3331	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805133	0.31961	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	T;T	0.48522	0.81;0.81	4.52	4.52	0.55395	.	.	.	.	.	T	0.29028	0.0721	N	0.14661	0.345	0.80722	D	1	P	0.48162	0.906	B	0.38378	0.272	T	0.20107	-1.0285	9	0.72032	D	0.01	.	11.1831	0.48640	0.0:0.914:0.0:0.086	.	1059	Q70E73	RAPH1_HUMAN	Y	1059;1111	ENSP00000316543:D1059Y;ENSP00000363617:D1111Y	ENSP00000316543:D1059Y	D	-	1	0	RAPH1	204012983	1.000000	0.71417	0.521000	0.27850	0.013000	0.08279	3.617000	0.54181	2.235000	0.73313	0.467000	0.42956	GAC	RAPH1	-	NULL		0.522	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	C	NM_025252		204304738	-1	no_errors	ENST00000374493	ensembl	human	known	70_37	missense	SNP	0.995	A
RASAL3	64926	genome.wustl.edu	37	19	15562617	15562617	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:15562617C>T	ENST00000343625.7	-	18	3110	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000389282.4_5'Flank|WIZ_ENST00000263381.7_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	1009					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGGTGGTGTCTCCATTGAGG	0.597																																																	0													95.0	102.0	100.0					19																	15562617		2066	4186	6252	SO:0001583	missense	64926				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.3025G>A	19.37:g.15562617C>T	ENSP00000341905:p.Asp1009Asn		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.D1009N	ENST00000343625.7	37	c.3025	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777632	0.49786	.	.	ENSG00000105122	ENST00000343625	T	0.36340	1.26	4.23	3.17	0.36434	.	0.531595	0.14119	U	0.340165	T	0.25382	0.0617	L	0.27053	0.805	0.22918	N	0.998565	B	0.06786	0.001	B	0.04013	0.001	T	0.21690	-1.0238	10	0.87932	D	0	.	8.371	0.32415	0.0:0.8861:0.0:0.1139	.	1009	Q86YV0	RASL3_HUMAN	N	1009	ENSP00000341905:D1009N	ENSP00000341905:D1009N	D	-	1	0	RASAL3	15423617	1.000000	0.71417	0.995000	0.50966	0.709000	0.40893	2.269000	0.43346	0.732000	0.32470	0.462000	0.41574	GAC	RASAL3	-	NULL		0.597	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	C	NM_022904		15562617	-1	no_errors	ENST00000343625	ensembl	human	known	70_37	missense	SNP	1.000	T
RFC2	5982	genome.wustl.edu	37	7	73657531	73657531	+	Silent	SNP	G	G	A	rs143077432		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr7:73657531G>A	ENST00000055077.3	-	6	540	c.480C>T	c.(478-480)atC>atT	p.I160I	RFC2_ENST00000352131.3_Silent_p.I126I	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	160					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|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)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TTTTAGAGTAGATTTCCATGG	0.517																																																	0													217.0	182.0	194.0					7																	73657531		2203	4300	6503	SO:0001819	synonymous_variant	5982				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.480C>T	7.37:g.73657531G>A			B5BU07|D3DXG3|P32846|Q9BU93	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_Helicase_domain_viral-like,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.I160	ENST00000055077.3	37	c.480	CCDS5568.1	7																																																																																			RFC2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.517	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC2	HGNC	protein_coding	OTTHUMT00000252459.2	G	NM_181471		73657531	-1	no_errors	ENST00000055077	ensembl	human	known	70_37	silent	SNP	1.000	A
RHOT2	89941	genome.wustl.edu	37	16	721776	721776	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:721776G>A	ENST00000315082.4	+	12	1063	c.949G>A	c.(949-951)Gac>Aac	p.D317N		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	317	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D317N(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGAGAAGCACGACCAGGTGAG	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											80.0	77.0	78.0					16																	721776		2198	4297	6495	SO:0001583	missense	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.949G>A	16.37:g.721776G>A	ENSP00000321971:p.Asp317Asn		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	pirsf_Small_GTPase_Miro,pfam_EF_hand_assoc_2,pfam_MIRO-like,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,pfscan_EF_HAND_2	p.D317N	ENST00000315082.4	37	c.949	CCDS10417.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.129048	0.94473	.	.	ENSG00000140983	ENST00000315082	T	0.31247	1.5	5.26	5.26	0.73747	EF-hand-like domain (1);	0.044434	0.85682	D	0.000000	T	0.60805	0.2297	M	0.91406	3.205	0.80722	D	1	D	0.76494	0.999	P	0.58520	0.84	T	0.71758	-0.4496	10	0.87932	D	0	-3.3443	17.4344	0.87547	0.0:0.0:1.0:0.0	.	317	Q8IXI1	MIRO2_HUMAN	N	317	ENSP00000321971:D317N	ENSP00000321971:D317N	D	+	1	0	RHOT2	661777	1.000000	0.71417	0.997000	0.53966	0.790000	0.44656	9.267000	0.95665	2.466000	0.83321	0.561000	0.74099	GAC	RHOT2	-	pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2		0.672	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOT2	HGNC	protein_coding	OTTHUMT00000241617.1	G	NM_138769		721776	+1	no_errors	ENST00000315082	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78318498	78318498	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:78318498C>T	ENST00000582970.1	+	29	6506	c.6363C>T	c.(6361-6363)ttC>ttT	p.F2121F	RNF213_ENST00000508628.2_Silent_p.F2170F|RNF213_ENST00000336301.6_Silent_p.F194F	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2121					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TACCCCAGTTCAGTTTTCTTG	0.468																																																	0													184.0	179.0	181.0					17																	78318498		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6363C>T	17.37:g.78318498C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.F2121	ENST00000582970.1	37	c.6363	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78318498	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.382	T
RNF213	57674	genome.wustl.edu	37	17	78318661	78318661	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:78318661C>G	ENST00000582970.1	+	29	6669	c.6526C>G	c.(6526-6528)Caa>Gaa	p.Q2176E	RNF213_ENST00000508628.2_Missense_Mutation_p.Q2225E|RNF213_ENST00000336301.6_Missense_Mutation_p.Q249E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2176					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGATTCAATCAAAACCAAGA	0.493																																																	0													100.0	96.0	97.0					17																	78318661		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6526C>G	17.37:g.78318661C>G	ENSP00000464087:p.Gln2176Glu		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q2176E	ENST00000582970.1	37	c.6526	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644403	0.03531	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21734	1.99	5.57	2.34	0.29019	.	0.424073	0.22570	N	0.058350	T	0.14874	0.0359	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30851	-0.9964	10	0.13108	T	0.6	.	11.7141	0.51641	0.1857:0.3945:0.4198:0.0	.	249	Q63HN8	RN213_HUMAN	E	2176;2225;249	ENSP00000338218:Q249E	ENSP00000338218:Q249E	Q	+	1	0	RNF213	75933256	0.004000	0.15560	0.002000	0.10522	0.077000	0.17291	0.547000	0.23299	0.251000	0.21505	-0.176000	0.13171	CAA	RNF213	-	NULL		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78318661	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.001	G
RYR2	6262	genome.wustl.edu	37	1	237777446	237777446	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:237777446C>T	ENST00000366574.2	+	37	5335	c.5018C>T	c.(5017-5019)gCc>gTc	p.A1673V	RYR2_ENST00000542537.1_Missense_Mutation_p.A1657V|RYR2_ENST00000360064.6_Missense_Mutation_p.A1671V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1673	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCGGGTGGCCCATGCCCTG	0.532																																																	0													65.0	67.0	66.0					1																	237777446		2102	4221	6323	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5018C>T	1.37:g.237777446C>T	ENSP00000355533:p.Ala1673Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A1671V	ENST00000366574.2	37	c.5012	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664115	0.88251	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97994	-4.65;-4.62;-4.64	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000006	D	0.98927	0.9636	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99632	1.0986	10	0.87932	D	0	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1673	Q92736	RYR2_HUMAN	V	1673;1671;1657	ENSP00000355533:A1673V;ENSP00000353174:A1671V;ENSP00000443798:A1657V	ENSP00000353174:A1671V	A	+	2	0	RYR2	235844069	1.000000	0.71417	0.990000	0.47175	0.952000	0.60782	7.776000	0.85560	2.730000	0.93505	0.655000	0.94253	GCC	RYR2	-	NULL		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237777446	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T
SEC14L4	284904	genome.wustl.edu	37	22	30890922	30890922	+	Silent	SNP	C	C	G	rs199986939		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:30890922C>G	ENST00000255858.7	-	6	533	c.450G>C	c.(448-450)ctG>ctC	p.L150L	SEC14L4_ENST00000381982.3_Silent_p.L150L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Silent_p.L135L|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.L96L	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	150	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CAAACACCATCAGCGCCATCT	0.592																																																	0													145.0	115.0	125.0					22																	30890922		2203	4300	6503	SO:0001819	synonymous_variant	284904			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.450G>C	22.37:g.30890922C>G			A5D6W7|A6NCV4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L150	ENST00000255858.7	37	c.450	CCDS13878.1	22																																																																																			SEC14L4	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	C	NM_174977		30890922	-1	no_errors	ENST00000255858	ensembl	human	known	70_37	silent	SNP	0.974	G
SEMA5A	9037	genome.wustl.edu	37	5	9122803	9122803	+	Silent	SNP	G	G	A	rs376581828		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:9122803G>A	ENST00000382496.5	-	14	2411	c.1746C>T	c.(1744-1746)tgC>tgT	p.C582C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	582	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGGGCCCTCGCACTGCCAGC	0.627																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	41.0	45.0	44.0		1746	-5.1	0.0	5		44	0,8600		0,0,4300	no	coding-synonymous	SEMA5A	NM_003966.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		582/1075	9122803	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1746C>T	5.37:g.9122803G>A			D3DTC6|O60408|Q1RLL9	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.C582	ENST00000382496.5	37	c.1746	CCDS3875.1	5																																																																																			SEMA5A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.627	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	G			9122803	-1	no_errors	ENST00000382496	ensembl	human	known	70_37	silent	SNP	0.023	A
HYPK	25764	genome.wustl.edu	37	15	44092974	44092974	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:44092974C>T	ENST00000406925.1	+	2	4289	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	SERINC4_ENST00000319327.6_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank|SERF2_ENST00000600633.1_Silent_p.L60L|SERINC4_ENST00000249714.3_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000442995.2_Silent_p.L60L|SERF2_ENST00000594896.1_Silent_p.L106L|HYPK_ENST00000458412.1_Silent_p.L60L|HYPK_ENST00000498605.1_3'UTR			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	60						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GAGTTCCAATCTGGAGACGGT	0.622																																																	0													23.0	23.0	23.0					15																	44092974		2197	4298	6495	SO:0001819	synonymous_variant	10169			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.178C>T	15.37:g.44092974C>T			C9JKJ0|O75408|Q8WUW8|Q9P024	Silent	SNP	NULL	p.L106	ENST00000406925.1	37	c.316	CCDS10104.1	15																																																																																			SERF2	-	NULL		0.622	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133876.3	C	NM_016400		44092974	+1	no_errors	ENST00000594896	ensembl	human	known	70_37	silent	SNP	0.532	T
SGPL1	8879	genome.wustl.edu	37	10	72637064	72637064	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr10:72637064A>G	ENST00000373202.3	+	15	1879	c.1679A>G	c.(1678-1680)cAg>cGg	p.Q560R		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	560					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						CAGGGCAGCCAGATGAATGGT	0.517																																					Colon(151;1054 2458 6676 40971)												0													112.0	99.0	104.0					10																	72637064		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1679A>G	10.37:g.72637064A>G	ENSP00000362298:p.Gln560Arg		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.Q560R	ENST00000373202.3	37	c.1679	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942273	0.53079	.	.	ENSG00000166224	ENST00000373202	T	0.42900	0.96	5.73	4.55	0.56014	.	0.275476	0.44483	D	0.000452	T	0.33352	0.0860	L	0.47716	1.5	0.35143	D	0.769003	B	0.32731	0.382	B	0.24006	0.05	T	0.48043	-0.9069	10	0.35671	T	0.21	-19.9919	13.0241	0.58804	0.8658:0.1342:0.0:0.0	.	560	O95470	SGPL1_HUMAN	R	560	ENSP00000362298:Q560R	ENSP00000362298:Q560R	Q	+	2	0	SGPL1	72307070	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.573000	0.67417	2.190000	0.69967	0.528000	0.53228	CAG	SGPL1	-	NULL		0.517	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	A	NM_003901		72637064	+1	no_errors	ENST00000373202	ensembl	human	known	70_37	missense	SNP	1.000	G
SH2D4A	63898	genome.wustl.edu	37	8	19250842	19250842	+	Silent	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr8:19250842C>G	ENST00000265807.3	+	9	1473	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L	SH2D4A_ENST00000518040.1_Silent_p.L309L|SH2D4A_ENST00000519207.1_Silent_p.L354L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	354	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TTCTCACACTCAAGAAAGCAA	0.453																																																	0													110.0	110.0	110.0					8																	19250842		2203	4300	6503	SO:0001819	synonymous_variant	63898			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1062C>G	8.37:g.19250842C>G			B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.L354	ENST00000265807.3	37	c.1062	CCDS6009.1	8																																																																																			SH2D4A	-	pfam_SH2,smart_SH2,pfscan_SH2		0.453	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D4A	HGNC	protein_coding	OTTHUMT00000214094.1	C	NM_022071		19250842	+1	no_errors	ENST00000265807	ensembl	human	known	70_37	silent	SNP	0.015	G
SIGLEC16	400709	genome.wustl.edu	37	19	50475333	50475333	+	RNA	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:50475333C>T	ENST00000602139.1	+	0	1279							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						GCTCCCAGCGCGTCTCTCTCA	0.667																																																	0																																												400709			BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475333C>T				RNA	SNP	-	NULL	ENST00000602139.1	37	NULL		19																																																																																			SIGLEC16	-	-		0.667	SIGLEC16-001	KNOWN	basic	processed_transcript	SIGLEC16	HGNC	pseudogene	OTTHUMT00000464979.1	C	NR_002825		50475333	+1	no_errors	ENST00000602139	ensembl	human	known	70_37	rna	SNP	0.000	T
SIRPD	128646	genome.wustl.edu	37	20	1532442	1532442	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr20:1532442C>T	ENST00000381623.3	-	2	1505	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E106K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	106	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGAGAGATTTCACGGATGCGG	0.448																																																	0													152.0	149.0	150.0					20																	1532442		2203	4300	6503	SO:0001583	missense	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.316G>A	20.37:g.1532442C>T	ENSP00000371036:p.Glu106Lys		B3KS88|Q5TFQ6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E106K	ENST00000381623.3	37	c.316	CCDS13018.1	20	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827715	0.32329	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.63744	-0.06;-0.06	4.03	-0.163	0.13363	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047140	0.07611	N	0.925406	T	0.43678	0.1258	N	0.16233	0.39	0.09310	N	1	B	0.21520	0.057	B	0.23018	0.043	T	0.37709	-0.9694	10	0.54805	T	0.06	.	6.077	0.19921	0.0:0.5241:0.0:0.4759	.	106	Q9H106	SIRPD_HUMAN	K	106	ENSP00000371036:E106K;ENSP00000371034:E106K	ENSP00000371034:E106K	E	-	1	0	SIRPD	1480442	0.002000	0.14202	0.003000	0.11579	0.014000	0.08584	-0.818000	0.04467	0.124000	0.18369	0.558000	0.71614	GAA	SIRPD	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.448	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPD	HGNC	protein_coding	OTTHUMT00000077552.1	C	NM_178460		1532442	-1	no_errors	ENST00000381621	ensembl	human	known	70_37	missense	SNP	0.003	T
SLC19A1	6573	genome.wustl.edu	37	21	46951916	46951918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr21:46951916_46951918delCAG	ENST00000311124.4	-	3	486_488	c.334_336delCTG	c.(334-336)ctgdel	p.L112del	SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	112					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCGAGTGGCCCAGCAGCAGCAGC	0.645																																																	0									,,	149,4097		7,135,1981					,,	4.9	0.2			27	310,7916		6,298,3809	no	coding,coding,coding	SLC19A1	NM_194255.2,NM_001205207.1,NM_001205206.1	,,	13,433,5790	A1A1,A1R,RR		3.7685,3.5092,3.6802	,,	,,		459,12013				SO:0001651	inframe_deletion	6573			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.334_336delCTG	21.37:g.46951925_46951927delCAG	ENSP00000308895:p.Leu112del		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	In_Frame_Del	DEL	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.L112in_frame_del	ENST00000311124.4	37	c.336_334	CCDS13725.1	21																																																																																			SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.645	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	CAG			46951918	-1	no_errors	ENST00000311124	ensembl	human	known	70_37	in_frame_del	DEL	0.002:0.005:0.002	-
SLC25A3	5250	genome.wustl.edu	37	12	98995213	98995213	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:98995213C>G	ENST00000228318.3	+	8	1116	c.996C>G	c.(994-996)atC>atG	p.I332M	SLC25A3_ENST00000548847.1_Missense_Mutation_p.I294M|SLC25A3_ENST00000549338.1_Missense_Mutation_p.I331M|SLC25A3_ENST00000551917.1_Missense_Mutation_p.I332M|SLC25A3_ENST00000188376.5_Missense_Mutation_p.I331M|SLC25A3_ENST00000401722.3_Missense_Mutation_p.I331M|SLC25A3_ENST00000552981.1_Missense_Mutation_p.I331M|SNORA53_ENST00000391141.1_RNA	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	332					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AGTGGTTTATCTATGACTCCG	0.458																																																	0													163.0	155.0	158.0					12																	98995213		2203	4300	6503	SO:0001583	missense	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.996C>G	12.37:g.98995213C>G	ENSP00000228318:p.Ile332Met		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.I332M	ENST00000228318.3	37	c.996	CCDS9066.1	12	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675729	0.88445	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.991;0.999	D;D;D;D	0.77557	0.99;0.989;0.925;0.981	T	0.68565	-0.5375	10	0.72032	D	0.01	-26.7087	19.7153	0.96115	0.0:1.0:0.0:0.0	.	294;331;332;331	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	M	331;331;332;332;331;331;294	ENSP00000383898:I331M;ENSP00000188376:I331M;ENSP00000228318:I332M;ENSP00000447310:I332M;ENSP00000448708:I331M;ENSP00000447740:I331M;ENSP00000449166:I294M	ENSP00000188376:I331M	I	+	3	3	SLC25A3	97519344	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.554000	0.67294	2.731000	0.93534	0.655000	0.94253	ATC	SLC25A3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.458	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	HGNC	protein_coding	OTTHUMT00000407989.1	C	NM_005888		98995213	+1	no_errors	ENST00000228318	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC25A3	5250	genome.wustl.edu	37	12	98995275	98995275	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr12:98995275C>G	ENST00000228318.3	+	8	1178	c.1058C>G	c.(1057-1059)tCt>tGt	p.S353C	SLC25A3_ENST00000548847.1_Missense_Mutation_p.S315C|SLC25A3_ENST00000549338.1_Missense_Mutation_p.S352C|SLC25A3_ENST00000551917.1_Missense_Mutation_p.S353C|SLC25A3_ENST00000188376.5_Missense_Mutation_p.S352C|SLC25A3_ENST00000401722.3_Missense_Mutation_p.S352C|SLC25A3_ENST00000552981.1_Missense_Mutation_p.S352C|SNORA53_ENST00000391141.1_RNA	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	353					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ATGCCAGAGTCTCTGAAGAAG	0.448																																																	0													94.0	90.0	92.0					12																	98995275		2203	4300	6503	SO:0001583	missense	5250				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.1058C>G	12.37:g.98995275C>G	ENSP00000228318:p.Ser353Cys		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S353C	ENST00000228318.3	37	c.1058	CCDS9066.1	12	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868716	0.91587	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.81914	0.995;0.981;0.99;0.995	T	0.73795	-0.3870	10	0.87932	D	0	-30.7206	19.7153	0.96115	0.0:1.0:0.0:0.0	.	315;352;353;352	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	C	352;352;353;353;352;352;315	ENSP00000383898:S352C;ENSP00000188376:S352C;ENSP00000228318:S353C;ENSP00000447310:S353C;ENSP00000448708:S352C;ENSP00000447740:S352C;ENSP00000449166:S315C	ENSP00000188376:S352C	S	+	2	0	SLC25A3	97519406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.251000	0.78297	2.731000	0.93534	0.655000	0.94253	TCT	SLC25A3	-	NULL		0.448	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A3	HGNC	protein_coding	OTTHUMT00000407989.1	C	NM_005888		98995275	+1	no_errors	ENST00000228318	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC37A2	219855	genome.wustl.edu	37	11	124955860	124955860	+	Missense_Mutation	SNP	G	G	A	rs201149895		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:124955860G>A	ENST00000403796.2	+	17	1737	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	SLC37A2_ENST00000407458.1_Missense_Mutation_p.R479Q|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.R479Q	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	479					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTCCTTTGCCGGTTAGTATAC	0.592																																					Melanoma(11;373 620 21213 26083 47768)												0													114.0	93.0	100.0					11																	124955860		2201	4299	6500	SO:0001583	missense	219855			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1436G>A	11.37:g.124955860G>A	ENSP00000384407:p.Arg479Gln		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R479Q	ENST00000403796.2	37	c.1436	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692253	0.88735	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.59638	0.25;0.25;0.25	5.01	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.72982	0.952;0.979;0.928	T	0.74057	-0.3787	10	0.40728	T	0.16	-28.7677	15.634	0.76937	0.0:0.0:1.0:0.0	.	104;479;479	B7Z480;Q8TED4-2;Q8TED4	.;.;SPX2_HUMAN	Q	479	ENSP00000384407:R479Q;ENSP00000385126:R479Q;ENSP00000311833:R479Q	ENSP00000311833:R479Q	R	+	2	0	SLC37A2	124461070	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	5.931000	0.70113	2.606000	0.88127	0.655000	0.94253	CGG	SLC37A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.592	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	G	XM_166184		124955860	+1	no_errors	ENST00000308074	ensembl	human	known	70_37	missense	SNP	0.996	A
SMEK2	57223	genome.wustl.edu	37	2	55842570	55842570	+	Intron	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:55842570G>C	ENST00000345102.5	-	2	500				SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000407823.3_Intron|SMEK2_ENST00000272313.5_Intron|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAAATTAAAGATAAACAACT	0.308																																																	0													81.0	84.0	83.0					2																	55842570		2201	4299	6500	SO:0001627	intron_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.198+16C>G	2.37:g.55842570G>C			Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	RNA	SNP	-	NULL	ENST00000345102.5	37	NULL	CCDS46289.1	2																																																																																			SMEK2	-	-		0.308	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	G	NM_020463		55842570	-1	no_errors	ENST00000477749	ensembl	human	known	70_37	rna	SNP	0.998	C
SOBP	55084	genome.wustl.edu	37	6	107908338	107908338	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:107908338G>A	ENST00000317357.5	+	5	1287	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTATGCTAAGGAAACTCCAAG	0.378																																																	0													164.0	154.0	157.0					6																	107908338		1856	4094	5950	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.628G>A	6.37:g.107908338G>A	ENSP00000318900:p.Glu210Lys			Missense_Mutation	SNP	NULL	p.E210K	ENST00000317357.5	37	c.628	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155819	0.78114	.	.	ENSG00000112320	ENST00000317357	T	0.14893	2.47	5.86	5.86	0.93980	.	0.068453	0.56097	D	0.000026	T	0.20941	0.0504	L	0.29908	0.895	0.58432	D	0.999998	D	0.63880	0.993	P	0.58520	0.84	T	0.01118	-1.1446	10	0.72032	D	0.01	-8.2874	20.2019	0.98263	0.0:0.0:1.0:0.0	.	210	A7XYQ1	SOBP_HUMAN	K	210	ENSP00000318900:E210K	ENSP00000318900:E210K	E	+	1	0	SOBP	108015031	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.601000	0.90864	2.776000	0.95493	0.655000	0.94253	GAA	SOBP	-	NULL		0.378	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	G	NM_018013		107908338	+1	no_errors	ENST00000317357	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN15	6650	genome.wustl.edu	37	16	602965	602965	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:602965G>A	ENST00000219611.2	+	13	3370	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1003					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CGTGCAGTGTGACTGCACCGA	0.672																																																	0													85.0	77.0	80.0					16																	602965		2200	4298	6498	SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3007G>A	16.37:g.602965G>A	ENSP00000219611:p.Asp1003Asn		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D1003N	ENST00000219611.2	37	c.3007	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	21.7	4.188729	0.78789	.	.	ENSG00000103326	ENST00000219611	D	0.93604	-3.25	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95785	0.8820	10	0.59425	D	0.04	.	17.7416	0.88408	0.0:0.0:1.0:0.0	.	1003	O75808	CAN15_HUMAN	N	1003	ENSP00000219611:D1003N	ENSP00000219611:D1003N	D	+	1	0	SOLH	542966	1.000000	0.71417	0.988000	0.46212	0.854000	0.48673	9.360000	0.97119	2.605000	0.88082	0.506000	0.49869	GAC	SOLH	-	NULL		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	G	NM_005632		602965	+1	no_errors	ENST00000219611	ensembl	human	known	70_37	missense	SNP	1.000	A
SP3	6670	genome.wustl.edu	37	2	174774691	174774691	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:174774691G>A	ENST00000310015.6	-	7	2854	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	SP3_ENST00000418194.2_Missense_Mutation_p.S707F|SP3_ENST00000455789.2_Missense_Mutation_p.S722F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	775					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTCATTTCCAGAAACTGTGAC	0.343																																																	0													89.0	86.0	87.0					2																	174774691		2203	4300	6503	SO:0001583	missense	6670			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2324C>T	2.37:g.174774691G>A	ENSP00000310301:p.Ser775Phe		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S775F	ENST00000310015.6	37	c.2324	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068545	0.55539	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.06294	3.32;3.32;3.32	5.58	5.58	0.84498	.	0.122567	0.56097	D	0.000024	T	0.18593	0.0446	L	0.39898	1.24	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.64877	0.915;0.915;0.93	T	0.00152	-1.1984	10	0.87932	D	0	.	19.5758	0.95444	0.0:0.0:1.0:0.0	.	772;775;722	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	F	775;722;707	ENSP00000310301:S775F;ENSP00000388903:S722F;ENSP00000406140:S707F	ENSP00000310301:S775F	S	-	2	0	SP3	174482937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.632000	0.89209	0.655000	0.94253	TCT	SP3	-	NULL		0.343	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	G	NM_003111		174774691	-1	no_errors	ENST00000310015	ensembl	human	known	70_37	missense	SNP	1.000	A
SPEG	10290	genome.wustl.edu	37	2	220354509	220354509	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:220354509G>T	ENST00000312358.7	+	36	8901	c.8769G>T	c.(8767-8769)gaG>gaT	p.E2923D	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2923	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCCTGAGCCTACCAAGG	0.627																																																	0													43.0	45.0	45.0					2																	220354509		1851	4081	5932	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8769G>T	2.37:g.220354509G>T	ENSP00000311684:p.Glu2923Asp		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2923D	ENST00000312358.7	37	c.8769	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594544	0.13875	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.63744	-0.06	4.34	2.44	0.29823	.	0.488658	0.16498	N	0.211820	T	0.37237	0.0996	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21827	-1.0234	10	0.52906	T	0.07	.	5.9779	0.19391	0.1122:0.2619:0.626:0.0	.	2923	Q15772	SPEG_HUMAN	D	2923	ENSP00000311684:E2923D	ENSP00000265327:E2923D	E	+	3	2	SPEG	220062753	0.951000	0.32395	1.000000	0.80357	0.225000	0.24961	1.146000	0.31589	1.068000	0.40764	-0.381000	0.06696	GAG	SPEG	-	NULL		0.627	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220354509	+1	no_errors	ENST00000312358	ensembl	human	novel	70_37	missense	SNP	0.995	T
SSX5	6758	genome.wustl.edu	37	X	48047122	48047122	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:48047122C>A	ENST00000376923.1	-	6	511	c.512G>T	c.(511-513)aGa>aTa	p.R171I	SSX5_ENST00000311798.1_Missense_Mutation_p.R212I|SSX5_ENST00000347757.1_Missense_Mutation_p.R171I			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CAGTTGCTTTCTCTCACGCAC	0.502																																																	0													329.0	281.0	298.0					X																	48047122		2203	4299	6502	SO:0001583	missense	6758			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.512G>T	X.37:g.48047122C>A	ENSP00000366122:p.Arg171Ile		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R212I	ENST00000376923.1	37	c.635	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	N	12.79	2.043562	0.36085	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.45276	2.47;2.4;2.4;0.9	1.56	1.56	0.23342	SSXRD motif (1);	0.435447	0.19576	N	0.110967	T	0.54224	0.1845	L	0.61218	1.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	T	0.31194	-0.9952	10	0.87932	D	0	.	6.0734	0.19901	0.0:1.0:0.0:0.0	.	171;212	O60225;O60225-2	SSX5_HUMAN;.	I	212;171;171;111	ENSP00000312415:R212I;ENSP00000366122:R171I;ENSP00000290558:R171I;ENSP00000385051:R111I	ENSP00000312415:R212I	R	-	2	0	SSX5	47932066	0.085000	0.21516	0.003000	0.11579	0.073000	0.16967	1.074000	0.30703	1.081000	0.41110	0.181000	0.17075	AGA	SSX5	-	pfam_SSXRD_motif		0.502	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	C	NM_021015		48047122	-1	no_errors	ENST00000311798	ensembl	human	known	70_37	missense	SNP	0.003	A
STAMBP	10617	genome.wustl.edu	37	2	74077619	74077619	+	Silent	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:74077619C>T	ENST00000394070.2	+	7	1487	c.984C>T	c.(982-984)ctC>ctT	p.L328L	STAMBP_ENST00000394073.1_Silent_p.L328L|STAMBP_ENST00000409707.1_Silent_p.L328L|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Silent_p.L328L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	328	MPN.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AGCAGGGCCTCATCACACTGG	0.463																																																	0													115.0	100.0	105.0					2																	74077619		2203	4300	6503	SO:0001819	synonymous_variant	10617			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.984C>T	2.37:g.74077619C>T			B5M0B6|D6W5H7|Q3MJE7	Silent	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.L328	ENST00000394070.2	37	c.984	CCDS1929.1	2																																																																																			STAMBP	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.463	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	C	NM_006463		74077619	+1	no_errors	ENST00000339566	ensembl	human	known	70_37	silent	SNP	1.000	T
STXBP4	252983	genome.wustl.edu	37	17	53077096	53077096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr17:53077096G>T	ENST00000376352.2	+	6	598	c.391G>T	c.(391-393)Gga>Tga	p.G131*	STXBP4_ENST00000405898.1_Nonsense_Mutation_p.G131*|STXBP4_ENST00000398391.2_Nonsense_Mutation_p.G56*|STXBP4_ENST00000299341.4_Nonsense_Mutation_p.G56*|STXBP4_ENST00000434978.2_Nonsense_Mutation_p.G131*	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	131					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGGAGAATATGGACCTCAAGC	0.373																																																	0													91.0	86.0	88.0					17																	53077096		2203	4300	6503	SO:0001587	stop_gained	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.391G>T	17.37:g.53077096G>T	ENSP00000365530:p.Gly131*		Q8IVZ5	Nonsense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.G131*	ENST00000376352.2	37	c.391	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	37	6.160236	0.97334	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	.	.	.	5.17	3.2	0.36748	.	0.536026	0.20312	N	0.094815	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.654	9.4813	0.38902	0.1626:0.0:0.8374:0.0	.	.	.	.	X	131;56;131;131;56	.	ENSP00000299341:G56X	G	+	1	0	STXBP4	50432095	0.099000	0.21834	0.221000	0.23827	0.667000	0.39255	1.701000	0.37825	0.765000	0.33221	-0.137000	0.14449	GGA	STXBP4	-	NULL		0.373	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53077096	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	nonsense	SNP	0.003	T
STXBP6	29091	genome.wustl.edu	37	14	25326285	25326285	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:25326285G>A	ENST00000323944.5	-	3	684	c.233C>T	c.(232-234)tCa>tTa	p.S78L	STXBP6_ENST00000548724.1_Missense_Mutation_p.S78L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S78L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S78L|STXBP6_ENST00000546511.1_Missense_Mutation_p.S78L|STXBP6_ENST00000396700.1_Missense_Mutation_p.S78L|STXBP6_ENST00000419632.2_Missense_Mutation_p.S78L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	78					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CATCCACTGTGATCTCCGAAC	0.463																																																	0													234.0	207.0	216.0					14																	25326285		2203	4300	6503	SO:0001583	missense	29091			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.233C>T	14.37:g.25326285G>A	ENSP00000324302:p.Ser78Leu		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin	p.S78L	ENST00000323944.5	37	c.233	CCDS9634.1	14	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862587	0.71949	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.84	5.84	0.93424	.	0.198268	0.45126	D	0.000395	T	0.59376	0.2189	L	0.60455	1.87	0.80722	D	1	B	0.34103	0.437	B	0.31495	0.131	T	0.56890	-0.7904	9	0.30854	T	0.27	-21.225	17.6318	0.88111	0.0:0.0:1.0:0.0	.	78	Q8NFX7	STXB6_HUMAN	L	78	.	ENSP00000324302:S78L	S	-	2	0	STXBP6	24396125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.777000	0.99008	2.779000	0.95612	0.655000	0.94253	TCA	STXBP6	-	NULL		0.463	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STXBP6	HGNC	protein_coding	OTTHUMT00000409166.1	G			25326285	-1	no_errors	ENST00000323944	ensembl	human	known	70_37	missense	SNP	1.000	A
TARSL2	123283	genome.wustl.edu	37	15	102244135	102244135	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr15:102244135C>T	ENST00000335968.3	-	8	1217	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	334					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATTAATGGACCGCACCTATA	0.333																																																	0													83.0	80.0	81.0					15																	102244135		2203	4300	6503	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1001G>A	15.37:g.102244135C>T	ENSP00000338093:p.Gly334Asp		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.G334D	ENST00000335968.3	37	c.1001	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229586	0.79688	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.98	4.98	0.66077	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88078	0.2805	9	0.72032	D	0.01	-19.469	15.7623	0.78096	0.0:1.0:0.0:0.0	.	334	A2RTX5	SYTC2_HUMAN	D	334;239;334	.	ENSP00000329291:G239D	G	-	2	0	TARSL2	100061658	1.000000	0.71417	0.992000	0.48379	0.785000	0.44390	7.603000	0.82811	2.313000	0.78055	0.467000	0.42956	GGT	TARSL2	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa		0.333	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	C	NM_152334		102244135	-1	no_errors	ENST00000335968	ensembl	human	known	70_37	missense	SNP	1.000	T
TCTE1	202500	genome.wustl.edu	37	6	44254102	44254102	+	Missense_Mutation	SNP	C	C	T	rs149566851		TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:44254102C>T	ENST00000371505.4	-	3	567	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	149										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCTGCCGCCATGGTGG	0.612																																																	0													69.0	62.0	64.0					6																	44254102		2203	4300	6503	SO:0001583	missense	202500			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.445G>A	6.37:g.44254102C>T	ENSP00000360560:p.Gly149Ser		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G149S	ENST00000371505.4	37	c.445	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172677	0.38413	.	.	ENSG00000146221	ENST00000371505	T	0.53857	0.6	4.95	0.751	0.18392	.	0.494509	0.24332	N	0.039444	T	0.22666	0.0547	M	0.66939	2.045	0.31913	N	0.614463	B	0.29508	0.246	B	0.15484	0.013	T	0.02698	-1.1122	10	0.42905	T	0.14	-22.0618	3.2087	0.06675	0.1282:0.533:0.1253:0.2135	.	149	Q5JU00	TCTE1_HUMAN	S	149	ENSP00000360560:G149S	ENSP00000360560:G149S	G	-	1	0	TCTE1	44362080	0.194000	0.23325	0.977000	0.42913	0.826000	0.46750	1.144000	0.31565	1.073000	0.40885	0.563000	0.77884	GGC	TCTE1	-	NULL		0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	C	NM_182539		44254102	-1	no_errors	ENST00000371505	ensembl	human	known	70_37	missense	SNP	0.236	T
TENM4	26011	genome.wustl.edu	37	11	78381424	78381424	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:78381424A>G	ENST00000278550.7	-	32	6428	c.5966T>C	c.(5965-5967)aTa>aCa	p.I1989T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1989					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GAAGTCCTGTATGACTGAGGC	0.557																																																	0													60.0	60.0	60.0					11																	78381424		2007	4152	6159	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5966T>C	11.37:g.78381424A>G	ENSP00000278550:p.Ile1989Thr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.I1989T	ENST00000278550.7	37	c.5966	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009512	0.35415	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89939	-2.59;0.91	4.93	4.93	0.64822	.	0.056792	0.64402	D	0.000003	D	0.84288	0.5439	L	0.43152	1.355	0.46901	D	0.999248	B	0.26672	0.156	B	0.23852	0.049	T	0.80815	-0.1214	9	.	.	.	.	15.0385	0.71767	1.0:0.0:0.0:0.0	.	1989	Q6N022	TEN4_HUMAN	T	1989;453	ENSP00000278550:I1989T;ENSP00000431711:I453T	.	I	-	2	0	ODZ4	78059072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.194000	0.70268	0.533000	0.62120	ATA	TENM4	-	NULL		0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	A			78381424	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	missense	SNP	1.000	G
TFAP2A	7020	genome.wustl.edu	37	6	10404765	10404765	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr6:10404765G>A	ENST00000482890.1	-	5	1092	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TFAP2A_ENST00000379613.3_Missense_Mutation_p.S249L|TFAP2A_ENST00000319516.4_Missense_Mutation_p.S243L|TFAP2A_ENST00000379604.2_Missense_Mutation_p.S247L|TFAP2A_ENST00000379608.3_Missense_Mutation_p.S241L|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	247					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCCAGCAGCGACGCGTTGAG	0.746																																																	0													20.0	18.0	19.0					6																	10404765		2203	4299	6502	SO:0001583	missense	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.740C>T	6.37:g.10404765G>A	ENSP00000418541:p.Ser247Leu		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.S247L	ENST00000482890.1	37	c.740	CCDS4510.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.154078|6.154078	0.97329|0.97329	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000475264|ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450	.|D;D;D;D;D;D;D	.|0.98792	.|-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Transcription factor AP-2, C-terminal (1);	.|0.111043	.|0.64402	.|D	.|0.000005	D|D	0.99414|0.99414	0.9793|0.9793	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	.|P;D;P;P;P	.|0.76494	.|0.931;0.999;0.824;0.824;0.882	.|B;D;B;B;B	.|0.79784	.|0.307;0.993;0.202;0.202;0.418	D|D	0.98808|0.98808	1.0742|1.0742	5|10	.|0.87932	.|D	.|0	-5.8201|-5.8201	18.9331|18.9331	0.92574|0.92574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|247;249;243;247;241	.|C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6	.|.;.;.;AP2A_HUMAN;.	C|L	152|249;247;243;241;247;247;104	.|ENSP00000368933:S249L;ENSP00000368924:S247L;ENSP00000316516:S243L;ENSP00000368928:S241L;ENSP00000418541:S247L;ENSP00000417495:S247L;ENSP00000419961:S104L	.|ENSP00000316516:S243L	R|S	-|-	1|2	0|0	TFAP2A|TFAP2A	10512751|10512751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.391000|9.391000	0.97249|0.97249	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CGC|TCG	TFAP2A	-	pfam_TF_AP2_C		0.746	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	G	NM_003220		10404765	-1	no_errors	ENST00000379604	ensembl	human	known	70_37	missense	SNP	1.000	A
TINF2	26277	genome.wustl.edu	37	14	24711514	24711514	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:24711514G>A	ENST00000267415.7	-	1	366	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	TINF2_ENST00000558566.1_Missense_Mutation_p.P9S|TINF2_ENST00000559019.1_Missense_Mutation_p.P9S|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.P9S|TINF2_ENST00000399423.4_Missense_Mutation_p.P9S|TINF2_ENST00000538777.1_5'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	9					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGAGCTGCGGGACCCGCCACC	0.677									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	17.0	16.0					14																	24711514		1817	3995	5812	SO:0001583	missense	26277	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.25C>T	14.37:g.24711514G>A	ENSP00000267415:p.Pro9Ser	773	B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	NULL	p.P9S	ENST00000267415.7	37	c.25	CCDS41936.1	14	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733943	0.30684	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423	D;D;D	0.87412	-2.24;-2.12;-2.25	5.41	2.44	0.29823	.	0.570670	0.17222	N	0.182310	T	0.77837	0.4190	L	0.29908	0.895	0.35098	D	0.764975	P;B;P	0.36392	0.551;0.035;0.551	B;B;B	0.38842	0.283;0.025;0.189	T	0.78008	-0.2372	10	0.66056	D	0.02	-8.4276	3.3735	0.07229	0.0934:0.1847:0.553:0.1688	.	9;9;9	B4DFJ1;Q9BSI4-2;Q9BSI4	.;.;TINF2_HUMAN	S	9	ENSP00000267415:P9S;ENSP00000442154:P9S;ENSP00000382350:P9S	ENSP00000267415:P9S	P	-	1	0	TINF2	23781354	0.111000	0.22076	0.090000	0.20809	0.260000	0.26232	0.431000	0.21444	0.834000	0.34852	0.561000	0.74099	CCC	TINF2	-	NULL		0.677	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINF2	HGNC	protein_coding	OTTHUMT00000415406.2	G			24711514	-1	no_errors	ENST00000267415	ensembl	human	known	70_37	missense	SNP	0.017	A
TMEM55A	55529	genome.wustl.edu	37	8	92020971	92020972	+	Splice_Site	INS	-	-	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr8:92020971_92020972insT	ENST00000285419.3	-	5	852_853	c.538_539insA	c.(538-540)atc>aAtc	p.I180fs		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	180						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCAG	0.317																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001630	splice_region_variant	55529			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.539+1->A	8.37:g.92020978_92020978dupT			B2R9H4|Q68CU2	Frame_Shift_Ins	INS	pfam_Transmembrane_protein_55A/B	p.I180fs	ENST00000285419.3	37	c.539_538	CCDS6252.1	8																																																																																			TMEM55A	-	pfam_Transmembrane_protein_55A/B		0.317	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	-	NM_018710	Frame_Shift_Ins	92020972	-1	no_errors	ENST00000285419	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
TRPC7	57113	genome.wustl.edu	37	5	135692672	135692672	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr5:135692672T>C	ENST00000513104.1	-	2	686	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	TRPC7_ENST00000426057.2_Missense_Mutation_p.Q135R|TRPC7_ENST00000355180.3_Missense_Mutation_p.Q135R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	135					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTCAGGCGCTGGCCCTGCGC	0.672																																																	0													62.0	70.0	67.0					5																	135692672		2203	4300	6503	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.404A>G	5.37:g.135692672T>C	ENSP00000426070:p.Gln135Arg		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.Q135R	ENST00000513104.1	37	c.404	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634171	0.29068	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.77620	-0.94;-1.11;-1.02	5.14	3.98	0.46160	Ankyrin repeat-containing domain (2);	0.185457	0.49916	D	0.000122	T	0.62048	0.2396	N	0.21373	0.66	0.22541	N	0.999008	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.12837	0.001;0.007;0.004;0.008	T	0.43861	-0.9365	10	0.17369	T	0.5	-13.1486	10.7335	0.46111	0.0:0.0742:0.0:0.9258	.	135;135;135;135	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	R	135	ENSP00000347312:Q135R;ENSP00000441628:Q135R;ENSP00000426070:Q135R	ENSP00000265193:Q135R	Q	-	2	0	TRPC7	135720571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.886000	0.63149	0.982000	0.38575	0.459000	0.35465	CAG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	T	NM_020389		135692672	-1	no_errors	ENST00000513104	ensembl	human	known	70_37	missense	SNP	1.000	C
TRPM6	140803	genome.wustl.edu	37	9	77353418	77353418	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:77353418A>T	ENST00000360774.1	-	36	5918	c.5681T>A	c.(5680-5682)aTc>aAc	p.I1894N	TRPM6_ENST00000361255.3_Missense_Mutation_p.I1889N|TRPM6_ENST00000449912.2_Missense_Mutation_p.I1889N|TRPM6_ENST00000451710.3_Missense_Mutation_p.I1898N|TRPM6_ENST00000376871.3_Missense_Mutation_p.I731N|TRPM6_ENST00000376872.3_Missense_Mutation_p.I849N|TRPM6_ENST00000376864.4_Missense_Mutation_p.I1898N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1894	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGTGGGGGTGATTTCATCACC	0.468																																																	0													162.0	145.0	151.0					9																	77353418		2203	4300	6503	SO:0001583	missense	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5681T>A	9.37:g.77353418A>T	ENSP00000354006:p.Ile1894Asn		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.I1898N	ENST00000360774.1	37	c.5693	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122585	0.77436	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38;3.38	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.092689	0.64402	D	0.000001	T	0.16257	0.0391	L	0.31845	0.965	0.51767	D	0.99993	B;P;D;D;D;D	0.76494	0.356;0.921;0.961;0.999;0.993;0.997	B;P;P;D;P;D	0.67900	0.038;0.583;0.707;0.954;0.881;0.922	T	0.00759	-1.1578	10	0.56958	D	0.05	.	16.3947	0.83586	1.0:0.0:0.0:0.0	.	441;727;845;1894;1889;1889	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	N	1894;1898;849;731;1889;1889;440;1898	ENSP00000354006:I1894N;ENSP00000407341:I1898N;ENSP00000366068:I849N;ENSP00000366067:I731N;ENSP00000396672:I1889N;ENSP00000354962:I1889N;ENSP00000366060:I1898N	ENSP00000354006:I1894N	I	-	2	0	TRPM6	76543238	1.000000	0.71417	0.910000	0.35882	0.868000	0.49771	7.074000	0.76791	2.272000	0.75746	0.459000	0.35465	ATC	TRPM6	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	A	NM_017662		77353418	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	missense	SNP	0.996	T
TTLL1	25809	genome.wustl.edu	37	22	43464472	43464472	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:43464472G>C	ENST00000266254.7	-	5	687	c.447C>G	c.(445-447)ttC>ttG	p.F149L	TTLL1_ENST00000331018.7_Missense_Mutation_p.F149L	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	149	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTTGATAAGGAAGATGCCCT	0.547																																																	0													217.0	206.0	210.0					22																	43464472		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.447C>G	22.37:g.43464472G>C	ENSP00000266254:p.Phe149Leu		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.F149L	ENST00000266254.7	37	c.447	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.247826|4.247826	0.80024|0.80024	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.08282|.	3.11;3.11|.	5.54|5.54	-6.3|-6.3	0.02007|0.02007	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80132|0.80132	0.4567|0.4567	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	P;P|.	0.50819|.	0.939;0.934|.	P;P|.	0.59643|.	0.783;0.861|.	D|D	0.84556|0.84556	0.0647|0.0647	10|5	0.59425|.	D|.	0.04|.	.|.	15.8089|15.8089	0.78538|0.78538	0.7334:0.0:0.2666:0.0|0.7334:0.0:0.2666:0.0	.|.	149;149|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	L|C	149|75	ENSP00000333734:F149L;ENSP00000266254:F149L|.	ENSP00000266254:F149L|.	F|S	-|-	3|2	2|0	TTLL1|TTLL1	41794416|41794416	1.000000|1.000000	0.71417|0.71417	0.781000|0.781000	0.31783|0.31783	0.756000|0.756000	0.42949|0.42949	1.329000|1.329000	0.33770|0.33770	-1.017000|-1.017000	0.03367|0.03367	-0.140000|-0.140000	0.14226|0.14226	TTC|TCC	TTLL1	-	pfam_Tub_tyr_ligase		0.547	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	G	NM_012263		43464472	-1	no_errors	ENST00000266254	ensembl	human	known	70_37	missense	SNP	0.936	C
TTLL1	25809	genome.wustl.edu	37	22	43464588	43464588	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr22:43464588G>C	ENST00000266254.7	-	5	571	c.331C>G	c.(331-333)Cca>Gca	p.P111A	TTLL1_ENST00000331018.7_Missense_Mutation_p.P111A	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	111	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TAGGTGACTGGAACAAAGTCT	0.552																																																	0													120.0	122.0	121.0					22																	43464588		2203	4300	6503	SO:0001583	missense	25809			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.331C>G	22.37:g.43464588G>C	ENSP00000266254:p.Pro111Ala		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.P111A	ENST00000266254.7	37	c.331	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.046936|4.046936	0.75846|0.75846	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000495814|ENST00000331018;ENST00000266254	.|T;T	.|0.07021	.|3.23;3.23	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.092891	.|0.85682	.|D	.|0.000000	T|T	0.45397|0.45397	0.1340|0.1340	H|H	0.95950|0.95950	3.745|3.745	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.62760|0.62760	-0.6786|-0.6786	5|10	.|0.72032	.|D	.|0.01	.|.	19.4814|19.4814	0.95011|0.95011	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|111;111	.|O95922-4;O95922	.|.;TTLL1_HUMAN	L|A	36|111	.|ENSP00000333734:P111A;ENSP00000266254:P111A	.|ENSP00000266254:P111A	F|P	-|-	3|1	2|0	TTLL1|TTLL1	41794532|41794532	1.000000|1.000000	0.71417|0.71417	0.435000|0.435000	0.26784|0.26784	0.641000|0.641000	0.38312|0.38312	9.369000|9.369000	0.97156|0.97156	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	TTC|CCA	TTLL1	-	pfam_Tub_tyr_ligase		0.552	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	G	NM_012263		43464588	-1	no_errors	ENST00000266254	ensembl	human	known	70_37	missense	SNP	0.999	C
TTN	7273	genome.wustl.edu	37	2	179393094	179393094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:179393094G>A	ENST00000591111.1	-	311	102585	c.102361C>T	c.(102361-102363)Cga>Tga	p.R34121*	TTN_ENST00000359218.5_Nonsense_Mutation_p.R26822*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R26889*|TTN_ENST00000589042.1_Nonsense_Mutation_p.R35762*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R26697*|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R33194*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34121	Ig-like 151.|Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGCATTTCGGATTTCAAGG	0.393																																																	0													130.0	118.0	122.0					2																	179393094		1876	4119	5995	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102361C>T	2.37:g.179393094G>A	ENSP00000465570:p.Arg34121*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R33194*	ENST00000591111.1	37	c.99580		2	.	.	.	.	.	.	.	.	.	.	G	78	147.057929	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.25	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2603	0.60101	0.0:0.0:0.7112:0.2888	.	.	.	.	X	33194;26697;26889;26822;26694	.	ENSP00000340554:R26889X	R	-	1	2	TTN	179101340	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	2.284000	0.43478	1.318000	0.45170	-0.324000	0.08512	CGA	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179393094	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.998	A
TTN	7273	genome.wustl.edu	37	2	179499165	179499165	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr2:179499165G>T	ENST00000591111.1	-	180	37644	c.37420C>A	c.(37420-37422)Caa>Aaa	p.Q12474K	TTN_ENST00000359218.5_Missense_Mutation_p.Q5175K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q5242K|TTN_ENST00000589042.1_Missense_Mutation_p.Q14115K|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q5050K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q11547K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12474					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCAAATTGAGAATCATTA	0.383																																																	0													72.0	73.0	73.0					2																	179499165		1857	4110	5967	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37420C>A	2.37:g.179499165G>T	ENSP00000465570:p.Gln12474Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q11547K	ENST00000591111.1	37	c.34639		2	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546123	0.45383	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48714	0.1515	N	0.12527	0.23	0.32188	N	0.579488	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.18561	0.012;0.012;0.022;0.022	T	0.55642	-0.8109	9	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	5050;5175;5242;12474	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11547;5050;5242;5175;5050	ENSP00000343764:Q11547K;ENSP00000434586:Q5050K;ENSP00000340554:Q5242K;ENSP00000352154:Q5175K	ENSP00000340554:Q5242K	Q	-	1	0	TTN	179207410	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	4.898000	0.63238	2.941000	0.99782	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179499165	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
USP1	7398	genome.wustl.edu	37	1	62916624	62916624	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:62916624C>T	ENST00000339950.4	+	9	3145	c.2330C>T	c.(2329-2331)cCt>cTt	p.P777L	USP1_ENST00000371146.1_Missense_Mutation_p.P777L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	777	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ACTTCTACTCCTTACTTGCTA	0.343																																					Ovarian(122;1846 2315 3982 19504)												0													68.0	73.0	71.0					1																	62916624		2195	4299	6494	SO:0001583	missense	7398				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.2330C>T	1.37:g.62916624C>T	ENSP00000343526:p.Pro777Leu		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.P777L	ENST00000339950.4	37	c.2330	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165908	0.78339	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.75477	-0.94;-0.94	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82372	-0.0490	10	0.87932	D	0	-14.122	19.9142	0.97043	0.0:1.0:0.0:0.0	.	777	O94782	UBP1_HUMAN	L	777	ENSP00000360188:P777L;ENSP00000343526:P777L	ENSP00000343526:P777L	P	+	2	0	USP1	62689212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.204000	0.77872	2.941000	0.99782	0.655000	0.94253	CCT	USP1	-	pfscan_Peptidase_C19		0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	C	NM_001017415		62916624	+1	no_errors	ENST00000339950	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP57	149465	genome.wustl.edu	37	1	43663242	43663242	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:43663242G>A	ENST00000372492.4	+	7	1465	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.E381K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		381										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTCACTTTGAGTATTTGAT	0.493																																																	0													195.0	173.0	180.0					1																	43663242		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.1141G>A	1.37:g.43663242G>A	ENSP00000361570:p.Glu381Lys		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E381K	ENST00000372492.4	37	c.1141		1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699878	0.88924	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.38401	1.14;3.24	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.099943	0.64402	D	0.000002	T	0.53722	0.1814	M	0.79258	2.445	0.58432	D	0.999998	B;P	0.41546	0.243;0.754	B;P	0.49829	0.119;0.623	T	0.41928	-0.9481	10	0.18710	T	0.47	.	20.248	0.98401	0.0:0.0:1.0:0.0	.	381;381	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	K	381	ENSP00000361570:E381K;ENSP00000435310:E381K	ENSP00000361570:E381K	E	+	1	0	WDR65	43435829	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	6.188000	0.72045	2.790000	0.95986	0.655000	0.94253	GAG	WDR65	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.493	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	G			43663242	+1	no_errors	ENST00000528956	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR3	10885	genome.wustl.edu	37	1	118477108	118477108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr1:118477108C>T	ENST00000349139.5	+	3	231	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	62						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCTTATCCTTCAGGGGCTTAA	0.403																																																	0													78.0	79.0	79.0					1																	118477108		2203	4300	6503	SO:0001587	stop_gained	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.184C>T	1.37:g.118477108C>T	ENSP00000308179:p.Gln62*			Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q62*	ENST00000349139.5	37	c.184	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249624	0.80024	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.63	5.63	0.86233	.	0.280476	0.40302	N	0.001122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-8.8205	15.7166	0.77672	0.1448:0.8552:0.0:0.0	.	.	.	.	X	62	.	ENSP00000308179:Q62X	Q	+	1	0	WDR3	118278631	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	2.106000	0.41835	2.814000	0.96858	0.563000	0.77884	CAG	WDR3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	C	NM_006784		118477108	+1	no_errors	ENST00000349139	ensembl	human	known	70_37	nonsense	SNP	1.000	T
YLPM1	56252	genome.wustl.edu	37	14	75266402	75266402	+	Splice_Site	SNP	T	T	C			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:75266402T>C	ENST00000325680.7	+	5	4524		c.e5+2		YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Splice_Site	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1						regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AATGCTTCGGTAAGTTGACTC	0.373																																																	0													34.0	32.0	32.0					14																	75266402		1879	4118	5997	SO:0001630	splice_region_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4400+2T>C	14.37:g.75266402T>C			P49752|Q96I64|Q9P1V7	Splice_Site	SNP	-	e5+2	ENST00000325680.7	37	c.4400+2	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288276	0.80803	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1668	0.81768	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	YLPM1	74336155	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.155000	0.71833	2.220000	0.72140	0.519000	0.50382	.	YLPM1	-	-		0.373	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404451.1	T	NM_019589	Intron	75266402	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ZCCHC6	79670	genome.wustl.edu	37	9	88916323	88916323	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr9:88916323C>T	ENST00000375963.3	-	26	4460	c.4288G>A	c.(4288-4290)Gag>Aag	p.E1430K	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1194K|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E330K|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1392K|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E719K	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1430					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGGATCTTCTCCCTCCCCAGG	0.463																																																	0													137.0	118.0	124.0					9																	88916323		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4288G>A	9.37:g.88916323C>T	ENSP00000365130:p.Glu1430Lys		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E1430K	ENST00000375963.3	37	c.4288	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226160	0.79576	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.60040	0.22;0.65;0.55;0.51	5.38	5.38	0.77491	.	0.244523	0.40554	N	0.001074	T	0.63616	0.2526	L	0.29908	0.895	0.48975	D	0.999731	P;D;P	0.55385	0.72;0.971;0.651	B;P;B	0.58077	0.35;0.832;0.078	T	0.63550	-0.6612	10	0.49607	T	0.09	-33.4978	19.3333	0.94303	0.0:1.0:0.0:0.0	.	1392;1194;1430	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	K	719;1194;1392;330;1430	ENSP00000277141:E719K;ENSP00000365127:E1194K;ENSP00000365128:E1392K;ENSP00000365130:E1430K	ENSP00000277141:E719K	E	-	1	0	ZCCHC6	88106143	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	3.956000	0.56722	2.793000	0.96121	0.655000	0.94253	GAG	ZCCHC6	-	superfamily_Znf_CCHC		0.463	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	C	NM_024617		88916323	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF100	163227	genome.wustl.edu	37	19	21910654	21910654	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:21910654C>T	ENST00000358296.6	-	5	658	c.460G>A	c.(460-462)Gag>Aag	p.E154K	ZNF100_ENST00000305570.6_Missense_Mutation_p.E90K	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTTTACACTCATCCACACTT	0.333																																																	0													156.0	155.0	155.0					19																	21910654		2040	4238	6278	SO:0001583	missense	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.460G>A	19.37:g.21910654C>T	ENSP00000351042:p.Glu154Lys		Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E154K	ENST00000358296.6	37	c.460	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	8.101	0.776633	0.16120	.	.	ENSG00000197020	ENST00000358296	T	0.04809	3.55	1.13	-0.112	0.13572	.	.	.	.	.	T	0.06050	0.0157	M	0.66297	2.02	0.09310	N	1	P;B	0.39748	0.686;0.325	B;B	0.37833	0.259;0.188	T	0.30297	-0.9983	9	0.46703	T	0.11	.	4.8189	0.13381	0.0:0.593:0.0:0.407	.	154;208	Q8IYN0;Q4G131	ZN100_HUMAN;.	K	154	ENSP00000351042:E154K	ENSP00000351042:E154K	E	-	1	0	ZNF100	21702494	.	.	0.029000	0.17559	0.260000	0.26232	.	.	0.523000	0.28482	0.174000	0.16983	GAG	ZNF100	-	NULL		0.333	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	C	NM_173531		21910654	-1	no_errors	ENST00000358296	ensembl	human	known	70_37	missense	SNP	0.034	T
ZNF143	7702	genome.wustl.edu	37	11	9494253	9494253	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr11:9494253G>A	ENST00000396602.2	+	3	261	c.142G>A	c.(142-144)Gta>Ata	p.V48I	ZNF143_ENST00000396597.3_Intron|ZNF143_ENST00000299606.2_Missense_Mutation_p.V48I|ZNF143_ENST00000396604.1_Missense_Mutation_p.V48I|ZNF143_ENST00000530463.1_Missense_Mutation_p.V48I	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	48					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TATGGAAGGCGTAAGCTTGCA	0.343																																																	0													148.0	142.0	144.0					11																	9494253		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.142G>A	11.37:g.9494253G>A	ENSP00000379847:p.Val48Ile		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V48I	ENST00000396602.2	37	c.142	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533124	0.64972	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000532577;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	T;T;T;T;T;T;T;T;T;T	0.49720	0.79;2.87;2.88;2.87;0.78;0.83;0.77;2.79;0.8;0.79	5.23	5.23	0.72850	.	0.310876	0.27366	N	0.019699	T	0.40570	0.1122	L	0.47716	1.5	0.53688	D	0.999979	B;B	0.23806	0.091;0.091	B;B	0.17098	0.017;0.017	T	0.19844	-1.0293	10	0.37606	T	0.19	.	12.3287	0.55026	0.0766:0.0:0.9234:0.0	.	48;48	E7ER34;P52747	.;ZN143_HUMAN	I	48	ENSP00000434638:V48I;ENSP00000379849:V48I;ENSP00000379847:V48I;ENSP00000432154:V48I;ENSP00000433221:V48I;ENSP00000409432:V48I;ENSP00000435881:V48I;ENSP00000299606:V48I;ENSP00000433743:V48I;ENSP00000388628:V48I	ENSP00000299606:V48I	V	+	1	0	ZNF143	9450829	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.329000	0.79170	2.722000	0.93159	0.650000	0.86243	GTA	ZNF143	-	NULL		0.343	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	G	NM_003442		9494253	+1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF157	7712	genome.wustl.edu	37	X	47272358	47272358	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:47272358C>G	ENST00000377073.3	+	4	972	c.886C>G	c.(886-888)Cat>Gat	p.H296D		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	296					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CCACAGAACTCATACAGGGGA	0.428																																																	0													42.0	43.0	43.0					X																	47272358		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.886C>G	X.37:g.47272358C>G	ENSP00000366273:p.His296Asp		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H296D	ENST00000377073.3	37	c.886	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966063	0.53507	.	.	ENSG00000147117	ENST00000377073	T	0.67698	-0.28	2.89	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81128	0.4758	H	0.95950	3.745	0.27262	N	0.958602	P	0.43392	0.805	P	0.50378	0.639	T	0.73745	-0.3886	9	0.87932	D	0	.	8.5058	0.33186	0.2321:0.7679:0.0:0.0	.	296	P51786	ZN157_HUMAN	D	296	ENSP00000366273:H296D	ENSP00000366273:H296D	H	+	1	0	ZNF157	47157302	1.000000	0.71417	0.927000	0.36925	0.986000	0.74619	5.160000	0.64929	0.609000	0.30018	0.600000	0.82982	CAT	ZNF157	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	C	NM_003446		47272358	+1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF219	51222	genome.wustl.edu	37	14	21560966	21560966	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr14:21560966G>A	ENST00000360947.3	-	3	901	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000421093.2_Missense_Mutation_p.R164C|ZNF219_ENST00000451119.2_Missense_Mutation_p.R164C	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	164					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TAGGGGCAACGGAAGGCGGAC	0.677											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	17.0	16.0					14																	21560966		2201	4297	6498	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.490C>T	14.37:g.21560966G>A	ENSP00000354206:p.Arg164Cys	749	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept	p.R164C	ENST00000360947.3	37	c.490	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256024	0.80246	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270	T;T;T;T	0.75938	0.85;0.85;0.85;-0.98	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000002	D	0.82559	0.5063	M	0.64080	1.96	0.54753	D	0.999988	D	0.89917	1.0	D	0.73380	0.98	D	0.83608	0.0132	10	0.87932	D	0	-10.219	11.0886	0.48102	0.0:0.0:0.8156:0.1844	.	164	Q9P2Y4	ZN219_HUMAN	C	164	ENSP00000354206:R164C;ENSP00000388558:R164C;ENSP00000392401:R164C;ENSP00000450803:R164C	ENSP00000354206:R164C	R	-	1	0	ZNF219	20630806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.131000	0.57970	2.665000	0.90641	0.591000	0.81541	CGT	ZNF219	-	smart_Znf_C2H2-like		0.677	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2	G			21560966	-1	no_errors	ENST00000360947	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF518A	9849	genome.wustl.edu	37	10	97919065	97919065	+	RNA	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr10:97919065G>A	ENST00000534948.1	+	0	3843							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TGTCAAAACCGAGGGTGCCCC	0.423																																																	0													61.0	60.0	60.0					10																	97919065		1847	4093	5940			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919065G>A			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-		0.423	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		G	NM_014803		97919065	+1	no_errors	ENST00000316045	ensembl	human	known	70_37	rna	SNP	0.998	A
ZNF646	9726	genome.wustl.edu	37	16	31091077	31091077	+	Silent	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr16:31091077G>A	ENST00000394979.2	+	1	3855	c.3432G>A	c.(3430-3432)ccG>ccA	p.P1144P	ZNF646_ENST00000300850.5_Silent_p.P1144P			O15015	ZN646_HUMAN	zinc finger protein 646	1144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGGAGGGGCCGGGGCAAGCAG	0.607																																																	0													29.0	36.0	34.0					16																	31091077		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3432G>A	16.37:g.31091077G>A			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1144	ENST00000394979.2	37	c.3432		16																																																																																			ZNF646	-	NULL		0.607	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31091077	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF711	7552	genome.wustl.edu	37	X	84525754	84525754	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chrX:84525754G>A	ENST00000373165.3	+	9	1512	c.1206G>A	c.(1204-1206)atG>atA	p.M402I	ZNF711_ENST00000276123.3_Missense_Mutation_p.M402I|ZNF711_ENST00000360700.4_Missense_Mutation_p.M448I|ZNF711_ENST00000395402.1_Missense_Mutation_p.M410I|ZNF711_ENST00000542798.1_Missense_Mutation_p.M244I	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	402					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAAGACACATGAAGAATCATC	0.363																																																	0													29.0	26.0	27.0					X																	84525754		2203	4297	6500	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1206G>A	X.37:g.84525754G>A	ENSP00000362260:p.Met402Ile		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M410I	ENST00000373165.3	37	c.1230	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777043	0.70107	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.52532	D	0.000063	T	0.57021	0.2025	N	0.21617	0.685	0.80722	D	1	P;D	0.53885	0.831;0.963	P;D	0.69824	0.758;0.966	T	0.59847	-0.7377	10	0.51188	T	0.08	-11.324	18.4486	0.90695	0.0:0.0:1.0:0.0	.	448;402	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	I	410;402;402;448;244	ENSP00000378798:M410I;ENSP00000362260:M402I;ENSP00000276123:M402I;ENSP00000353922:M448I;ENSP00000442071:M244I	ENSP00000276123:M402I	M	+	3	0	ZNF711	84412410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.298000	0.77334	0.513000	0.50165	ATG	ZNF711	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84525754	+1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF826P	664701	genome.wustl.edu	37	19	20519792	20519792	+	IGR	SNP	C	C	T	rs587710005	byFrequency	TCGA-C5-A1MN-01A-11D-A14W-08	TCGA-C5-A1MN-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a31ce2af-48b0-4a05-b99a-79ae57d8ba6c	b7c6b71d-1fa6-41bb-a7af-565e18048458	g.chr19:20519792C>T								MIR1270-1 (9629 upstream) : ZNF826P (56130 downstream)																							TGTCTCTTCACGGTCAGAGGT	0.413													.|||	3	0.000599042	0.0	0.0	5008	,	,		7811	0.002		0.0	False		,,,				2504	0.001																0																																										SO:0001628	intergenic_variant	664701																															19.37:g.20519792C>T				RNA	SNP	-	NULL		37	NULL		19																																																																																			ZNF826P	-	-	0	0.413					ZNF826P	HGNC			C			20519792	-1	no_errors	ENST00000541160	ensembl	human	known	70_37	rna	SNP	0.002	T
