#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCA17P	650655	genome.wustl.edu	37	16	2460230	2460230	+	RNA	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:2460230G>C	ENST00000469908.1	+	0	2134					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		TGAGGACTTTGATAAGCTCTA	0.483																																																	0																																												650655			DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2460230G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000469908.1	37	NULL		16																																																																																			ABCA17P	-	-		0.483	ABCA17P-002	KNOWN	basic	processed_transcript	ABCA17P	HGNC	pseudogene	OTTHUMT00000334904.1	G	NR_003574		2460230	+1	no_errors	ENST00000469908	ensembl	human	known	70_37	rna	SNP	0.017	C
ABCD3	5825	genome.wustl.edu	37	1	94984053	94984053	+	3'UTR	DEL	A	A	-	rs144257807	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:94984053delA	ENST00000370214.4	+	0	3372				ABCD3_ENST00000394233.2_3'UTR|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						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)		TGTTCAGattaaaaaaaaaaa	0.284													|||unknown(HR)	1864	0.372204	0.2595	0.4769	5008	,	,		14716	0.2748		0.5318	False		,,,				2504	0.3865																0																																										SO:0001624	3_prime_UTR_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.*1368A>-	1.37:g.94984053delA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	DEL	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			ABCD3	-	-		0.284	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	A	NM_002858		94984053	+1	no_errors	ENST00000484213	ensembl	human	known	70_37	rna	DEL	0.959	-
ABL1	25	genome.wustl.edu	37	9	133759592	133759592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr9:133759592C>T	ENST00000318560.5	+	11	2296	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	639					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGAAGAGGGCCGAGACATCAG	0.652			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													41.0	47.0	45.0					9																	133759592		2203	4299	6502	SO:0001587	stop_gained	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1915C>T	9.37:g.133759592C>T	ENSP00000323315:p.Arg639*	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Nonsense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R658*	ENST00000318560.5	37	c.1972	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.472999	0.98827	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	.	.	.	5.57	4.66	0.58398	.	0.254141	0.39985	N	0.001209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	12.5096	0.55999	0.4186:0.5814:0.0:0.0	.	.	.	.	X	454;658;639	.	ENSP00000323315:R639X	R	+	1	2	ABL1	132749413	0.943000	0.32029	0.169000	0.22859	0.782000	0.44232	1.648000	0.37271	1.326000	0.45319	0.561000	0.74099	CGA	ABL1	-	NULL		0.652	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133759592	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	nonsense	SNP	0.910	T
ACAN	176	genome.wustl.edu	37	15	89401545	89401545	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr15:89401545G>A	ENST00000561243.1	+	11	5729	c.5729G>A	c.(5728-5730)aGa>aAa	p.R1910K	ACAN_ENST00000352105.7_Missense_Mutation_p.R1910K|ACAN_ENST00000559004.1_Missense_Mutation_p.R1910K|ACAN_ENST00000439576.2_Missense_Mutation_p.R1910K			P16112	PGCA_HUMAN	aggrecan	1905	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAATCCTCCAGAGCTGAGATT	0.512																																																	0													70.0	75.0	73.0					15																	89401545		1999	4177	6176	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5729G>A	15.37:g.89401545G>A	ENSP00000453342:p.Arg1910Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.R1910K	ENST00000561243.1	37	c.5729	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541070	0.13250	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02103	4.7;4.45	5.56	4.63	0.57726	.	0.585291	0.13006	N	0.421298	T	0.01905	0.0060	N	0.08118	0	0.21386	N	0.99971	P;P	0.38167	0.621;0.621	B;B	0.38378	0.272;0.272	T	0.55211	-0.8176	10	0.20046	T	0.44	-6.8255	15.4245	0.75041	0.0:0.1393:0.8607:0.0	.	1910;1910	E7ENV9;E7EX88	.;.	K	1910;1910;1796	ENSP00000387356:R1910K;ENSP00000341615:R1910K	ENSP00000268134:R1796K	R	+	2	0	ACAN	87202549	1.000000	0.71417	0.584000	0.28653	0.390000	0.30446	5.329000	0.65892	1.310000	0.45006	0.655000	0.94253	AGA	ACAN	-	NULL		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	G	NM_001135		89401545	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	0.998	A
ACSL5	51703	genome.wustl.edu	37	10	114171226	114171226	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:114171226G>A	ENST00000393081.1	+	10	1116	c.809G>A	c.(808-810)gGa>gAa	p.G270E	RP11-324O2.3_ENST00000598447.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.G270E|ACSL5_ENST00000369410.3_Missense_Mutation_p.G52E|RP11-324O2.6_ENST00000424422.1_RNA|RP11-324O2.3_ENST00000594870.2_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000356116.1_Missense_Mutation_p.G326E|ACSL5_ENST00000433418.1_Missense_Mutation_p.G270E|ACSL5_ENST00000354273.4_Missense_Mutation_p.G270E	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	270					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GACCCCAAAGGAGCCATGATA	0.393																																																	0													97.0	94.0	95.0					10																	114171226		2203	4300	6503	SO:0001583	missense	51703			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.809G>A	10.37:g.114171226G>A	ENSP00000376796:p.Gly270Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G326E	ENST00000393081.1	37	c.977	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965009	0.92855	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.61	5.61	0.85477	AMP-dependent synthetase/ligase (1);	0.051754	0.85682	D	0.000000	D	0.88526	0.6460	H	0.99927	4.965	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.994;0.987;0.995;0.997	D	0.93900	0.7187	10	0.87932	D	0	-3.4332	18.3953	0.90496	0.0:0.0:1.0:0.0	.	52;270;326;270	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	E	270;270;326;270;270;52	ENSP00000346680:G270E;ENSP00000376796:G270E;ENSP00000348429:G326E;ENSP00000403647:G270E;ENSP00000346223:G270E;ENSP00000358418:G52E	ENSP00000346223:G270E	G	+	2	0	ACSL5	114161216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.187000	0.94912	2.650000	0.89964	0.655000	0.94253	GGA	ACSL5	-	pfam_AMP-dep_Synth/Lig		0.393	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	G	NM_016234		114171226	+1	no_errors	ENST00000356116	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKRD54	129138	genome.wustl.edu	37	22	38229154	38229154	+	Intron	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:38229154G>T	ENST00000215941.4	-	5	788				ANKRD54_ENST00000609454.1_Intron|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Intron|ANKRD54_ENST00000411961.2_Intron	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					GAGAGGGGAAGAAACCACATA	0.577																																																	0													122.0	121.0	121.0					22																	38229154		2203	4300	6503	SO:0001627	intron_variant	129138			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.595+11C>A	22.37:g.38229154G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSB1|Q9UGV1	RNA	SNP	-	NULL	ENST00000215941.4	37	NULL	CCDS13959.1	22																																																																																			ANKRD54	-	-		0.577	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1	G	NM_138797		38229154	-1	no_errors	ENST00000498417	ensembl	human	known	70_37	rna	SNP	0.000	T
APMAP	57136	genome.wustl.edu	37	20	24949580	24949580	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:24949580G>T	ENST00000217456.2	-	8	1279	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	330					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										ATCCAGCATGGAAAACCCAGG	0.458																																																	0													73.0	74.0	74.0					20																	24949580		2203	4300	6503	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.989C>A	20.37:g.24949580G>T	ENSP00000217456:p.Ser330Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	pfam_Strictosidine_synth_cons-reg,pfam_SGL	p.S330Y	ENST00000217456.2	37	c.989	CCDS13166.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.986255|3.986255	0.74589|0.74589	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000451442|ENST00000217456	.|T	.|0.26810	.|1.71	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Six-bladed beta-propeller, TolB-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57095|0.57095	0.2030|0.2030	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.70487	.|0.923;0.969	T|T	0.61955|0.61955	-0.6956|-0.6956	5|10	.|0.59425	.|D	.|0.04	-25.0044|-25.0044	17.3202|17.3202	0.87233|0.87233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|314;330	.|A2A2F9;Q9HDC9	.|.;APMAP_HUMAN	T|Y	315|330	.|ENSP00000217456:S330Y	.|ENSP00000217456:S330Y	P|S	-|-	1|2	0|0	C20orf3|C20orf3	24897580|24897580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.698000|9.698000	0.98700|0.98700	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	CCA|TCC	APMAP	-	NULL		0.458	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APMAP	HGNC	protein_coding	OTTHUMT00000078380.2	G	NM_020531		24949580	-1	no_errors	ENST00000217456	ensembl	human	known	70_37	missense	SNP	1.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117024752	117024752	+	Silent	SNP	C	C	T	rs561349730		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:117024752C>T	ENST00000355044.3	+	11	1896	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	590					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)		TAGTCATTAACGGGTAAAAGA	0.328																																																	0													108.0	113.0	111.0					10																	117024752		2203	4299	6502	SO:0001819	synonymous_variant	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.1770C>T	10.37:g.117024752C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	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.N590	ENST00000355044.3	37	c.1770	CCDS7592.1	10																																																																																			ATRNL1	-	pfam_Kelch_1		0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	C	XM_049349		117024752	+1	no_errors	ENST00000355044	ensembl	human	known	70_37	silent	SNP	1.000	T
MISP	126353	genome.wustl.edu	37	19	759979	759979	+	Silent	SNP	G	G	A	rs202184785		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:759979G>A	ENST00000215582.6	+	3	1954	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	617					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CAAACGTGGCGTGGACAGTGG	0.582																																																	0								G		0,4406		0,0,2203	122.0	104.0	110.0		1851	0.9	0.1	19		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf21	NM_173481.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		617/680	759979	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1851G>A	19.37:g.759979G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.A617	ENST00000215582.6	37	c.1851	CCDS12042.1	19																																																																																			C19orf21	-	NULL		0.582	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf21	HGNC	protein_coding	OTTHUMT00000457600.2	G	NM_173481		759979	+1	no_errors	ENST00000215582	ensembl	human	known	70_37	silent	SNP	0.920	A
MROH8	140699	genome.wustl.edu	37	20	35742515	35742515	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:35742515G>C	ENST00000400441.3	-	20	2568	c.2569C>G	c.(2569-2571)Ctc>Gtc	p.L857V	MROH8_ENST00000441008.2_Missense_Mutation_p.L843V|MROH8_ENST00000217333.8_Missense_Mutation_p.L686V			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GCTCCAAAGAGAGTCACGGAG	0.468																																																	0													75.0	71.0	72.0					20																	35742515		1879	4097	5976	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2569C>G	20.37:g.35742515G>C	ENSP00000383291:p.Leu857Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L857V	ENST00000400441.3	37	c.2569		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.902438|1.902438	0.33628|0.33628	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458	T;T;T|.	0.67345|.	-0.25;1.35;-0.26|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.197868|.	0.36134|.	N|.	0.002780|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.69823|0.69823	2.125|2.125	0.44110|0.44110	D|D	0.996885|0.996885	P;B|.	0.42409|.	0.779;0.27|.	B;B|.	0.36766|.	0.232;0.225|.	T|T	0.72626|0.72626	-0.4236|-0.4236	10|5	0.51188|.	T|.	0.08|.	-7.2638|-7.2638	15.4256|15.4256	0.75048|0.75048	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	857;691|.	E7ETR9;Q9H579-2|.	.;.|.	V|C	843;857;686|484	ENSP00000392144:L843V;ENSP00000383291:L857V;ENSP00000217333:L686V|.	ENSP00000217333:L686V|.	L|S	-|-	1|2	0|0	C20orf132|C20orf132	35175929|35175929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.394000|0.394000	0.30568|0.30568	2.179000|2.179000	0.42528|0.42528	2.711000|2.711000	0.92665|0.92665	0.609000|0.609000	0.83330|0.83330	CTC|TCT	C20orf132	-	superfamily_ARM-type_fold		0.468	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		G	NM_152503		35742515	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	1.000	C
CABIN1	23523	genome.wustl.edu	37	22	24562874	24562874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:24562874G>T	ENST00000398319.2	+	32	5660	c.5275G>T	c.(5275-5277)Gag>Tag	p.E1759*	CABIN1_ENST00000405822.2_Nonsense_Mutation_p.E1680*|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E1759*|CABIN1_ENST00000337989.7_Nonsense_Mutation_p.E184*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1759					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGGCCCACTGAGCCCATGGA	0.667																																																	0													31.0	32.0	31.0					22																	24562874		2193	4296	6489	SO:0001587	stop_gained	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5275G>T	22.37:g.24562874G>T	ENSP00000381364:p.Glu1759*	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1759*	ENST00000398319.2	37	c.5275	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.023618	0.97211	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	.	.	.	4.87	4.87	0.63330	.	0.060881	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.4537	0.87600	0.0:0.0:1.0:0.0	.	.	.	.	X	1759;1680;1759;184;184	.	ENSP00000263119:E1759X	E	+	1	0	CABIN1	22892874	1.000000	0.71417	0.902000	0.35471	0.345000	0.29048	8.706000	0.91362	2.433000	0.82419	0.456000	0.33151	GAG	CABIN1	-	NULL		0.667	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	G	NM_012295		24562874	+1	no_errors	ENST00000263119	ensembl	human	known	70_37	nonsense	SNP	0.999	T
CAPZA3	93661	genome.wustl.edu	37	12	18891779	18891779	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:18891779G>T	ENST00000317658.3	+	1	735	c.577G>T	c.(577-579)Gct>Tct	p.A193S	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	193					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATTTGTGCAAGCTCACTTCTT	0.398																																																	0													79.0	79.0	79.0					12																	18891779		2203	4300	6503	SO:0001583	missense	93661			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.577G>T	12.37:g.18891779G>T	ENSP00000326238:p.Ala193Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q969J0	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.A193S	ENST00000317658.3	37	c.577	CCDS8681.1	12	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247435	0.59103	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	F-actin capping protein, alpha subunit, conserved site (1);	0.181068	0.36519	N	0.002550	T	0.56292	0.1975	L	0.44542	1.39	0.30601	N	0.760496	D	0.65815	0.995	D	0.64506	0.926	T	0.59322	-0.7476	9	0.87932	D	0	-10.4784	10.4514	0.44524	0.0:0.0:0.8059:0.1941	.	193	Q96KX2	CAZA3_HUMAN	S	193	.	ENSP00000326238:A193S	A	+	1	0	CAPZA3	18783046	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.502000	0.35704	2.498000	0.84270	0.462000	0.41574	GCT	CAPZA3	-	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha		0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA3	HGNC	protein_coding	OTTHUMT00000401902.1	G	NM_033328		18891779	+1	no_errors	ENST00000317658	ensembl	human	known	70_37	missense	SNP	1.000	T
CATSPER2P1	440278	genome.wustl.edu	37	15	44028956	44028956	+	RNA	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr15:44028956C>T	ENST00000381680.2	-	0	828				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		TTCCTATTATCATGTTAACTT	0.338																																																	0																																												440278			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028956C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-		0.338	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	C	NR_002318		44028956	-1	no_errors	ENST00000381680	ensembl	human	known	70_37	rna	SNP	0.000	T
CCDC64B	146439	genome.wustl.edu	37	16	3081097	3081097	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:3081097C>T	ENST00000572449.1	-	3	399	c.337G>A	c.(337-339)Gag>Aag	p.E113K	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E113K|CCDC64B_ENST00000573514.1_5'UTR|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	113										breast(1)|endometrium(2)|large_intestine(1)	4						GCCTCCCACTCGGCTCCTCGG	0.716																																																	0													4.0	5.0	5.0					16																	3081097		1608	3453	5061	SO:0001583	missense	146439			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.337G>A	16.37:g.3081097C>T	ENSP00000459043:p.Glu113Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658L9	Missense_Mutation	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.E113K	ENST00000572449.1	37	c.337	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698946	0.68501	.	.	ENSG00000162069	ENST00000389347	T	0.05382	3.45	5.4	5.4	0.78164	.	0.063690	0.64402	D	0.000007	T	0.24275	0.0588	M	0.71206	2.165	0.58432	D	0.999996	D	0.89917	1.0	D	0.69307	0.963	T	0.00178	-1.1951	10	0.72032	D	0.01	-23.8629	16.6682	0.85258	0.0:1.0:0.0:0.0	.	113	A1A5D9	BICR2_HUMAN	K	113	ENSP00000373998:E113K	ENSP00000373998:E113K	E	-	1	0	CCDC64B	3021098	1.000000	0.71417	0.950000	0.38849	0.751000	0.42716	5.600000	0.67599	2.542000	0.85734	0.561000	0.74099	GAG	CCDC64B	-	NULL		0.716	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	C			3081097	-1	no_errors	ENST00000389347	ensembl	human	known	70_37	missense	SNP	0.998	T
CD47	961	genome.wustl.edu	37	3	107762965	107762965	+	IGR	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:107762965C>A	ENST00000361309.5	-	0	1285				CD47_ENST00000471694.1_5'UTR|CD47_ENST00000355354.7_3'UTR	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CCACAGATCCCCATTTTTGAA	0.343																																																	0																																										SO:0001628	intergenic_variant	961				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216		3.37:g.107762965C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	RNA	SNP	-	NULL	ENST00000361309.5	37	NULL	CCDS43126.1	3																																																																																			CD47	-	-		0.343	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	C	NM_001777		107762965	-1	no_errors	ENST00000471694	ensembl	human	known	70_37	rna	SNP	0.005	A
CDH11	1009	genome.wustl.edu	37	16	65022216	65022216	+	Silent	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:65022216G>A	ENST00000268603.4	-	7	1458	c.843C>T	c.(841-843)gcC>gcT	p.A281A	CDH11_ENST00000566827.1_Silent_p.A155A|CDH11_ENST00000394156.3_Silent_p.A281A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	281	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A281A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCCCAGGGACGGCTGCTTCTG	0.393			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	1	Substitution - coding silent(1)	large_intestine(1)											172.0	157.0	162.0					16																	65022216		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.843C>T	16.37:g.65022216G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A281	ENST00000268603.4	37	c.843	CCDS10803.1	16																																																																																			CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.393	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		65022216	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	0.984	A
CDK2	1017	genome.wustl.edu	37	12	56365574	56365574	+	3'UTR	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:56365574G>T	ENST00000266970.4	+	0	1302				CDK2_ENST00000553376.1_3'UTR|RAB5B_ENST00000448789.2_5'Flank|RAB5B_ENST00000553116.1_5'Flank|RAB5B_ENST00000360299.5_5'Flank|CDK2_ENST00000354056.4_3'UTR	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	GGGTGAAAGGGGGGAACCAGT	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.*165G>T	12.37:g.56365574G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C6|O75100	RNA	SNP	-	NULL	ENST00000266970.4	37	NULL	CCDS8898.1	12																																																																																			CDK2	-	-		0.493	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2	HGNC	protein_coding	OTTHUMT00000409650.1	G			56365574	+1	no_errors	ENST00000554545	ensembl	human	known	70_37	rna	SNP	0.000	T
COL12A1	1303	genome.wustl.edu	37	6	75893849	75893849	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:75893849G>A	ENST00000322507.8	-	9	1318	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.P337S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P337S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	337	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATTTGAAGGAGGCTCAACA	0.378																																																	0													41.0	38.0	39.0					6																	75893849		1851	4098	5949	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1009C>T	6.37:g.75893849G>A	ENSP00000325146:p.Pro337Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P337S	ENST00000322507.8	37	c.1009	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113807	0.37339	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.16743	2.32;2.32;2.32	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.084405	0.50627	D	0.000114	T	0.24084	0.0583	M	0.89715	3.055	0.36057	D	0.841141	P	0.44946	0.846	B	0.43386	0.418	T	0.26916	-1.0089	10	0.48119	T	0.1	.	16.8118	0.85722	0.0:0.1283:0.8717:0.0	.	337	Q99715	COCA1_HUMAN	S	337	ENSP00000325146:P337S;ENSP00000412864:P337S;ENSP00000421216:P337S	ENSP00000325146:P337S	P	-	1	0	COL12A1	75950569	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.762000	0.62250	2.678000	0.91216	0.655000	0.94253	CCT	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75893849	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A
CREB1	1385	genome.wustl.edu	37	2	208461841	208461841	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr2:208461841G>A	ENST00000432329.2	+	0	1336				METTL21A_ENST00000425132.1_Intron|CREB1_ENST00000374397.4_3'UTR|CREB1_ENST00000430624.1_3'UTR|CREB1_ENST00000353267.3_3'UTR|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1						activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	GCCACAACCTGAAAGACAAAA	0.338			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																			Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0																																										SO:0001624	3_prime_UTR_variant	1385			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.*59G>A	2.37:g.208461841G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P21934|Q6V963|Q9UMA7	RNA	SNP	-	NULL	ENST00000432329.2	37	NULL	CCDS2375.1	2																																																																																			CREB1	-	-		0.338	CREB1-001	KNOWN	basic|CCDS	protein_coding	CREB1	HGNC	protein_coding	OTTHUMT00000256467.3	G	NM_134442		208461841	+1	no_errors	ENST00000494983	ensembl	human	known	70_37	rna	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	3081281	3081281	+	Missense_Mutation	SNP	G	G	A	rs571113460		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr8:3081281G>A	ENST00000520002.1	-	29	5012	c.4457C>T	c.(4456-4458)cCg>cTg	p.P1486L	CSMD1_ENST00000602723.1_Missense_Mutation_p.P1486L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1486L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1485L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1486L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1485L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1486	CUB 9. {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)		GACAAAGTCCGGGTTCACTTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		16331	0.001		0.0	False		,,,				2504	0.0																0													106.0	106.0	106.0					8																	3081281		1861	4091	5952	SO:0001583	missense	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.4457C>T	8.37:g.3081281G>A	ENSP00000430733:p.Pro1486Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	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.P1486L	ENST00000520002.1	37	c.4457		8	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121750	0.56613	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.08	5.08	0.68730	CUB (5);	0.076509	0.52532	D	0.000072	T	0.46964	0.1420	M	0.65498	2.005	0.80722	D	1	D;B;D	0.89917	1.0;0.355;0.975	D;B;P	0.91635	0.999;0.146;0.491	T	0.37888	-0.9686	10	0.48119	T	0.1	.	18.8339	0.92153	0.0:0.0:1.0:0.0	.	1486;1486;1486	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1486;1486;1348;1485;1485;1485	ENSP00000383047:P1486L;ENSP00000430733:P1486L;ENSP00000441462:P1485L;ENSP00000446243:P1485L;ENSP00000441675:P1485L	ENSP00000320445:P1348L	P	-	2	0	CSMD1	3068688	1.000000	0.71417	0.942000	0.38095	0.976000	0.68499	5.303000	0.65738	2.508000	0.84585	0.650000	0.86243	CCG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3081281	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.999	A
CUEDC2	79004	genome.wustl.edu	37	10	104183034	104183034	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:104183034G>A	ENST00000369937.4	-	0	1158				CUEDC2_ENST00000465409.1_5'UTR|PSD_ENST00000492902.2_5'Flank	NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2							cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGTGCCCATGGAGGCAGCTC	0.552											OREG0020479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	79004			BC000262	CCDS41566.1	10q24.32	2008-10-23	2004-03-04	2004-03-05	ENSG00000107874	ENSG00000107874			28352	protein-coding gene	gene with protein product		614142	"""chromosome 10 open reading frame 66"""	C10orf66		12477932	Standard	NM_024040		Approved	MGC2491	uc001kvn.2	Q9H467	OTTHUMG00000018958	ENST00000369937.4:c.*149C>T	10.37:g.104183034G>A		Somatic	1379	WXS	Illumina HiSeq	Phase_IV	D3DR88|Q9BWG8	RNA	SNP	-	NULL	ENST00000369937.4	37	NULL	CCDS41566.1	10																																																																																			CUEDC2	-	-		0.552	CUEDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC2	HGNC	protein_coding	OTTHUMT00000050060.1	G	NM_024040		104183034	-1	no_errors	ENST00000465409	ensembl	human	known	70_37	rna	SNP	0.501	A
DAO	1610	genome.wustl.edu	37	12	109277522	109277522	+	Intron	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:109277522G>A	ENST00000228476.3	+	2	195				DAO_ENST00000551281.1_Intron|DAO_ENST00000548052.1_3'UTR	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase						cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GCTCGGGCTCGAAGCTGGAAG	0.527																																																	0																																										SO:0001627	intron_variant	1610			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.-9-1252G>A	12.37:g.109277522G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7I5|Q16758|Q8N6R2	RNA	SNP	-	NULL	ENST00000228476.3	37	NULL	CCDS9122.1	12																																																																																			DAO	-	-		0.527	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAO	HGNC	protein_coding	OTTHUMT00000403682.1	G			109277522	+1	no_errors	ENST00000548052	ensembl	human	known	70_37	rna	SNP	0.000	A
DCHS2	54798	genome.wustl.edu	37	4	155180783	155180783	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:155180783C>T	ENST00000357232.4	-	20	5337	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1780	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTATCATTCTCATCCTGTATC	0.383																																																	0													202.0	179.0	186.0					4																	155180783		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5338G>A	4.37:g.155180783C>T	ENSP00000349768:p.Glu1780Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1780K	ENST00000357232.4	37	c.5338	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	12.23	1.877014	0.33162	.	.	ENSG00000197410	ENST00000357232	T	0.61274	0.12	5.52	-0.46	0.12175	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	1.139660	0.06454	N	0.728217	T	0.40322	0.1112	L	0.42744	1.35	0.33168	D	0.547898	B	0.14805	0.011	B	0.14023	0.01	T	0.43956	-0.9359	10	0.06494	T	0.89	.	2.5415	0.04727	0.1181:0.4478:0.2298:0.2043	.	1780	Q6V1P9	PCD23_HUMAN	K	1780	ENSP00000349768:E1780K	ENSP00000349768:E1780K	E	-	1	0	DCHS2	155400233	0.915000	0.31059	0.096000	0.21009	0.727000	0.41649	0.072000	0.14617	-0.113000	0.11958	0.655000	0.94253	GAG	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	C	NM_001142552		155180783	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.656	T
DENND1A	57706	genome.wustl.edu	37	9	126150025	126150025	+	Intron	SNP	A	A	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr9:126150025A>G	ENST00000373624.2	-	21	1779				DENND1A_ENST00000394219.3_Missense_Mutation_p.S532P|DENND1A_ENST00000542603.1_Missense_Mutation_p.S306P|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGGGAGCGGAGAAGAAAAAG	0.587																																																	0																																										SO:0001627	intron_variant	57706			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1578-3833T>C	9.37:g.126150025A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S532P	ENST00000373624.2	37	c.1594	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567951	0.86439	.	.	ENSG00000119522	ENST00000542603;ENST00000394219	T;T	0.26518	1.73;3.05	5.5	5.5	0.81552	.	.	.	.	.	T	0.47673	0.1458	.	.	.	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.66979	0.948;0.948;0.889	T	0.34976	-0.9807	8	0.33141	T	0.24	.	15.9091	0.79456	1.0:0.0:0.0:0.0	.	532;522;384	Q8TEH3-6;Q8TEH3-7;Q9HCG4	.;.;.	P	306;532	ENSP00000437457:S306P;ENSP00000377766:S532P	ENSP00000377766:S532P	S	-	1	0	DENND1A	125189846	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.487000	0.90454	2.209000	0.71365	0.533000	0.62120	TCC	DENND1A	-	NULL		0.587	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	A	NM_024820		126150025	-1	no_errors	ENST00000394219	ensembl	human	known	70_37	missense	SNP	1.000	G
DHX36	170506	genome.wustl.edu	37	3	154018864	154018864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:154018864G>A	ENST00000496811.1	-	10	1350	c.1270C>T	c.(1270-1272)Caa>Taa	p.Q424*	DHX36_ENST00000329463.5_Nonsense_Mutation_p.Q424*|DHX36_ENST00000308361.6_Nonsense_Mutation_p.Q424*|DHX36_ENST00000544526.1_Nonsense_Mutation_p.Q424*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	424					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACATGCCCTTGCATGAAACCC	0.328																																																	0													96.0	100.0	99.0					3																	154018864		2203	4300	6503	SO:0001587	stop_gained	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1270C>T	3.37:g.154018864G>A	ENSP00000417078:p.Gln424*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB00|Q70JU3|Q8IYE5|Q9P240	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q424*	ENST00000496811.1	37	c.1270	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.882374	0.98542	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.	.	.	5.73	5.73	0.89815	.	0.096778	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	.	.	.	X	424;424;424;424;338	.	ENSP00000309296:Q424X	Q	-	1	0	DHX36	155501558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.965000	0.87945	2.712000	0.92718	0.557000	0.71058	CAA	DHX36	-	NULL		0.328	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	G	NM_020865		154018864	-1	no_errors	ENST00000496811	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38919178	38919178	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:38919178C>G	ENST00000359357.3	+	80	11936	c.11682C>G	c.(11680-11682)atC>atG	p.I3894M	DNAH8_ENST00000449981.2_Missense_Mutation_p.I4111M|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3858M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3894	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACCAGTTATCTTAAATCTGG	0.418																																																	0													177.0	188.0	185.0					6																	38919178		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11682C>G	6.37:g.38919178C>G	ENSP00000352312:p.Ile3894Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I3894M	ENST00000359357.3	37	c.11682		6	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243916	0.58995	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08282	3.11;3.11;3.11	5.6	5.6	0.85130	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.70275	2.135	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.00444	-1.1735	10	0.45353	T	0.12	.	8.0653	0.30657	0.1499:0.7414:0.0:0.1087	.	3858;3894	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	M	4099;4099;3894;3858	ENSP00000333363:I4099M;ENSP00000352312:I3894M;ENSP00000402294:I3858M	ENSP00000333363:I4099M	I	+	3	3	DNAH8	39027156	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	0.947000	0.29082	2.791000	0.96007	0.655000	0.94253	ATC	DNAH8	-	pfam_Dynein_heavy_dom		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38919178	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF3G	8666	genome.wustl.edu	37	19	10230374	10230374	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:10230374G>A	ENST00000253108.4	-	2	65	c.23C>T	c.(22-24)tCg>tTg	p.S8L	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			ACTGGGCTTCGAACTGCGGAA	0.637											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(124;1100 1638 3822 4510 4876)												0													63.0	64.0	64.0					19																	10230374		2203	4300	6503	SO:0001583	missense	8666			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"""RNA binding motif (RRM) containing"""	3274	protein-coding gene	gene with protein product		603913	"""eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"""	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.23C>T	19.37:g.10230374G>A	ENSP00000253108:p.Ser8Leu	Somatic	663	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.S8L	ENST00000253108.4	37	c.23	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114168	0.56398	.	.	ENSG00000130811	ENST00000253108	T	0.13778	2.56	4.98	4.98	0.66077	.	0.138311	0.49916	D	0.000121	T	0.18964	0.0455	N	0.08118	0	0.58432	D	0.999998	D;D;B	0.89917	1.0;1.0;0.043	D;D;B	0.87578	0.998;0.988;0.007	T	0.23940	-1.0174	10	0.36615	T	0.2	-11.2524	15.7745	0.78204	0.0:0.0:1.0:0.0	.	8;8;8	B4DK39;B0AZV5;O75821	.;.;EIF3G_HUMAN	L	8	ENSP00000253108:S8L	ENSP00000253108:S8L	S	-	2	0	EIF3G	10091374	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.526000	0.81920	2.587000	0.87381	0.491000	0.48974	TCG	EIF3G	-	pirsf_Transl_init_eIF-3_G		0.637	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	G			10230374	-1	no_errors	ENST00000253108	ensembl	human	known	70_37	missense	SNP	1.000	A
SH3PXD2B	285590	genome.wustl.edu	37	5	171866677	171866677	+	Intron	SNP	T	T	C	rs371593339|rs376203422		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:171866677T>C	ENST00000311601.5	-	1	246				AC011407.1_ENST00000401308.1_RNA|SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B						adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTGTGTGCGTGCGTGCGCGc	0.517																																																	0																																										SO:0001627	intron_variant	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.75+14604A>G	5.37:g.171866677T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B6F0V2|Q9P2Q1	RNA	SNP	-	NULL	ENST00000311601.5	37	NULL	CCDS34291.1	5																																																																																			AC011407.1	-	-		0.517	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216127	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000372449.1	T	NM_017963		171866677	-1	no_errors	ENST00000401308	ensembl	human	novel	70_37	rna	SNP	0.000	C
RP6-206I17.1	0	genome.wustl.edu	37	1	143744596	143744596	+	lincRNA	SNP	C	C	T	rs61823128		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:143744596C>T	ENST00000445753.1	-	0	0																											CTCACTTTCTCCTTCCCCCGC	0.687																																																	0																																												0																															1.37:g.143744596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000445753.1	37	NULL		1																																																																																			BX284650.1	-	-		0.687	RP6-206I17.1-001	KNOWN	basic	lincRNA	ENSG00000223804	Clone_based_vega_gene	lincRNA	OTTHUMT00000037956.1	C			143744596	-1	no_errors	ENST00000440862	ensembl	human	known	70_37	rna	SNP	1.000	T
POT1-AS1	401398	genome.wustl.edu	37	7	124783047	124783047	+	RNA	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:124783047C>A	ENST00000453342.1	+	0	1679				RP11-3B12.1_ENST00000449642.1_RNA|RP11-3B12.1_ENST00000435452.2_RNA																							tttgcatcagcctaaTATAAG	0.323																																																	0																																												0																															7.37:g.124783047C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000453342.1	37	NULL		7																																																																																			RP11-3B12.1	-	-		0.323	RP11-3B12.1-002	KNOWN	basic	antisense	ENSG00000224897	Clone_based_vega_gene	antisense	OTTHUMT00000347736.1	C			124783047	+1	no_errors	ENST00000449642	ensembl	human	known	70_37	rna	SNP	0.059	A
MBD3	53615	genome.wustl.edu	37	19	1574848	1574848	+	IGR	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:1574848G>A	ENST00000434436.3	-	0	2498				AC005943.5_ENST00000588960.1_lincRNA	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3						ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCGGTGGCGAGTGTGTGCG	0.647																																																	0																																										SO:0001628	intergenic_variant	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983			19.37:g.1574848G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	RNA	SNP	-	NULL	ENST00000434436.3	37	NULL	CCDS12072.1	19																																																																																			AC005943.5	-	-		0.647	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267161	Clone_based_vega_gene	protein_coding	OTTHUMT00000449658.2	G	NM_003926		1574848	-1	no_errors	ENST00000588960	ensembl	human	known	70_37	rna	SNP	0.006	A
EPRS	2058	genome.wustl.edu	37	1	220151900	220151900	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:220151900G>T	ENST00000366923.3	-	28	4340	c.4071C>A	c.(4069-4071)caC>caA	p.H1357Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1357	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGAGCTCCCAGTGATTGAATT	0.368																																																	0													81.0	78.0	79.0					1																	220151900		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4071C>A	1.37:g.220151900G>T	ENSP00000355890:p.His1357Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.H1357Q	ENST00000366923.3	37	c.4071	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804732	0.70682	.	.	ENSG00000136628	ENST00000366923	T	0.40476	1.03	5.83	3.65	0.41850	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.58428	1.81	0.51482	D	0.999929	D	0.89917	1.0	D	0.87578	0.998	T	0.59150	-0.7508	10	0.87932	D	0	-22.9917	9.3273	0.38001	0.2524:0.0:0.7476:0.0	.	1357	P07814	SYEP_HUMAN	Q	1357	ENSP00000355890:H1357Q	ENSP00000355890:H1357Q	H	-	3	2	EPRS	218218523	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.359000	0.44142	1.476000	0.48215	-0.218000	0.12543	CAC	EPRS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Pro-tRNA-ligase_IIa_arc-type		0.368	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220151900	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	T
EPRS	2058	genome.wustl.edu	37	1	220197645	220197645	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:220197645C>T	ENST00000366923.3	-	8	1173	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	302	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TGCTCACGTTCTGCTTTCATC	0.348																																																	0													112.0	99.0	103.0					1																	220197645		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.904G>A	1.37:g.220197645C>T	ENSP00000355890:p.Glu302Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.E302K	ENST00000366923.3	37	c.904	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313650	0.81358	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.22743	1.94	5.38	5.38	0.77491	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.79475	2.455	0.80722	D	1	B;B;B;B	0.33022	0.234;0.243;0.005;0.394	B;P;B;B	0.44359	0.171;0.447;0.17;0.375	T	0.36720	-0.9736	10	0.87932	D	0	-23.2665	19.5538	0.95333	0.0:1.0:0.0:0.0	.	326;302;302;302	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	K	302;302;326	ENSP00000355890:E302K	ENSP00000355890:E302K	E	-	1	0	EPRS	218264268	1.000000	0.71417	0.953000	0.39169	0.598000	0.36846	7.522000	0.81844	2.705000	0.92388	0.479000	0.44913	GAA	EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk		0.348	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	C	NM_004446		220197645	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM13C	220965	genome.wustl.edu	37	10	61028333	61028333	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:61028333C>G	ENST00000373868.2	-	8	1009	c.922G>C	c.(922-924)Gaa>Caa	p.E308Q	FAM13C_ENST00000422313.2_Missense_Mutation_p.E308Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.E329Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.E308Q|FAM13C_ENST00000373867.3_Missense_Mutation_p.E225Q|FAM13C_ENST00000419214.2_Missense_Mutation_p.E308Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.E225Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.E329Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	308										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTTTCTTGTTCAAATTTTTCT	0.493																																																	0													91.0	90.0	90.0					10																	61028333		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.922G>C	10.37:g.61028333C>G	ENSP00000362975:p.Glu308Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.E308Q	ENST00000373868.2	37	c.922	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038348	0.93630	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;0.29;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.88880	0.6557	M	0.74881	2.28	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	D	0.87960	0.2729	10	0.62326	D	0.03	-23.4663	20.8794	0.99867	0.0:1.0:0.0:0.0	.	308;225;308;308;308	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	Q	225;308;329;329;308;225;308;308;86	ENSP00000362974:E225Q;ENSP00000362975:E308Q;ENSP00000395661:E329Q;ENSP00000277705:E329Q;ENSP00000391993:E308Q;ENSP00000423896:E225Q;ENSP00000392302:E308Q;ENSP00000400241:E308Q;ENSP00000445068:E86Q	ENSP00000277705:E329Q	E	-	1	0	FAM13C	60698339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.869000	0.75521	2.941000	0.99782	0.655000	0.94253	GAA	FAM13C	-	NULL		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	C			61028333	-1	no_errors	ENST00000373868	ensembl	human	known	70_37	missense	SNP	1.000	G
FAT1	2195	genome.wustl.edu	37	4	187531024	187531025	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:187531024_187531025delAG	ENST00000441802.2	-	15	10207_10208	c.9998_9999delCT	c.(9997-9999)cctfs	p.P3333fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3333	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTGAACACAGGGGTATTATC	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0																																										SO:0001589	frameshift_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9998_9999delCT	4.37:g.187531024_187531025delAG	ENSP00000406229:p.Pro3333fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P3333fs	ENST00000441802.2	37	c.9999_9998	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	AG	NM_005245		187531025	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	frame_shift_del	DEL	0.024:1.000	-
FBXL13	222235	genome.wustl.edu	37	7	102604086	102604086	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:102604086C>T	ENST00000313221.4	-	8	1044	c.618G>A	c.(616-618)gtG>gtA	p.V206V	FBXL13_ENST00000379306.3_Silent_p.V206V|FBXL13_ENST00000379305.3_Silent_p.V206V|FBXL13_ENST00000393772.2_Silent_p.V206V|FBXL13_ENST00000455112.2_Silent_p.V206V|FBXL13_ENST00000456695.1_Silent_p.V206V|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000436908.1_Silent_p.V206V|FBXL13_ENST00000379308.3_Silent_p.V206V	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	206										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TATCTGGAATCACATTTTTCA	0.323																																																	0													64.0	68.0	67.0					7																	102604086		2203	4300	6503	SO:0001819	synonymous_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.618G>A	7.37:g.102604086C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.V206	ENST00000313221.4	37	c.618	CCDS5726.1	7																																																																																			FBXL13	-	NULL		0.323	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	C	NM_145032		102604086	-1	no_errors	ENST00000313221	ensembl	human	known	70_37	silent	SNP	0.000	T
FBXL20	84961	genome.wustl.edu	37	17	37557641	37557641	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:37557641C>T	ENST00000264658.6	-	1	275	c.15G>A	c.(13-15)gtG>gtA	p.V5V	FBXL20_ENST00000394294.3_Silent_p.V5V|FBXL20_ENST00000583610.1_Silent_p.V5V|FBXL20_ENST00000577399.1_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	5					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCACTCCGTTCACGTCCCTCC	0.731																																																	0													42.0	29.0	33.0					17																	37557641		2200	4296	6496	SO:0001819	synonymous_variant	84961			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.15G>A	17.37:g.37557641C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K729|Q38J52	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.V5	ENST00000264658.6	37	c.15	CCDS32640.1	17																																																																																			FBXL20	-	NULL		0.731	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	C	NM_032875		37557641	-1	no_errors	ENST00000264658	ensembl	human	known	70_37	silent	SNP	1.000	T
FCGR2A	2212	genome.wustl.edu	37	1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	rs141094947	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527													T|||	16	0.00319489	0.0076	0.0014	5008	,	,		20399	0.0		0.001	False		,,,				2504	0.0041																0													112.0	95.0	101.0					1																	161479832		2203	4300	6503	SO:0001583	missense	2212			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.587T>A	1.37:g.161479832T>A	ENSP00000271450:p.Phe196Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUN1|Q8WW64	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F196Y	ENST00000271450.6	37	c.587	CCDS44264.1	1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565357	0.00903	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.12255	2.7;2.7	2.66	0.29	0.15728	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	17.507600	0.00166	N	0.000000	T	0.00815	0.0027	N	0.01257	-0.925	0.22142	N	0.999332	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34675	-0.9819	9	0.02654	T	1	.	2.2063	0.03936	0.5991:0.0:0.1472:0.2537	.	196;195	P12318;P12318-2	FCG2A_HUMAN;.	Y	195;196	ENSP00000356949:F195Y;ENSP00000271450:F196Y	ENSP00000271450:F196Y	F	+	2	0	FCGR2A	159746456	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.448000	0.21726	0.033000	0.15463	-0.390000	0.06520	TTC	FCGR2A	-	smart_Ig_sub,pfscan_Ig-like		0.527	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	T	NM_021642		161479832	+1	no_errors	ENST00000271450	ensembl	human	known	70_37	missense	SNP	0.000	A
FOLH1	2346	genome.wustl.edu	37	11	49204790	49204790	+	Silent	SNP	A	A	G	rs76509850	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61.0	61.0	61.0					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	A	NM_004476		49204790	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	1.000	G
GBF1	8729	genome.wustl.edu	37	10	104123068	104123068	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr10:104123068C>T	ENST00000369983.3	+	16	2189	c.1929C>T	c.(1927-1929)ggC>ggT	p.G643G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	643					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACATCCCAGGCCTGCATCTGC	0.547																																																	0													91.0	92.0	92.0					10																	104123068		2203	4300	6503	SO:0001819	synonymous_variant	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1929C>T	10.37:g.104123068C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.G643	ENST00000369983.3	37	c.1929	CCDS7533.1	10																																																																																			GBF1	-	NULL		0.547	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	C			104123068	+1	no_errors	ENST00000369983	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR133	283383	genome.wustl.edu	37	12	131487803	131487803	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:131487803G>C	ENST00000261654.5	+	10	1659	c.1100G>C	c.(1099-1101)gGc>gCc	p.G367A	GPR133_ENST00000376682.4_Missense_Mutation_p.G53A|GPR133_ENST00000535015.1_Missense_Mutation_p.G399A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	367					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AACCTGCACGGCAGCACGCCC	0.632																																																	0													119.0	98.0	105.0					12																	131487803		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1100G>C	12.37:g.131487803G>C	ENSP00000261654:p.Gly367Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G367A	ENST00000261654.5	37	c.1100	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	G	0.119	-1.128311	0.01770	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.38887	1.14;1.14;1.11	4.88	2.05	0.26809	.	2.393500	0.01240	N	0.008593	T	0.15478	0.0373	N	0.00841	-1.15	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.27123	-1.0083	10	0.12430	T	0.62	.	5.1019	0.14764	0.0:0.6339:0.1744:0.1917	.	399;367	B7ZLF7;Q6QNK2	.;GP133_HUMAN	A	367;399;58;63;53	ENSP00000261654:G367A;ENSP00000444425:G399A;ENSP00000365872:G53A	ENSP00000261654:G367A	G	+	2	0	GPR133	130053756	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.237000	0.17985	0.220000	0.20860	-0.306000	0.09157	GGC	GPR133	-	NULL		0.632	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	G	NM_198827		131487803	+1	no_errors	ENST00000261654	ensembl	human	known	70_37	missense	SNP	0.002	C
HTR1A	3350	genome.wustl.edu	37	5	63257121	63257121	+	Silent	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:63257121G>A	ENST00000323865.3	-	1	659	c.426C>T	c.(424-426)atC>atT	p.I142I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	142					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCACGTAGTCGATGGGGTCCG	0.632																																																	0													77.0	78.0	78.0					5																	63257121		2203	4300	6503	SO:0001819	synonymous_variant	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.426C>T	5.37:g.63257121G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.I142	ENST00000323865.3	37	c.426	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63257121	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	silent	SNP	0.707	A
HTR1D	3352	genome.wustl.edu	37	1	23520071	23520071	+	Silent	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:23520071G>A	ENST00000374619.1	-	1	1151	c.642C>T	c.(640-642)atC>atT	p.I214I	HTR1D_ENST00000314113.3_Silent_p.I214I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577																																																	0													62.0	66.0	65.0					1																	23520071		2203	4300	6503	SO:0001819	synonymous_variant	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.642C>T	1.37:g.23520071G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.I214	ENST00000374619.1	37	c.642	CCDS231.1	1																																																																																			HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	G	NM_000864		23520071	-1	no_errors	ENST00000314113	ensembl	human	known	70_37	silent	SNP	0.992	A
ITPR1	3708	genome.wustl.edu	37	3	4753522	4753522	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:4753522G>T	ENST00000443694.2	+	36	5028	c.5028G>T	c.(5026-5028)atG>atT	p.M1676I	ITPR1_ENST00000456211.2_Missense_Mutation_p.M1667I|ITPR1_ENST00000423119.2_Missense_Mutation_p.M1682I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M1682I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.M1676I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M1691I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1691					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAGGGAAATGATGACCAAAG	0.408																																																	0													65.0	69.0	67.0					3																	4753522		1837	4052	5889	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5028G>T	3.37:g.4753522G>T	ENSP00000401671:p.Met1676Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1676I	ENST00000443694.2	37	c.5028	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978233	0.92982	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;T;T;T;D	0.94931	-3.54;-3.56;0.17;0.17;0.17;-3.54	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97365	0.9138	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.997;0.966	D;P	0.75020	0.985;0.805	D	0.97549	1.0091	10	0.72032	D	0.01	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	1691;1682	Q14643;G5E9P1	ITPR1_HUMAN;.	I	1691;1676;1691;1682;137;1682;1667;1676	ENSP00000306253:M1676I;ENSP00000346595:M1691I;ENSP00000405934:M1682I;ENSP00000349597:M1682I;ENSP00000397885:M1667I;ENSP00000401671:M1676I	ENSP00000306253:M1676I	M	+	3	0	ITPR1	4728522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.745000	0.98856	2.689000	0.91719	0.655000	0.94253	ATG	ITPR1	-	NULL		0.408	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4753522	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM5A	5927	genome.wustl.edu	37	12	463280	463280	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:463280G>T	ENST00000399788.2	-	8	1353	c.991C>A	c.(991-993)Ccc>Acc	p.P331T	KDM5A_ENST00000382815.4_Missense_Mutation_p.P331T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	331					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTCCTTTGGGCACATCAGGT	0.398			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													143.0	137.0	139.0					12																	463280		1927	4143	6070	SO:0001583	missense	5927				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.991C>A	12.37:g.463280G>T	ENSP00000382688:p.Pro331Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.P331T	ENST00000399788.2	37	c.991	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768973	0.90020	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.89485	-2.52;-2.52	5.1	5.1	0.69264	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.053399	0.85682	D	0.000000	D	0.97025	0.9028	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98652	1.0680	10	0.87932	D	0	-8.3347	18.8719	0.92319	0.0:0.0:1.0:0.0	.	331;331;331	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	290;331;331	ENSP00000382688:P331T;ENSP00000372265:P331T	ENSP00000372265:P331T	P	-	1	0	KDM5A	333541	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.530000	0.85305	0.467000	0.42956	CCC	KDM5A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	G	NM_005056		463280	-1	no_errors	ENST00000399788	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0556	23247	genome.wustl.edu	37	16	27643924	27643924	+	Intron	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:27643924G>T	ENST00000261588.4	+	5	427				KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556							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						accactccatggtcagtggtc	0.557																																																	0																																										SO:0001627	intron_variant	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.408+1441G>T	16.37:g.27643924G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C2	RNA	SNP	-	NULL	ENST00000261588.4	37	NULL	CCDS32415.1	16																																																																																			KIAA0556	-	-		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27643924	+1	no_errors	ENST00000567894	ensembl	human	known	70_37	rna	SNP	0.148	T
KRT84	3890	genome.wustl.edu	37	12	52771916	52771916	+	Missense_Mutation	SNP	G	G	A	rs368100864		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:52771916G>A	ENST00000257951.3	-	9	1771	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	569	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGGGCAGGGGGCAGGGGACG	0.697													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14495	0.0		0.0	False		,,,				2504	0.0																0								G	SER/PRO	2,4368		0,2,2183	10.0	12.0	12.0		1705	0.6	1.0	12		12	0,8540		0,0,4270	no	missense	KRT84	NM_033045.3	74	0,2,6453	AA,AG,GG		0.0,0.0458,0.0155	benign	569/601	52771916	2,12908	2185	4270	6455	SO:0001583	missense	3890			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1705C>T	12.37:g.52771916G>A	ENSP00000257951:p.Pro569Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.P569S	ENST00000257951.3	37	c.1705	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613363	0.28712	4.58E-4	0.0	ENSG00000161849	ENST00000257951	T	0.79653	-1.29	3.75	0.571	0.17352	.	0.253264	0.20849	N	0.084580	T	0.56992	0.2023	N	0.08118	0	0.23464	N	0.997628	B	0.22003	0.063	B	0.19946	0.027	T	0.43702	-0.9375	10	0.30078	T	0.28	.	6.0898	0.19989	0.0:0.1888:0.4727:0.3385	.	569	Q9NSB2	KRT84_HUMAN	S	569	ENSP00000257951:P569S	ENSP00000257951:P569S	P	-	1	0	KRT84	51058183	0.808000	0.29022	0.982000	0.44146	0.712000	0.41017	0.392000	0.20801	0.007000	0.14760	0.462000	0.41574	CCC	KRT84	-	NULL		0.697	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	G	NM_033045		52771916	-1	no_errors	ENST00000257951	ensembl	human	known	70_37	missense	SNP	0.968	A
KRTAP1-3	81850	genome.wustl.edu	37	17	39190812	39190812	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:39190812C>A	ENST00000344363.5	-	1	295	c.262G>T	c.(262-264)Ggt>Tgt	p.G88C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	98			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ATGCCACCACCAATGCCACAG	0.647																																																	0													24.0	28.0	27.0					17																	39190812		1991	4166	6157	SO:0001583	missense	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.262G>T	17.37:g.39190812C>A	ENSP00000344420:p.Gly88Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.G88C	ENST00000344363.5	37	c.262	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433328	0.25813	.	.	ENSG00000221880	ENST00000344363	T	0.44482	0.92	4.19	2.18	0.27775	.	.	.	.	.	T	0.51483	0.1677	.	.	.	0.25146	N	0.990464	D	0.67145	0.996	P	0.61397	0.888	T	0.32268	-0.9913	8	0.44086	T	0.13	.	6.5272	0.22307	0.0:0.7775:0.0:0.2225	.	98	Q8IUG1	KRA13_HUMAN	C	88	ENSP00000344420:G88C	ENSP00000344420:G88C	G	-	1	0	KRTAP1-3	36444338	0.830000	0.29337	0.021000	0.16686	0.071000	0.16799	-0.592000	0.05747	0.526000	0.28541	0.655000	0.94253	GGT	KRTAP1-3	-	pfam_Keratin-assoc		0.647	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	C			39190812	-1	no_errors	ENST00000344363	ensembl	human	known	70_37	missense	SNP	0.514	A
KRTAP1-3	81850	genome.wustl.edu	37	17	39190875	39190875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:39190875C>A	ENST00000344363.5	-	1	232	c.199G>T	c.(199-201)Gag>Tag	p.E67*		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	77			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.	GFPSFSTSGTCSS -> DFLASQLVDLQL (in Ref. 1). {ECO:0000305}.		keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.E67Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											30.0	35.0	33.0					17																	39190875		1980	4162	6142	SO:0001587	stop_gained	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.199G>T	17.37:g.39190875C>A	ENSP00000344420:p.Glu67*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q07628|Q8IUG0|Q9BYS2	Nonsense_Mutation	SNP	pfam_Keratin-assoc	p.E67*	ENST00000344363.5	37	c.199	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040072	0.35989	.	.	ENSG00000221880	ENST00000344363	.	.	.	3.48	-5.07	0.02938	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	8.6903	0.34262	0.0:0.5354:0.201:0.2637	.	.	.	.	X	67	.	ENSP00000344420:E67X	E	-	1	0	KRTAP1-3	36444401	0.750000	0.28316	0.000000	0.03702	0.179000	0.23085	-0.001000	0.12947	-0.956000	0.03631	-0.436000	0.05848	GAG	KRTAP1-3	-	pfam_Keratin-assoc		0.617	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	C			39190875	-1	no_errors	ENST00000344363	ensembl	human	known	70_37	nonsense	SNP	0.000	A
LAMTOR4	389541	genome.wustl.edu	37	7	99746570	99746570	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:99746570G>A	ENST00000341942.5	+	0	41				LAMTOR4_ENST00000441173.1_5'UTR	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4						cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											ATCTGGTAGGGAGCTCCCCCA	0.652																																																	0													82.0	81.0	81.0					7																	99746570		2203	4300	6503	SO:0001623	5_prime_UTR_variant	389541				CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.-26G>A	7.37:g.99746570G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000341942.5	37	NULL	CCDS34702.1	7																																																																																			LAMTOR4	-	-		0.652	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR4	HGNC	protein_coding	OTTHUMT00000337373.2	G	NM_001008395		99746570	+1	no_errors	ENST00000460732	ensembl	human	known	70_37	rna	SNP	0.000	A
LNX2	222484	genome.wustl.edu	37	13	28122595	28122595	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr13:28122595C>G	ENST00000316334.3	-	10	2079	c.1950G>C	c.(1948-1950)atG>atC	p.M650I		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	650	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CGGCCACAATCATGTCACCAC	0.423																																																	0													95.0	78.0	84.0					13																	28122595		2203	4300	6503	SO:0001583	missense	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1950G>C	13.37:g.28122595C>G	ENSP00000325929:p.Met650Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.M650I	ENST00000316334.3	37	c.1950	CCDS9323.1	13	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774864	0.31411	.	.	ENSG00000139517	ENST00000316334	T	0.25579	1.79	5.98	5.98	0.97165	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.00510	-1.415	0.80722	D	1	B	0.11235	0.004	B	0.18871	0.023	T	0.39418	-0.9615	10	0.12766	T	0.61	.	20.4379	0.99098	0.0:1.0:0.0:0.0	.	650	Q8N448	LNX2_HUMAN	I	650	ENSP00000325929:M650I	ENSP00000325929:M650I	M	-	3	0	LNX2	27020595	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	7.818000	0.86416	2.838000	0.97847	0.585000	0.79938	ATG	LNX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.423	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	C			28122595	-1	no_errors	ENST00000316334	ensembl	human	known	70_37	missense	SNP	1.000	G
LPXN	9404	genome.wustl.edu	37	11	58322403	58322403	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:58322403C>T	ENST00000395074.2	-	4	317	c.229G>A	c.(229-231)Gag>Aag	p.E77K	LPXN_ENST00000528954.1_Missense_Mutation_p.E82K|LPXN_ENST00000528489.1_Missense_Mutation_p.E57K	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	77					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCCTTTGGCTCTTGGGCTTCA	0.428																																																	0													156.0	146.0	149.0					11																	58322403		2201	4295	6496	SO:0001583	missense	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.229G>A	11.37:g.58322403C>T	ENSP00000378512:p.Glu77Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.E82K	ENST00000395074.2	37	c.244	CCDS7969.1	11	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604670	0.28623	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.32023	1.47;1.48	5.44	2.57	0.30868	.	0.164677	0.40469	N	0.001084	T	0.27241	0.0668	M	0.73598	2.24	0.26451	N	0.975614	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37291	-0.9712	10	0.08381	T	0.77	.	7.9455	0.29985	0.0:0.7415:0.0:0.2585	.	57;82;77	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	K	82;77	ENSP00000431284:E82K;ENSP00000378512:E77K	ENSP00000378512:E77K	E	-	1	0	LPXN	58078979	0.000000	0.05858	0.818000	0.32626	0.209000	0.24338	0.331000	0.19733	0.367000	0.24454	0.563000	0.77884	GAG	LPXN	-	pirsf_Leupaxin		0.428	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	C	NM_004811		58322403	-1	no_errors	ENST00000528954	ensembl	human	known	70_37	missense	SNP	0.975	T
MAGEB17	645864	genome.wustl.edu	37	X	16189073	16189073	+	Silent	SNP	T	T	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:16189073T>C	ENST00000400004.2	+	2	920	c.568T>C	c.(568-570)Ttg>Ctg	p.L190L	RP11-431J24.2_ENST00000435789.1_RNA|MAGEB17_ENST00000329538.5_Silent_p.L190L|MAGEB17_ENST00000400003.1_Silent_p.L190L	NM_001277307.1	NP_001264236.1	A8MXT2	MAGBH_HUMAN	melanoma antigen family B, 17	190	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.																TCAAGGAAGCTTGAGCGATGG	0.562																																																	0																																										SO:0001819	synonymous_variant	645864				CCDS59524.1	Xp22.2	2010-05-26	2005-11-07		ENSG00000182798	ENSG00000182798			17418	protein-coding gene	gene with protein product		300763	"""melanoma antigen family B, 17 (pseudogene)"""			11454705	Standard	NM_001277307		Approved		uc031tgu.1	A8MXT2	OTTHUMG00000021188	ENST00000400004.2:c.568T>C	X.37:g.16189073T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE98	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L190	ENST00000400004.2	37	c.568	CCDS59524.1	X																																																																																			MAGEB17	-	pfam_MAGE,pfscan_MAGE		0.562	MAGEB17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB17	HGNC	protein_coding	OTTHUMT00000251018.2	T	XM_066701		16189073	+1	no_errors	ENST00000400003	ensembl	human	known	70_37	silent	SNP	0.000	C
MT-ND2	4536	genome.wustl.edu	37	M	1747	1747	+	5'Flank	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrM:1747G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						AAATAAAGTATAGGCGATAGA	0.403																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1747G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.403	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		G	YP_003024027		1747	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	A
MPO	4353	genome.wustl.edu	37	17	56349079	56349079	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:56349079C>T	ENST00000225275.3	-	11	2143	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	MPO_ENST00000340482.3_Missense_Mutation_p.R688H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	656					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGGGCCCACGCGGCCTTTGCG	0.627																																																	0													62.0	47.0	52.0					17																	56349079		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1967G>A	17.37:g.56349079C>T	ENSP00000225275:p.Arg656His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R688H	ENST00000225275.3	37	c.2063	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191982	0.78902	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73897	-0.79;-0.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91474	0.5199	10	0.87932	D	0	-12.3872	18.2607	0.90034	0.0:1.0:0.0:0.0	.	656	P05164	PERM_HUMAN	H	688;656	ENSP00000344419:R688H;ENSP00000225275:R656H	ENSP00000225275:R656H	R	-	2	0	MPO	53704078	1.000000	0.71417	0.961000	0.40146	0.100000	0.18952	7.797000	0.85911	2.561000	0.86390	0.563000	0.77884	CGC	MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	C			56349079	-1	no_errors	ENST00000340482	ensembl	human	known	70_37	missense	SNP	1.000	T
MT-CO2	4513	genome.wustl.edu	37	M	7637	7637	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrM:7637G>A	ENST00000361739.1	+	1	52	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TD_ENST00000387419.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	18					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						CCCCTATCATAGAAGAGCTTA	0.378																																																	0																																										SO:0001583	missense	4513					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.52G>A	M.37:g.7637G>A	ENSP00000354876:p.Glu18Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.E18K	ENST00000361739.1	37	c.52		MT																																																																																			MT-CO2	-	pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2-like_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2		0.378	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		G	YP_003024029		7637	+1	no_errors	ENST00000361739	ensembl	human	known	70_37	missense	SNP	NULL	A
MUC12	10071	genome.wustl.edu	37	7	100635238	100635238	+	Missense_Mutation	SNP	C	C	T	rs12533349		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:100635238C>T	ENST00000379442.3	+	5	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	MUC12_ENST00000536621.1_Missense_Mutation_p.S465L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	608	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GTTGGAGACTCGACGCCCTCA	0.527																																																	0													258.0	294.0	283.0					7																	100635238		692	1591	2283	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.1823C>T	7.37:g.100635238C>T	ENSP00000368755:p.Ser608Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S608L	ENST00000379442.3	37	c.1823		7	.	.	.	.	.	.	.	.	.	.	C	3.911	-0.020115	0.07634	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.695	-1.27	0.09347	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43589	-0.9382	7	0.20519	T	0.43	.	5.3812	0.16192	0.3261:0.6739:0.0:0.0	.	.	.	.	L	608;465	ENSP00000368755:S608L;ENSP00000441929:S465L	ENSP00000368755:S608L	S	+	2	0	MUC12	100421958	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	-0.331000	0.08501	0.162000	0.16502	TCG	MUC12	-	NULL		0.527	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100635238	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100639210	100639211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:100639210_100639211insA	ENST00000379442.3	+	5	5795_5796	c.5795_5796insA	c.(5794-5799)acagctfs	p.A1933fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.A1790fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1933	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAAAGCTCCACAGCTTCAGGTC	0.525																																																	0																																										SO:0001589	frameshift_variant	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.5796dupA	7.37:g.100639211_100639211dupA	ENSP00000368755:p.Ala1933fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.A1933fs	ENST00000379442.3	37	c.5795_5796		7																																																																																			MUC12	-	NULL		0.525	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	XM_379904		100639211	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1272203	1272203	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:1272203C>G	ENST00000529681.1	+	31	14151	c.14093C>G	c.(14092-14094)tCa>tGa	p.S4698*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Nonsense_Mutation_p.S4701*	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4698	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		aacccctcctcaactccaggg	0.627																																																	0													111.0	137.0	128.0					11																	1272203		2105	4187	6292	SO:0001587	stop_gained	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14093C>G	11.37:g.1272203C>G	ENSP00000436812:p.Ser4698*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4701*	ENST00000529681.1	37	c.14102	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	53	21.248688	0.99938	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	.	.	.	1.55	-0.8	0.10897	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.3448	0.16004	0.0:0.6315:0.2134:0.1551	.	.	.	.	X	4698;4701;4642;471	.	ENSP00000343037:S4642X	S	+	2	0	MUC5B	1228779	0.781000	0.28676	0.000000	0.03702	0.012000	0.07955	2.153000	0.42282	-0.026000	0.13895	0.194000	0.17425	TCA	MUC5B	-	NULL		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1272203	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	nonsense	SNP	0.000	G
MYRIP	25924	genome.wustl.edu	37	3	40275497	40275497	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:40275497A>G	ENST00000302541.6	+	12	2395	c.2053A>G	c.(2053-2055)Aca>Gca	p.T685A	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000539167.1_Missense_Mutation_p.T498A|MYRIP_ENST00000444716.1_Missense_Mutation_p.T685A|MYRIP_ENST00000396217.3_Missense_Mutation_p.T596A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	685	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TCCTCGTGGGACAGACCAAGT	0.522																																																	0													79.0	69.0	73.0					3																	40275497		2203	4300	6503	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2053A>G	3.37:g.40275497A>G	ENSP00000301972:p.Thr685Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.T685A	ENST00000302541.6	37	c.2053	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	A	17.80	3.479310	0.63849	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000396217;ENST00000539167	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	6.06	4.91	0.64330	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.121470	0.56097	D	0.000021	T	0.27663	0.0680	L	0.39020	1.185	0.29268	N	0.87088	P;P	0.41978	0.767;0.558	B;P	0.50082	0.394;0.63	T	0.09885	-1.0654	9	.	.	.	.	7.5998	0.28069	0.8382:0.0:0.1618:0.0	.	596;685	Q32M42;Q8NFW9	.;MYRIP_HUMAN	A	685;685;596;498	ENSP00000398665:T685A;ENSP00000301972:T685A;ENSP00000379519:T596A;ENSP00000438297:T498A	.	T	+	1	0	MYRIP	40250501	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	3.042000	0.49815	1.121000	0.41925	0.533000	0.62120	ACA	MYRIP	-	pfam_Myrip/Melanophilin		0.522	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	A	NM_015460		40275497	+1	no_errors	ENST00000302541	ensembl	human	known	70_37	missense	SNP	0.995	G
NASP	4678	genome.wustl.edu	37	1	46079769	46079769	+	Splice_Site	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:46079769C>G	ENST00000350030.3	+	8	1595	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Splice_Site_p.S505C|NASP_ENST00000537798.1_Splice_Site_p.S439C|NASP_ENST00000372052.4_Splice_Site_p.S137C|NASP_ENST00000351223.3_Splice_Site_p.S164C	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	503	Glu-rich (acidic).|Histone-binding.				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATACTTTAGTCTCTTCAAGAA	0.328																																																	0													76.0	82.0	80.0					1																	46079769		2203	4300	6503	SO:0001630	splice_region_variant	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1507-1C>G	1.37:g.46079769C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S505C	ENST00000350030.3	37	c.1514	CCDS524.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.12|13.12	2.142185|2.142185	0.37825|0.37825	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000531612|ENST00000437901;ENST00000525515;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	.|D;D;D;D;D;D;D;D	.|0.94966	.|-3.53;-3.53;-3.57;-3.57;-3.53;-3.57;-3.53;-3.53	5.73|5.73	4.81|4.81	0.61882|0.61882	.|.	.|0.554792	.|0.19656	.|N	.|0.109096	D|D	0.92984|0.92984	0.7767|0.7767	L|L	0.34521|0.34521	1.04|1.04	0.36189|0.36189	D|D	0.849978|0.849978	.|D;P;D;D	.|0.67145	.|0.996;0.938;0.993;0.996	.|P;B;P;P	.|0.56216	.|0.794;0.319;0.628;0.794	D|D	0.93813|0.93813	0.7112|0.7112	5|10	.|0.87932	.|D	.|0	-0.6531|-0.6531	7.1417|7.1417	0.25560|0.25560	0.1431:0.7207:0.0:0.1362|0.1431:0.7207:0.0:0.1362	.|.	.|439;164;503;505	.|F5H3J2;Q5T626;P49321;P49321-3	.|.;.;NASP_HUMAN;.	V|C	28|164;148;439;505;403;100;503;137;164	.|ENSP00000400792:S164C;ENSP00000436939:S148C;ENSP00000438871:S439C;ENSP00000384529:S505C;ENSP00000432289:S100C;ENSP00000255120:S503C;ENSP00000361122:S137C;ENSP00000255121:S164C	.|ENSP00000345532:S403C	L|S	+|+	1|2	0|0	NASP|NASP	45852356|45852356	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.019000|0.019000	0.09904|0.09904	1.633000|1.633000	0.37113|0.37113	1.547000|1.547000	0.49401|0.49401	-0.169000|-0.169000	0.13324|0.13324	CTC|TCT	NASP	-	NULL		0.328	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	C	NM_002482	Missense_Mutation	46079769	+1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	0.995	G
NPEPPS	9520	genome.wustl.edu	37	17	45608750	45608750	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:45608750C>T	ENST00000322157.4	+	1	321	c.84C>T	c.(82-84)gtC>gtT	p.V28V	NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_5'UTR|NPEPPS_ENST00000530173.1_Intron	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	28					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						tccttctcgtcttcagccgct	0.726																																																	0													1.0	1.0	1.0					17																	45608750		463	1191	1654	SO:0001819	synonymous_variant	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.84C>T	17.37:g.45608750C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z463|Q6P145|Q9NP16|Q9UEM2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V28	ENST00000322157.4	37	c.84	CCDS45721.1	17																																																																																			NPEPPS	-	NULL		0.726	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	C	NM_006310		45608750	+1	no_errors	ENST00000322157	ensembl	human	known	70_37	silent	SNP	1.000	T
NPRL2	10641	genome.wustl.edu	37	3	50386315	50386315	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:50386315G>T	ENST00000232501.3	-	5	1013	c.575C>A	c.(574-576)aCt>aAt	p.T192N	CYB561D2_ENST00000425346.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	192					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TTGTTGTGTAGTGAGGTCCCA	0.552																																																	0													150.0	137.0	141.0					3																	50386315		2203	4300	6503	SO:0001583	missense	10641			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.575C>A	3.37:g.50386315G>T	ENSP00000232501:p.Thr192Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	pfam_NPR2	p.T192N	ENST00000232501.3	37	c.575	CCDS2826.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288276	0.80803	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89518	0.3776	9	0.72032	D	0.01	-7.8091	19.1282	0.93394	0.0:0.0:1.0:0.0	.	192	Q8WTW4	NPRL2_HUMAN	N	192	.	ENSP00000232501:T192N	T	-	2	0	NPRL2	50361319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.519000	0.84933	0.655000	0.94253	ACT	NPRL2	-	pfam_NPR2		0.552	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPRL2	HGNC	protein_coding	OTTHUMT00000346299.1	G	NM_006545		50386315	-1	no_errors	ENST00000232501	ensembl	human	known	70_37	missense	SNP	1.000	T
NTRK1	4914	genome.wustl.edu	37	1	156849868	156849868	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:156849868C>T	ENST00000524377.1	+	16	2165	c.2124C>T	c.(2122-2124)agC>agT	p.S708S	NTRK1_ENST00000368196.3_Silent_p.S702S|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Silent_p.S672S|NTRK1_ENST00000358660.3_Silent_p.S705S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCACCGAGAGCGACGTGTGGA	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													91.0	84.0	86.0					1																	156849868		2203	4300	6503	SO:0001819	synonymous_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2124C>T	1.37:g.156849868C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.S708	ENST00000524377.1	37	c.2124	CCDS1161.1	1																																																																																			NTRK1	-	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,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	C	NM_002529		156849868	+1	no_errors	ENST00000524377	ensembl	human	known	70_37	silent	SNP	0.974	T
NXPE3	91775	genome.wustl.edu	37	3	101540356	101540356	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:101540356G>A	ENST00000491511.2	+	8	2194	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	NXPE3_ENST00000477909.1_Missense_Mutation_p.R413H|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000273347.5_Missense_Mutation_p.R413H|NXPE3_ENST00000422132.1_Missense_Mutation_p.R413H	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	413						extracellular region (GO:0005576)											CCACCCATCCGCTTCACGACT	0.507																																																	0													131.0	99.0	110.0					3																	101540356		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1238G>A	3.37:g.101540356G>A	ENSP00000417485:p.Arg413His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.R413H	ENST00000491511.2	37	c.1238	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260456	0.80246	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.83	5.83	0.93111	.	0.045500	0.85682	N	0.000000	T	0.25457	0.0619	M	0.79475	2.455	0.80722	D	1	D	0.58268	0.982	B	0.41571	0.36	T	0.14587	-1.0467	10	0.16896	T	0.51	-13.1599	20.1162	0.97934	0.0:0.0:1.0:0.0	.	413	Q969Y0	FA55C_HUMAN	H	413	ENSP00000273347:R413H;ENSP00000417485:R413H;ENSP00000418369:R413H;ENSP00000396421:R413H	ENSP00000273347:R413H	R	+	2	0	FAM55C	103023046	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.974000	0.88039	2.756000	0.94617	0.655000	0.94253	CGC	NXPE3	-	NULL		0.507	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	G	NM_145037		101540356	+1	no_errors	ENST00000273347	ensembl	human	known	70_37	missense	SNP	1.000	A
OBP2B	29989	genome.wustl.edu	37	9	136083256	136083256	+	Intron	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr9:136083256C>T	ENST00000372034.3	-	3	319				OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B						chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TCCCAATCCTCAGCTTCCTCA	0.577																																																	0																																										SO:0001627	intron_variant	29989			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.277+263G>A	9.37:g.136083256C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSP6|Q9NY51|Q9NY52	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.L118	ENST00000372034.3	37	c.354	CCDS6961.1	9																																																																																			OBP2B	-	NULL		0.577	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	C	NM_014581		136083256	-1	no_errors	ENST00000473737	ensembl	human	known	70_37	silent	SNP	0.002	T
OGDH	4967	genome.wustl.edu	37	7	44736558	44736558	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:44736558G>A	ENST00000222673.5	+	15	1988	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	OGDH_ENST00000449767.1_Missense_Mutation_p.R645Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R664Q|OGDH_ENST00000439616.2_Missense_Mutation_p.R499Q|OGDH_ENST00000447398.1_Missense_Mutation_p.R660Q|OGDH_ENST00000543843.1_Missense_Mutation_p.R600Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	649					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTGAAGAACCGGACTGTGGAC	0.627																																																	0													102.0	77.0	85.0					7																	44736558		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1946G>A	7.37:g.44736558G>A	ENSP00000222673:p.Arg649Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R649Q	ENST00000222673.5	37	c.1946	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065026	0.76187	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	N	0.03608	-0.345	0.58432	D	0.999998	B;B;B;B;B;B	0.31989	0.178;0.178;0.35;0.35;0.094;0.35	B;B;B;B;B;B	0.28139	0.086;0.036;0.086;0.086;0.06;0.086	T	0.78635	-0.2127	10	0.30854	T	0.27	-25.8679	17.7956	0.88568	0.0:0.0:1.0:0.0	.	444;499;645;660;551;649	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	Q	499;645;660;664;649;600	ENSP00000398576:R499Q;ENSP00000392878:R645Q;ENSP00000388183:R660Q;ENSP00000414662:R664Q;ENSP00000222673:R649Q;ENSP00000443821:R600Q	ENSP00000222673:R649Q	R	+	2	0	OGDH	44703083	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	9.652000	0.98499	2.492000	0.84095	0.650000	0.86243	CGG	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.627	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44736558	+1	no_errors	ENST00000222673	ensembl	human	known	70_37	missense	SNP	1.000	A
OR12D3	81797	genome.wustl.edu	37	6	29342268	29342268	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:29342268G>C	ENST00000396806.3	-	1	800	c.797C>G	c.(796-798)tCc>tGc	p.S266C	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTGAATCATGGAGGTGGCTGA	0.483																																																	0													93.0	86.0	89.0					6																	29342268		1510	2707	4217	SO:0001583	missense	81797				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.797C>G	6.37:g.29342268G>C	ENSP00000380023:p.Ser266Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S266C	ENST00000396806.3	37	c.797	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	G	9.501	1.103317	0.20632	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00279	8.33	4.19	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.16897	-1.0387	9	0.87932	D	0	-6.1152	12.3559	0.55176	0.1583:0.0:0.8417:0.0	.	266	Q9UGF7	O12D3_HUMAN	C	266	ENSP00000380023:S266C	ENSP00000366348:S266C	S	-	2	0	OR12D3	29450247	0.116000	0.22171	0.001000	0.08648	0.278000	0.26855	1.670000	0.37502	0.086000	0.17137	-1.021000	0.02439	TCC	OR12D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	HGNC	protein_coding	OTTHUMT00000076056.3	G			29342268	-1	no_errors	ENST00000377143	ensembl	human	known	70_37	missense	SNP	0.000	C
OR5L2	26338	genome.wustl.edu	37	11	55595383	55595383	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr11:55595383C>T	ENST00000378397.1	+	1	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AAGATACACTCTGCAGAGAGC	0.493										HNSCC(27;0.073)																																							0													184.0	155.0	165.0					11																	55595383		2200	4296	6496	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.689C>T	11.37:g.55595383C>T	ENSP00000367650:p.Ser230Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S230F	ENST00000378397.1	37	c.689	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	11.20	1.568799	0.28003	.	.	ENSG00000205030	ENST00000378397	T	0.00340	8.04	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.01156	0.0038	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.22103	-1.0226	10	0.87932	D	0	-34.6134	12.2873	0.54798	0.0:0.9169:0.0:0.0831	.	230	Q8NGL0	OR5L2_HUMAN	F	230	ENSP00000367650:S230F	ENSP00000367650:S230F	S	+	2	0	OR5L2	55351959	0.000000	0.05858	0.770000	0.31555	0.001000	0.01503	0.986000	0.29590	2.617000	0.88574	0.632000	0.83419	TCT	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55595383	+1	no_errors	ENST00000378397	ensembl	human	known	70_37	missense	SNP	0.010	T
PANK2	80025	genome.wustl.edu	37	20	3904042	3904042	+	3'UTR	SNP	A	A	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:3904042A>T	ENST00000316562.4	+	0	1820				PANK2_ENST00000497424.1_3'UTR|PANK2_ENST00000610179.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2						aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACTACCTGAAACAAAGTGAGA	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	80025			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.*101A>T	20.37:g.3904042A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	RNA	SNP	-	NULL	ENST00000316562.4	37	NULL	CCDS13071.2	20																																																																																			PANK2	-	-		0.353	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2	A	NM_024960		3904042	+1	no_errors	ENST00000336066	ensembl	human	known	70_37	rna	SNP	0.997	T
PCDH11X	27328	genome.wustl.edu	37	X	91873933	91873933	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:91873933C>T	ENST00000373094.1	+	7	4883	c.4038C>T	c.(4036-4038)ccC>ccT	p.P1346P	PCDH11X_ENST00000406881.1_Silent_p.P1338P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.P1328P|PCDH11X_ENST00000373097.1_Silent_p.P1336P|PCDH11X_ENST00000298274.8_Silent_p.P1309P|PCDH11X_ENST00000373088.1_Silent_p.P1309P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1346					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGAACATCCCTTGTAAAGCT	0.358																																					NSCLC(38;925 1092 2571 38200 45895)												0													76.0	75.0	76.0					X																	91873933		2203	4299	6502	SO:0001819	synonymous_variant	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.4038C>T	X.37:g.91873933C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1346	ENST00000373094.1	37	c.4038	CCDS14461.1	X																																																																																			PCDH11X	-	NULL		0.358	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91873933	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	silent	SNP	0.861	T
PCDHB13	56123	genome.wustl.edu	37	5	140594526	140594526	+	Silent	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:140594526G>A	ENST00000341948.4	+	1	1018	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	277	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAACGGAGAGATTTCCTATT	0.443																																																	0													132.0	132.0	132.0					5																	140594526		2203	4300	6503	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.831G>A	5.37:g.140594526G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E277	ENST00000341948.4	37	c.831	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.443	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	G	NM_018933		140594526	+1	no_errors	ENST00000341948	ensembl	human	known	70_37	silent	SNP	0.000	A
PCSK6	5046	genome.wustl.edu	37	15	101872158	101872158	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr15:101872158C>T	ENST00000348070.1	-	15	1933	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R645H|RP11-299G20.3_ENST00000558696.1_RNA	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	646					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCCGCGAGCGGGACTGATG	0.577																																																	0													51.0	54.0	53.0					15																	101872158		2028	4187	6215	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1934G>A	15.37:g.101872158C>T	ENSP00000305056:p.Arg645His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.R645H	ENST00000348070.1	37	c.1934		15	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741281	0.89573	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T;T	0.68624	-0.09;-0.1;-0.34	5.82	5.82	0.92795	.	0.054877	0.64402	D	0.000001	T	0.79417	0.4442	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.99;1.0;0.999;1.0	P;P;D;D;D	0.83275	0.873;0.572;0.996;0.954;0.927	T	0.76515	-0.2931	10	0.37606	T	0.19	-40.2274	17.5867	0.87983	0.0:1.0:0.0:0.0	.	646;477;646;646;645	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	H	645;645;476	ENSP00000305056:R645H;ENSP00000351193:R645H;ENSP00000381246:R476H	ENSP00000305056:R645H	R	-	2	0	PCSK6	99689681	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	3.059000	0.49947	2.744000	0.94065	0.650000	0.86243	CGC	PCSK6	-	NULL		0.577	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		C	NM_002570		101872158	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	missense	SNP	0.998	T
PHKA1	5255	genome.wustl.edu	37	X	71825220	71825220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:71825220G>A	ENST00000373542.4	-	25	2875	c.2716C>T	c.(2716-2718)Cga>Tga	p.R906*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.R847*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.R906*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.R847*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.R906*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	906					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGCTGGGTTCGCATATACATG	0.433													G|||	1	0.000264901	0.0	0.0	3775	,	,		14205	0.0		0.001	False		,,,				2504	0.0																0													95.0	78.0	84.0					X																	71825220		2203	4300	6503	SO:0001587	stop_gained	5255				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2716C>T	X.37:g.71825220G>A	ENSP00000362643:p.Arg906*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R906*	ENST00000373542.4	37	c.2716	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	44	10.643650	0.99443	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.8	-0.384	0.12474	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7696	15.6069	0.76679	0.0:0.0:0.2058:0.7942	.	.	.	.	X	847;906;847;906;906	.	ENSP00000342469:R906X	R	-	1	2	PHKA1	71741945	0.032000	0.19561	0.995000	0.50966	0.982000	0.71751	-0.021000	0.12504	-0.204000	0.10235	0.594000	0.82650	CGA	PHKA1	-	pfam_Glyco_hydro_15		0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	G			71825220	-1	no_errors	ENST00000373539	ensembl	human	known	70_37	nonsense	SNP	0.981	A
PIWIL3	440822	genome.wustl.edu	37	22	25144974	25144974	+	Missense_Mutation	SNP	C	C	T	rs141396207	byFrequency	TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:25144974C>T	ENST00000332271.5	-	12	1765	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	PIWIL3_ENST00000533313.1_Missense_Mutation_p.R341Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R341Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	450					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAGTAACTCTCGTACTTTTTT	0.358													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19702	0.0		0.0	False		,,,				2504	0.0																0								C	GLN/ARG	0,4406		0,0,2203	61.0	61.0	61.0		1349	1.1	0.0	22	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIWIL3	NM_001008496.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	450/883	25144974	1,13005	2203	4300	6503	SO:0001583	missense	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1349G>A	22.37:g.25144974C>T	ENSP00000330031:p.Arg450Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R450Q	ENST00000332271.5	37	c.1349	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.662969	0.00772	0.0	1.16E-4	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12984	2.63;2.63;2.63	2.29	1.06	0.20224	Ribonuclease H-like (1);	0.304714	0.31020	N	0.008412	T	0.03011	0.0089	N	0.01242	-0.935	0.09310	N	1	B;B;B	0.24483	0.035;0.015;0.104	B;B;B	0.15484	0.003;0.001;0.013	T	0.43940	-0.9360	10	0.08381	T	0.77	-1.0893	5.6772	0.17755	0.0:0.1542:0.0:0.8458	.	341;450;450	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	450;341;341	ENSP00000330031:R450Q;ENSP00000431843:R341Q;ENSP00000435718:R341Q	ENSP00000330031:R450Q	R	-	2	0	PIWIL3	23474974	0.447000	0.25673	0.001000	0.08648	0.003000	0.03518	1.057000	0.30492	0.311000	0.23014	-0.657000	0.03884	CGA	PIWIL3	-	superfamily_RNaseH-like_dom		0.358	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	C	NM_001008496		25144974	-1	no_errors	ENST00000332271	ensembl	human	known	70_37	missense	SNP	0.009	T
POLN	353497	genome.wustl.edu	37	4	2160903	2160903	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:2160903C>A	ENST00000511885.2	-	14	1943	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.K530N			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	530					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAAAATTATCTTGGGTAATG	0.353								DNA polymerases (catalytic subunits)																																									0													101.0	101.0	101.0					4																	2160903		2203	4300	6503	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1590G>T	4.37:g.2160903C>A	ENSP00000435506:p.Lys530Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.K530N	ENST00000511885.2	37	c.1590	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.53|12.53	1.966812|1.966812	0.34659|0.34659	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313|ENST00000511098	T;T|.	0.24723|.	1.84;1.84|.	4.45|4.45	2.67|2.67	0.31697|0.31697	DNA-directed DNA polymerase, family A, palm domain (1);|.	0.169443|.	0.48767|.	D|.	0.000163|.	T|T	0.57359|0.57359	0.2048|0.2048	L|L	0.57536|0.57536	1.79|1.79	0.37208|0.37208	D|D	0.904681|0.904681	D;B|.	0.57571|.	0.98;0.221|.	P;B|.	0.55615|.	0.78;0.216|.	T|T	0.57470|0.57470	-0.7806|-0.7806	10|5	0.66056|.	D|.	0.02|.	-13.6421|-13.6421	6.4806|6.4806	0.22061|0.22061	0.0:0.7686:0.0:0.2314|0.0:0.7686:0.0:0.2314	.|.	530;530|.	E7ERY2;Q7Z5Q5|.	.;DPOLN_HUMAN|.	N|I	530;530;221|163	ENSP00000435506:K530N;ENSP00000372316:K530N|.	ENSP00000253313:K221N|.	K|R	-|-	3|2	2|0	POLN|POLN	2130701|2130701	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	1.176000|1.176000	0.31957|0.31957	0.584000|0.584000	0.29591|0.29591	0.650000|0.650000	0.86243|0.86243	AAG|AGA	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom		0.353	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	C	NM_181808		2160903	-1	no_errors	ENST00000382865	ensembl	human	known	70_37	missense	SNP	1.000	A
PREPL	9581	genome.wustl.edu	37	2	44549013	44549013	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr2:44549013C>G	ENST00000409936.1	-	14	2484	c.2047G>C	c.(2047-2049)Gat>Cat	p.D683H	PREPL_ENST00000409411.1_Missense_Mutation_p.D594H|PREPL_ENST00000410081.1_Missense_Mutation_p.D683H|PREPL_ENST00000409272.1_Missense_Mutation_p.D683H|PREPL_ENST00000260648.6_Missense_Mutation_p.D683H|PREPL_ENST00000409957.1_Missense_Mutation_p.D594H|PREPL_ENST00000378520.3_Missense_Mutation_p.D617H|PREPL_ENST00000541738.1_Missense_Mutation_p.D594H|PREPL_ENST00000378511.3_Missense_Mutation_p.D621H	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	683						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCTGAATATCTAGAATAATA	0.408																																																	0													84.0	86.0	86.0					2																	44549013		2203	4300	6503	SO:0001583	missense	9581			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2047G>C	2.37:g.44549013C>G	ENSP00000386543:p.Asp683His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.D683H	ENST00000409936.1	37	c.2047	CCDS33190.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.364854|3.364854	0.61513|0.61513	.|.	.|.	ENSG00000138078|ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511|ENST00000420756	T;T;T;T;T;T;T;T;T|.	0.27720|.	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);|.	0.167251|.	0.51477|.	D|.	0.000084|.	T|.	0.56187|.	0.1968|.	L|L	0.28694|0.28694	0.88|0.88	0.54753|0.54753	D|D	0.999981|0.999981	D;B;D|.	0.89917|.	1.0;0.216;1.0|.	D;B;D|.	0.87578|.	0.998;0.188;0.99|.	T|.	0.51505|.	-0.8697|.	10|.	0.87932|.	D|.	0|.	-22.2421|-22.2421	16.4549|16.4549	0.84009|0.84009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621;617;683|.	Q4J6C6-3;Q4J6C6-2;Q4J6C6|.	.;.;PPCEL_HUMAN|.	H|Y	594;594;594;683;683;683;683;617;621|64	ENSP00000439626:D594H;ENSP00000387095:D594H;ENSP00000387241:D594H;ENSP00000386543:D683H;ENSP00000260648:D683H;ENSP00000386909:D683H;ENSP00000386509:D683H;ENSP00000367781:D617H;ENSP00000367772:D621H|.	ENSP00000260648:D683H|.	D|X	-|-	1|3	0|2	PREPL|PREPL	44402517|44402517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.101000|2.101000	0.41787|0.41787	2.534000|2.534000	0.85438|0.85438	0.591000|0.591000	0.81541|0.81541	GAT|TAG	PREPL	-	pfam_Peptidase_S9		0.408	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	C	NM_006036		44549013	-1	no_errors	ENST00000260648	ensembl	human	known	70_37	missense	SNP	1.000	G
PTX4	390667	genome.wustl.edu	37	16	1537463	1537463	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:1537463G>C	ENST00000447419.2	-	2	675	c.650C>G	c.(649-651)tCt>tGt	p.S217C	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.S212C			Q96A99	PTX4_HUMAN	pentraxin 4, long	217						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTGTGCTCAGAGGCAGCTCG	0.706																																																	0													15.0	19.0	17.0					16																	1537463		2191	4291	6482	SO:0001583	missense	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.650C>G	16.37:g.1537463G>C	ENSP00000445277:p.Ser217Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S217C	ENST00000447419.2	37	c.650		16	.	.	.	.	.	.	.	.	.	.	G	8.530	0.870693	0.17322	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05717	3.55;3.4	5.14	1.99	0.26369	.	3.724240	0.00628	N	0.000465	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34950	-0.9808	10	0.48119	T	0.1	.	4.4528	0.11628	0.0852:0.1522:0.6052:0.1575	.	212	Q96A99-2	.	C	217;212	ENSP00000445277:S217C;ENSP00000293922:S212C	ENSP00000293922:S212C	S	-	2	0	PTX4	1477464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.711000	0.05019	0.258000	0.21686	-0.122000	0.15005	TCT	PTX4	-	NULL		0.706	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	G	NM_001013658		1537463	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	missense	SNP	0.000	C
PXN	5829	genome.wustl.edu	37	12	120652925	120652925	+	Missense_Mutation	SNP	T	T	C	rs201427575		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr12:120652925T>C	ENST00000228307.7	-	8	1226	c.1085A>G	c.(1084-1086)aAg>aGg	p.K362R	PXN_ENST00000424649.2_Missense_Mutation_p.K328R|PXN_ENST00000458477.2_Missense_Mutation_p.K195R|PXN_ENST00000536957.1_Missense_Mutation_p.K360R|PXN_ENST00000267257.7_Missense_Mutation_p.K376R|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Missense_Mutation_p.K174R|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	362	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGGGCTTCTTGCAGGCCCC	0.692													T|||	1	0.000199681	0.0008	0.0	5008	,	,		13240	0.0		0.0	False		,,,				2504	0.0																0								T	ARG/LYS,ARG/LYS,ARG/LYS	6,4326		0,6,2160	17.0	20.0	19.0		1085,983,584	5.1	1.0	12		19	0,8536		0,0,4268	yes	missense,missense,missense	PXN	NM_001080855.2,NM_002859.3,NM_025157.4	26,26,26	0,6,6428	CC,CT,TT		0.0,0.1385,0.0466	benign,benign,benign	362/592,328/558,195/425	120652925	6,12862	2166	4268	6434	SO:0001583	missense	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1085A>G	12.37:g.120652925T>C	ENSP00000228307:p.Lys362Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.K376R	ENST00000228307.7	37	c.1127	CCDS44997.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.76|14.76	2.631027|2.631027	0.46944|0.46944	0.001385|0.001385	0.0|0.0	ENSG00000089159|ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000541856|ENST00000550795	D;D;D;D;D;D|.	0.87966|.	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Zinc finger, LIM-type (5);|.	.|.	.|.	.|.	.|.	T|T	0.52709|0.52709	0.1751|0.1751	N|N	0.25332|0.25332	0.735|0.735	0.44454|0.44454	D|D	0.99738|0.99738	B;B;B;B|.	0.21753|.	0.049;0.058;0.009;0.06|.	B;B;B;B|.	0.22152|.	0.022;0.022;0.017;0.038|.	T|T	0.49781|0.49781	-0.8903|-0.8903	9|5	0.19147|.	T|.	0.46|.	.|.	14.8125|14.8125	0.70006|0.70006	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	328;376;174;362|.	P49023-2;P49023-3;E7EMK8;P49023|.	.;.;.;PAXI_HUMAN|.	R|G	195;362;328;360;376;174;87|111	ENSP00000395536:K195R;ENSP00000228307:K362R;ENSP00000391283:K328R;ENSP00000443887:K360R;ENSP00000267257:K376R;ENSP00000380643:K174R|.	ENSP00000228307:K362R|.	K|R	-|-	2|1	0|2	PXN|PXN	119137308|119137308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.864000|3.864000	0.56024|0.56024	1.907000|1.907000	0.55213|0.55213	0.450000|0.450000	0.29827|0.29827	AAG|AGA	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.692	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	T	NM_002859		120652925	-1	no_errors	ENST00000267257	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM10	8241	genome.wustl.edu	37	X	47040952	47040952	+	Silent	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chrX:47040952G>A	ENST00000377604.3	+	14	2224	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	RBM10_ENST00000329236.7_Silent_p.Q416Q|RBM10_ENST00000345781.6_Silent_p.Q417Q	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	494					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTCGATGCAGGCTTTCTCTC	0.632																																					Melanoma(171;120 2705 19495 39241)												0													33.0	27.0	29.0					X																	47040952		2203	4298	6501	SO:0001819	synonymous_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1482G>A	X.37:g.47040952G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.Q494	ENST00000377604.3	37	c.1482	CCDS14274.1	X																																																																																			RBM10	-	NULL		0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47040952	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	silent	SNP	1.000	A
RGL1	23179	genome.wustl.edu	37	1	183891454	183891454	+	Silent	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:183891454C>G	ENST00000360851.3	+	17	2281	c.2103C>G	c.(2101-2103)gtC>gtG	p.V701V	RGL1_ENST00000539189.1_Silent_p.V672V|RGL1_ENST00000536277.1_Silent_p.V699V|RGL1_ENST00000304685.4_Silent_p.V736V			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	701	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGGTGCAGGTCATCTCGGAGG	0.582											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	62.0	71.0					1																	183891454		2203	4300	6503	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2103C>G	1.37:g.183891454C>G		Somatic	1987	WXS	Illumina HiSeq	Phase_IV	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V736	ENST00000360851.3	37	c.2208		1																																																																																			RGL1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.582	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	C	NM_015149		183891454	+1	no_errors	ENST00000304685	ensembl	human	known	70_37	silent	SNP	1.000	G
ROR2	4920	genome.wustl.edu	37	9	94493270	94493270	+	Missense_Mutation	SNP	C	C	T	rs151187583		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr9:94493270C>T	ENST00000375708.3	-	7	1303	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.G229R	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	369	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTGGCCTCCGGGGTTCCGG	0.597																																																	0								C	ARG/GLY	0,4406		0,0,2203	63.0	60.0	61.0		1105	3.0	0.7	9	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR2	NM_004560.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	369/944	94493270	1,13005	2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1105G>A	9.37:g.94493270C>T	ENSP00000364860:p.Gly369Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G369R	ENST00000375708.3	37	c.1105	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464527	0.84425	0.0	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.65732	-0.17;-0.17	3.95	3.05	0.35203	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.40385	U	0.001118	T	0.71533	0.3351	M	0.74389	2.26	0.80722	D	1	D;P;D	0.65815	0.995;0.832;0.989	P;B;P	0.55508	0.777;0.304;0.777	T	0.75575	-0.3270	10	0.87932	D	0	.	11.8359	0.52323	0.0:0.9136:0.0:0.0864	.	369;369;229	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	R	229;369	ENSP00000364867:G229R;ENSP00000364860:G369R	ENSP00000364860:G369R	G	-	1	0	ROR2	93533091	1.000000	0.71417	0.744000	0.31058	0.987000	0.75469	7.506000	0.81665	1.003000	0.39130	0.561000	0.74099	GGA	ROR2	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Kringle		0.597	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94493270	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	0.998	T
SCNN1D	6339	genome.wustl.edu	37	1	1221594	1221594	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:1221594G>T	ENST00000338555.2	+	4	1499	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F	SCNN1D_ENST00000325425.8_Missense_Mutation_p.V185F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.V283F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.V119F			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	119					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCATGGCCGTCTCTGTGCA	0.711																																																	0													23.0	24.0	24.0					1																	1221594		2175	4278	6453	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.355G>T	1.37:g.1221594G>T	ENSP00000339504:p.Val119Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.V283F	ENST00000338555.2	37	c.847		1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053753	0.36277	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.53	-2.27	0.06846	.	0.572149	0.15998	N	0.234455	T	0.66056	0.2751	M	0.66939	2.045	0.09310	N	1	D;D	0.65815	0.983;0.995	P;P	0.62649	0.905;0.864	T	0.57418	-0.7815	10	0.72032	D	0.01	.	2.3002	0.04160	0.5012:0.1332:0.2302:0.1354	.	119;283	P51172;A6NNF7	SCNND_HUMAN;.	F	150;283;119;185;119	ENSP00000368411:V283F;ENSP00000339504:V119F;ENSP00000321594:V185F;ENSP00000383717:V119F	ENSP00000321594:V185F	V	+	1	0	SCNN1D	1211457	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.108000	0.10857	-0.559000	0.06110	-1.506000	0.00953	GTC	SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.711	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	G	NM_002978		1221594	+1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.000	T
SDF2	6388	genome.wustl.edu	37	17	26989106	26989106	+	5'UTR	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:26989106C>A	ENST00000247020.4	-	0	87				SUPT6H_ENST00000314616.6_5'Flank|SUPT6H_ENST00000347486.4_5'Flank|SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2						protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CAGCTGCCTTCCTGAGCCGCT	0.567																																																	0																																										SO:0001623	5_prime_UTR_variant	6388			BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.-212G>T	17.37:g.26989106C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ79	RNA	SNP	-	NULL	ENST00000247020.4	37	NULL	CCDS11238.1	17																																																																																			SDF2	-	-		0.567	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDF2	HGNC	protein_coding	OTTHUMT00000255965.2	C	NM_006923		26989106	-1	no_errors	ENST00000585749	ensembl	human	known	70_37	rna	SNP	0.001	A
SH3RF2	153769	genome.wustl.edu	37	5	145317770	145317770	+	Silent	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:145317770G>T	ENST00000511217.1	+	1	331	c.279G>T	c.(277-279)acG>acT	p.T93T	SH3RF2_ENST00000359120.4_Silent_p.T93T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	93					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTGGCACGATGACCTTGC	0.632																																																	0													51.0	52.0	51.0					5																	145317770		2203	4300	6503	SO:0001819	synonymous_variant	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.279G>T	5.37:g.145317770G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.T93	ENST00000511217.1	37	c.279	CCDS4280.1	5																																																																																			SH3RF2	-	NULL		0.632	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	G	NM_152550		145317770	+1	no_errors	ENST00000359120	ensembl	human	known	70_37	silent	SNP	0.320	T
SIRPB1	10326	genome.wustl.edu	37	20	1559191	1559191	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr20:1559191C>T	ENST00000381605.4	-	2	290	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SIRPB1_ENST00000381603.3_Missense_Mutation_p.E76K|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E75K|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E76K	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	76	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGATTAATTCCCGGCCTGCT	0.507																																																	0													161.0	144.0	150.0					20																	1559191		2196	4242	6438	SO:0001583	missense	10326			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.226G>A	20.37:g.1559191C>T	ENSP00000371018:p.Glu76Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.E76K	ENST00000381605.4	37	c.226	CCDS13019.1	20	.	.	.	.	.	.	.	.	.	.	.	8.721	0.914313	0.17907	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.67345	-0.26;-0.26;-0.26	2.36	-2.66	0.06077	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.767437	0.12104	N	0.499259	T	0.52058	0.1711	L	0.56199	1.76	0.09310	N	1	B;B	0.28512	0.095;0.214	B;B	0.32465	0.118;0.146	T	0.42361	-0.9456	10	0.14252	T	0.57	.	3.6672	0.08260	0.0:0.2708:0.4229:0.3063	.	76;76	O00241;O00241-2	SIRB1_HUMAN;.	K	76;76;75	ENSP00000371018:E76K;ENSP00000371016:E76K;ENSP00000262929:E75K	ENSP00000262929:E75K	E	-	1	0	SIRPB1	1507191	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.266000	0.02842	-0.472000	0.06881	0.462000	0.41574	GAA	SIRPB1	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like		0.507	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2	C	NM_006065		1559191	-1	no_errors	ENST00000381605	ensembl	human	known	70_37	missense	SNP	0.000	T
SPDYE3	441272	genome.wustl.edu	37	7	99917593	99917593	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:99917593G>A	ENST00000332397.6	+	10	1814	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167N	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582																																																	1	Substitution - Missense(1)	NS(1)											13.0	20.0	17.0					7																	99917593		1254	2302	3556	SO:0001583	missense	441272			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1630G>A	7.37:g.99917593G>A	ENSP00000329565:p.Asp544Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.D544N	ENST00000332397.6	37	c.1630	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005052	0.35415	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.185	0.185	0.15096	.	0.093080	0.44097	D	0.000488	T	0.46034	0.1372	M	0.70903	2.155	0.09310	N	1	.	.	.	.	.	.	T	0.39702	-0.9601	6	0.59425	D	0.04	.	.	.	.	.	.	.	.	N	544;167	.	ENSP00000329565:D544N	D	+	1	0	SPDYE3	99755529	0.996000	0.38824	0.021000	0.16686	0.021000	0.10359	1.061000	0.30542	0.293000	0.22520	0.298000	0.19748	GAT	SPDYE3	-	pfam_Cell_cycle_regulatory_Spy1		0.582	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	G	NM_001004351		99917593	+1	no_errors	ENST00000332397	ensembl	human	known	70_37	missense	SNP	0.025	A
SUPT3H	8464	genome.wustl.edu	37	6	44988298	44988298	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:44988298C>T	ENST00000371459.1	-	4	423	c.258G>A	c.(256-258)ttG>ttA	p.L86L	SUPT3H_ENST00000371460.1_Silent_p.L97L|SUPT3H_ENST00000371461.2_Silent_p.L97L|SUPT3H_ENST00000306867.5_Silent_p.L86L	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	168					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CTTTGCGCATCAAAAACAGAA	0.318																																																	0													52.0	54.0	53.0					6																	44988298		2203	4298	6501	SO:0001819	synonymous_variant	8464			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.258G>A	6.37:g.44988298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Silent	SNP	pfam_TFIID-18,superfamily_Histone-fold	p.L97	ENST00000371459.1	37	c.291	CCDS34465.1	6																																																																																			SUPT3H	-	pfam_TFIID-18		0.318	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT3H	HGNC	protein_coding	OTTHUMT00000106911.2	C	NM_181356		44988298	-1	no_errors	ENST00000371460	ensembl	human	known	70_37	silent	SNP	1.000	T
TAPBP	6892	genome.wustl.edu	37	6	33272198	33272198	+	Silent	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:33272198G>A	ENST00000489157.1	-	4	1037	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TAPBP_ENST00000426633.2_Silent_p.L362L|TAPBP_ENST00000456592.2_Silent_p.L362L|TAPBP_ENST00000475304.1_Silent_p.L380L|TAPBP_ENST00000434618.2_Silent_p.L362L			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	362					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGTGCCCAGAGAGGCTGACAG	0.687																																																	0													32.0	34.0	33.0					6																	33272198		2201	4296	6497	SO:0001819	synonymous_variant	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.825C>T	6.37:g.33272198G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Silent	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.L362	ENST00000489157.1	37	c.1086	CCDS34427.2	6																																																																																			TAPBP	-	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin		0.687	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33272198	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	silent	SNP	0.999	A
TAPBP	6892	genome.wustl.edu	37	6	33273056	33273056	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:33273056G>C	ENST00000489157.1	-	3	529	c.317C>G	c.(316-318)tCa>tGa	p.S106*	TAPBP_ENST00000426633.2_Nonsense_Mutation_p.S193*|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.S193*|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.S211*|TAPBP_ENST00000434618.2_Nonsense_Mutation_p.S193*			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	193					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGCCAGAGATGAGGCGGCCTC	0.637																																																	0													29.0	32.0	31.0					6																	33273056		2203	4300	6503	SO:0001587	stop_gained	6892			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.317C>G	6.37:g.33273056G>C	ENSP00000419659:p.Ser106*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Nonsense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin	p.S193*	ENST00000489157.1	37	c.578	CCDS34427.2	6	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861269	0.71949	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	.	.	.	4.79	4.79	0.61399	.	1.934720	0.02899	N	0.135187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.3153	13.2013	0.59769	0.0:0.0:1.0:0.0	.	.	.	.	X	193;211;106;193;193;193;193;136	.	ENSP00000404833:S193X	S	-	2	0	TAPBP	33381034	0.000000	0.05858	0.091000	0.20842	0.536000	0.34869	0.713000	0.25794	2.488000	0.83962	0.549000	0.68633	TCA	TAPBP	-	NULL		0.637	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	G			33273056	-1	no_errors	ENST00000426633	ensembl	human	known	70_37	nonsense	SNP	0.231	C
SYNE1	23345	genome.wustl.edu	37	6	152763321	152763321	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000448038.1_Silent_p.A1306A|SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000413186.2_Silent_p.A1299A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000367248.3_Silent_p.A1289A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A1299A(2)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567										HNSCC(10;0.0054)																																							3	Substitution - coding silent(3)	lung(3)											76.0	68.0	71.0					6																	152763321		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3897G>A	6.37:g.152763321C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A1299	ENST00000367255.5	37	c.3897	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152763321	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.002	T
THOC5	8563	genome.wustl.edu	37	22	29939420	29939420	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr22:29939420C>T	ENST00000490103.1	-	4	474	c.352G>A	c.(352-354)Gag>Aag	p.E118K	THOC5_ENST00000397871.1_Missense_Mutation_p.E118K|THOC5_ENST00000397873.2_Missense_Mutation_p.E118K|THOC5_ENST00000397872.1_Missense_Mutation_p.E118K	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	118	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACTACTACCTCGTGGGTCTGA	0.403																																																	0													136.0	138.0	137.0					22																	29939420		2203	4300	6503	SO:0001583	missense	8563			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.352G>A	22.37:g.29939420C>T	ENSP00000420306:p.Glu118Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60839|Q9UPZ5	Missense_Mutation	SNP	pfam_THO_Thoc5	p.E118K	ENST00000490103.1	37	c.352	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978396	0.74360	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.47869	1.68;1.68;1.68;1.68;0.83	5.49	4.47	0.54385	.	0.113097	0.64402	D	0.000016	T	0.61602	0.2360	L	0.54323	1.7	0.80722	D	1	P;D	0.89917	0.937;1.0	B;D	0.73380	0.275;0.98	T	0.59182	-0.7502	10	0.32370	T	0.25	-14.6375	14.0151	0.64519	0.0:0.9274:0.0:0.0726	.	118;118	F8WCP5;Q13769	.;THOC5_HUMAN	K	118;118;118;118;118;114;118	ENSP00000420306:E118K;ENSP00000380970:E118K;ENSP00000380969:E118K;ENSP00000380971:E118K;ENSP00000415425:E114K	ENSP00000444493:E118K	E	-	1	0	THOC5	28269420	1.000000	0.71417	0.991000	0.47740	0.567000	0.35839	7.548000	0.82154	1.323000	0.45263	0.460000	0.39030	GAG	THOC5	-	pfam_THO_Thoc5		0.403	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	C	NM_003678		29939420	-1	no_errors	ENST00000397871	ensembl	human	known	70_37	missense	SNP	1.000	T
TNFRSF8	943	genome.wustl.edu	37	1	12202462	12202462	+	Silent	SNP	G	G	A	rs376213546		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:12202462G>A	ENST00000263932.2	+	15	1884	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	TNFRSF8_ENST00000413146.2_Silent_p.A91A|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Silent_p.A442A	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	554					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AGCTGGAGGCGGACCATACCC	0.662																																																	0								G	,	0,4402		0,0,2201	33.0	37.0	36.0		1662,273	2.1	1.0	1		36	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TNFRSF8	NM_001243.3,NM_152942.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	554/596,91/133	12202462	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	943			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1662G>A	1.37:g.12202462G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.A554	ENST00000263932.2	37	c.1662	CCDS144.1	1																																																																																			TNFRSF8	-	prints_TNFR_8		0.662	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	G			12202462	+1	no_errors	ENST00000263932	ensembl	human	known	70_37	silent	SNP	0.926	A
TULP4	56995	genome.wustl.edu	37	6	158873197	158873197	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr6:158873197G>C	ENST00000367097.3	+	5	2113	c.756G>C	c.(754-756)caG>caC	p.Q252H	TULP4_ENST00000367094.2_Missense_Mutation_p.Q252H	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	252					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCCCAGTGCAGAACATCAAGC	0.537																																																	0													186.0	155.0	165.0					6																	158873197		2203	4300	6503	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.756G>C	6.37:g.158873197G>C	ENSP00000356064:p.Gln252His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q252H	ENST00000367097.3	37	c.756	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767433	0.31320	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.03272	3.99;3.99	5.73	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112563	0.64402	D	0.000008	T	0.01189	0.0039	N	0.24115	0.695	0.40082	D	0.976144	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.51036	-0.8756	10	0.29301	T	0.29	-28.888	10.9447	0.47294	0.1425:0.0:0.8575:0.0	.	252;252;252	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	H	252	ENSP00000356064:Q252H;ENSP00000356061:Q252H	ENSP00000356061:Q252H	Q	+	3	2	TULP4	158793185	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.780000	0.47742	1.436000	0.47453	0.655000	0.94253	CAG	TULP4	-	superfamily_WD40_repeat_dom		0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	G	NM_020245		158873197	+1	no_errors	ENST00000367097	ensembl	human	known	70_37	missense	SNP	1.000	C
USH2A	7399	genome.wustl.edu	37	1	216462695	216462695	+	Missense_Mutation	SNP	G	G	A	rs373190681		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr1:216462695G>A	ENST00000307340.3	-	11	2284	c.1898C>T	c.(1897-1899)tCg>tTg	p.S633L	USH2A_ENST00000366942.3_Missense_Mutation_p.S633L|USH2A_ENST00000366943.2_Missense_Mutation_p.S633L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	633	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCTATGGCCGAAGGATCTGC	0.408										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		18835	0.0		0.0	False		,,,				2504	0.0																0								G	LEU/SER,LEU/SER	0,4406		0,0,2203	175.0	154.0	161.0		1898,1898	5.4	0.9	1		161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USH2A	NM_007123.5,NM_206933.2	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	633/1547,633/5203	216462695	1,13005	2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1898C>T	1.37:g.216462695G>A	ENSP00000305941:p.Ser633Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S633L	ENST00000307340.3	37	c.1898	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987712	0.53934	0.0	1.16E-4	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.21031	2.48;2.47;2.03	5.43	5.43	0.79202	EGF-like, laminin (3);	0.209202	0.23861	N	0.043842	T	0.31857	0.0810	M	0.62266	1.93	0.34013	D	0.65171	P;D	0.57571	0.873;0.98	B;P	0.46940	0.216;0.532	T	0.36744	-0.9735	10	0.34782	T	0.22	.	19.6173	0.95639	0.0:0.0:1.0:0.0	.	633;633	O75445-2;O75445	.;USH2A_HUMAN	L	633	ENSP00000305941:S633L;ENSP00000355910:S633L;ENSP00000355909:S633L	ENSP00000305941:S633L	S	-	2	0	USH2A	214529318	0.996000	0.38824	0.943000	0.38184	0.905000	0.53344	4.655000	0.61476	2.712000	0.92718	0.557000	0.71058	TCG	USH2A	-	smart_EGF_laminin		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		216462695	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.987	A
VPS54	51542	genome.wustl.edu	37	2	64147684	64147684	+	Silent	SNP	G	G	A	rs140360976		TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr2:64147684G>A	ENST00000272322.4	-	14	2101	c.1947C>T	c.(1945-1947)acC>acT	p.T649T	VPS54_ENST00000354504.3_Silent_p.T496T|VPS54_ENST00000409558.4_Silent_p.T637T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	649					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGATCTGTTCGGTGTCTAAAA	0.333																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	98.0	99.0	99.0		1911,1947	3.1	1.0	2	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	VPS54	NM_001005739.1,NM_016516.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	637/966,649/978	64147684	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1947C>T	2.37:g.64147684G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.T649	ENST00000272322.4	37	c.1947	CCDS33208.1	2																																																																																			VPS54	-	NULL		0.333	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	G	NM_016516		64147684	-1	no_errors	ENST00000272322	ensembl	human	known	70_37	silent	SNP	0.999	A
WBSCR17	64409	genome.wustl.edu	37	7	70597809	70597809	+	Silent	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr7:70597809C>G	ENST00000333538.5	+	1	655	c.21C>G	c.(19-21)gtC>gtG	p.V7V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	7					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)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGAAGAGTCAAAGTGCTGT	0.692																																																	0													62.0	56.0	58.0					7																	70597809		2198	4299	6497	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.21C>G	7.37:g.70597809C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V7	ENST00000333538.5	37	c.21	CCDS5540.1	7																																																																																			WBSCR17	-	NULL		0.692	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		70597809	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	silent	SNP	1.000	G
WDR19	57728	genome.wustl.edu	37	4	39205309	39205309	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr4:39205309G>C	ENST00000399820.3	+	7	724	c.570G>C	c.(568-570)aaG>aaC	p.K190N	WDR19_ENST00000506503.1_Missense_Mutation_p.K190N|WDR19_ENST00000288634.7_Missense_Mutation_p.K30N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	190					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TCTTGATGAAGATGGATGACC	0.348																																																	0													101.0	93.0	96.0					4																	39205309		1886	4110	5996	SO:0001583	missense	57728			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.570G>C	4.37:g.39205309G>C	ENSP00000382717:p.Lys190Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.K190N	ENST00000399820.3	37	c.570	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796796	0.31777	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000512112;ENST00000288634;ENST00000506503;ENST00000399836	T;T;T;T	0.69040	-0.33;1.91;-0.37;0.99	5.64	4.8	0.61643	WD40 repeat-like-containing domain (1);	0.177910	0.64402	D	0.000012	T	0.71358	0.3330	M	0.79123	2.44	0.50039	D	0.999848	B;P	0.39737	0.212;0.685	B;B	0.42282	0.13;0.382	T	0.76187	-0.3051	10	0.72032	D	0.01	-6.8213	14.86	0.70372	0.0691:0.0:0.9309:0.0	.	190;190	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	N	190;131;30;30;190;189	ENSP00000382717:K190N;ENSP00000426918:K131N;ENSP00000288634:K30N;ENSP00000423491:K190N	ENSP00000288634:K30N	K	+	3	2	WDR19	38881704	1.000000	0.71417	0.080000	0.20451	0.142000	0.21351	6.113000	0.71553	1.524000	0.49035	-0.259000	0.10710	AAG	WDR19	-	superfamily_WD40_repeat_dom		0.348	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	G			39205309	+1	no_errors	ENST00000399820	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR45B	56270	genome.wustl.edu	37	17	80585163	80585163	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr17:80585163C>T	ENST00000392325.4	-	4	443	c.249G>A	c.(247-249)atG>atA	p.M83I	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	83																	CATCCCAGATCATTACTGAAA	0.463																																																	0													102.0	99.0	100.0					17																	80585163		2203	4300	6503	SO:0001583	missense	56270			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.249G>A	17.37:g.80585163C>T	ENSP00000376139:p.Met83Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.M83I	ENST00000392325.4	37	c.249	CCDS11815.2	17	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615178	0.46631	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.62639	0.01	4.46	4.46	0.54185	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	N	0.20766	0.605	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39702	-0.9601	10	0.10111	T	0.7	-47.5108	17.4991	0.87727	0.0:1.0:0.0:0.0	.	83	Q5MNZ6	WIPI3_HUMAN	I	83;55	ENSP00000376139:M83I	ENSP00000376139:M83I	M	-	3	0	WDR45L	78178452	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.244000	0.78228	2.195000	0.70347	0.467000	0.42956	ATG	WDR45L	-	superfamily_WD40_repeat_dom		0.463	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR45L	HGNC	protein_coding	OTTHUMT00000316536.1	C	NM_019613		80585163	-1	no_errors	ENST00000392325	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR90	197335	genome.wustl.edu	37	16	717452	717452	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr16:717452G>A	ENST00000293879.4	+	41	5110	c.5110G>A	c.(5110-5112)Gac>Aac	p.D1704N	WDR90_ENST00000549091.1_Missense_Mutation_p.D1706N|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Missense_Mutation_p.D255N|WDR90_ENST00000547944.1_Missense_Mutation_p.D303N			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1704										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGCTGGTAGACTGTGCCAT	0.657																																																	0													45.0	54.0	51.0					16																	717452		2138	4229	6367	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.5110G>A	16.37:g.717452G>A	ENSP00000293879:p.Asp1704Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D255N	ENST00000293879.4	37	c.763	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925593	0.34002	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.71579	2.93;0.93;-0.58;1.05	5.14	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.556047	0.17523	U	0.171179	T	0.73133	0.3548	L	0.61036	1.89	0.32243	N	0.572416	P;B;P	0.50272	0.933;0.366;0.89	P;B;P	0.52217	0.693;0.081;0.496	T	0.75883	-0.3160	10	0.40728	T	0.16	.	8.1199	0.30965	0.0842:0.0:0.7557:0.16	.	255;303;1704	Q96KV7-7;G3V201;Q96KV7	.;.;WDR90_HUMAN	N	1706;1704;303;255	ENSP00000448122:D1706N;ENSP00000293879:D1704N;ENSP00000449576:D303N;ENSP00000322808:D255N	ENSP00000293879:D1704N	D	+	1	0	WDR90	657453	1.000000	0.71417	0.988000	0.46212	0.115000	0.19883	2.197000	0.42696	1.126000	0.42016	0.609000	0.83330	GAC	WDR90	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		717452	+1	no_errors	ENST00000315764	ensembl	human	known	70_37	missense	SNP	0.969	A
XIRP1	165904	genome.wustl.edu	37	3	39226849	39226849	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr3:39226849C>T	ENST00000340369.3	-	2	4316	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q	XIRP1_ENST00000421646.1_Missense_Mutation_p.R46Q|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1363					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCTCACCTCGTTGGTGTTC	0.587																																																	0													101.0	89.0	93.0					3																	39226849		2203	4300	6503	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4088G>A	3.37:g.39226849C>T	ENSP00000343140:p.Arg1363Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R1363Q	ENST00000340369.3	37	c.4088	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023913	0.19433	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.16073	4.02;2.37	3.8	-7.61	0.01299	.	3.430940	0.00829	N	0.001657	T	0.04497	0.0123	N	0.02142	-0.665	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.28427	-1.0044	10	0.10377	T	0.69	.	2.8739	0.05625	0.1036:0.2183:0.4165:0.2616	.	1363	Q702N8	XIRP1_HUMAN	Q	1363;46	ENSP00000343140:R1363Q;ENSP00000391645:R46Q	ENSP00000343140:R1363Q	R	-	2	0	XIRP1	39201853	0.026000	0.19158	0.009000	0.14445	0.045000	0.14185	-0.059000	0.11731	-1.543000	0.01723	-0.150000	0.13652	CGA	XIRP1	-	NULL		0.587	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39226849	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	missense	SNP	0.010	T
XKR4	114786	genome.wustl.edu	37	8	56015801	56015801	+	Silent	SNP	C	C	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr8:56015801C>T	ENST00000327381.6	+	1	853	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	251						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTCCTTCTGCATCTGGCTCC	0.607																																																	0													61.0	64.0	63.0					8																	56015801		2203	4300	6503	SO:0001819	synonymous_variant	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.753C>T	8.37:g.56015801C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.C251	ENST00000327381.6	37	c.753	CCDS34893.1	8																																																																																			XKR4	-	pfam_Transport_prot_XK		0.607	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56015801	+1	no_errors	ENST00000327381	ensembl	human	known	70_37	silent	SNP	1.000	T
ZDHHC11B	653082	genome.wustl.edu	37	5	756116	756116	+	Silent	SNP	G	G	T			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr5:756116G>T	ENST00000382776.4	-	2	365	c.366C>A	c.(364-366)atC>atA	p.I122I	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000508859.2_Silent_p.I133I			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	122						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						ACTGATTCTGGATCACGTGTG	0.592																																																	0																																										SO:0001819	synonymous_variant	653082					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.366C>A	5.37:g.756116G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHR3	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I122	ENST00000382776.4	37	c.366		5																																																																																			ZDHHC11B	-	NULL		0.592	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	HGNC	protein_coding		G	XM_926053		756116	-1	no_errors	ENST00000382776	ensembl	human	known	70_37	silent	SNP	0.985	T
ZNF555	148254	genome.wustl.edu	37	19	2852402	2852402	+	Silent	SNP	C	C	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:2852402C>A	ENST00000334241.4	+	4	477	c.339C>A	c.(337-339)ctC>ctA	p.L113L	ZNF555_ENST00000591539.1_Silent_p.L112L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAGACTCTGTGAAAGTA	0.343																																																	0													56.0	54.0	55.0					19																	2852402		2203	4300	6503	SO:0001819	synonymous_variant	148254			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.339C>A	19.37:g.2852402C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	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.L113	ENST00000334241.4	37	c.339	CCDS12096.1	19																																																																																			ZNF555	-	NULL		0.343	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	C	NM_152791		2852402	+1	no_errors	ENST00000334241	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNF222	7673	genome.wustl.edu	37	19	44536333	44536333	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:44536333G>A	ENST00000187879.8	+	4	668	c.506G>A	c.(505-507)gGa>gAa	p.G169E	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.G209E	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GTCCACATGGGAGTGAAATGC	0.428																																																	0													147.0	152.0	151.0					19																	44536333		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.506G>A	19.37:g.44536333G>A	ENSP00000187879:p.Gly169Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9B9|Q8N6G7|Q9P1U5	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.G209E	ENST00000187879.8	37	c.626	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203429	0.79127	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.20069	2.1;2.1	2.79	1.67	0.24075	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33147	0.0853	L	0.39397	1.21	0.31134	N	0.707397	P;D	0.76494	0.929;0.999	B;D	0.68621	0.434;0.959	T	0.29852	-0.9998	9	0.72032	D	0.01	.	10.3664	0.44026	0.0:0.2032:0.7968:0.0	.	209;169	G5E9B9;Q9UK12	.;ZN222_HUMAN	E	209;169;115	ENSP00000375822:G209E;ENSP00000187879:G169E	ENSP00000187879:G169E	G	+	2	0	ZNF222	49228173	0.997000	0.39634	0.004000	0.12327	0.717000	0.41224	2.400000	0.44504	0.438000	0.26450	0.205000	0.17691	GGA	ZNF222	-	pfscan_Znf_C2H2		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	G			44536333	+1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.955	A
ZNF829	374899	genome.wustl.edu	37	19	37382767	37382767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:37382767G>C	ENST00000391711.3	-	6	1290	c.926C>G	c.(925-927)tCa>tGa	p.S309*	ZNF829_ENST00000520965.1_Nonsense_Mutation_p.S390*|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S309*(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATAAGCCTTGAGTGTTGAGT	0.383																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											76.0	78.0	77.0					19																	37382767		2200	4300	6500	SO:0001587	stop_gained	374899			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.926C>G	19.37:g.37382767G>C	ENSP00000429266:p.Ser309*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_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.S390*	ENST00000391711.3	37	c.1169	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.131755	0.94473	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	2.95	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.7668	0.62999	0.0:0.0:1.0:0.0	.	.	.	.	X	309	.	ENSP00000429266:S309X	S	-	2	0	ZNF829	42074607	0.000000	0.05858	0.967000	0.41034	0.992000	0.81027	0.819000	0.27308	1.967000	0.57214	0.650000	0.86243	TCA	ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	G	NM_001037232		37382767	-1	no_errors	ENST00000520965	ensembl	human	known	70_37	nonsense	SNP	0.016	C
ZNF582	147948	genome.wustl.edu	37	19	56896548	56896548	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HR-01A-11D-A20U-09	TCGA-EA-A3HR-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a771746-0d20-4e77-ba67-a235b9e28d7a	3203ee43-42b4-437d-997e-b0bce91d7015	g.chr19:56896548C>G	ENST00000301310.4	-	5	396	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.E80Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TATCTGGACTCCAATACTAAG	0.353																																					Ovarian(183;1887 2032 4349 30507 51343)												0													42.0	44.0	43.0					19																	56896548		2199	4300	6499	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.238G>C	19.37:g.56896548C>G	ENSP00000301310:p.Glu80Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQZ9|B7Z9R3|Q6PJT6	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.E80Q	ENST00000301310.4	37	c.238	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222564	0.22457	.	.	ENSG00000018869	ENST00000301310	T	0.07800	3.16	4.78	2.62	0.31277	.	0.701904	0.11738	N	0.534338	T	0.06917	0.0176	L	0.35341	1.055	0.09310	N	1	B;B	0.29378	0.243;0.243	B;B	0.23716	0.048;0.048	T	0.32295	-0.9912	10	0.48119	T	0.1	.	8.1573	0.31176	0.0:0.7548:0.1579:0.0873	.	80;111	Q96NG8;B4DQZ9	ZN582_HUMAN;.	Q	80	ENSP00000301310:E80Q	ENSP00000301310:E80Q	E	-	1	0	ZNF582	61588360	0.000000	0.05858	0.019000	0.16419	0.088000	0.18126	-0.341000	0.07811	0.710000	0.31997	0.591000	0.81541	GAG	ZNF582	-	NULL		0.353	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	C	NM_144690		56896548	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	missense	SNP	0.003	G
