#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
ABL1	25	genome.wustl.edu	37	9	133760730	133760730	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:133760730C>A	ENST00000318560.5	+	11	3434	c.3053C>A	c.(3052-3054)cCt>cAt	p.P1018H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	1018	F-actin-binding.|Pro-rich.				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)	ACCCGCCAGCCTCCAGAGCGG	0.642			"""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													54.0	63.0	60.0					9																	133760730		2203	4297	6500	SO:0001583	missense	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.3053C>A	9.37:g.133760730C>A	ENSP00000323315:p.Pro1018His	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_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.P1037H	ENST00000318560.5	37	c.3110	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083923	0.55861	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.74002	-0.79;-0.8	5.26	4.29	0.51040	F-actin binding (2);	0.109437	0.64402	D	0.000005	T	0.79851	0.4517	L	0.48642	1.525	0.51767	D	0.999939	D;D	0.62365	0.991;0.991	D;D	0.64506	0.926;0.926	T	0.80783	-0.1228	10	0.87932	D	0	.	11.48	0.50320	0.0:0.9027:0.0:0.0973	.	1018;1055	P00519;Q59FK4	ABL1_HUMAN;.	H	833;1037;1018	ENSP00000361423:P1037H;ENSP00000323315:P1018H	ENSP00000323315:P1018H	P	+	2	0	ABL1	132750551	0.995000	0.38212	0.993000	0.49108	0.578000	0.36192	3.142000	0.50601	1.063000	0.40649	0.555000	0.69702	CCT	ABL1	-	pfam_F-actin_binding,smart_F-actin_binding		0.642	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133760730	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	A
ACAD8	27034	genome.wustl.edu	37	11	134128484	134128484	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:134128484G>T	ENST00000281182.4	+	4	562	c.456G>T	c.(454-456)atG>atT	p.M152I	ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Missense_Mutation_p.M75I|ACAD8_ENST00000543332.1_Missense_Mutation_p.M54I	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	152			M -> T (in IBDD). {ECO:0000269|PubMed:16857760}.		branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TCTGTACCATGGAGAAGTTTG	0.483																																					GBM(65;238 1125 33403 41853 48889)												0													129.0	90.0	103.0					11																	134128484		2201	4297	6498	SO:0001583	missense	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.456G>T	11.37:g.134128484G>T	ENSP00000281182:p.Met152Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.M152I	ENST00000281182.4	37	c.456	CCDS8498.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.052737	0.93793	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99701	-6.45;-6.45;-5.18	5.56	5.56	0.83823	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	M	0.87547	2.89	0.80722	D	1	P;P;P;P;P	0.50943	0.614;0.94;0.878;0.93;0.94	P;P;P;P;P	0.54140	0.54;0.674;0.457;0.687;0.743	D	0.98254	1.0495	10	0.66056	D	0.02	.	19.5044	0.95110	0.0:0.0:1.0:0.0	.	93;75;54;54;152	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	I	152;75;54;114	ENSP00000281182:M152I;ENSP00000443763:M75I;ENSP00000438302:M54I	ENSP00000281182:M152I	M	+	3	0	ACAD8	133633694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.702000	0.98712	2.605000	0.88082	0.655000	0.94253	ATG	ACAD8	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase		0.483	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD8	HGNC	protein_coding	OTTHUMT00000393607.1	G	NM_014384		134128484	+1	no_errors	ENST00000281182	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAM7	8756	genome.wustl.edu	37	8	24342818	24342818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:24342818G>T	ENST00000175238.6	+	10	987	c.904G>T	c.(904-906)Gga>Tga	p.G302*	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.G302*|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.G74*	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	302	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		G -> E (in a cutaneous metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:21618342}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACATGTGCAAGGAATTTCTTA	0.343																																																	0													153.0	147.0	149.0					8																	24342818		2203	4300	6503	SO:0001587	stop_gained	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.904G>T	8.37:g.24342818G>T	ENSP00000175238:p.Gly302*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G302*	ENST00000175238.6	37	c.904	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.451094	0.96205	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.44	5.44	0.79542	.	0.000000	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8368	0.70190	0.0:0.0:1.0:0.0	.	.	.	.	X	302;302;74;117	.	ENSP00000175238:G302X	G	+	1	0	ADAM7	24398708	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	4.449000	0.60034	2.569000	0.86673	0.644000	0.83932	GGA	ADAM7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.343	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817		24342818	+1	no_errors	ENST00000175238	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ALDH4A1	8659	genome.wustl.edu	37	1	19208252	19208252	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:19208252C>A	ENST00000375341.3	-	8	1065	c.808G>T	c.(808-810)Ggg>Tgg	p.G270W	ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G270W|ALDH4A1_ENST00000454547.1_5'Flank|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G210W|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G270W	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	270					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGTCCCCAAATAGGGGC	0.602																																																	0													77.0	68.0	71.0					1																	19208252		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.808G>T	1.37:g.19208252C>A	ENSP00000364490:p.Gly270Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.G270W	ENST00000375341.3	37	c.808	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270976	0.59540	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.41	3.49	0.39957	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.058184	0.64402	D	0.000001	D	0.93003	0.7773	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93852	0.7146	10	0.87932	D	0	-31.6069	11.3064	0.49338	0.0:0.9088:0.0:0.0912	.	270	P30038	AL4A1_HUMAN	W	270;270;270;210	ENSP00000290597:G270W;ENSP00000364490:G270W;ENSP00000446071:G270W;ENSP00000442988:G210W	ENSP00000290597:G270W	G	-	1	0	ALDH4A1	19080839	1.000000	0.71417	0.940000	0.37924	0.530000	0.34684	6.837000	0.75354	0.970000	0.38263	0.557000	0.71058	GGG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH		0.602	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	C			19208252	-1	no_errors	ENST00000290597	ensembl	human	known	70_37	missense	SNP	1.000	A
AHDC1	27245	genome.wustl.edu	37	1	27874770	27874770	+	Missense_Mutation	SNP	C	C	T	rs377405108		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:27874770C>T	ENST00000247087.5	-	5	4453	c.3857G>A	c.(3856-3858)cGg>cAg	p.R1286Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.R1286Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1286							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGCGCCACCCCGCTCCTTCTT	0.672																																																	0								C	GLN/ARG	0,4406		0,0,2203	60.0	62.0	62.0		3857	5.4	1.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	AHDC1	NM_001029882.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1286/1604	27874770	1,13005	2203	4300	6503	SO:0001583	missense	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3857G>A	1.37:g.27874770C>T	ENSP00000247087:p.Arg1286Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.R1286Q	ENST00000247087.5	37	c.3857	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133353	0.77662	0.0	1.16E-4	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.56611	0.45;0.45	5.42	5.42	0.78866	.	0.000000	0.51477	D	0.000097	T	0.53722	0.1814	N	0.24115	0.695	0.45822	D	0.998698	D	0.62365	0.991	P	0.53518	0.728	T	0.58629	-0.7603	10	0.66056	D	0.02	-11.6898	18.006	0.89209	0.0:1.0:0.0:0.0	.	1286	Q5TGY3	AHDC1_HUMAN	Q	1286	ENSP00000247087:R1286Q;ENSP00000363123:R1286Q	ENSP00000247087:R1286Q	R	-	2	0	AHDC1	27747357	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.244000	0.58728	2.550000	0.86006	0.655000	0.94253	CGG	AHDC1	-	NULL		0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	C			27874770	-1	no_errors	ENST00000247087	ensembl	human	known	70_37	missense	SNP	1.000	T
APOBEC4	403314	genome.wustl.edu	37	1	183617855	183617855	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:183617855C>A	ENST00000308641.4	-	2	333	c.62G>T	c.(61-63)tGg>tTg	p.W21L	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	21					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAAGCTTAGCCAGTAATATGG	0.388																																																	0													113.0	103.0	107.0					1																	183617855		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.62G>T	1.37:g.183617855C>A	ENSP00000310622:p.Trp21Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.W21L	ENST00000308641.4	37	c.62	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942070	0.73557	.	.	ENSG00000173627	ENST00000308641	T	0.27402	1.67	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000087	T	0.45418	0.1341	L	0.27053	0.805	0.46981	D	0.999277	D	0.89917	1.0	D	0.85130	0.997	T	0.48399	-0.9039	10	0.87932	D	0	-6.9377	18.441	0.90666	0.0:1.0:0.0:0.0	.	21	Q8WW27	ABEC4_HUMAN	L	21	ENSP00000310622:W21L	ENSP00000310622:W21L	W	-	2	0	APOBEC4	181884478	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.900000	0.63252	2.452000	0.82932	0.650000	0.86243	TGG	APOBEC4	-	NULL		0.388	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	C	NM_203454		183617855	-1	no_errors	ENST00000308641	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP31	57514	genome.wustl.edu	37	3	119132712	119132712	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:119132712G>A	ENST00000264245.4	+	12	2468	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGATGAAGATGATCTGGCCAA	0.473																																					Pancreas(7;176 297 5394 51128 51241)												0													83.0	82.0	82.0					3																	119132712		1954	4156	6110	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1936G>A	3.37:g.119132712G>A	ENSP00000264245:p.Asp646Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D646N	ENST00000264245.4	37	c.1936	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.082276	0.94050	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.10192	2.9	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	T	0.32315	0.0825	M	0.62723	1.935	0.49798	D	0.999827	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.59425	D	0.04	.	18.043	0.89324	0.0:0.0:1.0:0.0	.	646	Q2M1Z3	RHG31_HUMAN	N	646	ENSP00000264245:D646N	ENSP00000264245:D646N	D	+	1	0	ARHGAP31	120615402	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.986000	0.76200	2.746000	0.94184	0.655000	0.94253	GAT	ARHGAP31	-	NULL		0.473	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119132712	+1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.999	A
ARMC12	221481	genome.wustl.edu	37	6	35715376	35715376	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:35715376C>T	ENST00000373866.3	+	5	664	c.642C>T	c.(640-642)agC>agT	p.S214S	ARMC12_ENST00000288065.2_Silent_p.S241S|ARMC12_ENST00000373869.3_Silent_p.S214S			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	214						nucleus (GO:0005634)											GACTGCTGAGCTACCTGGCAC	0.488																																																	0													140.0	135.0	137.0					6																	35715376		2203	4300	6503	SO:0001819	synonymous_variant	221481			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.642C>T	6.37:g.35715376C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NEB2|Q96LL8	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S241	ENST00000373866.3	37	c.723		6																																																																																			ARMC12	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.488	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	ARMC12	HGNC	protein_coding	OTTHUMT00000040311.2	C	NM_145028		35715376	+1	no_errors	ENST00000288065	ensembl	human	known	70_37	silent	SNP	0.219	T
ARPC2	10109	genome.wustl.edu	37	2	219093481	219093481	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:219093481C>T	ENST00000295685.10	+	3	391	c.130C>T	c.(130-132)Cat>Tat	p.H44Y	ARPC2_ENST00000315717.5_Missense_Mutation_p.H44Y	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	44					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GGTCCTCTATCATATTTCAAA	0.413																																																	0													109.0	108.0	108.0					2																	219093481		2203	4300	6503	SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.130C>T	2.37:g.219093481C>T	ENSP00000295685:p.His44Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.H44Y	ENST00000295685.10	37	c.130	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.073191	0.94000	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.91510	3.215	0.80722	D	1	P	0.49961	0.93	B	0.42522	0.39	T	0.81453	-0.0926	9	0.66056	D	0.02	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	44	O15144	ARPC2_HUMAN	Y	44	.	ENSP00000295685:H44Y	H	+	1	0	ARPC2	218801726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.865000	0.98341	0.655000	0.94253	CAT	ARPC2	-	NULL		0.413	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	C	NM_005731		219093481	+1	no_errors	ENST00000295685	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP9B	374868	genome.wustl.edu	37	18	77067172	77067172	+	Missense_Mutation	SNP	G	G	A	rs113878267	byFrequency	TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:77067172G>A	ENST00000426216.2	+	15	1728	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T	ATP9B_ENST00000307671.7_Missense_Mutation_p.A571T	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	571					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A571P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GACTGAGTTCGCAGAGGCTGA	0.557																																																	1	Substitution - Missense(1)	lung(1)						G	THR/ALA	0,4406		0,0,2203	106.0	98.0	101.0		1711	1.2	0.0	18	dbSNP_132	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP9B	NM_198531.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	571/1148	77067172	1,13005	2203	4300	6503	SO:0001583	missense	374868			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1711G>A	18.37:g.77067172G>A	ENSP00000398076:p.Ala571Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A571T	ENST00000426216.2	37	c.1711	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	2.572	-0.299337	0.05532	0.0	1.16E-4	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.95821	-3.82;-3.82	5.01	1.24	0.21308	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.581707	0.18135	N	0.150611	D	0.87192	0.6116	N	0.17082	0.46	0.45025	D	0.998041	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.73375	-0.4002	10	0.19590	T	0.45	.	4.6828	0.12743	0.3007:0.0:0.5599:0.1394	.	571;571	O43861;O43861-2	ATP9B_HUMAN;.	T	571	ENSP00000398076:A571T;ENSP00000304500:A571T	ENSP00000304500:A571T	A	+	1	0	ATP9B	75168160	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	3.189000	0.50965	-0.055000	0.13244	-0.251000	0.11542	GCA	ATP9B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl		0.557	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	G	NM_198531		77067172	+1	no_errors	ENST00000426216	ensembl	human	known	70_37	missense	SNP	0.149	A
ATPAF2	91647	genome.wustl.edu	37	17	17927999	17927999	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:17927999C>T	ENST00000474627.3	-	5	596	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Missense_Mutation_p.R99Q	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	148					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					ACTAATGTCTCGGGCTCCTCC	0.408																																																	0													144.0	123.0	130.0					17																	17927999		2203	4300	6503	SO:0001583	missense	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.442G>A	17.37:g.17927999C>T	ENSP00000417190:p.Glu148Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	pfam_ATP12_ATPase-F1F0-assembly	p.E148K	ENST00000474627.3	37	c.442	CCDS32585.1	17	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164333	0.38217	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.77620	-1.11;-1.11	4.81	4.81	0.61882	ATPase assembly, ATP12, domain (1);	0.487257	0.21968	N	0.066483	T	0.67297	0.2878	L	0.43598	1.365	0.30207	N	0.798113	B	0.31611	0.331	B	0.25884	0.064	T	0.63506	-0.6622	10	0.21014	T	0.42	-15.2909	12.8951	0.58095	0.0:0.7012:0.2988:0.0	.	148	Q8N5M1	ATPF2_HUMAN	K	148	ENSP00000417190:E148K;ENSP00000397198:E148K	ENSP00000434980:E148K	E	-	1	0	ATPAF2	17868724	0.867000	0.29959	1.000000	0.80357	0.944000	0.59088	1.312000	0.33574	2.360000	0.80028	0.561000	0.74099	GAG	ATPAF2	-	pfam_ATP12_ATPase-F1F0-assembly		0.408	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPAF2	HGNC	protein_coding	OTTHUMT00000131934.3	C	NM_145691		17927999	-1	no_errors	ENST00000474627	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD3	8019	genome.wustl.edu	37	9	136901377	136901377	+	Silent	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:136901377G>T	ENST00000303407.7	-	10	1898	c.1713C>A	c.(1711-1713)ccC>ccA	p.P571P	LINC00094_ENST00000605164.1_RNA|BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	571	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGTAGCTCATGGGCAGGCCCT	0.607			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													75.0	69.0	72.0					9																	136901377		2203	4300	6503	SO:0001819	synonymous_variant	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1713C>A	9.37:g.136901377G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P571	ENST00000303407.7	37	c.1713	CCDS6980.1	9																																																																																			BRD3	-	NULL		0.607	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	G	NM_007371		136901377	-1	no_errors	ENST00000303407	ensembl	human	known	70_37	silent	SNP	0.996	T
BRWD3	254065	genome.wustl.edu	37	X	79936929	79936929	+	Missense_Mutation	SNP	G	G	A	rs374994843		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:79936929G>A	ENST00000373275.4	-	40	4781	c.4565C>T	c.(4564-4566)tCg>tTg	p.S1522L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1522					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCGAAGCTCGATGAAGAAAA	0.388																																																	0								G	LEU/SER	0,3835		0,0,0,1632,571	110.0	104.0	106.0		4565	4.1	0.9	X		106	1,6727		0,0,1,2428,1871	no	missense	BRWD3	NM_153252.4	145	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging	1522/1803	79936929	1,10562	2203	4300	6503	SO:0001583	missense	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4565C>T	X.37:g.79936929G>A	ENSP00000362372:p.Ser1522Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S1522L	ENST00000373275.4	37	c.4565	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242373	0.39598	0.0	1.49E-4	ENSG00000165288	ENST00000373275	T	0.55413	0.52	4.06	4.06	0.47325	.	0.205892	0.41396	D	0.000888	T	0.36853	0.0982	L	0.34521	1.04	0.34407	D	0.695935	B	0.32731	0.382	B	0.19148	0.024	T	0.50923	-0.8770	9	.	.	.	-1.5229	13.9697	0.64233	0.0:0.0:1.0:0.0	.	1522	Q6RI45	BRWD3_HUMAN	L	1522	ENSP00000362372:S1522L	.	S	-	2	0	BRWD3	79823585	1.000000	0.71417	0.931000	0.37212	0.400000	0.30750	6.036000	0.70948	1.980000	0.57719	0.415000	0.27848	TCG	BRWD3	-	NULL		0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	G	NM_153252		79936929	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	missense	SNP	0.948	A
C11orf48	79081	genome.wustl.edu	37	11	62430806	62430806	+	Splice_Site	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:62430806C>A	ENST00000431002.2	-	4	2475		c.e4-1		C11orf48_ENST00000354588.3_Splice_Site|C11orf48_ENST00000525675.1_Splice_Site|METTL12_ENST00000532971.1_5'Flank|RP11-831H9.11_ENST00000528405.1_Splice_Site|C11orf48_ENST00000524958.1_Splice_Site|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Splice_Site			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48											endometrium(1)|lung(5)|urinary_tract(1)	7						TGCACTGGACCTGATGGGTAA	0.478																																																	0													96.0	83.0	88.0					11																	62430806		2202	4299	6501	SO:0001630	splice_region_variant	79081			BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.742-1G>T	11.37:g.62430806C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96NA4	Splice_Site	SNP	-	e4-1	ENST00000431002.2	37	c.742-1		11	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650426	0.29336	.	.	ENSG00000255432;ENSG00000162194;ENSG00000162194;ENSG00000162194;ENSG00000162194;ENSG00000162194	ENST00000528405;ENST00000524958;ENST00000354588;ENST00000431002;ENST00000532208;ENST00000525675	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4846	0.61357	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf48;RP11-831H9.11	62187382	1.000000	0.71417	0.994000	0.49952	0.331000	0.28603	3.228000	0.51270	2.309000	0.77851	0.462000	0.41574	.	C11orf48	-	-		0.478	C11orf48-004	KNOWN	basic	protein_coding	C11orf48	HGNC	protein_coding	OTTHUMT00000395233.1	C	NM_024099	Intron	62430806	-1	no_errors	ENST00000431002	ensembl	human	known	70_37	splice_site	SNP	0.997	A
C16orf96	342346	genome.wustl.edu	37	16	4606764	4606764	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:4606764G>A	ENST00000444310.4	+	1	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						CGACAAGTTGGAGAACCAGCT	0.637																																																	0													36.0	48.0	44.0					16																	4606764		692	1591	2283	SO:0001583	missense	342346				CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.274G>A	16.37:g.4606764G>A	ENSP00000415027:p.Glu92Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E92K	ENST00000444310.4	37	c.274	CCDS53986.1	16	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394245	0.42410	.	.	ENSG00000205832	ENST00000444310	T	0.21932	1.98	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000067	T	0.46190	0.1380	M	0.69823	2.125	0.32507	N	0.538067	D	0.89917	1.0	D	0.87578	0.998	T	0.57551	-0.7792	10	0.72032	D	0.01	-28.4255	14.9157	0.70795	0.0:0.0:1.0:0.0	.	92	A6NNT2	CP096_HUMAN	K	92	ENSP00000415027:E92K	ENSP00000415027:E92K	E	+	1	0	C16orf96	4546765	1.000000	0.71417	0.179000	0.23059	0.003000	0.03518	6.224000	0.72265	2.648000	0.89879	0.655000	0.94253	GAG	C16orf96	-	NULL		0.637	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C16orf96	HGNC	protein_coding	OTTHUMT00000432384.1	G	NM_001145011		4606764	+1	no_errors	ENST00000444310	ensembl	human	known	70_37	missense	SNP	0.791	A
CAPN3	825	genome.wustl.edu	37	15	42676699	42676699	+	Nonsense_Mutation	SNP	C	C	T	rs121434545		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:42676699C>T	ENST00000397163.3	+	2	547	c.328C>T	c.(328-330)Cga>Tga	p.R110*	CAPN3_ENST00000349748.3_Nonsense_Mutation_p.R110*|CAPN3_ENST00000357568.3_Nonsense_Mutation_p.R110*|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Nonsense_Mutation_p.R23*|CAPN3_ENST00000318023.7_Nonsense_Mutation_p.R110*	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	110	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CGAGAATCCCCGATTTATCAT	0.418																																																	0			GRCh37	CI076942|CM950189	CAPN3	I|M	rs121434545						135.0	129.0	131.0					15																	42676699		2203	4299	6502	SO:0001587	stop_gained	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.328C>T	15.37:g.42676699C>T	ENSP00000380349:p.Arg110*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R110*	ENST00000397163.3	37	c.328	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.209405	0.97376	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	.	.	.	5.5	2.17	0.27698	.	0.084750	0.49916	U	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	15.8365	0.78801	0.3642:0.6358:0.0:0.0	.	.	.	.	X	23;110;110;110;110	.	ENSP00000326281:R110X	R	+	1	2	CAPN3	40463991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.620000	0.46410	0.657000	0.30906	0.650000	0.86243	CGA	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.418	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42676699	+1	no_errors	ENST00000397163	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CASZ1	54897	genome.wustl.edu	37	1	10725312	10725312	+	Silent	SNP	G	G	T	rs550872926		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:10725312G>T	ENST00000377022.3	-	5	650	c.333C>A	c.(331-333)cgC>cgA	p.R111R	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Silent_p.R111R	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	111					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGGCCCTCGCGGGCAATCC	0.672																																																	0													41.0	47.0	45.0					1																	10725312		2203	4300	6503	SO:0001819	synonymous_variant	54897			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.333C>A	1.37:g.10725312G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R111	ENST00000377022.3	37	c.333	CCDS41246.1	1																																																																																			CASZ1	-	NULL		0.672	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	G	NM_017766		10725312	-1	no_errors	ENST00000377022	ensembl	human	known	70_37	silent	SNP	0.029	T
CCDC115	84317	genome.wustl.edu	37	2	131097203	131097203	+	Intron	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:131097203G>T	ENST00000259229.2	-	5	654				IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000409127.1_Intron|CCDC115_ENST00000437688.2_Missense_Mutation_p.T183K	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115							endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					ttttgctgatgtctctgctgg	0.557																																																	0																																										SO:0001627	intron_variant	84317			AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.431-398C>A	2.37:g.131097203G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ47|Q9BR88	Missense_Mutation	SNP	NULL	p.T188K	ENST00000259229.2	37	c.563	CCDS2159.1	2	.	.	.	.	.	.	.	.	.	.	G	9.684	1.149958	0.21371	.	.	ENSG00000136710	ENST00000437688	.	.	.	1.64	0.736	0.18307	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.09310	N	1	B;B	0.30889	0.299;0.299	B;B	0.19391	0.025;0.025	T	0.19516	-1.0303	7	0.87932	D	0	.	4.0966	0.09993	0.2255:0.0:0.7745:0.0	.	183;188	B4DJ47;F8WCZ3	.;.	K	183	.	ENSP00000399756:T183K	T	-	2	0	CCDC115	130813673	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.248000	0.08854	0.273000	0.22049	0.407000	0.27541	ACA	CCDC115	-	NULL		0.557	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC115	HGNC	protein_coding	OTTHUMT00000254524.2	G	NM_032357		131097203	-1	no_errors	ENST00000442217	ensembl	human	known	70_37	missense	SNP	0.000	T
CFP	5199	genome.wustl.edu	37	X	47486553	47486553	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:47486553C>A	ENST00000396992.3	-	5	873	c.753G>T	c.(751-753)ctG>ctT	p.L251L	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Silent_p.L251L|CFP_ENST00000377005.2_Silent_p.L251L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	251	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCAGGGTGGCAGGCCGGTGC	0.617																																																	0													30.0	32.0	31.0					X																	47486553		2203	4299	6502	SO:0001819	synonymous_variant	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.753G>T	X.37:g.47486553C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O15134|O15135|O15136|O75826	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L251	ENST00000396992.3	37	c.753	CCDS14282.1	X																																																																																			CFP	-	pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.617	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	C	NM_002621		47486553	-1	no_errors	ENST00000247153	ensembl	human	known	70_37	silent	SNP	0.955	A
CLDN11	5010	genome.wustl.edu	37	3	170425957	170425957	+	3'UTR	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:170425957G>T	ENST00000486975.1	+	0	715							O75508	CLD11_HUMAN	claudin 11						axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATGGAATGGGAACGCCAATG	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	5010			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000486975.1:c.*18G>T	3.37:g.170425957G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7C1|D3DNQ5|Q5U0P3	RNA	SNP	-	NULL	ENST00000486975.1	37	NULL		3																																																																																			CLDN11	-	-		0.443	CLDN11-002	PUTATIVE	basic	protein_coding	CLDN11	HGNC	protein_coding	OTTHUMT00000352414.1	G	NM_005602		170425957	+1	no_errors	ENST00000480067	ensembl	human	known	70_37	rna	SNP	0.001	T
CLEC10A	10462	genome.wustl.edu	37	17	6978956	6978956	+	Intron	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:6978956G>T	ENST00000254868.4	-	7	1004				CLEC10A_ENST00000571664.1_Intron|CLEC10A_ENST00000576617.1_Missense_Mutation_p.Q230K|CLEC10A_ENST00000416562.2_Intron	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A						endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						cagtcattctggaagctccca	0.468																																																	0																																										SO:0001627	intron_variant	10462			D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.675+93C>A	17.37:g.6978956G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold	p.Q230K	ENST00000254868.4	37	c.688	CCDS11087.1	17																																																																																			CLEC10A	-	NULL		0.468	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	CLEC10A	HGNC	protein_coding	OTTHUMT00000439837.2	G	NM_006344		6978956	-1	no_errors	ENST00000576617	ensembl	human	known	70_37	missense	SNP	0.001	T
CLPB	81570	genome.wustl.edu	37	11	72006666	72006666	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:72006666C>G	ENST00000294053.3	-	13	1619	c.1446G>C	c.(1444-1446)aaG>aaC	p.K482N	CLPB_ENST00000340729.5_Missense_Mutation_p.K423N|CLPB_ENST00000543042.1_Missense_Mutation_p.K281N|CLPB_ENST00000538039.1_Missense_Mutation_p.K452N|CLPB_ENST00000437826.2_Missense_Mutation_p.K437N|CLPB_ENST00000538021.1_Missense_Mutation_p.K90N	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	482					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						AATCAATGGTCTTCCCTTTTC	0.567																																																	0													134.0	85.0	101.0					11																	72006666		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1446G>C	11.37:g.72006666C>G	ENSP00000294053:p.Lys482Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B	p.K482N	ENST00000294053.3	37	c.1446	CCDS8215.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.96|18.96	3.734469|3.734469	0.69189|0.69189	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021|ENST00000544382	T;T;T;T;T;T;T|.	0.44482|.	0.92;0.92;0.92;0.92;0.92;0.92;0.92|.	5.15|5.15	3.29|3.29	0.37713|0.37713	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56746|0.56746	0.2006|0.2006	L|L	0.46947|0.46947	1.48|1.48	0.50171|0.50171	D|D	0.999854|0.999854	P;P;P;P;D;P|.	0.76494|.	0.799;0.928;0.943;0.929;0.999;0.818|.	P;P;P;P;D;B|.	0.74674|.	0.575;0.547;0.775;0.614;0.984;0.445|.	T|T	0.49624|0.49624	-0.8920|-0.8920	10|5	0.87932|.	D|.	0|.	-21.4998|-21.4998	10.307|10.307	0.43687|0.43687	0.0:0.8394:0.0:0.1606|0.0:0.8394:0.0:0.1606	.|.	281;423;437;452;482;90|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777|.	.;.;.;.;CLPB_HUMAN;.|.	N|T	482;452;487;423;437;281;90|260	ENSP00000294053:K482N;ENSP00000441518:K452N;ENSP00000443822:K487N;ENSP00000340385:K423N;ENSP00000407296:K437N;ENSP00000439746:K281N;ENSP00000445180:K90N|.	ENSP00000294053:K482N|.	K|R	-|-	3|2	2|0	CLPB|CLPB	71684314|71684314	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.720000|0.720000	0.25896|0.25896	0.585000|0.585000	0.29608|0.29608	0.561000|0.561000	0.74099|0.74099	AAG|AGA	CLPB	-	pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Sigma_54_int,smart_AAA+_ATPase		0.567	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1	C	NM_030813		72006666	-1	no_errors	ENST00000294053	ensembl	human	known	70_37	missense	SNP	1.000	G
CNTNAP2	26047	genome.wustl.edu	37	7	147964216	147964216	+	Missense_Mutation	SNP	T	T	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:147964216T>C	ENST00000361727.3	+	21	3989	c.3473T>C	c.(3472-3474)aTa>aCa	p.I1158T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.I217T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1158	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAAAAGTTATAGGTAAGAAT	0.403										HNSCC(39;0.1)																																							0													140.0	129.0	133.0					7																	147964216		2203	4300	6503	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3473T>C	7.37:g.147964216T>C	ENSP00000354778:p.Ile1158Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.I1158T	ENST00000361727.3	37	c.3473	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259994	0.59321	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.77358	-1.09;-1.09	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.064020	0.64402	D	0.000004	T	0.59059	0.2166	N	0.12746	0.255	0.36169	D	0.848649	B	0.15930	0.015	B	0.15484	0.013	T	0.60078	-0.7333	10	0.12766	T	0.61	.	12.0609	0.53562	0.0:0.0:0.0:1.0	.	1158	Q9UHC6	CNTP2_HUMAN	T	1158;217	ENSP00000354778:I1158T;ENSP00000440732:I217T	ENSP00000354778:I1158T	I	+	2	0	CNTNAP2	147595149	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.236000	0.58675	2.108000	0.64289	0.533000	0.62120	ATA	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	T			147964216	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	C
COL4A3	1285	genome.wustl.edu	37	2	228111453	228111453	+	Splice_Site	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:228111453C>T	ENST00000396578.3	+	7	602	c.440C>T	c.(439-441)cCg>cTg	p.P147L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	147	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGGATCCCGGTAGGTTTG	0.438																																																	0													61.0	60.0	61.0					2																	228111453		1840	4086	5926	SO:0001630	splice_region_variant	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.441+1C>T	2.37:g.228111453C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P147L	ENST00000396578.3	37	c.440	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	8.605	0.887768	0.17540	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96685	-4.09	5.49	-0.807	0.10872	.	0.244896	0.28927	N	0.013683	D	0.93625	0.7964	M	0.83603	2.65	0.52501	D	0.999957	P;P;P;P	0.49559	0.925;0.75;0.803;0.682	B;B;B;B	0.39935	0.314;0.127;0.095;0.106	D	0.87279	0.2291	10	0.54805	T	0.06	.	3.6298	0.08127	0.269:0.4225:0.0:0.3085	.	147;147;147;147	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	147	ENSP00000379823:P147L	ENSP00000323334:P147L	P	+	2	0	COL4A3	227819697	0.075000	0.21258	0.554000	0.28268	0.070000	0.16714	0.027000	0.13621	-0.509000	0.06532	-0.766000	0.03442	CCG	COL4A3	-	pfam_Collagen		0.438	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	C	NM_000091	Missense_Mutation	228111453	+1	no_errors	ENST00000396578	ensembl	human	known	70_37	missense	SNP	0.801	T
CPNE1	8904	genome.wustl.edu	37	20	34219869	34219869	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr20:34219869C>T	ENST00000317619.3	-	8	929	c.535G>A	c.(535-537)Gag>Aag	p.E179K	CPNE1_ENST00000397442.1_Missense_Mutation_p.E179K|CPNE1_ENST00000397446.1_Missense_Mutation_p.E179K|CPNE1_ENST00000317677.5_Missense_Mutation_p.E184K|CPNE1_ENST00000397445.1_Missense_Mutation_p.E179K|CPNE1_ENST00000397443.1_Missense_Mutation_p.E179K|CPNE1_ENST00000352393.4_Missense_Mutation_p.E179K			Q99829	CPNE1_HUMAN	copine I	179	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCTCATACCTCAGATCTGTAC	0.542																																																	0													60.0	58.0	58.0					20																	34219869		2203	4300	6503	SO:0001583	missense	8904			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.535G>A	20.37:g.34219869C>T	ENSP00000326126:p.Glu179Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.E184K	ENST00000317619.3	37	c.550	CCDS13260.1	20	.	.	.	.	.	.	.	.	.	.	c	22.9	4.344142	0.82022	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806;ENST00000420363;ENST00000434795	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.96	4.96	0.65561	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.213388	0.38663	U	0.001601	T	0.76828	0.4042	L	0.43646	1.37	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.996;0.996;0.933;0.982	D;D;D;P;P	0.73380	0.98;0.976;0.947;0.856;0.755	T	0.78912	-0.2017	10	0.72032	D	0.01	-12.9932	17.9872	0.89159	0.0:1.0:0.0:0.0	.	184;179;179;179;159	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	K	179;184;179;179;179;179;179;179;155;155;179;155;179;179;179	ENSP00000336945:E179K;ENSP00000317257:E184K;ENSP00000326126:E179K;ENSP00000380588:E179K;ENSP00000380587:E179K;ENSP00000380585:E179K;ENSP00000380584:E179K;ENSP00000415597:E179K;ENSP00000390626:E155K;ENSP00000416962:E155K;ENSP00000404355:E179K;ENSP00000389662:E155K;ENSP00000387434:E179K;ENSP00000401915:E179K;ENSP00000409794:E179K	ENSP00000326126:E179K	E	-	1	0	CPNE1	33683283	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.425000	0.80255	2.581000	0.87130	0.558000	0.71614	GAG	CPNE1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.542	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	C	NM_152930		34219869	-1	no_errors	ENST00000317677	ensembl	human	known	70_37	missense	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3063032	3063032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:3063032C>A	ENST00000520002.1	-	32	5536	c.4981G>T	c.(4981-4983)Gaa>Taa	p.E1661*	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E1660*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E1661*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E1661*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.E1660*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E1661*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E1660*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1661	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACCGAATTCCTTTGGTACC	0.383																																																	0													69.0	66.0	67.0					8																	3063032		1844	4092	5936	SO:0001587	stop_gained	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.4981G>T	8.37:g.3063032C>A	ENSP00000430733:p.Glu1661*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Nonsense_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.E1661*	ENST00000520002.1	37	c.4981		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.571990|12.571990	0.99679|0.99679	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.071868|.	0.56097|.	D|.	0.000031|.	.|T	.|0.76083	.|0.3938	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74734	.|-0.3565	.|3	0.41790|.	T|.	0.15|.	.|.	19.2736|19.2736	0.94021|0.94021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1661;1661;1523;1660;1660;1660|1140	.|.	ENSP00000320445:E1523X|.	E|G	-|-	1|2	0|0	CSMD1|CSMD1	3050439|3050439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.481000|0.481000	0.33189|0.33189	3.932000|3.932000	0.56537|0.56537	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	GAA|GGA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3063032	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113812431	113812431	+	Silent	SNP	G	G	A	rs530785795	byFrequency	TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:113812431G>A	ENST00000297405.5	-	13	2176	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	CSMD3_ENST00000455883.2_Silent_p.D540D|CSMD3_ENST00000343508.3_Silent_p.D604D|CSMD3_ENST00000352409.3_Silent_p.D644D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	644	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAACACTTTCGTCCGTTTGAA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	23	0.00459265	0.0	0.0	5008	,	,		16218	0.0		0.0	False		,,,				2504	0.0235																0													145.0	128.0	133.0					8																	113812431		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1932C>T	8.37:g.113812431G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Silent	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.D644	ENST00000297405.5	37	c.1932	CCDS6315.1	8																																																																																			CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113812431	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	A
DDC	1644	genome.wustl.edu	37	7	50605581	50605581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:50605581C>A	ENST00000444124.2	-	4	612	c.412G>T	c.(412-414)Gga>Tga	p.G138*	DDC_ENST00000380984.4_Nonsense_Mutation_p.G138*|DDC_ENST00000357936.5_Nonsense_Mutation_p.G138*|DDC_ENST00000426377.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Nonsense_Mutation_p.G138*	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	138	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCCCCTTCTCCAGCTTTCTCA	0.562																																																	0													120.0	110.0	114.0					7																	50605581		2203	4300	6503	SO:0001587	stop_gained	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.412G>T	7.37:g.50605581C>A	ENSP00000403644:p.Gly138*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Nonsense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.G138*	ENST00000444124.2	37	c.412	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.887497	0.97068	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000444124;ENST00000380984	.	.	.	5.72	5.72	0.89469	.	0.047231	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.7141	19.8646	0.96799	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000350616:G138X	G	-	1	0	DDC	50573075	0.991000	0.36638	0.684000	0.30055	0.360000	0.29518	3.209000	0.51122	2.702000	0.92279	0.655000	0.94253	GGA	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.562	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	C			50605581	-1	no_errors	ENST00000357936	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DDX21	9188	genome.wustl.edu	37	10	70738628	70738628	+	Missense_Mutation	SNP	A	A	G	rs201054642		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr10:70738628A>G	ENST00000354185.4	+	13	2031	c.1933A>G	c.(1933-1935)Att>Gtt	p.I645V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	645					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAGTGCTCAATTGAAATGCC	0.353																																																	0								A	VAL/ILE	0,4406		0,0,2203	103.0	105.0	104.0		1933	-1.0	0.8	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX21	NM_004728.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	645/784	70738628	1,13005	2203	4300	6503	SO:0001583	missense	9188			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1933A>G	10.37:g.70738628A>G	ENSP00000346120:p.Ile645Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I645V	ENST00000354185.4	37	c.1933	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	A	2.101	-0.405961	0.04832	0.0	1.16E-4	ENSG00000165732	ENST00000354185	T	0.15603	2.41	5.26	-1.02	0.10135	GUCT (1);	0.408050	0.27284	N	0.020061	T	0.05547	0.0146	N	0.02011	-0.69	0.19945	N	0.99994	B	0.02656	0.0	B	0.06405	0.002	T	0.38520	-0.9657	10	0.25106	T	0.35	-17.4638	11.3398	0.49527	0.5088:0.0:0.4912:0.0	.	645	Q9NR30	DDX21_HUMAN	V	645	ENSP00000346120:I645V	ENSP00000346120:I645V	I	+	1	0	DDX21	70408634	0.224000	0.23674	0.778000	0.31720	0.447000	0.32167	0.708000	0.25719	-0.069000	0.12931	-0.899000	0.02877	ATT	DDX21	-	pfam_GUCT		0.353	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	A	NM_004728		70738628	+1	no_errors	ENST00000354185	ensembl	human	known	70_37	missense	SNP	0.173	G
DENND4C	55667	genome.wustl.edu	37	9	19360377	19360377	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:19360377C>A	ENST00000380432.2	+	24	4474	c.4441C>A	c.(4441-4443)Caa>Aaa	p.Q1481K	DENND4C_ENST00000602925.1_Missense_Mutation_p.Q1717K|DENND4C_ENST00000434457.2_Missense_Mutation_p.Q1766K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1481					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTCATCAATCAACATCCAAT	0.393																																																	0													177.0	163.0	168.0					9																	19360377		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4441C>A	9.37:g.19360377C>A	ENSP00000369797:p.Gln1481Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q1481K	ENST00000380432.2	37	c.4441		9	.	.	.	.	.	.	.	.	.	.	C	35	5.425638	0.96131	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.24151	1.87;1.87	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.77103	2.36	0.80722	D	1	D;D;D	0.71674	0.997;0.995;0.998	D;D;D	0.75484	0.96;0.946;0.986	T	0.51585	-0.8687	9	.	.	.	-13.9673	20.2576	0.98430	0.0:1.0:0.0:0.0	.	811;663;1481	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	K	1481;954;663;811;954;663;478	ENSP00000305795:Q954K;ENSP00000443804:Q811K	.	Q	+	1	0	DENND4C	19350377	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.055000	0.71103	2.783000	0.95769	0.655000	0.94253	CAA	DENND4C	-	NULL		0.393	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		C	NM_017925		19360377	+1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	A
DIDO1	11083	genome.wustl.edu	37	20	61513055	61513055	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr20:61513055G>T	ENST00000266070.4	-	16	4578	c.4253C>A	c.(4252-4254)gCa>gAa	p.A1418E	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1418E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1418					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGCTCGGCTGCAGCTGCTTC	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													84.0	91.0	89.0					20																	61513055		2203	4298	6501	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4253C>A	20.37:g.61513055G>T	ENSP00000266070:p.Ala1418Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.A1418E	ENST00000266070.4	37	c.4253	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.083830	0.01888	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08282	3.11;3.11	0.235	0.235	0.15431	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.33694	0.421	B	0.26864	0.074	T	0.44112	-0.9349	8	0.31617	T	0.26	.	.	.	.	.	1418	Q9BTC0	DIDO1_HUMAN	E	1418	ENSP00000266070:A1418E;ENSP00000378752:A1418E	ENSP00000266070:A1418E	A	-	2	0	DIDO1	60983500	0.000000	0.05858	0.060000	0.19600	0.013000	0.08279	-0.015000	0.12634	0.308000	0.22923	0.313000	0.20887	GCA	DIDO1	-	NULL		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	G	NM_080796		61513055	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.036	T
DNAH3	55567	genome.wustl.edu	37	16	21031189	21031189	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:21031189C>T	ENST00000261383.3	-	41	5778	c.5779G>A	c.(5779-5781)Gaa>Aaa	p.E1927K	DNAH3_ENST00000415178.1_Missense_Mutation_p.M1883I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1927					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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCCTGATTTCATCTAAAAGT	0.473																																																	0													63.0	61.0	61.0					16																	21031189		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5779G>A	16.37:g.21031189C>T	ENSP00000261383:p.Glu1927Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.E1927K	ENST00000261383.3	37	c.5779	CCDS10594.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.792548|4.792548	0.90453|0.90453	.|.	.|.	ENSG00000158486|ENSG00000158486	ENST00000261383|ENST00000415178	T|T	0.26067|0.21932	1.76|1.98	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.785759|.	0.11870|.	N|.	0.521574|.	T|T	0.32255|0.32255	0.0823|0.0823	M|M	0.64997|0.64997	1.995|1.995	0.26539|0.26539	N|N	0.974118|0.974118	D|.	0.54964|.	0.969|.	P|.	0.46208|.	0.507|.	T|T	0.35425|0.35425	-0.9789|-0.9789	10|7	0.21540|0.08599	T|T	0.41|0.76	.|.	19.3762|19.3762	0.94510|0.94510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1927|.	Q8TD57|.	DYH3_HUMAN|.	K|I	1927|1883	ENSP00000261383:E1927K|ENSP00000394245:M1883I	ENSP00000261383:E1927K|ENSP00000394245:M1883I	E|M	-|-	1|3	0|0	DNAH3|DNAH3	20938690|20938690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	6.837000|6.837000	0.75354|0.75354	2.597000|2.597000	0.87782|0.87782	0.558000|0.558000	0.71614|0.71614	GAA|ATG	DNAH3	-	NULL		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	C	NM_017539		21031189	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11671931	11671931	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:11671931G>T	ENST00000262442.4	+	37	7400	c.7332G>T	c.(7330-7332)gaG>gaT	p.E2444D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2444D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2444	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGACCCCGAGATGCCCTTGC	0.562																																																	0													71.0	62.0	65.0					17																	11671931		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7332G>T	17.37:g.11671931G>T	ENSP00000262442:p.Glu2444Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	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.E2444D	ENST00000262442.4	37	c.7332	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	2.134	-0.398397	0.04865	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.37235	1.21;1.21	5.72	1.31	0.21738	.	1.053760	0.07506	N	0.908124	T	0.14399	0.0348	N	0.04297	-0.235	0.80722	D	1	B	0.06786	0.001	B	0.15870	0.014	T	0.40701	-0.9549	10	0.02654	T	1	.	6.2555	0.20872	0.3271:0.2849:0.388:0.0	.	2444	Q9NYC9	DYH9_HUMAN	D	2444;2444;1026	ENSP00000262442:E2444D;ENSP00000414874:E2444D	ENSP00000262442:E2444D	E	+	3	2	DNAH9	11612656	0.025000	0.19082	0.995000	0.50966	0.936000	0.57629	0.043000	0.13971	0.354000	0.24105	-0.140000	0.14226	GAG	DNAH9	-	NULL		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11671931	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	missense	SNP	0.640	T
DNAJC27	51277	genome.wustl.edu	37	2	25180768	25180768	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:25180768C>T	ENST00000264711.2	-	4	505	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Missense_Mutation_p.A35T	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	106					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCATCAAGGGCGTCAAAGGAG	0.428																																																	0													111.0	101.0	105.0					2																	25180768		2203	4300	6503	SO:0001583	missense	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.316G>A	2.37:g.25180768C>T	ENSP00000264711:p.Ala106Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.A106T	ENST00000264711.2	37	c.316	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641826	0.29157	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.76839	-1.05;-1.05	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.045170	0.85682	D	0.000000	T	0.65322	0.2680	L	0.41573	1.285	0.58432	D	0.999999	B;B	0.19200	0.027;0.034	B;B	0.18871	0.022;0.023	T	0.57452	-0.7809	10	0.02654	T	1	-23.004	12.6711	0.56868	0.165:0.835:0.0:0.0	.	106;106	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	T	106;35	ENSP00000264711:A106T;ENSP00000440086:A35T	ENSP00000264711:A106T	A	-	1	0	DNAJC27	25034272	0.989000	0.36119	0.996000	0.52242	0.869000	0.49853	2.816000	0.48026	2.750000	0.94351	0.563000	0.77884	GCC	DNAJC27	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.428	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	C	NM_016544		25180768	-1	no_errors	ENST00000264711	ensembl	human	known	70_37	missense	SNP	0.998	T
DPH2	1802	genome.wustl.edu	37	1	44436297	44436297	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:44436297G>T	ENST00000255108.3	+	2	349	c.177G>T	c.(175-177)ttG>ttT	p.L59F	DPH2_ENST00000396758.2_Missense_Mutation_p.L59F|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	59					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACCAGCTATTGGGAGATGCTG	0.527																																																	0													247.0	244.0	245.0					1																	44436297		2203	4300	6503	SO:0001583	missense	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.177G>T	1.37:g.44436297G>T	ENSP00000255108:p.Leu59Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.L59F	ENST00000255108.3	37	c.177	CCDS504.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346161	0.82022	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	T;T	0.52057	0.68;0.68	5.7	1.51	0.23008	.	0.000000	0.64402	D	0.000002	T	0.66066	0.2752	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64575	-0.6375	10	0.87932	D	0	-8.1015	2.5403	0.04724	0.2831:0.1191:0.4763:0.1215	.	59;59	A8MVC9;Q9BQC3	.;DPH2_HUMAN	F	59	ENSP00000255108:L59F;ENSP00000379981:L59F	ENSP00000255108:L59F	L	+	3	2	DPH2	44208884	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	0.741000	0.26202	0.756000	0.33013	0.651000	0.88453	TTG	DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu		0.527	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	G	NM_001384		44436297	+1	no_errors	ENST00000255108	ensembl	human	known	70_37	missense	SNP	0.978	T
E2F8	79733	genome.wustl.edu	37	11	19251245	19251245	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:19251245G>A	ENST00000527884.1	-	10	1881	c.1649C>T	c.(1648-1650)tCt>tTt	p.S550F	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.S550F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	550					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTAGCTTTAGAAGAGTGGGT	0.572																																																	0													117.0	112.0	114.0					11																	19251245		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1649C>T	11.37:g.19251245G>A	ENSP00000434199:p.Ser550Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.S550F	ENST00000527884.1	37	c.1649	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	9.537	1.112243	0.20795	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.18960	2.18;2.18	5.63	4.7	0.59300	.	0.546673	0.21447	N	0.074392	T	0.28764	0.0713	M	0.63428	1.95	0.33785	D	0.624765	B	0.26876	0.162	B	0.33890	0.172	T	0.42430	-0.9452	10	0.72032	D	0.01	-9.4881	14.4725	0.67526	0.0:0.1469:0.8531:0.0	.	550	A0AVK6	E2F8_HUMAN	F	550	ENSP00000434199:S550F;ENSP00000250024:S550F	ENSP00000250024:S550F	S	-	2	0	E2F8	19207821	1.000000	0.71417	0.626000	0.29213	0.233000	0.25261	1.609000	0.36858	1.348000	0.45733	0.655000	0.94253	TCT	E2F8	-	NULL		0.572	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	G	NM_024680		19251245	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	0.877	A
ELN	2006	genome.wustl.edu	37	7	73452044	73452044	+	Silent	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:73452044G>T	ENST00000252034.7	+	4	570	c.171G>T	c.(169-171)ggG>ggT	p.G57G	ELN_ENST00000458204.1_Silent_p.G47G|ELN_ENST00000320399.6_Silent_p.G57G|ELN_ENST00000380584.4_Silent_p.G57G|ELN_ENST00000429192.1_Silent_p.G57G|ELN_ENST00000414324.1_Silent_p.G47G|ELN_ENST00000445912.1_Silent_p.G57G|ELN_ENST00000380553.4_Silent_p.G57G|ELN_ENST00000380575.4_Silent_p.G47G|ELN_ENST00000380562.4_Silent_p.G57G|ELN_ENST00000357036.5_Silent_p.G57G|ELN_ENST00000380576.5_Silent_p.G57G|ELN_ENST00000358929.4_Silent_p.G57G|ELN_ENST00000320492.7_Silent_p.G57G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	57					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGCGCTGGGGCCTGGAGGCA	0.587			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													82.0	60.0	68.0					7																	73452044		2203	4300	6503	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.171G>T	7.37:g.73452044G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.G57	ENST00000252034.7	37	c.171	CCDS5562.2	7																																																																																			ELN	-	NULL		0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501		73452044	+1	no_errors	ENST00000358929	ensembl	human	known	70_37	silent	SNP	0.644	T
DNM1P47	100216544	genome.wustl.edu	37	15	102299987	102299987	+	RNA	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:102299987C>A	ENST00000561463.1	+	0	8033									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.592																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299987C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.592	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	C	NG_009149		102299987	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.997	A
RP11-652G5.1	0	genome.wustl.edu	37	16	32617021	32617021	+	RNA	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:32617021C>T	ENST00000562976.1	+	0	369																											AGGAAAATTTCTAGTGTTGAC	0.418																																																	0																																												0																															16.37:g.32617021C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562976.1	37	NULL		16																																																																																			RP11-652G5.1	-	-		0.418	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	Clone_based_vega_gene	pseudogene	OTTHUMT00000432347.1	C			32617021	+1	no_errors	ENST00000562976	ensembl	human	known	70_37	rna	SNP	0.000	T
SDCCAG3P1	388478	genome.wustl.edu	37	18	57678353	57678353	+	lincRNA	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:57678353C>T	ENST00000585691.1	+	0	571																											GGTGACGCCCCGGCGGCGCGG	0.711																																																	0																																												0																															18.37:g.57678353C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000585691.1	37	NULL		18																																																																																			RP11-866E20.3	-	-		0.711	RP11-866E20.3-001	KNOWN	basic	lincRNA	ENSG00000267462	Clone_based_vega_gene	lincRNA	OTTHUMT00000449078.1	C			57678353	+1	no_errors	ENST00000585691	ensembl	human	known	70_37	rna	SNP	0.005	T
MMP11	4320	genome.wustl.edu	37	22	24125919	24125919	+	3'UTR	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr22:24125919G>T	ENST00000215743.3	+	0	1707				AP000349.1_ENST00000598975.1_Missense_Mutation_p.A76E	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)						basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	GTGGTCACCTGCCAGCGACTG	0.632																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.*188G>T	22.37:g.24125919G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	NULL	p.A76E	ENST00000215743.3	37	c.227	CCDS13816.1	22																																																																																			AP000349.1	-	NULL		0.632	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267954	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000319891.2	G	NM_005940		24125919	-1	no_errors	ENST00000598975	ensembl	human	known	70_37	missense	SNP	1.000	T
LAIR1	3903	genome.wustl.edu	37	19	54863963	54863963	+	IGR	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:54863963G>T	ENST00000391742.2	-	0	1610				CTD-2587H19.1_ENST00000596234.1_lincRNA			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ATTAAACATGGCTCTTCCCCC	0.622																																																	0													91.0	97.0	95.0					19																	54863963		692	1591	2283	SO:0001628	intergenic_variant	0			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545		19.37:g.54863963G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000391742.2	37	NULL	CCDS12891.1	19																																																																																			CTD-2587H19.1	-	-		0.622	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268802	Clone_based_vega_gene	protein_coding	OTTHUMT00000140506.1	G			54863963	-1	no_errors	ENST00000596234	ensembl	human	known	70_37	rna	SNP	0.018	T
EPDR1	54749	genome.wustl.edu	37	7	37960261	37960261	+	5'UTR	SNP	G	G	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:37960261G>C	ENST00000199448.4	+	0	99				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Missense_Mutation_p.R27T|EPDR1_ENST00000476620.1_Intron	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CGAAGCGGCAGAAGGCAGTGG	0.622																																																	0													22.0	26.0	25.0					7																	37960261		2202	4300	6502	SO:0001623	5_prime_UTR_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-281G>C	7.37:g.37960261G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.R27T	ENST00000199448.4	37	c.80	CCDS5454.2	7	.	.	.	.	.	.	.	.	.	.	G	5.580	0.291901	0.10567	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	0.14	0.14	0.14804	.	.	.	.	.	T	0.15652	0.0377	N	0.08118	0	0.20638	N	0.99987	B	0.06786	0.001	B	0.04013	0.001	T	0.28490	-1.0042	7	0.20519	T	0.43	.	.	.	.	.	27	A4D1W8	.	T	27;1	.	ENSP00000199448:R27T	R	+	2	0	EPDR1	37926786	0.016000	0.18221	0.177000	0.23020	0.058000	0.15608	1.776000	0.38594	0.182000	0.20032	0.185000	0.17295	AGA	EPDR1	-	NULL		0.622	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	G	NM_017549		37960261	+1	no_errors	ENST00000559325	ensembl	human	known	70_37	missense	SNP	0.205	C
FAM172A	83989	genome.wustl.edu	37	5	93217320	93217320	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:93217320C>A	ENST00000395965.3	-	7	784	c.642G>T	c.(640-642)caG>caT	p.Q214H	FAM172A_ENST00000509739.1_Missense_Mutation_p.Q67H|FAM172A_ENST00000505869.1_Missense_Mutation_p.Q104H|FAM172A_ENST00000509163.1_Missense_Mutation_p.Q168H	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	214						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CAGATGATGACTGTACGTGTA	0.348																																																	0													178.0	169.0	172.0					5																	93217320		2203	4299	6502	SO:0001583	missense	83989				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.642G>T	5.37:g.93217320C>A	ENSP00000379294:p.Gln214His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.Q214H	ENST00000395965.3	37	c.642	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026817	0.35797	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.42131	0.98;2.24;2.24;0.98	4.63	1.75	0.24633	Arb2 domain (1);	0.644709	0.16854	N	0.196806	T	0.33147	0.0853	L	0.50333	1.59	0.37958	D	0.932872	B;B;B;B	0.10296	0.001;0.001;0.0;0.003	B;B;B;B	0.08055	0.002;0.001;0.001;0.003	T	0.13308	-1.0514	10	0.46703	T	0.11	-8.5951	6.4389	0.21839	0.147:0.6916:0.0:0.1614	.	67;104;214;214	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	H	214;104;67;168	ENSP00000379294:Q214H;ENSP00000426284:Q104H;ENSP00000421834:Q67H;ENSP00000423841:Q168H	ENSP00000379294:Q214H	Q	-	3	2	FAM172A	93243076	0.764000	0.28473	0.958000	0.39756	0.976000	0.68499	-0.036000	0.12185	0.112000	0.17975	0.650000	0.86243	CAG	FAM172A	-	pfam_Arb2_domain		0.348	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	C	NM_032042		93217320	-1	no_errors	ENST00000395965	ensembl	human	known	70_37	missense	SNP	0.999	A
FAM86C2P	645332	genome.wustl.edu	37	11	67560476	67560476	+	RNA	SNP	A	A	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:67560476A>G	ENST00000528089.1	-	0	1274							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		AACTGCTGGCAGAAAGGGAGC	0.398																																																	0																																												645332					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560476A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-		0.398	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	A			67560476	-1	no_errors	ENST00000528089	ensembl	human	known	70_37	rna	SNP	0.034	G
FBXL13	222235	genome.wustl.edu	37	7	102566785	102566785	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:102566785C>A	ENST00000313221.4	-	10	1240	c.814G>T	c.(814-816)Ggg>Tgg	p.G272W	LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000379306.3_Missense_Mutation_p.G272W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.G272W|FBXL13_ENST00000455112.2_Missense_Mutation_p.G272W|FBXL13_ENST00000393772.2_Missense_Mutation_p.G272W|FBXL13_ENST00000436908.1_Missense_Mutation_p.G272W|FBXL13_ENST00000379308.3_Missense_Mutation_p.G272W|FBXL13_ENST00000456695.1_Missense_Mutation_p.G272W	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	272										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CACAGGACCCCCGGGCAGCCC	0.433																																																	0													67.0	63.0	64.0					7																	102566785		2203	4300	6503	SO:0001583	missense	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.814G>T	7.37:g.102566785C>A	ENSP00000321927:p.Gly272Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.G272W	ENST00000313221.4	37	c.814	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761471	0.49468	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.02631	4.3;4.3;4.22;4.3;4.3;4.3;4.22;4.3	5.42	5.42	0.78866	.	0.350355	0.26156	N	0.026014	T	0.12220	0.0297	M	0.76574	2.34	0.21064	N	0.999799	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.973;0.998;0.999;0.94	T	0.09997	-1.0649	10	0.72032	D	0.01	.	7.5597	0.27845	0.1656:0.7509:0.0:0.0835	.	272;272;272;272	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	W	272	ENSP00000377367:G272W;ENSP00000368610:G272W;ENSP00000368608:G272W;ENSP00000368607:G272W;ENSP00000388608:G272W;ENSP00000321927:G272W;ENSP00000409716:G272W;ENSP00000391550:G272W	ENSP00000321927:G272W	G	-	1	0	FBXL13	102354021	0.015000	0.18098	0.702000	0.30337	0.536000	0.34869	0.627000	0.24506	2.711000	0.92665	0.655000	0.94253	GGG	FBXL13	-	NULL		0.433	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	C	NM_145032		102566785	-1	no_errors	ENST00000313221	ensembl	human	known	70_37	missense	SNP	0.066	A
PRR36	80164	genome.wustl.edu	37	19	7936531	7936531	+	Silent	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:7936531G>T	ENST00000539422.1	-	5	1761	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	CTD-3193O13.9_ENST00000593356.1_Intron|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					GAGAGGGAGAGGCCTGCAGAG	0.627																																																	0																																										SO:0001819	synonymous_variant	80164																														ENST00000539422.1:c.1599C>A	19.37:g.7936531G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.A533	ENST00000539422.1	37	c.1599		19																																																																																			FLJ22184	-	NULL		0.627	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Uniprot_genename	protein_coding		G			7936531	-1	no_errors	ENST00000539422	ensembl	human	known	70_37	silent	SNP	0.005	T
FCGRT	2217	genome.wustl.edu	37	19	50027768	50027768	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:50027768C>A	ENST00000221466.5	+	5	1092	c.606C>A	c.(604-606)ccC>ccA	p.P202P	FCGRT_ENST00000426395.3_Silent_p.P202P|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Silent_p.P110P	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	202	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGCAGAGCCCCCCTCCATGC	0.622																																																	0													56.0	56.0	56.0					19																	50027768		2203	4300	6503	SO:0001819	synonymous_variant	2217			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.606C>A	19.37:g.50027768C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.P202	ENST00000221466.5	37	c.606	CCDS12770.1	19	.	.	.	.	.	.	.	.	.	.	C	9.255	1.041836	0.19748	.	.	ENSG00000104870	ENST00000415900;ENST00000452439	.	.	.	4.37	-8.75	0.00834	.	0.165190	0.29080	N	0.013218	T	0.36690	0.0976	.	.	.	0.20307	N	0.999916	.	.	.	.	.	.	T	0.46176	-0.9210	6	0.87932	D	0	.	9.0864	0.36584	0.239:0.5027:0.2583:0.0	.	.	.	.	H	148;231	.	ENSP00000391574:P148H	P	+	2	0	FCGRT	54719580	0.001000	0.12720	0.723000	0.30687	0.940000	0.58332	-4.257000	0.00265	-1.711000	0.01395	-0.539000	0.04255	CCC	FCGRT	-	pfscan_Ig-like		0.622	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	C			50027768	+1	no_errors	ENST00000221466	ensembl	human	known	70_37	silent	SNP	0.510	A
FSHR	2492	genome.wustl.edu	37	2	49190835	49190835	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:49190835C>T	ENST00000406846.2	-	10	1244	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	FSHR_ENST00000304421.4_Silent_p.L349L|FSHR_ENST00000541117.1_Silent_p.L111L|FSHR_ENST00000346173.3_Silent_p.L313L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	375					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CAGTGATGGCCAGGATGCTGA	0.478									Gonadal Dysgenesis, 46 XX																																								0													186.0	167.0	173.0					2																	49190835		2203	4300	6503	SO:0001819	synonymous_variant	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1125G>A	2.37:g.49190835C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L375	ENST00000406846.2	37	c.1125	CCDS1843.1	2																																																																																			FSHR	-	prints_GPCR_Rhodpsn		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	C			49190835	-1	no_errors	ENST00000406846	ensembl	human	known	70_37	silent	SNP	1.000	T
FUT1	2523	genome.wustl.edu	37	19	49254068	49254068	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:49254068C>G	ENST00000310160.3	-	4	1445	c.471G>C	c.(469-471)ttG>ttC	p.L157F	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	157					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAGGATCTCTCAAGTCCGCGT	0.617																																																	0													119.0	130.0	127.0					19																	49254068		2200	4297	6497	SO:0001583	missense	2523				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.471G>C	19.37:g.49254068C>G	ENSP00000312021:p.Leu157Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O14505|O14506|O14507	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.L157F	ENST00000310160.3	37	c.471	CCDS12733.1	19	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391082	0.25118	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.97378	-4.36	4.54	3.5	0.40072	.	0.450712	0.17127	N	0.185978	D	0.97204	0.9086	M	0.63428	1.95	0.09310	N	1	D	0.67145	0.996	D	0.68483	0.958	D	0.91787	0.5440	10	0.72032	D	0.01	-1.2575	5.6838	0.17790	0.1935:0.7068:0.0:0.0997	.	157	P19526	FUT1_HUMAN	F	157;147	ENSP00000312021:L157F	ENSP00000312021:L157F	L	-	3	2	FUT1	53945880	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	-0.408000	0.07169	1.286000	0.44565	0.563000	0.77884	TTG	FUT1	-	pfam_Glyco_trans_11		0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT1	HGNC	protein_coding	OTTHUMT00000466194.1	C	NM_000148		49254068	-1	no_errors	ENST00000310160	ensembl	human	known	70_37	missense	SNP	0.007	G
GAA	2548	genome.wustl.edu	37	17	78082385	78082385	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:78082385G>A	ENST00000302262.3	+	7	1392	c.1173G>A	c.(1171-1173)atG>atA	p.M391I	GAA_ENST00000390015.3_Missense_Mutation_p.M391I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	391			M -> V (found in a patient with GSD2; unknown pathological significance). {ECO:0000269|PubMed:22644586}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TGGAGAACATGACCAGGGCCC	0.677																																																	0													29.0	28.0	28.0					17																	78082385		2203	4300	6503	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1173G>A	17.37:g.78082385G>A	ENSP00000305692:p.Met391Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.M391I	ENST00000302262.3	37	c.1173	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472452	0.63737	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91351	-2.83;-2.83	4.34	4.34	0.51931	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	M	0.76574	2.34	0.48762	D	0.999704	D	0.60160	0.987	D	0.64410	0.925	D	0.94640	0.7829	10	0.49607	T	0.09	-44.0511	17.1829	0.86859	0.0:0.0:1.0:0.0	.	391	P10253	LYAG_HUMAN	I	391	ENSP00000305692:M391I;ENSP00000374665:M391I	ENSP00000305692:M391I	M	+	3	0	GAA	75696980	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.198000	0.94994	2.100000	0.63781	0.462000	0.41574	ATG	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.677	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	G			78082385	+1	no_errors	ENST00000302262	ensembl	human	known	70_37	missense	SNP	1.000	A
GALNTL6	442117	genome.wustl.edu	37	4	173942763	173942763	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr4:173942763G>T	ENST00000506823.1	+	12	2282	c.1625G>T	c.(1624-1626)tGg>tTg	p.W542L	GALNTL6_ENST00000508122.1_Missense_Mutation_p.W525L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	542	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCAGCTCTGGGGATACCGG	0.458																																																	0													148.0	145.0	146.0					4																	173942763		2203	4300	6503	SO:0001583	missense	442117				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1625G>T	4.37:g.173942763G>T	ENSP00000423313:p.Trp542Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W542L	ENST00000506823.1	37	c.1625	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713423	0.89112	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	D;D	0.94046	-3.34;-3.34	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000001	D	0.97879	0.9303	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98387	1.0561	10	0.87932	D	0	.	20.0817	0.97778	0.0:0.0:1.0:0.0	.	542	Q49A17	GLTL6_HUMAN	L	542;525	ENSP00000423313:W542L;ENSP00000423827:W525L	ENSP00000423313:W542L	W	+	2	0	GALNTL6	174179338	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.437000	0.97535	2.743000	0.94032	0.650000	0.86243	TGG	GALNTL6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.458	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	G	NM_001034845		173942763	+1	no_errors	ENST00000506823	ensembl	human	known	70_37	missense	SNP	1.000	T
GART	2618	genome.wustl.edu	37	21	34882121	34882122	+	Frame_Shift_Ins	INS	-	-	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr21:34882121_34882122insT	ENST00000381831.3	-	18	2683_2684	c.2420_2421insA	c.(2419-2421)aagfs	p.K807fs	GART_ENST00000543717.1_Frame_Shift_Ins_p.K359fs|GART_ENST00000381839.3_Frame_Shift_Ins_p.K807fs|GART_ENST00000381815.4_Frame_Shift_Ins_p.K807fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	807	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.K807fs*7(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCACTCTGGCCTTTTTTTTTTC	0.446																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2421dupA	21.37:g.34882131_34882131dupT	ENSP00000371253:p.Lys807fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Frame_Shift_Ins	INS	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.A808fs	ENST00000381831.3	37	c.2421_2420	CCDS13627.1	21																																																																																			GART	-	superfamily_Formyl_transf_N,tigrfam_PurN_trans		0.446	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	-	NM_000819		34882122	-1	no_errors	ENST00000381815	ensembl	human	known	70_37	frame_shift_ins	INS	0.864:0.844	T
GJD2	57369	genome.wustl.edu	37	15	35044752	35044752	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:35044752C>T	ENST00000290374.4	-	2	1369	c.893G>A	c.(892-894)cGt>cAt	p.R298H	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	298					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTCCTTGTTACGAATCTCATA	0.537																																																	0													87.0	73.0	77.0					15																	35044752		2201	4298	6499	SO:0001583	missense	57369			AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.893G>A	15.37:g.35044752C>T	ENSP00000290374:p.Arg298His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M241|Q9P2R0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.R298H	ENST00000290374.4	37	c.893	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217329	0.79352	.	.	ENSG00000159248	ENST00000290374	D	0.98221	-4.8	5.86	5.86	0.93980	.	1.877190	0.02285	N	0.069770	D	0.98416	0.9473	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	D	0.90709	0.4626	10	0.36615	T	0.2	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	298	Q9UKL4	CXD2_HUMAN	H	298	ENSP00000290374:R298H	ENSP00000290374:R298H	R	-	2	0	GJD2	32832044	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGT	GJD2	-	NULL		0.537	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2	C			35044752	-1	no_errors	ENST00000290374	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA4	2803	genome.wustl.edu	37	3	37365218	37365218	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:37365218C>A	ENST00000361924.2	+	14	2215	c.1841C>A	c.(1840-1842)aCa>aAa	p.T614K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.T636K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	614	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.T614I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAACACAAGACAGAATTGGAA	0.363																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											72.0	73.0	73.0					3																	37365218		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1841C>A	3.37:g.37365218C>A	ENSP00000354486:p.Thr614Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.T614K	ENST00000361924.2	37	c.1841	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145669	0.37923	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.23552	1.92;1.91;1.9	5.07	2.2	0.27929	.	0.502577	0.15254	N	0.272141	T	0.15739	0.0379	L	0.60455	1.87	0.24481	N	0.994345	B;B;B;P	0.36222	0.008;0.004;0.004;0.544	B;B;B;B	0.27380	0.007;0.005;0.003;0.079	T	0.22208	-1.0223	10	0.07030	T	0.85	.	4.2723	0.10792	0.4209:0.389:0.1123:0.0778	.	614;614;636;614	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	614;636;175;485	ENSP00000354486:T614K;ENSP00000349305:T636K;ENSP00000405842:T485K	ENSP00000349305:T636K	T	+	2	0	GOLGA4	37340222	1.000000	0.71417	0.748000	0.31131	0.991000	0.79684	2.732000	0.47352	0.234000	0.21139	-0.182000	0.12963	ACA	GOLGA4	-	NULL		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	C	NM_002078		37365218	+1	no_errors	ENST00000361924	ensembl	human	known	70_37	missense	SNP	0.974	A
GPATCH2	55105	genome.wustl.edu	37	1	217688211	217688211	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:217688211C>A	ENST00000366935.3	-	6	1229	c.1119G>T	c.(1117-1119)gtG>gtT	p.V373V		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	373					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTTGTTACCCACTGGGCCAG	0.348																																																	0													46.0	45.0	45.0					1																	217688211		2203	4300	6503	SO:0001819	synonymous_variant	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1119G>T	1.37:g.217688211C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.V373	ENST00000366935.3	37	c.1119	CCDS1518.1	1																																																																																			GPATCH2	-	NULL		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	C	NM_018040		217688211	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	silent	SNP	0.370	A
GPC3	2719	genome.wustl.edu	37	X	132730622	132730622	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:132730622C>T	ENST00000370818.3	-	7	1864	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	GPC3_ENST00000543339.1_Silent_p.L419L|GPC3_ENST00000394299.2_Silent_p.L496L	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	473					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACATGGTTCTCAGGAGCTGAA	0.428			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													155.0	135.0	142.0					X																	132730622		2203	4300	6503	SO:0001819	synonymous_variant	2719	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1419G>A	X.37:g.132730622C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	pfam_Glypican	p.L496	ENST00000370818.3	37	c.1488	CCDS14638.1	X																																																																																			GPC3	-	pfam_Glypican		0.428	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	C	NM_004484		132730622	-1	no_errors	ENST00000394299	ensembl	human	known	70_37	silent	SNP	1.000	T
GRIK3	2899	genome.wustl.edu	37	1	37271868	37271868	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:37271868C>A	ENST00000373091.3	-	14	2167	c.2151G>T	c.(2149-2151)gcG>gcT	p.A717A	GRIK3_ENST00000373093.4_Silent_p.A717A	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	717					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTTCACCAGCGCCGATGGCT	0.587																																																	0													110.0	95.0	100.0					1																	37271868		2203	4300	6503	SO:0001819	synonymous_variant	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2151G>T	1.37:g.37271868C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A717	ENST00000373091.3	37	c.2151	CCDS416.1	1																																																																																			GRIK3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	C	NM_000831		37271868	-1	no_errors	ENST00000373091	ensembl	human	known	70_37	silent	SNP	0.846	A
HMCN1	83872	genome.wustl.edu	37	1	186113713	186113713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:186113713C>A	ENST00000271588.4	+	91	14373	c.14144C>A	c.(14143-14145)tCa>tAa	p.S4715*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S4715*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4715	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTCTGTGTCATGTGGAGGA	0.522																																																	0													179.0	169.0	172.0					1																	186113713		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14144C>A	1.37:g.186113713C>A	ENSP00000271588:p.Ser4715*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.S4715*	ENST00000271588.4	37	c.14144	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	55	23.891751	0.99957	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	.	.	.	X	4715	.	ENSP00000271588:S4715X	S	+	2	0	HMCN1	184380336	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	7.445000	0.80570	2.765000	0.95021	0.650000	0.86243	TCA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.522	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		186113713	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	nonsense	SNP	1.000	A
IRS4	8471	genome.wustl.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																																	0										32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.K592fs	ENST00000372129.2	37	c.1773_1772	CCDS14544.1	X																																																																																			IRS4	-	NULL		0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	NM_003604		107977803	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	frame_shift_ins	INS	0.031:0.016	C
IYD	389434	genome.wustl.edu	37	6	150716577	150716577	+	Intron	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:150716577G>T	ENST00000344419.3	+	4	827				IYD_ENST00000425615.3_Silent_p.L190L|IYD_ENST00000500320.3_Intron|IYD_ENST00000392255.3_Intron|IYD_ENST00000392256.2_Silent_p.L245L|IYD_ENST00000229447.5_Intron	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TTTCCTTCCTGAATCTGTAAG	0.448											OREG0017729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79.0	70.0	73.0					6																	150716577		692	1591	2283	SO:0001627	intron_variant	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.687+1186G>T	6.37:g.150716577G>T		Somatic	1734	WXS	Illumina HiSeq	Phase_IV	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.L245	ENST00000344419.3	37	c.735	CCDS5227.1	6																																																																																			IYD	-	NULL		0.448	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	G	NM_203395		150716577	+1	no_errors	ENST00000367335	ensembl	human	known	70_37	silent	SNP	0.000	T
JAKMIP2	9832	genome.wustl.edu	37	5	147040796	147040796	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:147040796G>A	ENST00000265272.5	-	3	809	c.342C>T	c.(340-342)ctC>ctT	p.L114L	JAKMIP2_ENST00000507386.1_Silent_p.L114L|JAKMIP2_ENST00000333010.6_Silent_p.L72L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	114						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGACTTGAGCCTCTGGA	0.562																																																	0													160.0	154.0	156.0					5																	147040796		2203	4300	6503	SO:0001819	synonymous_variant	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.342C>T	5.37:g.147040796G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	NULL	p.L114	ENST00000265272.5	37	c.342	CCDS4285.1	5																																																																																			JAKMIP2	-	NULL		0.562	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	G	NM_014790		147040796	-1	no_errors	ENST00000265272	ensembl	human	known	70_37	silent	SNP	1.000	A
KHDC1	80759	genome.wustl.edu	37	6	74019411	74019411	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:74019411G>T	ENST00000370384.3	-	1	527	c.27C>A	c.(25-27)ttC>ttA	p.F9L	KHDC1_ENST00000484801.1_5'UTR	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	9						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						ATAAGACTCGGAACAGCCTCT	0.537											OREG0017531	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	80759				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.27C>A	6.37:g.74019411G>T	ENSP00000359411:p.Phe9Leu	Somatic	1149	WXS	Illumina HiSeq	Phase_IV	Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	NULL	p.F9L	ENST00000370384.3	37	c.27	CCDS59027.1	6	.	.	.	.	.	.	.	.	.	.	G	8.728	0.916014	0.17907	.	.	ENSG00000135314	ENST00000370384	T	0.36878	1.23	1.82	0.933	0.19471	.	.	.	.	.	T	0.05640	0.0148	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.17979	0.02	T	0.37865	-0.9687	8	0.19147	T	0.46	.	4.1596	0.10277	0.2137:0.0:0.7863:0.0	.	9	Q4VXA5	KHDC1_HUMAN	L	9	ENSP00000359411:F9L	ENSP00000359411:F9L	F	-	3	2	KHDC1	74076132	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.731000	0.04909	0.344000	0.23847	0.407000	0.27541	TTC	KHDC1	-	NULL		0.537	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	KHDC1	HGNC	protein_coding	OTTHUMT00000148103.2	G	NM_030568		74019411	-1	no_errors	ENST00000370384	ensembl	human	putative	70_37	missense	SNP	0.000	T
KIAA1191	57179	genome.wustl.edu	37	5	175774645	175774645	+	Silent	SNP	G	G	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:175774645G>C	ENST00000298569.4	-	9	1409	c.876C>G	c.(874-876)ctC>ctG	p.L292L	KIAA1191_ENST00000510164.1_Silent_p.L292L|KIAA1191_ENST00000393725.2_Silent_p.L273L|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	292						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		CACGGGGTTTGAGGTTATGGG	0.542																																																	0													142.0	141.0	141.0					5																	175774645		2203	4300	6503	SO:0001819	synonymous_variant	57179			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.876C>G	5.37:g.175774645G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Silent	SNP	NULL	p.L292	ENST00000298569.4	37	c.876	CCDS4399.1	5																																																																																			KIAA1191	-	NULL		0.542	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	G	NM_020444		175774645	-1	no_errors	ENST00000298569	ensembl	human	known	70_37	silent	SNP	1.000	C
KIAA1462	57608	genome.wustl.edu	37	10	30317689	30317689	+	Missense_Mutation	SNP	G	G	T	rs140538119	byFrequency	TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr10:30317689G>T	ENST00000375377.1	-	3	1489	c.1388C>A	c.(1387-1389)cCg>cAg	p.P463Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	463					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCATGAGCCGGCTCTTGAGC	0.512																																																	0													70.0	73.0	72.0					10																	30317689		1885	4118	6003	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1388C>A	10.37:g.30317689G>T	ENSP00000364526:p.Pro463Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.P463Q	ENST00000375377.1	37	c.1388	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985098	0.53934	.	.	ENSG00000165757	ENST00000375377	T	0.18657	2.2	5.42	4.5	0.54988	.	0.385114	0.26237	N	0.025527	T	0.33352	0.0860	L	0.52364	1.645	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.19031	-1.0318	10	0.59425	D	0.04	-15.9201	4.4339	0.11542	0.0785:0.1362:0.5495:0.2358	.	463	Q9P266	K1462_HUMAN	Q	463	ENSP00000364526:P463Q	ENSP00000364526:P463Q	P	-	2	0	KIAA1462	30357695	0.012000	0.17670	0.184000	0.23157	0.140000	0.21249	0.863000	0.27913	2.545000	0.85829	0.561000	0.74099	CCG	KIAA1462	-	NULL		0.512	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	G	NM_020848		30317689	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.016	T
KIDINS220	57498	genome.wustl.edu	37	2	8926071	8926071	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8926071G>A	ENST00000256707.3	-	17	2210	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	KIDINS220_ENST00000427284.1_Silent_p.L677L|KIDINS220_ENST00000319688.5_Silent_p.L678L|KIDINS220_ENST00000473731.1_Silent_p.L677L|KIDINS220_ENST00000418530.1_Silent_p.L635L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	677	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATATAGCCAGAAGAGTAATT	0.378																																																	0													105.0	102.0	103.0					2																	8926071		1887	4109	5996	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2029C>T	2.37:g.8926071G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L677	ENST00000256707.3	37	c.2029	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase		0.378	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8926071	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	0.831	A
KIDINS220	57498	genome.wustl.edu	37	2	8930014	8930014	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8930014G>A	ENST00000256707.3	-	14	1798	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	KIDINS220_ENST00000427284.1_Silent_p.F539F|KIDINS220_ENST00000319688.5_Silent_p.F540F|KIDINS220_ENST00000473731.1_Silent_p.F539F|KIDINS220_ENST00000418530.1_Silent_p.F497F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	539	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTACTAAAGAATATATATA	0.338																																																	0													47.0	46.0	46.0					2																	8930014		1806	4077	5883	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1617C>T	2.37:g.8930014G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F539	ENST00000256707.3	37	c.1617	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase		0.338	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8930014	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	1.000	A
KIDINS220	57498	genome.wustl.edu	37	2	8930028	8930028	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8930028G>A	ENST00000256707.3	-	14	1784	c.1603C>T	c.(1603-1605)Ctc>Ttc	p.L535F	KIDINS220_ENST00000427284.1_Missense_Mutation_p.L535F|KIDINS220_ENST00000319688.5_Missense_Mutation_p.L536F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.L535F|KIDINS220_ENST00000418530.1_Missense_Mutation_p.L493F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	535	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATATATAAGAGAGCCAAGAAG	0.348																																																	0													64.0	61.0	62.0					2																	8930028		1816	4084	5900	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1603C>T	2.37:g.8930028G>A	ENSP00000256707:p.Leu535Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L535F	ENST00000256707.3	37	c.1603	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024631	0.54683	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.70282	0.67;-0.47;-0.44;-0.33;-0.44;-0.38;-0.37	5.2	0.896	0.19253	KAP P-loop (1);	0.404445	0.27600	N	0.018652	T	0.76644	0.4016	L	0.59436	1.845	0.35252	D	0.778826	B;B;P;P	0.50272	0.007;0.023;0.917;0.933	B;B;P;P	0.59171	0.009;0.072;0.771;0.853	T	0.80621	-0.1301	10	0.41790	T	0.15	.	13.8836	0.63696	0.0:0.5303:0.3662:0.1035	.	536;536;493;535	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	F	282;219;535;535;493;535;536;536	ENSP00000420364:L282F;ENSP00000256707:L535F;ENSP00000411849:L535F;ENSP00000414923:L493F;ENSP00000418974:L535F;ENSP00000419964:L536F;ENSP00000319947:L536F	ENSP00000256707:L535F	L	-	1	0	KIDINS220	8847479	0.997000	0.39634	0.807000	0.32361	0.937000	0.57800	0.743000	0.26231	0.252000	0.21531	0.591000	0.81541	CTC	KIDINS220	-	pfam_KAP_NTPase		0.348	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8930028	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	0.341	A
KIDINS220	57498	genome.wustl.edu	37	2	8930035	8930035	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:8930035G>A	ENST00000256707.3	-	14	1777	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	KIDINS220_ENST00000427284.1_Silent_p.F532F|KIDINS220_ENST00000319688.5_Silent_p.F533F|KIDINS220_ENST00000473731.1_Silent_p.F532F|KIDINS220_ENST00000418530.1_Silent_p.F490F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	532	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAGAGCCAAGAAGCTCAGTG	0.358																																																	0													75.0	71.0	72.0					2																	8930035		1820	4090	5910	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1596C>T	2.37:g.8930035G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F532	ENST00000256707.3	37	c.1596	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase		0.358	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8930035	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	1.000	A
KRT40	125115	genome.wustl.edu	37	17	39135243	39135243	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:39135243C>T	ENST00000398486.2	-	8	1169	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	KRT40_ENST00000377755.4_Missense_Mutation_p.E337K	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	337	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TACTGGGCCTCGGTTTCTGCC	0.562																																																	0													82.0	90.0	87.0					17																	39135243		2194	4285	6479	SO:0001583	missense	125115			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1009G>A	17.37:g.39135243C>T	ENSP00000381500:p.Glu337Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFU5	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E337K	ENST00000398486.2	37	c.1009	CCDS42320.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081519	0.76528	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.91577	-2.87;-2.87	5.56	5.56	0.83823	Filament (1);	0.000000	0.34088	N	0.004268	D	0.94739	0.8302	M	0.69823	2.125	0.42382	D	0.992496	D	0.76494	0.999	D	0.67900	0.954	D	0.94409	0.7630	10	0.52906	T	0.07	.	18.8707	0.92313	0.0:1.0:0.0:0.0	.	337	Q6A162	K1C40_HUMAN	K	337	ENSP00000366984:E337K;ENSP00000381500:E337K	ENSP00000366984:E337K	E	-	1	0	KRT40	36388769	0.986000	0.35501	0.966000	0.40874	0.604000	0.37047	2.334000	0.43920	2.784000	0.95788	0.655000	0.94253	GAG	KRT40	-	pfam_F		0.562	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT40	HGNC	protein_coding	OTTHUMT00000257701.3	C	NM_182497		39135243	-1	no_errors	ENST00000377755	ensembl	human	known	70_37	missense	SNP	0.995	T
LAMA2	3908	genome.wustl.edu	37	6	129786308	129786308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:129786308G>T	ENST00000421865.2	+	51	7223	c.7174G>T	c.(7174-7176)Gag>Tag	p.E2392*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2392	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGAGTGTGGAGCTCACTGA	0.393																																																	0													109.0	101.0	103.0					6																	129786308		2203	4300	6503	SO:0001587	stop_gained	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7174G>T	6.37:g.129786308G>T	ENSP00000400365:p.Glu2392*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E2392*	ENST00000421865.2	37	c.7174	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	49	15.190366	0.99825	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2036	0.93720	0.0:0.0:1.0:0.0	.	.	.	.	X	2392;2391;2392;410	.	.	E	+	1	0	LAMA2	129828001	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	9.230000	0.95299	2.552000	0.86080	0.655000	0.94253	GAG	LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	G			129786308	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LDB3	11155	genome.wustl.edu	37	10	88439877	88439877	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr10:88439877C>A	ENST00000361373.4	+	3	305	c.284C>A	c.(283-285)cCa>cAa	p.P95Q	LDB3_ENST00000458213.2_Missense_Mutation_p.P95Q|LDB3_ENST00000372056.4_Missense_Mutation_p.P95Q|LDB3_ENST00000542786.1_Missense_Mutation_p.P95Q|LDB3_ENST00000352360.5_Missense_Mutation_p.P95Q|LDB3_ENST00000429277.2_Missense_Mutation_p.P95Q|LDB3_ENST00000310944.6_Missense_Mutation_p.P95Q|LDB3_ENST00000372066.3_Missense_Mutation_p.P95Q|LDB3_ENST00000263066.6_Missense_Mutation_p.P95Q	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACAGCACCTCCAGTCCAGACC	0.617																																																	0													109.0	96.0	100.0					10																	88439877		2203	4300	6503	SO:0001583	missense	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.284C>A	10.37:g.88439877C>A	ENSP00000355296:p.Pro95Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P95Q	ENST00000361373.4	37	c.284	CCDS7377.1	10	.	.	.	.	.	.	.	.	.	.	c	13.59	2.281460	0.40394	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T;T;T;T;T	0.54279	0.8;0.72;0.58;1.13;0.72;0.97;1.11;0.58;1.07	5.31	2.16	0.27623	PDZ/DHR/GLGF (1);	0.275476	0.19620	U	0.109935	T	0.49389	0.1554	L	0.59436	1.845	0.19945	N	0.999946	B;B;B;B;B;P;P	0.39940	0.01;0.162;0.042;0.031;0.001;0.696;0.552	B;B;B;B;B;B;B	0.43990	0.004;0.098;0.052;0.006;0.005;0.438;0.142	T	0.37291	-0.9712	10	0.44086	T	0.13	.	7.007	0.24842	0.3494:0.3015:0.349:0.0	.	95;95;95;95;95;95;95	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	Q	95	ENSP00000401437:P95Q;ENSP00000409148:P95Q;ENSP00000263067:P95Q;ENSP00000361136:P95Q;ENSP00000263066:P95Q;ENSP00000361126:P95Q;ENSP00000311913:P95Q;ENSP00000355296:P95Q;ENSP00000438866:P95Q	ENSP00000263066:P95Q	P	+	2	0	LDB3	88429857	0.524000	0.26282	0.065000	0.19835	0.915000	0.54546	1.784000	0.38674	0.551000	0.29008	0.651000	0.88453	CCA	LDB3	-	superfamily_PDZ		0.617	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	C			88439877	+1	no_errors	ENST00000429277	ensembl	human	known	70_37	missense	SNP	0.394	A
LIG4	3981	genome.wustl.edu	37	13	108861165	108861165	+	Missense_Mutation	SNP	C	C	T	rs534543979		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:108861165C>T	ENST00000356922.4	-	2	2724	c.2452G>A	c.(2452-2454)Gtt>Att	p.V818I	LIG4_ENST00000442234.1_Missense_Mutation_p.V818I|LIG4_ENST00000405925.1_Missense_Mutation_p.V818I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	818	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCCAAATAAACGGTGTGGCGT	0.433								Non-homologous end-joining					C|||	1	0.000199681	0.0	0.0	5008	,	,		17778	0.0		0.0	False		,,,				2504	0.001																0													90.0	86.0	87.0					13																	108861165		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2452G>A	13.37:g.108861165C>T	ENSP00000349393:p.Val818Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.V818I	ENST00000356922.4	37	c.2452	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	C	4.650	0.120876	0.08881	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62788	0.0;0.0;0.0	5.59	-11.2	0.00127	BRCT (2);	0.751570	0.12870	N	0.432372	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.28396	-1.0045	10	0.15952	T	0.53	.	16.7725	0.85542	0.0:0.687:0.0988:0.2143	.	818	P49917	DNLI4_HUMAN	I	818	ENSP00000385955:V818I;ENSP00000402030:V818I;ENSP00000349393:V818I	ENSP00000349393:V818I	V	-	1	0	LIG4	107659166	0.000000	0.05858	0.000000	0.03702	0.657000	0.38888	-0.899000	0.04101	-2.507000	0.00506	-0.768000	0.03414	GTT	LIG4	-	smart_BRCT_dom,pfscan_BRCT_dom		0.433	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	C	NM_002312		108861165	-1	no_errors	ENST00000356922	ensembl	human	known	70_37	missense	SNP	0.000	T
LILRA3	11026	genome.wustl.edu	37	19	54804218	54804218	+	5'UTR	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:54804218G>A	ENST00000251390.3	-	0	47				LILRA3_ENST00000391744.3_5'Flank|LILRA3_ENST00000391745.1_Nonsense_Mutation_p.R3*	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3						defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGAGCCCTCGGTGCTGGCAG	0.577																																																	0													89.0	69.0	76.0					19																	54804218		2194	4165	6359	SO:0001623	5_prime_UTR_variant	11026			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.-45C>T	19.37:g.54804218G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.R3*	ENST00000251390.3	37	c.7	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928441	0.92389	.	.	ENSG00000170866	ENST00000391745	.	.	.	1.96	-0.946	0.10385	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4036	0.11399	0.5432:0.0:0.4567:0.0	.	.	.	.	X	3	.	ENSP00000375625:R3X	R	-	1	2	LILRA3	59496030	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.340000	0.02650	-0.148000	0.11234	0.485000	0.47835	CGA	LILRA3	-	NULL		0.577	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	G			54804218	-1	no_errors	ENST00000391745	ensembl	human	putative	70_37	nonsense	SNP	0.000	A
OVOS2	144203	genome.wustl.edu	37	12	31267847	31267847	+	RNA	SNP	C	C	T	rs571934609		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:31267847C>T	ENST00000542490.1	-	0	680																		p.R1341H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						GGATTTATTGCGAATTCCAGT	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		18908	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											11.0	10.0	11.0					12																	31267847		1708	3913	5621			100509445																															12.37:g.31267847C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000542490.1	37	NULL		12																																																																																			RP11-551L14.1	-	-		0.318	RP11-551L14.1-003	KNOWN	basic	processed_transcript	LOC100509445	Clone_based_vega_gene	pseudogene	OTTHUMT00000400342.1	C			31267847	-1	no_errors	ENST00000391394	ensembl	human	known	70_37	rna	SNP	0.831	T
LRRC74B	400891	genome.wustl.edu	37	22	21403289	21403289	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr22:21403289C>T	ENST00000342608.4	+	4	492	c.465C>T	c.(463-465)ctC>ctT	p.L155L	AC002472.13_ENST00000497328.1_3'UTR|AC002472.13_ENST00000543388.1_3'UTR																lung(2)	2						CCCAGGCCCTCTGTGCCGCCC	0.652																																																	0																																										SO:0001819	synonymous_variant	400891																														ENST00000342608.4:c.465C>T	22.37:g.21403289C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L155	ENST00000342608.4	37	c.465		22																																																																																			AC002472.13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.652	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	LOC400891	Clone_based_vega_gene	protein_coding		C			21403289	+1	no_errors	ENST00000342608	ensembl	human	known	70_37	silent	SNP	0.506	T
LRP5L	91355	genome.wustl.edu	37	22	25750617	25750617	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr22:25750617C>T	ENST00000402785.2	-	3	697	c.601G>A	c.(601-603)Gac>Aac	p.D201N	LRP5L_ENST00000444995.3_Missense_Mutation_p.D201N|LRP5L_ENST00000402859.2_Missense_Mutation_p.D201N			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	201					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GGCAGCTGGTCAATGATGACG	0.617																																																	0													183.0	145.0	158.0					22																	25750617		2200	4300	6500	SO:0001583	missense	91355			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.601G>A	22.37:g.25750617C>T	ENSP00000384562:p.Asp201Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.D201N	ENST00000402785.2	37	c.601	CCDS33626.1	22	.	.	.	.	.	.	.	.	.	.	c	17.58	3.424508	0.62733	.	.	ENSG00000100068	ENST00000402859;ENST00000444995;ENST00000402785	D;D;D	0.91068	-2.78;-2.78;-2.78	2.44	2.44	0.29823	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.93400	0.7895	M	0.86651	2.83	0.50813	D	0.999895	P;B	0.52061	0.95;0.175	P;B	0.53549	0.729;0.055	D	0.93758	0.7064	9	0.66056	D	0.02	.	11.0249	0.47739	0.0:1.0:0.0:0.0	.	201;201	A4QPB2-2;A4QPB2	.;LRP5L_HUMAN	N	201	ENSP00000384291:D201N;ENSP00000407283:D201N;ENSP00000384562:D201N	ENSP00000384562:D201N	D	-	1	0	LRP5L	24080617	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	6.929000	0.75852	1.671000	0.50874	0.194000	0.17425	GAC	LRP5L	-	NULL		0.617	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	C	NM_182492		25750617	-1	no_errors	ENST00000402785	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC37A3	374819	genome.wustl.edu	37	17	62892159	62892159	+	Missense_Mutation	SNP	G	G	T	rs17857225		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:62892159G>T	ENST00000584306.1	-	3	1747	c.1217C>A	c.(1216-1218)gCt>gAt	p.A406D	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A406D|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	406						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTGGGTGAAGCTAAATGATG	0.537																																																	0													1.0	1.0	1.0					17																	62892159		292	887	1179	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1217C>A	17.37:g.62892159G>T	ENSP00000464535:p.Ala406Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A406D	ENST00000584306.1	37	c.1217	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	0	-2.581395	0.00129	.	.	ENSG00000176809	ENST00000319651	T	0.59772	0.24	2.63	-5.25	0.02781	.	.	.	.	.	T	0.16342	0.0393	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11108	-1.0601	9	0.11794	T	0.64	.	2.8545	0.05568	0.2063:0.2804:0.3945:0.1188	.	406	O60309	L37A3_HUMAN	D	406	ENSP00000325713:A406D	ENSP00000325713:A406D	A	-	2	0	LRRC37A3	60322621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.921000	0.01569	-5.806000	0.00009	-2.171000	0.00323	GCT	LRRC37A3	-	NULL		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62892159	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	T
MAN2A2	4122	genome.wustl.edu	37	15	91448606	91448606	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:91448606C>A	ENST00000559717.1	+	3	717	c.258C>A	c.(256-258)ccC>ccA	p.P86P	MAN2A2_ENST00000360468.3_Silent_p.P86P|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	86					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGGCCCGCCCGCCATGCTGC	0.607																																																	0													49.0	55.0	53.0					15																	91448606		2198	4298	6496	SO:0001819	synonymous_variant	4122			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.258C>A	15.37:g.91448606C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH12|A8K1E8|Q13754	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P86	ENST00000559717.1	37	c.258	CCDS32332.1	15																																																																																			MAN2A2	-	NULL		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	C	NM_006122		91448606	+1	no_errors	ENST00000360468	ensembl	human	known	70_37	silent	SNP	0.095	A
MAP4	4134	genome.wustl.edu	37	3	47910709	47910709	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:47910709C>A	ENST00000360240.6	-	14	3486	c.2968G>T	c.(2968-2970)Ggg>Tgg	p.G990W	MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000395734.3_Missense_Mutation_p.G990W|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.G2135W|MAP4_ENST00000264724.11_Missense_Mutation_p.G725W	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	990					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCACTTTCCCCGCAGGTTGT	0.468																																																	0													128.0	130.0	130.0					3																	47910709		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2968G>T	3.37:g.47910709C>A	ENSP00000353375:p.Gly990Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.G990W	ENST00000360240.6	37	c.2968	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459904	0.84317	.	.	ENSG00000047849	ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000383736	T;T;T;T	0.36699	1.24;2.86;2.87;2.86	5.82	5.82	0.92795	.	.	.	.	.	T	0.52451	0.1735	L	0.32530	0.975	0.41910	D	0.990461	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.53194	-0.8473	9	0.87932	D	0	-14.6032	19.0968	0.93255	0.0:1.0:0.0:0.0	.	710;990;990	P27816-4;P27816-6;P27816	.;.;MAP4_HUMAN	W	725;990;2135;990;710	ENSP00000264724:G725W;ENSP00000379083:G990W;ENSP00000407602:G2135W;ENSP00000353375:G990W	ENSP00000264724:G725W	G	-	1	0	MAP4	47885713	1.000000	0.71417	0.995000	0.50966	0.853000	0.48598	5.072000	0.64389	2.756000	0.94617	0.563000	0.77884	GGG	MAP4	-	NULL		0.468	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	C	NM_002375		47910709	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	missense	SNP	1.000	A
MDC1	9656	genome.wustl.edu	37	6	30680439	30680439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:30680439C>T	ENST00000376406.3	-	5	1927	c.1280G>A	c.(1279-1281)tGg>tAg	p.W427*	MDC1_ENST00000376405.2_Nonsense_Mutation_p.W427*|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000494654.1_5'Flank	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	427	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ATCTCTGTTCCATATAGCAGG	0.522								Other conserved DNA damage response genes																																									0													86.0	81.0	83.0					6																	30680439		1510	2708	4218	SO:0001587	stop_gained	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1280G>A	6.37:g.30680439C>T	ENSP00000365588:p.Trp427*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.W427*	ENST00000376406.3	37	c.1280	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.355796	0.98231	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	.	.	.	4.93	4.06	0.47325	.	0.234553	0.22416	N	0.060360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	0.1081	9.3305	0.38018	0.0:0.8996:0.0:0.1004	.	.	.	.	X	427;427;427;299	.	ENSP00000365587:W427X	W	-	2	0	MDC1	30788418	0.001000	0.12720	0.595000	0.28798	0.362000	0.29581	0.375000	0.20518	1.210000	0.43336	0.561000	0.74099	TGG	MDC1	-	NULL		0.522	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	C	NM_014641		30680439	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	nonsense	SNP	0.772	T
METTL8	79828	genome.wustl.edu	37	2	172182597	172182597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:172182597G>A	ENST00000375258.4	-	8	1137	c.922C>T	c.(922-924)Cga>Tga	p.R308*	METTL8_ENST00000463392.1_5'UTR	NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CCATAGTCTCGAAATAACAGC	0.348																																																	0													49.0	41.0	43.0					2																	172182597		692	1591	2283	SO:0001587	stop_gained	79828			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.922C>T	2.37:g.172182597G>A	ENSP00000364407:p.Arg308*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TM9|Q53TQ0	Nonsense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase_METTL2_prd	p.R308*	ENST00000375258.4	37	c.922		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.953211|5.953211	0.97139|0.97139	.|.	.|.	ENSG00000123600|ENSG00000123600	ENST00000375258|ENST00000438609	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79730	.|0.4496	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77550	.|-0.2546	.|3	0.02654|.	T|.	1|.	-6.3931|-6.3931	19.8925|19.8925	0.96935|0.96935	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	308|143	.|.	ENSP00000364407:R308X|.	R|S	-|-	1|2	2|0	METTL8|METTL8	171890843|171890843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.608000|7.608000	0.82898|0.82898	2.787000|2.787000	0.95880|0.95880	0.650000|0.650000	0.86243|0.86243	CGA|TCG	METTL8	-	pirsf_MeTrfase_METTL2_prd		0.348	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	METTL8	HGNC	protein_coding	OTTHUMT00000255345.3	G	NM_024770		172182597	-1	no_errors	ENST00000375258	ensembl	human	putative	70_37	nonsense	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18387564	18387564	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr22:18387564G>A	ENST00000441493.2	-	3	658	c.306C>T	c.(304-306)gcC>gcT	p.A102A	MICAL3_ENST00000444520.1_Silent_p.A102A|MICAL3_ENST00000414725.2_Silent_p.A102A|MICAL3_ENST00000400561.2_Silent_p.A102A|MICAL3_ENST00000207726.7_Silent_p.A102A|MICAL3_ENST00000383094.3_Silent_p.A102A|MICAL3_ENST00000585038.1_Silent_p.A102A|MICAL3_ENST00000429452.1_Silent_p.A102A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	102	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ATAAGTCGATGGCTGTACGGA	0.512																																																	0													78.0	73.0	74.0					22																	18387564		1568	3582	5150	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.306C>T	22.37:g.18387564G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A102	ENST00000441493.2	37	c.306	CCDS46659.1	22																																																																																			MICAL3	-	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like		0.512	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	G			18387564	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	silent	SNP	1.000	A
MRAP	56246	genome.wustl.edu	37	21	33684046	33684046	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr21:33684046C>A	ENST00000399784.2	+	5	445	c.258C>A	c.(256-258)ctC>ctA	p.L86L	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Intron|AP000266.7_ENST00000450936.1_RNA|MRAP_ENST00000303645.5_Silent_p.L86L|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000399786.3_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	86					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						GCCTCAACCTCCACCTCTGCA	0.612																																																	0													109.0	85.0	93.0					21																	33684046		2203	4300	6503	SO:0001819	synonymous_variant	56246			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.258C>A	21.37:g.33684046C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	NULL	p.L86	ENST00000399784.2	37	c.258	CCDS13613.1	21																																																																																			MRAP	-	NULL		0.612	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000193092.1	C	NM_178817		33684046	+1	no_errors	ENST00000303645	ensembl	human	known	70_37	silent	SNP	0.067	A
MRPL53	116540	genome.wustl.edu	37	2	74699552	74699553	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:74699552_74699553delAT	ENST00000258105.7	-	2	798_799	c.137_138delAT	c.(136-138)aatfs	p.N46fs	MRPL53_ENST00000409710.1_Intron	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	46						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						AGCAGTTGAGATTAGTGGAGCG	0.609																																																	0																																										SO:0001589	frameshift_variant	116540			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.137_138delAT	2.37:g.74699552_74699553delAT	ENSP00000258105:p.Asn46fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Del	DEL	pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold	p.N46fs	ENST00000258105.7	37	c.138_137	CCDS1944.1	2																																																																																			MRPL53	-	pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold		0.609	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL53	HGNC	protein_coding	OTTHUMT00000252225.2	AT	NM_053050		74699553	-1	no_errors	ENST00000258105	ensembl	human	known	70_37	frame_shift_del	DEL	0.999:1.000	-
MYO7B	4648	genome.wustl.edu	37	2	128350378	128350378	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:128350378C>A	ENST00000409816.2	+	16	2034	c.2002C>A	c.(2002-2004)Cgg>Agg	p.R668R	MYO7B_ENST00000389524.4_Silent_p.R668R|MYO7B_ENST00000428314.1_Silent_p.R668R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	668	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTTCGACCGGGAGCTGTG	0.682																																																	0													16.0	23.0	21.0					2																	128350378		2019	4165	6184	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2002C>A	2.37:g.128350378C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.R668	ENST00000409816.2	37	c.2002	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.682	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128350378	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78415569	78415569	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:78415569C>A	ENST00000397909.2	+	9	2123	c.1950C>A	c.(1948-1950)gaC>gaA	p.D650E	NAV3_ENST00000536525.2_Missense_Mutation_p.D650E|NAV3_ENST00000228327.6_Missense_Mutation_p.D650E|NAV3_ENST00000266692.7_Missense_Mutation_p.D650E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	650						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCGGCTGACTCCTGTACCA	0.418										HNSCC(70;0.22)																																							0													112.0	113.0	113.0					12																	78415569		2027	4204	6231	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1950C>A	12.37:g.78415569C>A	ENSP00000381007:p.Asp650Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.D650E	ENST00000397909.2	37	c.1950		12	.	.	.	.	.	.	.	.	.	.	C	4.975	0.181121	0.09443	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.46	1.06	0.20224	.	0.174935	0.26345	U	0.024914	T	0.06096	0.0158	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.36939	-0.9727	10	0.02654	T	1	-8.3929	7.4946	0.27481	0.118:0.5884:0.0:0.2936	.	650;650	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	650	ENSP00000446628:D650E;ENSP00000446132:D650E;ENSP00000381007:D650E;ENSP00000228327:D650E;ENSP00000266692:D650E	ENSP00000228327:D650E	D	+	3	2	NAV3	76939700	0.964000	0.33143	1.000000	0.80357	0.989000	0.77384	0.083000	0.14871	0.283000	0.22279	0.655000	0.94253	GAC	NAV3	-	NULL		0.418	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78415569	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152375507	152375507	+	Missense_Mutation	SNP	A	A	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:152375507A>T	ENST00000172853.10	-	127	17711	c.17564T>A	c.(17563-17565)gTc>gAc	p.V5855D	NEB_ENST00000604864.1_Missense_Mutation_p.V7556D|NEB_ENST00000409198.1_Missense_Mutation_p.V5855D|NEB_ENST00000427231.2_Missense_Mutation_p.V7556D|NEB_ENST00000603639.1_Missense_Mutation_p.V7556D|NEB_ENST00000397345.3_Missense_Mutation_p.V7556D			P20929	NEBU_HUMAN	nebulin	5855					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTATTCAGGACATGATTCAT	0.428																																																	0													145.0	136.0	139.0					2																	152375507		1912	4118	6030	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17564T>A	2.37:g.152375507A>T	ENSP00000172853:p.Val5855Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.V7556D	ENST00000172853.10	37	c.22667		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.049674|4.049674	0.75846|0.75846	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.52526	.|1.44;1.44;1.44;0.66;1.44	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.350657	.|0.32852	.|N	.|0.005567	T|T	0.61862|0.61862	0.2381|0.2381	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.803;0.98;0.999	.|P;P;D	.|0.85130	.|0.492;0.897;0.997	T|T	0.62937|0.62937	-0.6748|-0.6748	5|10	.|0.59425	.|D	.|0.04	.|.	16.5582|16.5582	0.84512|0.84512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|5855;7556;2286	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	T|D	179|5855;7556;7556;1904;2286;5855	.|ENSP00000386259:V5855D;ENSP00000380505:V7556D;ENSP00000416578:V7556D;ENSP00000410961:V2286D;ENSP00000172853:V5855D	.|ENSP00000172853:V5855D	S|V	-|-	1|2	0|0	NEB|NEB	152083753|152083753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.010000|3.010000	0.49559|0.49559	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TCC|GTC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		A	NM_004543		152375507	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T
NHS	4810	genome.wustl.edu	37	X	17744047	17744047	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:17744047C>G	ENST00000380060.3	+	6	2096	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	NHS_ENST00000398097.3_Missense_Mutation_p.I430M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	607					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGAGCCCCATCCACTGCATCT	0.567																																																	0													83.0	68.0	73.0					X																	17744047		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1758C>G	X.37:g.17744047C>G	ENSP00000369400:p.Ile586Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.I586M	ENST00000380060.3	37	c.1758	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641976	0.29157	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.53640	0.61;0.62	5.86	3.77	0.43336	.	0.255283	0.45606	D	0.000344	T	0.53965	0.1829	M	0.76838	2.35	0.40147	D	0.976902	P;P;P;P	0.36909	0.573;0.573;0.573;0.573	P;P;P;P	0.47528	0.549;0.549;0.549;0.468	T	0.52953	-0.8506	10	0.30854	T	0.27	-11.9559	6.1039	0.20063	0.0:0.5798:0.0:0.4202	.	607;428;430;586	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	M	586;430;428	ENSP00000369400:I586M;ENSP00000381170:I430M	ENSP00000369397:I428M	I	+	3	3	NHS	17653968	0.985000	0.35326	1.000000	0.80357	0.982000	0.71751	0.176000	0.16782	1.224000	0.43551	0.600000	0.82982	ATC	NHS	-	NULL		0.567	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744047	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	0.999	G
NLGN4X	57502	genome.wustl.edu	37	X	5827180	5827180	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:5827180G>A	ENST00000381095.3	-	4	1353	c.726C>T	c.(724-726)ggC>ggT	p.G242G	NLGN4X_ENST00000538097.1_Silent_p.G242G|NLGN4X_ENST00000275857.6_Silent_p.G242G|NLGN4X_ENST00000381092.1_Silent_p.G242G|NLGN4X_ENST00000381093.2_Silent_p.G262G	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	242					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGTCCCCGCCAAAGGCTC	0.562																																																	0													84.0	74.0	78.0					X																	5827180		2203	4300	6503	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.726C>T	X.37:g.5827180G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G262	ENST00000381095.3	37	c.786	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3		0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5827180	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.946	A
NHS	4810	genome.wustl.edu	37	X	17744197	17744197	+	Silent	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:17744197C>G	ENST00000380060.3	+	6	2246	c.1908C>G	c.(1906-1908)ctC>ctG	p.L636L	NHS_ENST00000398097.3_Silent_p.L480L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	657					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTCCTCCACTCACTGGCTCTT	0.542																																																	0													127.0	111.0	116.0					X																	17744197		2203	4300	6503	SO:0001819	synonymous_variant	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1908C>G	X.37:g.17744197C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.L636	ENST00000380060.3	37	c.1908	CCDS14181.1	X																																																																																			NHS	-	NULL		0.542	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744197	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	silent	SNP	0.984	G
NOD2	64127	genome.wustl.edu	37	16	50750827	50750827	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:50750827G>A	ENST00000300589.2	+	6	2677	c.2572G>A	c.(2572-2574)Ggc>Agc	p.G858S		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	858					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATTGACTGACGGCTGTGCACA	0.483																																																	0													194.0	184.0	187.0					16																	50750827		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2572G>A	16.37:g.50750827G>A	ENSP00000300589:p.Gly858Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.G858S	ENST00000300589.2	37	c.2572	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	G	7.350	0.622698	0.14193	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.51325	0.71	5.76	5.76	0.90799	.	0.311546	0.29348	N	0.012405	T	0.27419	0.0673	N	0.21373	0.66	0.28072	N	0.932554	P	0.50443	0.935	B	0.36335	0.222	T	0.37865	-0.9687	10	0.02654	T	1	.	15.4789	0.75508	0.0:0.0:1.0:0.0	.	858	Q9HC29	NOD2_HUMAN	S	831;858	ENSP00000300589:G858S	ENSP00000300589:G858S	G	+	1	0	NOD2	49308328	0.996000	0.38824	0.949000	0.38748	0.225000	0.24961	3.582000	0.53921	2.719000	0.93026	0.555000	0.69702	GGC	NOD2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.483	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	G	NM_022162		50750827	+1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.994	A
NOTCH1	4851	genome.wustl.edu	37	9	139412245	139412245	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:139412245C>T	ENST00000277541.6	-	8	1475	c.1400G>A	c.(1399-1401)tGc>tAc	p.C467Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	467	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGTCCAGGCAGGTGGCGTC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													57.0	64.0	62.0					9																	139412245		2146	4233	6379	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1400G>A	9.37:g.139412245C>T	ENSP00000277541:p.Cys467Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C467Y	ENST00000277541.6	37	c.1400	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288600	0.80914	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99935	4.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	467	P46531	NOTC1_HUMAN	Y	467	ENSP00000277541:C467Y	ENSP00000277541:C467Y	C	-	2	0	NOTCH1	138532066	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	TGC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139412245	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	1.000	T
NPRL2	10641	genome.wustl.edu	37	3	50385987	50385987	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:50385987C>A	ENST00000232501.3	-	7	1129	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C	NPRL2_ENST00000493465.1_5'UTR|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|ZMYND10_ENST00000360165.3_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	231					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						GTCACAACGCCGTAGTACCTG	0.577																																																	0													146.0	128.0	134.0					3																	50385987		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.691G>T	3.37:g.50385987C>A	ENSP00000232501:p.Gly231Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	pfam_NPR2	p.G231C	ENST00000232501.3	37	c.691	CCDS2826.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213417	0.79352	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.65	5.65	0.86999	.	0.045098	0.85682	D	0.000000	D	0.84701	0.5530	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86497	0.1801	9	0.87932	D	0	-18.4762	19.7135	0.96105	0.0:1.0:0.0:0.0	.	231	Q8WTW4	NPRL2_HUMAN	C	231	.	ENSP00000232501:G231C	G	-	1	0	NPRL2	50360991	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.261000	0.78400	2.648000	0.89879	0.655000	0.94253	GGC	NPRL2	-	pfam_NPR2		0.577	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPRL2	HGNC	protein_coding	OTTHUMT00000346299.1	C	NM_006545		50385987	-1	no_errors	ENST00000232501	ensembl	human	known	70_37	missense	SNP	1.000	A
NSMAF	8439	genome.wustl.edu	37	8	59511903	59511903	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:59511903C>A	ENST00000038176.3	-	19	1685	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.Q522H	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	491	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTTTGCTCTTCTGGAGAAAGT	0.373																																																	0													132.0	132.0	132.0					8																	59511903		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1473G>T	8.37:g.59511903C>A	ENSP00000038176:p.Gln491His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q522H	ENST00000038176.3	37	c.1566	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048501	0.75846	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.80393	-1.37;-1.37	6.17	6.17	0.99709	BEACH domain (4);	0.222975	0.47455	D	0.000230	D	0.83087	0.5178	L	0.35793	1.09	0.44995	D	0.998013	P;P	0.47604	0.898;0.703	P;P	0.53861	0.736;0.663	T	0.79137	-0.1927	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	522;491	Q92636-2;Q92636	.;FAN_HUMAN	H	491;522	ENSP00000038176:Q491H;ENSP00000411012:Q522H	.	Q	-	3	2	NSMAF	59674457	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.215000	0.51169	2.941000	0.99782	0.655000	0.94253	CAG	NSMAF	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	C	NM_003580		59511903	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	1.000	A
NT5DC1	221294	genome.wustl.edu	37	6	116558139	116558139	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:116558139G>T	ENST00000319550.4	+	9	895	c.813G>T	c.(811-813)gaG>gaT	p.E271D		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	271							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGAATGATGAGGAGCAGGAGG	0.463																																					Colon(128;1440 1664 38087 41475 42869)												0													56.0	52.0	53.0					6																	116558139		2203	4300	6503	SO:0001583	missense	221294			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.813G>T	6.37:g.116558139G>T	ENSP00000326858:p.Glu271Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	p.E271D	ENST00000319550.4	37	c.813	CCDS5104.1	6	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856353	0.51376	.	.	ENSG00000178425	ENST00000319550	T	0.22336	1.96	4.38	1.47	0.22746	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	M	0.66939	2.045	0.44852	D	0.997866	P;D;D	0.67145	0.947;0.992;0.996	P;D;D	0.67231	0.856;0.949;0.95	T	0.17258	-1.0375	10	0.12103	T	0.63	-0.6833	8.994	0.36041	0.4063:0.0:0.5937:0.0	.	221;271;271	B3KR35;A8K2Z3;Q5TFE4	.;.;NT5D1_HUMAN	D	271	ENSP00000326858:E271D	ENSP00000326858:E271D	E	+	3	2	NT5DC1	116664832	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.221000	0.32503	0.393000	0.25203	0.650000	0.86243	GAG	NT5DC1	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom		0.463	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC1	HGNC	protein_coding	OTTHUMT00000041931.3	G	NM_152729		116558139	+1	no_errors	ENST00000319550	ensembl	human	known	70_37	missense	SNP	0.999	T
NUGGC	389643	genome.wustl.edu	37	8	27887920	27887920	+	Missense_Mutation	SNP	C	C	A	rs371363580		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:27887920C>A	ENST00000413272.2	-	16	2066	c.1924G>T	c.(1924-1926)Ggg>Tgg	p.G642W	NUGGC_ENST00000341513.6_Missense_Mutation_p.G642W	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	642					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCCAGGCCCCCGAGGATGGCA	0.562																																																	0													32.0	35.0	34.0					8																	27887920		1969	4143	6112	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1924G>T	8.37:g.27887920C>A	ENSP00000408697:p.Gly642Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.G642W	ENST00000413272.2	37	c.1924	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367539	0.42003	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15372	2.43;2.43	5.0	5.0	0.66597	.	0.431444	0.23874	N	0.043705	T	0.21103	0.0508	L	0.29908	0.895	0.36537	D	0.871055	D	0.57257	0.979	P	0.51229	0.663	T	0.07616	-1.0763	10	0.72032	D	0.01	-9.3661	14.2283	0.65875	0.0:1.0:0.0:0.0	.	642	Q68CJ6	SLIP_HUMAN	W	642	ENSP00000408697:G642W;ENSP00000345031:G642W	ENSP00000345031:G642W	G	-	1	0	C8orf80	27943839	0.966000	0.33281	1.000000	0.80357	0.092000	0.18411	2.574000	0.46016	2.479000	0.83701	0.558000	0.71614	GGG	NUGGC	-	NULL		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27887920	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	1.000	A
NXN	64359	genome.wustl.edu	37	17	729261	729261	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:729261C>T	ENST00000336868.3	-	2	509	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.A32T|NXN_ENST00000577098.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	140					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CCAGTGGTGGCGTCGAGGAAT	0.468																																																	0													156.0	134.0	142.0					17																	729261		2203	4300	6503	SO:0001583	missense	64359				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.418G>A	17.37:g.729261C>T	ENSP00000337443:p.Ala140Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.A140T	ENST00000336868.3	37	c.418	CCDS10998.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115807	0.77323	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.81499	-1.5	6.17	6.17	0.99709	Thioredoxin-like fold (2);	0.044716	0.85682	D	0.000000	T	0.77184	0.4093	L	0.55990	1.75	0.80722	D	1	B;P;B	0.35011	0.026;0.48;0.393	B;B;B	0.24006	0.005;0.043;0.05	T	0.77186	-0.2680	10	0.62326	D	0.03	-17.5225	19.8676	0.96824	0.0:1.0:0.0:0.0	.	32;27;140	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	T	140;32	ENSP00000337443:A140T	ENSP00000337443:A140T	A	-	1	0	NXN	676011	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.850000	0.62889	2.941000	0.99782	0.655000	0.94253	GCC	NXN	-	superfamily_Thioredoxin-like_fold		0.468	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	C			729261	-1	no_errors	ENST00000336868	ensembl	human	known	70_37	missense	SNP	1.000	T
OAS3	4940	genome.wustl.edu	37	12	113401136	113401136	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:113401136C>T	ENST00000228928.7	+	10	2282	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	701	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TCCTGGACCCCGCTGATCCCA	0.652																																																	0													12.0	13.0	13.0					12																	113401136		1939	4119	6058	SO:0001819	synonymous_variant	4940			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2103C>T	12.37:g.113401136C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2HJ14|Q9H3P5	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.P701	ENST00000228928.7	37	c.2103	CCDS44981.1	12																																																																																			OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.652	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	C			113401136	+1	no_errors	ENST00000228928	ensembl	human	known	70_37	silent	SNP	0.640	T
OR4D10	390197	genome.wustl.edu	37	11	59245699	59245699	+	Missense_Mutation	SNP	C	C	A	rs571309353		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:59245699C>A	ENST00000530162.1	+	1	854	c.797C>A	c.(796-798)cCc>cAc	p.P266H		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTGCCCTCCCCATGGATAAG	0.552																																																	0													190.0	169.0	176.0					11																	59245699		2201	4295	6496	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.797C>A	11.37:g.59245699C>A	ENSP00000436424:p.Pro266His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P266H	ENST00000530162.1	37	c.797	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188672	0.38609	.	.	ENSG00000254466	ENST00000530162	T	0.00069	8.77	4.7	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	L	0.55990	1.75	0.23776	N	0.996879	D	0.89917	1.0	D	0.85130	0.997	T	0.53422	-0.8441	9	0.87932	D	0	.	7.1973	0.25860	0.1679:0.7429:0.0:0.0892	.	266	Q8NGI6	OR4DA_HUMAN	H	266	ENSP00000436424:P266H	ENSP00000436424:P266H	P	+	2	0	OR4D10	59002275	0.000000	0.05858	0.966000	0.40874	0.482000	0.33219	0.038000	0.13862	1.090000	0.41315	0.650000	0.86243	CCC	OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	C	NM_001004705		59245699	+1	no_errors	ENST00000530162	ensembl	human	known	70_37	missense	SNP	0.715	A
OR9K2	441639	genome.wustl.edu	37	12	55523629	55523629	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:55523629G>T	ENST00000305377.5	+	1	165	c.77G>T	c.(76-78)aGg>aTg	p.R26M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGGGTGACAGGGGAACAAGC	0.423																																																	0													163.0	157.0	159.0					12																	55523629		2203	4300	6503	SO:0001583	missense	441639			BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.77G>T	12.37:g.55523629G>T	ENSP00000307598:p.Arg26Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH19|Q6IFD6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R26M	ENST00000305377.5	37	c.77	CCDS31814.1	12	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965807	0.34659	.	.	ENSG00000170605	ENST00000305377	T	0.00488	7.04	4.98	3.16	0.36331	.	0.641907	0.14582	N	0.310818	T	0.00210	0.0006	N	0.00661	-1.28	0.38104	D	0.937361	D	0.54601	0.967	P	0.54372	0.75	T	0.72887	-0.4156	10	0.02654	T	1	-2.6083	8.9402	0.35725	0.1732:0.0:0.8268:0.0	.	26	Q8NGE7	OR9K2_HUMAN	M	26	ENSP00000307598:R26M	ENSP00000307598:R26M	R	+	2	0	OR9K2	53809896	.	.	0.916000	0.36221	0.487000	0.33371	.	.	0.815000	0.34398	-0.145000	0.13849	AGG	OR9K2	-	NULL		0.423	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	HGNC	protein_coding	OTTHUMT00000406105.1	G			55523629	+1	no_errors	ENST00000305377	ensembl	human	known	70_37	missense	SNP	0.997	T
PAFAH1B1	5048	genome.wustl.edu	37	17	2568719	2568719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:2568719C>A	ENST00000397195.5	+	3	537	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GAGGCATATTCAGTTTTTAAA	0.299																																																	0													76.0	75.0	75.0					17																	2568719		2202	4295	6497	SO:0001587	stop_gained	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.86C>A	17.37:g.2568719C>A	ENSP00000380378:p.Ser29*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S29*	ENST00000397195.5	37	c.86	CCDS32528.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.872745	0.97049	.	.	ENSG00000007168	ENST00000397195	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.7841	0.69787	0.1447:0.8553:0.0:0.0	.	.	.	.	X	29	.	ENSP00000380378:S29X	S	+	2	0	PAFAH1B1	2515469	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	5.746000	0.68681	2.621000	0.88768	0.585000	0.79938	TCA	PAFAH1B1	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pirsf_Dynein_regulator,pfscan_LisH_dimerisation		0.299	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	C	NM_000430		2568719	+1	no_errors	ENST00000397195	ensembl	human	known	70_37	nonsense	SNP	0.997	A
PAN3	255967	genome.wustl.edu	37	13	28834689	28834689	+	Splice_Site	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:28834689G>T	ENST00000380958.3	+	8	1505		c.e8+1		PAN3_ENST00000282391.5_Splice_Site|PAN3_ENST00000399613.1_Splice_Site	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTCCGACAGGTATGCTTTCA	0.388																																																	0													110.0	98.0	102.0					13																	28834689		2203	4300	6503	SO:0001630	splice_region_variant	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1353+1G>T	13.37:g.28834689G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e8+1	ENST00000380958.3	37	c.1353+1	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996600	0.93167	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAN3	27732689	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.605000	0.98321	2.686000	0.91538	0.585000	0.79938	.	PAN3	-	-		0.388	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	G	NM_175854	Intron	28834689	+1	no_errors	ENST00000380958	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PAWR	5074	genome.wustl.edu	37	12	80014939	80014939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:80014939G>A	ENST00000328827.4	-	3	937	c.565C>T	c.(565-567)Cga>Tga	p.R189*		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	189	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GCATCTTCTCGTTTCCGCTCT	0.358																																																	0													312.0	243.0	267.0					12																	80014939		2203	4300	6503	SO:0001587	stop_gained	5074			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.565C>T	12.37:g.80014939G>A	ENSP00000328088:p.Arg189*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75796|Q6FHY9|Q8N700	Nonsense_Mutation	SNP	NULL	p.R189*	ENST00000328827.4	37	c.565	CCDS31863.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.461002|6.461002	0.97585|0.97585	.|.	.|.	ENSG00000177425|ENSG00000177425	ENST00000328827|ENST00000551712	.|.	.|.	.|.	5.52|5.52	2.13|2.13	0.27403|0.27403	.|.	0.385852|.	0.26251|.	N|.	0.025451|.	.|T	.|0.48732	.|0.1516	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56643	.|-0.7945	.|3	.|.	.|.	.|.	-5.2799|-5.2799	8.88|8.88	0.35370|0.35370	0.0:0.1207:0.3357:0.5436|0.0:0.1207:0.3357:0.5436	.|.	.|.	.|.	.|.	X|M	189|134	.|.	.|.	R|T	-|-	1|2	2|0	PAWR|PAWR	78539070|78539070	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	1.060000|1.060000	0.30530|0.30530	0.770000|0.770000	0.33336|0.33336	0.650000|0.650000	0.86243|0.86243	CGA|ACG	PAWR	-	NULL		0.358	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAWR	HGNC	protein_coding	OTTHUMT00000407175.1	G	NM_002583		80014939	-1	no_errors	ENST00000328827	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ASPRV1	151516	genome.wustl.edu	37	2	70190633	70190633	+	5'Flank	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:70190633C>A	ENST00000320256.4	-	0	0				PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ATCTGGTCCCCTGGAAGTGGA	0.542																																																	0																																										SO:0001631	upstream_gene_variant	400960			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647		2.37:g.70190633C>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	NULL	ENST00000320256.4	37	c.NULL	CCDS1897.1	2																																																																																			PCBP1-AS1	-	-		0.542	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBP1-AS1	HGNC	protein_coding	OTTHUMT00000334161.1	C	NM_152792		70190633	-1	no_errors	ENST00000413436	ensembl	human	known	70_37	splice_site	SNP	0.002	A
PCDHA2	56146	genome.wustl.edu	37	5	140174652	140174652	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:140174652G>A	ENST00000526136.1	+	1	103	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA2_ENST00000520672.2_Missense_Mutation_p.V35I|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V35I|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTACTCCGTCCCCGAGGA	0.706																																																	0													34.0	40.0	38.0					5																	140174652		2203	4300	6503	SO:0001583	missense	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.103G>A	5.37:g.140174652G>A	ENSP00000431748:p.Val35Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V35I	ENST00000526136.1	37	c.103	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	g	0.698	-0.791728	0.02884	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.35789	1.29;1.29;1.29	3.66	2.78	0.32641	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.211578	0.22910	N	0.054160	T	0.19327	0.0464	N	0.25060	0.705	0.09310	N	1	P;B;P	0.40578	0.722;0.13;0.722	B;B;B	0.29785	0.075;0.08;0.107	T	0.07966	-1.0745	10	0.30854	T	0.27	.	11.3791	0.49746	0.0905:0.0:0.9095:0.0	.	35;35;35	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	I	35	ENSP00000430584:V35I;ENSP00000367372:V35I;ENSP00000431748:V35I	ENSP00000367372:V35I	V	+	1	0	PCDHA2	140154836	0.029000	0.19370	0.220000	0.23810	0.013000	0.08279	0.291000	0.18994	0.884000	0.36064	-0.274000	0.10170	GTC	PCDHA2	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.706	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	G	NM_018905		140174652	+1	no_errors	ENST00000526136	ensembl	human	known	70_37	missense	SNP	0.235	A
PGLYRP4	57115	genome.wustl.edu	37	1	153312886	153312886	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:153312886G>C	ENST00000359650.5	-	7	859	c.795C>G	c.(793-795)gaC>gaG	p.D265E	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D261E	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	265					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGAGCCTGTCTATGTAGA	0.522																																																	0													106.0	103.0	104.0					1																	153312886		2203	4300	6503	SO:0001583	missense	57115			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.795C>G	1.37:g.153312886G>C	ENSP00000352672:p.Asp265Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.D265E	ENST00000359650.5	37	c.795	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	G	8.298	0.819357	0.16607	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.17213	2.29;2.29	3.64	1.54	0.23209	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.349953	0.23926	N	0.043199	T	0.04998	0.0134	L	0.41236	1.265	0.22728	N	0.9988	P;P	0.39862	0.642;0.692	B;B	0.40009	0.211;0.316	T	0.23726	-1.0180	10	0.49607	T	0.09	-29.9991	4.4411	0.11575	0.1312:0.2336:0.6351:0.0	.	261;265	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	E	261;265	ENSP00000357728:D261E;ENSP00000352672:D265E	ENSP00000352672:D265E	D	-	3	2	PGLYRP4	151579510	0.991000	0.36638	0.724000	0.30704	0.143000	0.21401	1.548000	0.36201	0.837000	0.34925	0.655000	0.94253	GAC	PGLYRP4	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain		0.522	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	HGNC	protein_coding	OTTHUMT00000089978.1	G	NM_020393		153312886	-1	no_errors	ENST00000359650	ensembl	human	known	70_37	missense	SNP	0.574	C
PIEZO2	63895	genome.wustl.edu	37	18	10773531	10773531	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:10773531C>A	ENST00000503781.3	-	18	2588	c.2589G>T	c.(2587-2589)ggG>ggT	p.G863G	PIEZO2_ENST00000302079.6_Silent_p.G863G|PIEZO2_ENST00000580640.1_Silent_p.G888G|PIEZO2_ENST00000383408.2_Silent_p.G151G	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	863	Glu-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GCTTCTCCTCCCCAGGCTCAG	0.592																																																	0													78.0	68.0	71.0					18																	10773531		692	1591	2283	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2589G>T	18.37:g.10773531C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.G877	ENST00000503781.3	37	c.2631		18																																																																																			PIEZO2	-	NULL		0.592	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10773531	-1	no_errors	ENST00000582913	ensembl	human	known	70_37	silent	SNP	0.000	A
PHLPP1	23239	genome.wustl.edu	37	18	60645726	60645726	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:60645726G>T	ENST00000262719.5	+	17	4450	c.4216G>T	c.(4216-4218)Gcc>Tcc	p.A1406S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.A894S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1406	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GTGTACCCTGGCCCAGAGCTA	0.657																																																	0													17.0	23.0	21.0					18																	60645726		2140	4255	6395	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4216G>T	18.37:g.60645726G>T	ENSP00000262719:p.Ala1406Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.A1406S	ENST00000262719.5	37	c.4216	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852588	0.91355	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.28895	1.59;1.59	4.61	4.61	0.57282	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.56307	0.1976	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61486	-0.7053	9	0.72032	D	0.01	-18.1707	17.6551	0.88175	0.0:0.0:1.0:0.0	.	1406	O60346	PHLP1_HUMAN	S	894;1406	ENSP00000383170:A894S;ENSP00000262719:A1406S	ENSP00000262719:A1406S	A	+	1	0	PHLPP1	58796706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.494000	0.97962	2.392000	0.81423	0.655000	0.94253	GCC	PHLPP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.657	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60645726	+1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	1.000	T
PLA2G2A	5320	genome.wustl.edu	37	1	20305477	20305477	+	Intron	DEL	C	C	-	rs376364585		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:20305477delC	ENST00000375111.3	-	3	166				PLA2G2A_ENST00000400520.3_Intron|PLA2G2A_ENST00000496748.1_Intron	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)						defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	cacacacacacacacacacac	0.542																																																	0																																										SO:0001627	intron_variant	5320			BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.106-105G>-	1.37:g.20305477delC		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	RNA	DEL	-	NULL	ENST00000375111.3	37	NULL	CCDS201.1	1																																																																																			PLA2G2A	-	-		0.542	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2A	HGNC	protein_coding	OTTHUMT00000007675.1	C	NM_000300		20305477	-1	no_errors	ENST00000461140	ensembl	human	known	70_37	rna	DEL	0.000	-
POC1B	282809	genome.wustl.edu	37	12	89815013	89815013	+	Silent	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:89815013G>T	ENST00000313546.3	-	12	1482	c.1354C>A	c.(1354-1356)Cga>Aga	p.R452R	POC1B_ENST00000549035.1_Silent_p.R410R|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000393179.4_Silent_p.R322R|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000541909.1_3'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	452					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398																																																	0													37.0	34.0	35.0					12																	89815013		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1354C>A	12.37:g.89815013G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V1X0	Silent	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R452	ENST00000313546.3	37	c.1354	CCDS31869.1	12																																																																																			POC1B	-	NULL		0.398	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	G	NM_172240		89815013	-1	no_errors	ENST00000313546	ensembl	human	known	70_37	silent	SNP	1.000	T
POGZ	23126	genome.wustl.edu	37	1	151377334	151377334	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:151377334C>G	ENST00000271715.2	-	19	4491	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q	POGZ_ENST00000361398.3_Missense_Mutation_p.E1340Q|POGZ_ENST00000491586.1_Missense_Mutation_p.E1349Q|POGZ_ENST00000540984.1_Missense_Mutation_p.E755Q|POGZ_ENST00000368863.2_Missense_Mutation_p.E1298Q|POGZ_ENST00000531094.1_Missense_Mutation_p.E1331Q|POGZ_ENST00000392723.1_Missense_Mutation_p.E1340Q|POGZ_ENST00000409503.1_Missense_Mutation_p.E1384Q	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1393					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTCGGTCTCACTTTCACCC	0.498											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													104.0	103.0	104.0					1																	151377334		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.4177G>C	1.37:g.151377334C>G	ENSP00000271715:p.Glu1393Gln	Somatic	1739	WXS	Illumina HiSeq	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.E1393Q	ENST00000271715.2	37	c.4177	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770251	0.69992	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.27104	5.64;5.66;5.64;5.61;5.65;5.65;1.69;5.13	5.35	5.35	0.76521	.	0.079842	0.51477	D	0.000081	T	0.24198	0.0586	N	0.14661	0.345	0.45354	D	0.99834	D;P;D;D;D;D	0.67145	0.982;0.941;0.996;0.996;0.99;0.982	P;P;P;P;P;P	0.61874	0.715;0.616;0.895;0.895;0.852;0.715	T	0.12837	-1.0532	10	0.87932	D	0	-19.3388	17.7955	0.88568	0.0:1.0:0.0:0.0	.	1331;1384;1298;1349;1340;1393	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	Q	1340;1393;1340;1298;1384;1331;755;1349	ENSP00000376484:E1340Q;ENSP00000271715:E1393Q;ENSP00000354467:E1340Q;ENSP00000357856:E1298Q;ENSP00000386836:E1384Q;ENSP00000431259:E1331Q;ENSP00000443547:E755Q;ENSP00000418408:E1349Q	ENSP00000271715:E1393Q	E	-	1	0	POGZ	149643958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.674000	0.74487	2.780000	0.95670	0.655000	0.94253	GAG	POGZ	-	NULL		0.498	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	C	NM_207171		151377334	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP1R21	129285	genome.wustl.edu	37	2	48741940	48741940	+	3'UTR	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:48741940C>A	ENST00000294952.8	+	0	2557				PPP1R21_ENST00000281394.4_3'UTR|PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CTGCACAGAGCCGCAGGGCTG	0.463																																																	0													109.0	90.0	96.0					2																	48741940		692	1591	2283	SO:0001624	3_prime_UTR_variant	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.*57C>A	2.37:g.48741940C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	RNA	SNP	-	NULL	ENST00000294952.8	37	NULL	CCDS46278.1	2																																																																																			PPP1R21	-	-		0.463	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48741940	+1	no_errors	ENST00000476199	ensembl	human	known	70_37	rna	SNP	0.000	A
PPP1R3A	5506	genome.wustl.edu	37	7	113518693	113518693	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:113518693C>T	ENST00000284601.3	-	4	2522	c.2454G>A	c.(2452-2454)gaG>gaA	p.E818E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	818					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCTTCCTTCTCCATTTCAT	0.383																																																	0													150.0	126.0	134.0					7																	113518693		2203	4300	6503	SO:0001819	synonymous_variant	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2454G>A	7.37:g.113518693C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.E818	ENST00000284601.3	37	c.2454	CCDS5759.1	7																																																																																			PPP1R3A	-	NULL		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	C	NM_002711		113518693	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	silent	SNP	0.005	T
PRSS58	136541	genome.wustl.edu	37	7	141955406	141955406	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:141955406C>T	ENST00000552471.1	-	2	447	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G43E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	43	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GATCAGGACTCCAGCGCAGGG	0.488																																																	0													82.0	79.0	80.0					7																	141955406		2203	4300	6503	SO:0001583	missense	136541				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.128G>A	7.37:g.141955406C>T	ENSP00000446916:p.Gly43Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.G43E	ENST00000552471.1	37	c.128	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354545	0.82243	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.93488	-3.23;-3.23	5.0	5.0	0.66597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98105	0.9375	H	0.98351	4.21	0.45930	D	0.998768	D	0.89917	1.0	D	0.97110	1.0	D	0.99232	1.0882	9	0.87932	D	0	.	15.8333	0.78778	0.0:1.0:0.0:0.0	.	43	Q8IYP2	PRS58_HUMAN	E	43	ENSP00000447588:G43E;ENSP00000446916:G43E	ENSP00000307206:G43E	G	-	2	0	PRSS58	141601883	0.913000	0.31002	0.117000	0.21633	0.204000	0.24138	4.892000	0.63193	2.608000	0.88229	0.655000	0.94253	GGA	PRSS58	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.488	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	C	NM_001001317		141955406	-1	no_errors	ENST00000547058	ensembl	human	known	70_37	missense	SNP	0.889	T
PSPC1	55269	genome.wustl.edu	37	13	20279968	20279968	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:20279968G>A	ENST00000338910.4	-	8	1379	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	407	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGGGCTAAACGCATCTATGTA	0.393																																																	0													60.0	66.0	64.0					13																	20279968		1842	4093	5935	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1220C>T	13.37:g.20279968G>A	ENSP00000343966:p.Ala407Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.A407V	ENST00000338910.4	37	c.1220	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546316	0.45383	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.15017	2.46	5.29	4.44	0.53790	.	0.175079	0.49305	D	0.000149	T	0.12390	0.0301	L	0.34521	1.04	0.39128	D	0.961804	P	0.34955	0.477	B	0.20184	0.028	T	0.07290	-1.0780	10	0.30854	T	0.27	-5.1699	15.8803	0.79197	0.0:0.136:0.864:0.0	.	407	Q8WXF1	PSPC1_HUMAN	V	407;347	ENSP00000343966:A407V	ENSP00000343966:A407V	A	-	2	0	PSPC1	19177968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.226000	0.65299	1.199000	0.43173	0.491000	0.48974	GCG	PSPC1	-	NULL		0.393	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	G			20279968	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPN14	5784	genome.wustl.edu	37	1	214706239	214706239	+	Intron	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:214706239C>A	ENST00000366956.5	-	1	41				PTPN14_ENST00000491277.1_5'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14						lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTGATGCCCCCAAATCTCAGG	0.537																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001627	intron_variant	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.153+18286G>T	1.37:g.214706239C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSI0	RNA	SNP	-	NULL	ENST00000366956.5	37	NULL	CCDS1514.1	1																																																																																			PTPN14	-	-		0.537	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	C	NM_005401		214706239	-1	no_errors	ENST00000491277	ensembl	human	putative	70_37	rna	SNP	0.996	A
PTPN23	25930	genome.wustl.edu	37	3	47447988	47447988	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:47447988G>T	ENST00000265562.4	+	8	722	c.645G>T	c.(643-645)aaG>aaT	p.K215N	PTPN23_ENST00000431726.1_Missense_Mutation_p.K89N	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	215	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTACTACAAGGAGGCATGCC	0.577																																																	0													45.0	45.0	45.0					3																	47447988		2203	4300	6503	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.645G>T	3.37:g.47447988G>T	ENSP00000265562:p.Lys215Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K215N	ENST00000265562.4	37	c.645	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604335	0.66445	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.17054	2.3	5.61	1.66	0.24008	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.17959	0.0431	N	0.16266	0.395	0.58432	D	0.999999	B;D	0.76494	0.061;0.999	B;D	0.68765	0.146;0.96	T	0.09207	-1.0685	10	0.34782	T	0.22	-35.3705	4.9435	0.13978	0.3071:0.0:0.5536:0.1393	.	89;215	B4DST5;Q9H3S7	.;PTN23_HUMAN	N	180;215	ENSP00000265562:K215N	ENSP00000265562:K215N	K	+	3	2	PTPN23	47422992	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.824000	0.27379	0.339000	0.23719	-0.142000	0.14014	AAG	PTPN23	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.577	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	G	NM_015466		47447988	+1	no_errors	ENST00000265562	ensembl	human	known	70_37	missense	SNP	0.998	T
PTPRD	5789	genome.wustl.edu	37	9	8504366	8504366	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:8504366G>T	ENST00000381196.4	-	20	2260	c.1717C>A	c.(1717-1719)Caa>Aaa	p.Q573K	PTPRD_ENST00000397606.3_Missense_Mutation_p.Q563K|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q570K|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q570K|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q560K|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q560K|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q573K|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q573K|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q563K|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q573K|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q573K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	573	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCAGTCCTTGCAGCCTATAT	0.438										TSP Lung(15;0.13)																																							0													291.0	246.0	261.0					9																	8504366		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1717C>A	9.37:g.8504366G>T	ENSP00000370593:p.Gln573Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q573K	ENST00000381196.4	37	c.1717	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243333	0.22796	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.53	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108237	0.64402	D	0.000006	T	0.21841	0.0526	N	0.00648	-1.295	0.47737	D	0.999502	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B	0.14578	0.006;0.006;0.006;0.006;0.01;0.003;0.011;0.006;0.011	T	0.20605	-1.0270	9	.	.	.	.	16.4574	0.84022	0.0:0.1307:0.8693:0.0	.	563;567;573;573;570;570;560;573;573	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	573;573;560;560;573;563;570;570;573;573;573;563	ENSP00000370593:Q573K;ENSP00000348812:Q573K;ENSP00000353187:Q560K;ENSP00000351293:Q560K;ENSP00000347373:Q573K;ENSP00000380741:Q563K;ENSP00000380735:Q570K;ENSP00000440515:Q570K;ENSP00000438164:Q573K;ENSP00000417093:Q573K;ENSP00000380731:Q563K	.	Q	-	1	0	PTPRD	8494366	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.811000	0.62606	2.602000	0.87976	0.467000	0.42956	CAA	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	G			8504366	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	T
RB1CC1	9821	genome.wustl.edu	37	8	53570460	53570460	+	Silent	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr8:53570460C>G	ENST00000025008.5	-	15	2452	c.1929G>C	c.(1927-1929)gtG>gtC	p.V643V	RB1CC1_ENST00000435644.2_Silent_p.V643V|RB1CC1_ENST00000539297.1_Silent_p.V643V|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	643					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATGTCTGACTCACAGATGCCT	0.428																																					GBM(180;1701 2102 13475 42023 52570)												0													65.0	66.0	66.0					8																	53570460		2203	4300	6503	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1929G>C	8.37:g.53570460C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.V643	ENST00000025008.5	37	c.1929	CCDS34892.1	8																																																																																			RB1CC1	-	NULL		0.428	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	C	NM_014781		53570460	-1	no_errors	ENST00000025008	ensembl	human	known	70_37	silent	SNP	0.005	G
RCN2	5955	genome.wustl.edu	37	15	77239850	77239850	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:77239850G>T	ENST00000394885.3	+	5	873	c.650G>T	c.(649-651)tGg>tTg	p.W217L	RCN2_ENST00000394883.3_Missense_Mutation_p.W116L|RCN2_ENST00000320963.5_Missense_Mutation_p.W235L	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	217	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GATTACAGGTGGGATCCAAGT	0.378																																																	0													117.0	119.0	118.0					15																	77239850		2196	4294	6490	SO:0001583	missense	5955			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.650G>T	15.37:g.77239850G>T	ENSP00000378349:p.Trp217Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.W217L	ENST00000394885.3	37	c.650	CCDS10291.1	15	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213245	0.39102	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.50548	0.74;0.74;0.74	5.18	4.26	0.50523	EF-hand-like domain (1);	0.293866	0.34906	N	0.003592	T	0.27241	0.0668	N	0.08118	0	0.26130	N	0.980429	B;B;B	0.12013	0.002;0.005;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.18777	-1.0326	10	0.52906	T	0.07	-3.6011	9.9327	0.41532	0.1551:0.0:0.8449:0.0	.	116;235;217	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	L	217;235;116	ENSP00000378349:W217L;ENSP00000319739:W235L;ENSP00000378347:W116L	ENSP00000319739:W235L	W	+	2	0	RCN2	75026905	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	2.838000	0.48199	1.193000	0.43086	0.585000	0.79938	TGG	RCN2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.378	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RCN2	HGNC	protein_coding	OTTHUMT00000289795.1	G	NM_002902		77239850	+1	no_errors	ENST00000394885	ensembl	human	known	70_37	missense	SNP	1.000	T
RHBDF2	79651	genome.wustl.edu	37	17	74475004	74475004	+	Nonsense_Mutation	SNP	C	C	A	rs376555925		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:74475004C>A	ENST00000313080.4	-	6	916	c.643G>T	c.(643-645)Gga>Tga	p.G215*	RHBDF2_ENST00000591885.1_Nonsense_Mutation_p.G186*|RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.G186*|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	215					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GACAGGACTCCGGGGGTCAGC	0.677																																																	0													52.0	46.0	48.0					17																	74475004		2203	4300	6503	SO:0001587	stop_gained	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.643G>T	17.37:g.74475004C>A	ENSP00000322775:p.Gly215*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Nonsense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.G215*	ENST00000313080.4	37	c.643	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.843546	0.97881	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-36.6475	19.4888	0.95042	0.0:1.0:0.0:0.0	.	.	.	.	X	215;186;161	.	ENSP00000322775:G215X	G	-	1	0	RHBDF2	71986599	1.000000	0.71417	0.605000	0.28930	0.438000	0.31896	6.072000	0.71238	2.605000	0.88082	0.455000	0.32223	GGA	RHBDF2	-	pfam_Rhomboid_SP		0.677	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	C	NM_024599		74475004	-1	no_errors	ENST00000313080	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RHPN2	85415	genome.wustl.edu	37	19	33535269	33535269	+	Splice_Site	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr19:33535269C>T	ENST00000254260.3	-	2	106	c.71G>A	c.(70-72)gGc>gAc	p.G24D	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	24					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGATTACAGCCCTGAGGAAA	0.438																																																	0													49.0	47.0	48.0					19																	33535269		2203	4300	6503	SO:0001630	splice_region_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.70-1G>A	19.37:g.33535269C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.G24D	ENST00000254260.3	37	c.71	CCDS12427.1	19	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411965	0.62511	.	.	ENSG00000131941	ENST00000254260	T	0.31769	1.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60265	-0.7297	10	0.87932	D	0	-16.396	17.8132	0.88623	0.0:1.0:0.0:0.0	.	24	Q8IUC4	RHPN2_HUMAN	D	24	ENSP00000254260:G24D	ENSP00000254260:G24D	G	-	2	0	RHPN2	38227109	1.000000	0.71417	0.992000	0.48379	0.122000	0.20287	7.069000	0.76755	2.563000	0.86464	0.561000	0.74099	GGC	RHPN2	-	superfamily_HR1_rho-bd		0.438	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	C	NM_033103	Missense_Mutation	33535269	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	missense	SNP	1.000	T
RICTOR	253260	genome.wustl.edu	37	5	38957826	38957826	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr5:38957826G>A	ENST00000357387.3	-	25	2457	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	RICTOR_ENST00000296782.5_Silent_p.L809L|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGGAATGGAGAGAAATCTGC	0.299																																																	0													80.0	85.0	84.0					5																	38957826		2201	4296	6497	SO:0001819	synonymous_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2427C>T	5.37:g.38957826G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_ARM-type_fold	p.L809	ENST00000357387.3	37	c.2427	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold		0.299	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38957826	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	silent	SNP	0.797	A
RPE65	6121	genome.wustl.edu	37	1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	rs141527042		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388																																																	1	Substitution - Missense(1)	prostate(1)						A	LYS/ASN	1,4405		0,1,2202	85.0	89.0	87.0		597	-1.1	1.0	1	dbSNP_134	87	0,8600		0,0,4300	no	missense	RPE65	NM_000329.2	94	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	benign	199/534	68906582	1,13005	2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.597T>A	1.37:g.68906582A>T	ENSP00000262340:p.Asn199Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.N199K	ENST00000262340.5	37	c.597	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	A	3.604	-0.081012	0.07141	2.27E-4	0.0	ENSG00000116745	ENST00000262340	D	0.94330	-3.4	5.43	-1.07	0.09968	.	0.252895	0.46145	D	0.000305	T	0.73369	0.3578	L	0.29908	0.895	0.49798	D	0.999825	B	0.09022	0.002	B	0.08055	0.003	T	0.65356	-0.6188	10	0.02654	T	1	-11.0024	11.6572	0.51325	0.6145:0.0:0.3855:0.0	.	199	Q16518	RPE65_HUMAN	K	199	ENSP00000262340:N199K	ENSP00000262340:N199K	N	-	3	2	RPE65	68679170	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	0.876000	0.28092	-0.164000	0.10927	-0.361000	0.07541	AAT	RPE65	-	pfam_Carotenoid_Oase		0.388	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	A	NM_000329		68906582	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	0.997	T
SCAF4	57466	genome.wustl.edu	37	21	33065619	33065619	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr21:33065619C>T	ENST00000286835.7	-	12	1883	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	SCAF4_ENST00000434667.3_Missense_Mutation_p.E486K|SCAF4_ENST00000399804.1_Missense_Mutation_p.E501K	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	501						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTTGCAGTTTCCGGTTTCACT	0.403																																																	0													129.0	129.0	129.0					21																	33065619		2203	4300	6503	SO:0001583	missense	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1501G>A	21.37:g.33065619C>T	ENSP00000286835:p.Glu501Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.E501K	ENST00000286835.7	37	c.1501	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101944	0.56183	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.169147	0.41712	D	0.000821	T	0.49012	0.1532	L	0.33485	1.01	0.58432	D	0.999993	D;D;D;D	0.69078	0.996;0.97;0.997;0.996	P;P;P;P	0.61800	0.787;0.607;0.894;0.787	T	0.27971	-1.0058	10	0.10636	T	0.68	-20.2023	18.752	0.91819	0.0:1.0:0.0:0.0	.	486;501;501;501	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	K	486;501;501	ENSP00000402377:E486K;ENSP00000286835:E501K;ENSP00000382703:E501K	ENSP00000286835:E501K	E	-	1	0	SCAF4	31987490	0.996000	0.38824	0.977000	0.42913	0.992000	0.81027	2.625000	0.46452	2.418000	0.82041	0.563000	0.77884	GAA	SCAF4	-	NULL		0.403	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	C	XM_047889		33065619	-1	no_errors	ENST00000286835	ensembl	human	known	70_37	missense	SNP	0.997	T
SCN5A	6331	genome.wustl.edu	37	3	38595846	38595846	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:38595846C>A	ENST00000333535.4	-	27	4886	c.4737G>T	c.(4735-4737)ctG>ctT	p.L1579L	SCN5A_ENST00000423572.2_Silent_p.L1578L|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000414099.2_Silent_p.L1561L|SCN5A_ENST00000425664.1_Silent_p.L1561L|SCN5A_ENST00000443581.1_Silent_p.L1578L|SCN5A_ENST00000450102.2_Silent_p.L1525L|SCN5A_ENST00000449557.2_Silent_p.L1525L|SCN5A_ENST00000451551.2_Silent_p.L1525L|SCN5A_ENST00000413689.1_Silent_p.L1579L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1579					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGGGCAGCCAGCTTGACAA	0.507																																																	0													137.0	149.0	145.0					3																	38595846		2122	4254	6376	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4737G>T	3.37:g.38595846C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L1579	ENST00000333535.4	37	c.4737	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	C	NM_198056		38595846	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	silent	SNP	0.926	A
SCN8A	6334	genome.wustl.edu	37	12	52163093	52163093	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:52163093G>A	ENST00000354534.6	+	17	3524	c.3346G>A	c.(3346-3348)Gag>Aag	p.E1116K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E1116K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1116					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGTTAGCAGCGAGTCGGATCC	0.522																																																	0													83.0	82.0	82.0					12																	52163093		2198	4295	6493	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3346G>A	12.37:g.52163093G>A	ENSP00000346534:p.Glu1116Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E1116K	ENST00000354534.6	37	c.3346	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574436	0.65878	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.84223	-1.82;-1.82;-1.82	5.1	4.21	0.49690	Sodium ion transport-associated (1);	0.458961	0.25310	N	0.031586	D	0.82976	0.5154	M	0.64630	1.985	0.53688	D	0.999972	B;P	0.46220	0.293;0.874	B;B	0.40741	0.135;0.339	D	0.83703	0.0183	10	0.45353	T	0.12	.	13.9312	0.63996	0.0731:0.0:0.9269:0.0	.	1116;1116	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	K	1116;1116;1116;1029	ENSP00000346534:E1116K;ENSP00000440360:E1116K;ENSP00000347255:E1116K	ENSP00000346534:E1116K	E	+	1	0	SCN8A	50449360	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.851000	0.86920	1.536000	0.49237	0.643000	0.83706	GAG	SCN8A	-	pfam_Na_trans_assoc		0.522	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52163093	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A
SCUBE2	57758	genome.wustl.edu	37	11	9074758	9074758	+	Silent	SNP	C	C	T	rs535859288		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:9074758C>T	ENST00000309263.3	-	12	1407	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	SCUBE2_ENST00000520467.1_Silent_p.V445V|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Silent_p.V445V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	445						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GGAGCCCCTTCACTTCTAGAC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20118	0.0		0.0	False		,,,				2504	0.0																0													72.0	60.0	64.0					11																	9074758		2201	4296	6497	SO:0001819	synonymous_variant	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1335G>A	11.37:g.9074758C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKQ8|Q6ZWI1	Silent	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V445	ENST00000309263.3	37	c.1335		11																																																																																			SCUBE2	-	NULL		0.527	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	C	NM_020974		9074758	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	silent	SNP	0.960	T
SEMA3E	9723	genome.wustl.edu	37	7	83021871	83021871	+	Splice_Site	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:83021871C>A	ENST00000307792.3	-	14	2134	c.1667G>T	c.(1666-1668)aGg>aTg	p.R556M	SEMA3E_ENST00000427262.1_Splice_Site_p.R496M	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	556					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACGTCTCACCTTTTTGCATG	0.438																																																	0													99.0	87.0	91.0					7																	83021871		2203	4300	6503	SO:0001630	splice_region_variant	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1667+1G>T	7.37:g.83021871C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R556M	ENST00000307792.3	37	c.1667	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657757	0.67586	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22945	1.93;1.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.53408	-0.8443	9	.	.	.	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	556	O15041	SEM3E_HUMAN	M	556;496;556	ENSP00000303212:R556M;ENSP00000405052:R496M	.	R	-	2	0	SEMA3E	82859807	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.248000	0.65421	2.652000	0.90054	0.585000	0.79938	AGG	SEMA3E	-	superfamily_Plexin-like_fold,smart_Plexin-like		0.438	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	C	NM_012431	Missense_Mutation	83021871	-1	no_errors	ENST00000307792	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC25A44	9673	genome.wustl.edu	37	1	156177791	156177791	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:156177791G>A	ENST00000359511.4	+	3	912	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.R224Q	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	247					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GATGTCATACGAACCCGTGTG	0.562																																																	0													104.0	88.0	94.0					1																	156177791		2203	4300	6503	SO:0001583	missense	9673			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.740G>A	1.37:g.156177791G>A	ENSP00000352497:p.Arg247Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75034	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R247Q	ENST00000359511.4	37	c.740	CCDS1133.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.139069	0.94560	.	.	ENSG00000160785	ENST00000359511;ENST00000423538	T;T	0.80738	-1.41;-1.41	4.89	4.89	0.63831	Mitochondrial carrier domain (2);	0.071767	0.56097	D	0.000038	D	0.91523	0.7323	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93440	0.6793	10	0.87932	D	0	0.4113	15.6307	0.76906	0.0:0.0:1.0:0.0	.	224;224;247	E9PGQ0;B4DGC4;Q96H78	.;.;S2544_HUMAN	Q	247;224	ENSP00000352497:R247Q;ENSP00000407560:R224Q	ENSP00000352497:R247Q	R	+	2	0	SLC25A44	154444415	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.291000	0.96070	2.536000	0.85505	0.637000	0.83480	CGA	SLC25A44	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier		0.562	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1	G	NM_014655		156177791	+1	no_errors	ENST00000359511	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC38A3	10991	genome.wustl.edu	37	3	50251894	50251894	+	RNA	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:50251894C>A	ENST00000420502.1	+	0	315									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		AAAGTCCCAGCAAGGAGCCAC	0.592																																																	0													25.0	30.0	29.0					3																	50251894		2089	4209	6298			10991			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50251894C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000420502.1	37	NULL		3																																																																																			SLC38A3	-	-		0.592	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	SLC38A3	HGNC	processed_transcript	OTTHUMT00000345635.2	C	NM_006841		50251894	+1	no_errors	ENST00000414604	ensembl	human	known	70_37	rna	SNP	1.000	A
SLC38A5	92745	genome.wustl.edu	37	X	48317943	48317943	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chrX:48317943G>C	ENST00000376876.3	-	15	2139	c.1296C>G	c.(1294-1296)ttC>ttG	p.F432L	SLC38A5_ENST00000376875.1_Missense_Mutation_p.F381L|SLC38A5_ENST00000317669.5_Missense_Mutation_p.F432L|SLC38A5_ENST00000480105.1_5'UTR			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	432					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCCAGGATAAGAAAGGCTCCA	0.572																																																	0													51.0	43.0	46.0					X																	48317943		2201	4299	6500	SO:0001583	missense	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1296C>G	X.37:g.48317943G>C	ENSP00000366073:p.Phe432Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.F432L	ENST00000376876.3	37	c.1296	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	0.816	-0.750290	0.03041	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.01981	4.52;4.52;4.52	5.28	1.14	0.20703	.	0.570552	0.15303	N	0.269503	T	0.00608	0.0020	N	0.00427	-1.505	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.07813	T	0.8	.	4.7421	0.13017	0.1015:0.5232:0.2449:0.1304	.	432	Q8WUX1	S38A5_HUMAN	L	432;381;432	ENSP00000366073:F432L;ENSP00000366071:F381L;ENSP00000313740:F432L	ENSP00000313740:F432L	F	-	3	2	SLC38A5	48202887	0.000000	0.05858	0.083000	0.20561	0.825000	0.46686	-0.047000	0.11963	0.075000	0.16796	0.523000	0.50628	TTC	SLC38A5	-	pfam_AA_transpt_TM		0.572	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48317943	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	missense	SNP	0.001	C
SOCS6	9306	genome.wustl.edu	37	18	67993397	67993397	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr18:67993397G>A	ENST00000397942.3	+	2	1809	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R498H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	498	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ATGCAGGTGCGCTCGTTGCAG	0.448																																					Melanoma(84;1024 1361 24382 36583 42651)												0													101.0	87.0	92.0					18																	67993397		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1493G>A	18.37:g.67993397G>A	ENSP00000381034:p.Arg498His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R498H	ENST00000397942.3	37	c.1493	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350771	0.24512	.	.	ENSG00000170677	ENST00000397942	T	0.52057	0.68	5.7	3.93	0.45458	SOCS protein, C-terminal (4);SH2 motif (1);	0.066206	0.64402	D	0.000007	T	0.55257	0.1909	M	0.88775	2.98	0.80722	D	1	B	0.17465	0.022	B	0.21546	0.035	T	0.56655	-0.7943	10	0.54805	T	0.06	-12.0302	12.2201	0.54429	0.1367:0.0:0.8633:0.0	.	498	O14544	SOCS6_HUMAN	H	498	ENSP00000381034:R498H	ENSP00000381034:R498H	R	+	2	0	SOCS6	66144377	1.000000	0.71417	0.871000	0.34182	0.047000	0.14425	7.856000	0.86956	0.771000	0.33359	-0.258000	0.10820	CGC	SOCS6	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.448	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	G			67993397	+1	no_errors	ENST00000397942	ensembl	human	known	70_37	missense	SNP	1.000	A
SOX15	6665	genome.wustl.edu	37	17	7491864	7491864	+	Splice_Site	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:7491864G>T	ENST00000250055.2	-	2	1027	c.534C>A	c.(532-534)ggC>ggA	p.G178G	MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_Splice_Site_p.G178G	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	178					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						AGTGGGAAGAGCTGCAGAGAG	0.617																																																	0													67.0	75.0	73.0					17																	7491864		2203	4300	6503	SO:0001630	splice_region_variant	6665			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"""SRY (sex determining region Y)-boxes"""	11196	protein-coding gene	gene with protein product		601297	"""SRY (sex determining region Y)-box 20"""	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.534-1C>A	17.37:g.7491864G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G178	ENST00000250055.2	37	c.534	CCDS32549.1	17																																																																																			SOX15	-	NULL		0.617	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	G	NM_006942	Silent	7491864	-1	no_errors	ENST00000250055	ensembl	human	known	70_37	silent	SNP	0.994	T
SOX5	6660	genome.wustl.edu	37	12	23999045	23999045	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:23999045C>T	ENST00000451604.2	-	3	454	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SOX5_ENST00000309359.1_Missense_Mutation_p.R105Q|SOX5_ENST00000545921.1_Missense_Mutation_p.R108Q|SOX5_ENST00000381381.2_Missense_Mutation_p.R105Q|SOX5_ENST00000537393.1_Missense_Mutation_p.R83Q|SOX5_ENST00000546136.1_Missense_Mutation_p.R105Q|SOX5_ENST00000541847.1_Missense_Mutation_p.R108Q|SOX5_ENST00000441133.2_Missense_Mutation_p.R83Q|SOX5_ENST00000541536.1_Missense_Mutation_p.R105Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	118					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCACTCTGTCGCCCACCTTC	0.483																																																	0													127.0	114.0	119.0					12																	23999045		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.353G>A	12.37:g.23999045C>T	ENSP00000398273:p.Arg118Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R118Q	ENST00000451604.2	37	c.353	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.113978	0.97296	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98044	-4.63;-4.63;-4.62;-4.68;-4.32;-4.62;-4.63	5.79	5.79	0.91817	.	0.133554	0.51477	D	0.000086	D	0.98409	0.9471	L	0.60455	1.87	0.54753	D	0.999984	D;D;D;D	0.89917	0.998;0.999;0.997;1.0	D;D;D;D	0.87578	0.986;0.939;0.947;0.998	D	0.99056	1.0829	10	0.56958	D	0.05	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	83;83;105;118	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	Q	105;105;105;118;70;83;105;108;108;83;105	ENSP00000437487:R105Q;ENSP00000308927:R105Q;ENSP00000370788:R105Q;ENSP00000398273:R118Q;ENSP00000439832:R83Q;ENSP00000441973:R105Q;ENSP00000443520:R108Q	ENSP00000308927:R105Q	R	-	2	0	SOX5	23890312	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	CGA	SOX5	-	NULL		0.483	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	C	NM_006940		23999045	-1	no_errors	ENST00000451604	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131395181	131395181	+	Missense_Mutation	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr9:131395181C>T	ENST00000372731.4	+	55	7350	c.7240C>T	c.(7240-7242)Cgg>Tgg	p.R2414W	SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2419W|WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2419W	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2414	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCGCCTTCCGGGCCCTCAG	0.537																																					NSCLC(120;833 1744 2558 35612 37579)												0													96.0	101.0	99.0					9																	131395181		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7240C>T	9.37:g.131395181C>T	ENSP00000361816:p.Arg2414Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R2419W	ENST00000372731.4	37	c.7255	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.445596	0.96187	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55930	0.49;0.49;0.49	5.69	5.69	0.88448	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78817	0.4343	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.967	D;P;P	0.97110	1.0;0.738;0.717	T	0.82184	-0.0583	10	0.87932	D	0	.	19.8052	0.96529	0.0:1.0:0.0:0.0	.	2394;2419;2414	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	W	2419;2414;2419;2394	ENSP00000350882:R2419W;ENSP00000361816:R2414W;ENSP00000361824:R2419W	ENSP00000350882:R2419W	R	+	1	2	SPTAN1	130435002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.293000	0.78740	2.688000	0.91661	0.561000	0.74099	CGG	SPTAN1	-	pfam_EF-hand_Ca_insen		0.537	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131395181	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	T
SSPO	23145	genome.wustl.edu	37	7	149493752	149493752	+	RNA	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:149493752G>T	ENST00000378016.2	+	0	6748							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTCCTGAGAGGGGGCCCTTG	0.652																																																	0													115.0	117.0	116.0					7																	149493752		2134	4239	6373			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493752G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.652	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149493752	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	0.030	T
STOML3	161003	genome.wustl.edu	37	13	39541032	39541032	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr13:39541032G>T	ENST00000379631.4	-	7	1150	c.806C>A	c.(805-807)cCc>cAc	p.P269H	STOML3_ENST00000423210.1_Missense_Mutation_p.P260H	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	269					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TATATTCATGGGCAGAGGAAA	0.502																																																	0													100.0	95.0	97.0					13																	39541032		2203	4300	6503	SO:0001583	missense	161003			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.806C>A	13.37:g.39541032G>T	ENSP00000368952:p.Pro269His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E285|Q5JS35	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.P269H	ENST00000379631.4	37	c.806	CCDS9367.1	13	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000280	0.93227	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99582	-6.22;-6.22	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97225	0.9880	10	0.87932	D	0	-28.7821	17.8702	0.88808	0.0:0.0:1.0:0.0	.	260;269	B4E285;Q8TAV4	.;STML3_HUMAN	H	269;260	ENSP00000368952:P269H;ENSP00000401989:P260H	ENSP00000368952:P269H	P	-	2	0	STOML3	38439032	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.480000	0.97931	2.552000	0.86080	0.655000	0.94253	CCC	STOML3	-	NULL		0.502	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STOML3	HGNC	protein_coding	OTTHUMT00000044604.2	G			39541032	-1	no_errors	ENST00000379631	ensembl	human	known	70_37	missense	SNP	1.000	T
TDRD6	221400	genome.wustl.edu	37	6	46661389	46661389	+	Missense_Mutation	SNP	G	G	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:46661389G>C	ENST00000316081.6	+	1	5524	c.5524G>C	c.(5524-5526)Gat>Cat	p.D1842H	TDRD6_ENST00000544460.1_Missense_Mutation_p.D1842H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1842					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTTTCTCCTGATGATGAATC	0.398																																																	0													59.0	64.0	62.0					6																	46661389		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5524G>C	6.37:g.46661389G>C	ENSP00000346065:p.Asp1842His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D1842H	ENST00000316081.6	37	c.5524	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254376	0.59212	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14516	2.5;2.5	5.57	4.7	0.59300	.	0.665564	0.14954	N	0.288730	T	0.16514	0.0397	L	0.54323	1.7	0.20703	N	0.999868	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.819	T	0.06285	-1.0835	10	0.52906	T	0.07	-0.1727	11.8998	0.52675	0.0804:0.0:0.9196:0.0	.	1842;1842	F5H5M3;O60522	.;TDRD6_HUMAN	H	1842	ENSP00000443299:D1842H;ENSP00000346065:D1842H	ENSP00000346065:D1842H	D	+	1	0	TDRD6	46769348	0.001000	0.12720	0.287000	0.24848	0.963000	0.63663	0.548000	0.23314	1.352000	0.45808	0.563000	0.77884	GAT	TDRD6	-	NULL		0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46661389	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.262	C
TAAR5	9038	genome.wustl.edu	37	6	132910643	132910643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:132910643G>T	ENST00000258034.2	-	1	234	c.183C>A	c.(181-183)taC>taA	p.Y61*		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	61					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCGCTTTGAAGTAGGACACAG	0.547																																																	0													192.0	188.0	190.0					6																	132910643		2203	4300	6503	SO:0001587	stop_gained	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.183C>A	6.37:g.132910643G>T	ENSP00000258034:p.Tyr61*	Somatic		WXS	Illumina HiSeq	Phase_IV	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.Y61*	ENST00000258034.2	37	c.183	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756052	0.89843	.	.	ENSG00000135569	ENST00000258034	.	.	.	5.43	2.71	0.32032	.	0.113463	0.35970	N	0.002863	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-15.5446	8.6304	0.33915	0.3825:0.0:0.6174:0.0	.	.	.	.	X	61	.	ENSP00000258034:Y61X	Y	-	3	2	TAAR5	132952336	0.235000	0.23794	0.994000	0.49952	0.954000	0.61252	-0.136000	0.10405	0.420000	0.25954	-0.150000	0.13652	TAC	TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Trace_amine_rcpt		0.547	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	G	NM_003967		132910643	-1	no_errors	ENST00000258034	ensembl	human	known	70_37	nonsense	SNP	0.963	T
TENM4	26011	genome.wustl.edu	37	11	78369502	78369502	+	Silent	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr11:78369502C>A	ENST00000278550.7	-	34	8373	c.7911G>T	c.(7909-7911)ggG>ggT	p.G2637G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2637					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGTTCGCCGCCCCCCACTGA	0.542																																																	0													58.0	62.0	61.0					11																	78369502		2073	4216	6289	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7911G>T	11.37:g.78369502C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G2637	ENST00000278550.7	37	c.7911	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78369502	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	0.998	A
TESPA1	9840	genome.wustl.edu	37	12	55354986	55354986	+	Missense_Mutation	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr12:55354986G>T	ENST00000449076.1	-	10	1665	c.1533C>A	c.(1531-1533)caC>caA	p.H511Q	TESPA1_ENST00000532804.1_Missense_Mutation_p.H373Q|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.H511Q|TESPA1_ENST00000524622.1_Missense_Mutation_p.H373Q|TESPA1_ENST00000531122.1_Missense_Mutation_p.H373Q	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	511					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCTGGTGGTGGTGGGGGTGCC	0.542																																																	0													149.0	177.0	168.0					12																	55354986		2193	4297	6490	SO:0001583	missense	9840			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1533C>A	12.37:g.55354986G>T	ENSP00000400892:p.His511Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.H511Q	ENST00000449076.1	37	c.1533	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880388	0.33255	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.46063	0.88;0.88;0.9;0.9;0.88	4.15	2.29	0.28610	.	1.814120	0.02557	N	0.096323	T	0.33818	0.0876	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.23797	-1.0178	10	0.52906	T	0.07	0.0186	5.763	0.18211	0.106:0.1979:0.6962:0.0	.	511	A2RU30	K0748_HUMAN	Q	373;373;511;511;373	ENSP00000435622:H373Q;ENSP00000432030:H373Q;ENSP00000400892:H511Q;ENSP00000312679:H511Q;ENSP00000433098:H373Q	ENSP00000312679:H511Q	H	-	3	2	KIAA0748	53641253	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.628000	0.24522	0.700000	0.31782	0.650000	0.86243	CAC	TESPA1	-	NULL		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	G	NM_001098815		55354986	-1	no_errors	ENST00000316577	ensembl	human	known	70_37	missense	SNP	0.001	T
TMEM104	54868	genome.wustl.edu	37	17	72832676	72832676	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:72832676G>A	ENST00000335464.5	+	10	1503	c.1341G>A	c.(1339-1341)agG>agA	p.R447R	TMEM104_ENST00000582330.1_Silent_p.R447R|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	447						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACTGCCGCAGGGACACCCAGC	0.652																																																	0													57.0	47.0	51.0					17																	72832676		2203	4300	6503	SO:0001819	synonymous_variant	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1341G>A	17.37:g.72832676G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.R447	ENST00000335464.5	37	c.1341	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM		0.652	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	G	NM_017728		72832676	+1	no_errors	ENST00000335464	ensembl	human	known	70_37	silent	SNP	0.989	A
TRA2A	29896	genome.wustl.edu	37	7	23545179	23545179	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr7:23545179C>T	ENST00000297071.4	-	8	1064	c.848G>A	c.(847-849)tGa>tAa	p.*283*	TRA2A_ENST00000392502.4_Silent_p.*181*|TRA2A_ENST00000538367.1_Silent_p.*182*|TRA2A_ENST00000474586.1_5'Flank	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	0					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ATTCCGTTATCAATAGCGTCC	0.274																																					Pancreas(121;2137 2973 46590)												0													12.0	12.0	12.0					7																	23545179		1217	2256	3473	SO:0001819	synonymous_variant	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.848G>A	7.37:g.23545179C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUA9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.*283	ENST00000297071.4	37	c.848	CCDS5383.1	7																																																																																			TRA2A	-	NULL		0.274	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	C	NM_013293		23545179	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	silent	SNP	0.971	T
TRA2B	6434	genome.wustl.edu	37	3	185655769	185655769	+	5'UTR	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:185655769C>G	ENST00000453386.2	-	0	155				TRA2B_ENST00000342294.4_5'UTR|TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CCGCTCAGAGCCGAAATGCTC	0.657																																																	0																																										SO:0001623	5_prime_UTR_variant	6434			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.-121G>C	3.37:g.185655769C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVK2|D3DNU3|O15449|Q15815|Q64283	RNA	SNP	-	NULL	ENST00000453386.2	37	NULL	CCDS33905.1	3																																																																																			TRA2B	-	-		0.657	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	C	NM_004593		185655769	-1	no_errors	ENST00000465245	ensembl	human	known	70_37	rna	SNP	0.000	G
TRABD2B	388630	genome.wustl.edu	37	1	48460235	48460235	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:48460235C>A	ENST00000606738.2	-	2	242	c.137G>T	c.(136-138)cGg>cTg	p.R46L	TRABD2B_ENST00000435576.2_5'Flank	NM_001194986.1	NP_001181915.1	A6NFA1	TIKI2_HUMAN	TraB domain containing 2B	46					metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										AGGATCACGCCGAATCGTCCA	0.587																																																	0																																										SO:0001583	missense	388630				CCDS58000.1	1p33	2012-07-04			ENSG00000204018				44200	protein-coding gene	gene with protein product		614913					Standard	NM_001194986		Approved		uc021ong.1	A6NFA1	OTTHUMG00000007960	ENST00000606738.2:c.137G>T	1.37:g.48460235C>A	ENSP00000476820:p.Arg46Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	I6U4Y0	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.R46L	ENST00000606738.2	37	c.137	CCDS58000.1	1																																																																																			TRABD2B	-	NULL		0.587	TRABD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRABD2B	HGNC	protein_coding	OTTHUMT00000021842.3	C	NM_001194986		48460235	-1	no_errors	ENST00000371865	ensembl	human	known	70_37	missense	SNP	0.988	A
RANBP10	57610	genome.wustl.edu	37	16	67841097	67841097	+	5'Flank	SNP	G	G	C			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:67841097G>C	ENST00000317506.3	-	0	0				RANBP10_ENST00000448631.2_5'Flank|RANBP10_ENST00000602887.1_5'Flank|RANBP10_ENST00000411657.2_5'Flank|TSNAXIP1_ENST00000415766.3_Silent_p.S15S|TSNAXIP1_ENST00000388833.3_5'UTR|RANBP10_ENST00000536251.1_5'Flank|TSNAXIP1_ENST00000561639.1_Silent_p.S15S|RANBP10_ENST00000602677.1_5'Flank|RANBP10_ENST00000425512.2_5'Flank	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10						microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGTCCGCGTCGAGGTAGGCGC	0.632																																																	0																																										SO:0001631	upstream_gene_variant	55815			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20			16.37:g.67841097G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	NULL	p.S15	ENST00000317506.3	37	c.45	CCDS32469.1	16																																																																																			TSNAXIP1	-	NULL		0.632	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000467896.1	G	NM_020850		67841097	+1	no_errors	ENST00000568990	ensembl	human	known	70_37	silent	SNP	0.099	C
TTLL5	23093	genome.wustl.edu	37	14	76243152	76243152	+	Silent	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr14:76243152G>T	ENST00000298832.9	+	23	2551	c.2346G>T	c.(2344-2346)ggG>ggT	p.G782G	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Silent_p.G291G|TTLL5_ENST00000556893.1_Silent_p.G333G|TTLL5_ENST00000557636.1_Silent_p.G796G	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	782					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGAAGATGGGGTGAATATGG	0.388																																																	0													130.0	127.0	128.0					14																	76243152		2203	4300	6503	SO:0001819	synonymous_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2346G>T	14.37:g.76243152G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_Tub_tyr_ligase	p.G782	ENST00000298832.9	37	c.2346	CCDS32124.1	14																																																																																			TTLL5	-	NULL		0.388	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	G	NM_015072		76243152	+1	no_errors	ENST00000298832	ensembl	human	known	70_37	silent	SNP	0.934	T
TTN	7273	genome.wustl.edu	37	2	179446852	179446852	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr2:179446852C>G	ENST00000591111.1	-	265	61545	c.61321G>C	c.(61321-61323)Gat>Cat	p.D20441H	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13142H|TTN_ENST00000460472.2_Missense_Mutation_p.D13017H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19514H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13209H|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22082H			Q8WZ42	TITIN_HUMAN	titin	20441	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCCCCCATCATCTGCTGGT	0.458																																																	0													114.0	113.0	114.0					2																	179446852		1873	4123	5996	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61321G>C	2.37:g.179446852C>G	ENSP00000465570:p.Asp20441His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D19514H	ENST00000591111.1	37	c.58540		2	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600252	0.46423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.68	4.79	0.61399	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79015	0.4375	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.60789	0.879;0.879;0.879;0.879	D	0.84826	0.0799	9	0.87932	D	0	.	15.8729	0.79136	0.1365:0.8635:0.0:0.0	.	13017;13142;13209;20441	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19514;13017;13209;13142;13015	ENSP00000343764:D19514H;ENSP00000434586:D13017H;ENSP00000340554:D13209H;ENSP00000352154:D13142H	ENSP00000340554:D13209H	D	-	1	0	TTN	179155098	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	1.360000	0.45960	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179446852	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19401341	19401341	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr1:19401341C>T	ENST00000375254.3	-	106	15564	c.15537G>A	c.(15535-15537)ttG>ttA	p.L5179L	RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375217.2_Silent_p.L5172L|UBR4_ENST00000543981.1_Silent_p.L843L|UBR4_ENST00000375226.2_Silent_p.L5155L|UBR4_ENST00000429347.2_Silent_p.L702L|UBR4_ENST00000375224.1_Silent_p.L886L|UBR4_ENST00000375225.3_Silent_p.L254L|UBR4_ENST00000375267.2_Silent_p.L5200L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5179					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGACTGAGTTCAACAGGTCCT	0.562																																																	0													91.0	88.0	89.0					1																	19401341		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15537G>A	1.37:g.19401341C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L5200	ENST00000375254.3	37	c.15600	CCDS189.1	1																																																																																			UBR4	-	NULL		0.562	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19401341	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	1.000	T
ULK4	54986	genome.wustl.edu	37	3	41723000	41723000	+	Splice_Site	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr3:41723000G>T	ENST00000301831.4	-	29	3439	c.2977C>A	c.(2977-2979)Cag>Aag	p.Q993K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	993					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GATACTTACTGGGGAAGTAAG	0.473																																																	0													113.0	109.0	111.0					3																	41723000		1951	4129	6080	SO:0001630	splice_region_variant	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2978+1C>A	3.37:g.41723000G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q993K	ENST00000301831.4	37	c.2977	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	g	14.14	2.446785	0.43429	.	.	ENSG00000168038	ENST00000301831	T	0.65364	-0.15	5.75	4.86	0.63082	Armadillo-type fold (1);	0.108664	0.39341	U	0.001386	T	0.43787	0.1263	N	0.24115	0.695	0.80722	D	1	P	0.34934	0.476	B	0.26517	0.07	T	0.40608	-0.9554	10	0.38643	T	0.18	.	11.6096	0.51052	0.0:0.1349:0.7247:0.1403	.	993	Q96C45	ULK4_HUMAN	K	993	ENSP00000301831:Q993K	ENSP00000301831:Q993K	Q	-	1	0	ULK4	41698004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.875000	0.56108	1.400000	0.46741	0.655000	0.94253	CAG	ULK4	-	superfamily_ARM-type_fold		0.473	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	G	XM_929989	Missense_Mutation	41723000	-1	no_errors	ENST00000301831	ensembl	human	known	70_37	missense	SNP	1.000	T
UNC79	57578	genome.wustl.edu	37	14	94008991	94008991	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr14:94008991C>T	ENST00000393151.2	+	14	1704	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R	UNC79_ENST00000553484.1_Silent_p.R568R|UNC79_ENST00000256339.4_Silent_p.R391R|UNC79_ENST00000555664.1_Silent_p.R568R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	568					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGATGTTCGCTTCGATGTCA	0.493																																																	0													279.0	241.0	254.0					14																	94008991		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1704C>T	14.37:g.94008991C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.R568	ENST00000393151.2	37	c.1704		14																																																																																			UNC79	-	NULL		0.493	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	C	XM_028395		94008991	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	0.999	T
USP22	23326	genome.wustl.edu	37	17	20919144	20919144	+	Silent	SNP	C	C	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:20919144C>T	ENST00000261497.4	-	6	962	c.759G>A	c.(757-759)agG>agA	p.R253R	USP22_ENST00000537526.2_Silent_p.R241R|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	253	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CTGCTAGGTGCCTCGCGTGGG	0.632																																																	0													50.0	60.0	57.0					17																	20919144		2052	4186	6238	SO:0001819	synonymous_variant	23326			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.759G>A	17.37:g.20919144C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R253	ENST00000261497.4	37	c.759	CCDS42285.1	17																																																																																			USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.632	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	C			20919144	-1	no_errors	ENST00000261497	ensembl	human	known	70_37	silent	SNP	0.999	T
UST	10090	genome.wustl.edu	37	6	149340342	149340342	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr6:149340342C>A	ENST00000367463.4	+	6	852	c.749C>A	c.(748-750)cCg>cAg	p.P250Q		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	250					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TACATCATTCCGTACTTTTGT	0.473																																																	0													161.0	153.0	156.0					6																	149340342		2203	4300	6503	SO:0001583	missense	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.749C>A	6.37:g.149340342C>A	ENSP00000356433:p.Pro250Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCX6	Missense_Mutation	SNP	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase	p.P250Q	ENST00000367463.4	37	c.749	CCDS5213.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.227438	0.95173	.	.	ENSG00000111962	ENST00000367463	T	0.48201	0.82	5.95	5.95	0.96441	.	0.102252	0.64402	D	0.000002	T	0.52158	0.1717	L	0.54965	1.715	0.80722	D	1	P	0.49783	0.928	P	0.58077	0.832	T	0.23904	-1.0175	10	0.21014	T	0.42	-18.3894	20.3932	0.98965	0.0:1.0:0.0:0.0	.	250	Q9Y2C2	UST_HUMAN	Q	250	ENSP00000356433:P250Q	ENSP00000356433:P250Q	P	+	2	0	UST	149382035	1.000000	0.71417	0.887000	0.34795	0.993000	0.82548	7.794000	0.85869	2.824000	0.97209	0.655000	0.94253	CCG	UST	-	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase		0.473	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UST	HGNC	protein_coding	OTTHUMT00000043363.1	C	NM_005715		149340342	+1	no_errors	ENST00000367463	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1634405	1634405	+	Missense_Mutation	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr17:1634405G>A	ENST00000409644.1	+	4	4010	c.4010G>A	c.(4009-4011)cGt>cAt	p.R1337H	WDR81_ENST00000309182.5_Missense_Mutation_p.R286H|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000437219.2_Missense_Mutation_p.R134H|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.R110H|WDR81_ENST00000545662.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1337					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGAACAGCCGTAAGGAGGCG	0.652																																																	0													33.0	31.0	32.0					17																	1634405		2203	4300	6503	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4010G>A	17.37:g.1634405G>A	ENSP00000386609:p.Arg1337His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1337H	ENST00000409644.1	37	c.4010	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.905086	0.97087	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644;ENST00000354680	T;T;T;T	0.55413	2.27;2.23;2.28;0.52	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.71126	0.3303	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.987	T	0.71358	-0.4617	10	0.66056	D	0.02	.	19.0936	0.93240	0.0:0.0:1.0:0.0	.	134;464;286	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	H	134;134;286;110;1337;88	ENSP00000391074:R134H;ENSP00000312074:R286H;ENSP00000407845:R110H;ENSP00000386609:R1337H	ENSP00000312074:R286H	R	+	2	0	WDR81	1581155	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.461000	0.97646	2.757000	0.94681	0.655000	0.94253	CGT	WDR81	-	NULL		0.652	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1634405	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	1.000	A
XYLT1	64131	genome.wustl.edu	37	16	17292212	17292212	+	Silent	SNP	G	G	T			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:17292212G>T	ENST00000261381.6	-	5	1230	c.1146C>A	c.(1144-1146)cgC>cgA	p.R382R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	382					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGGGGTGACGCGGACATTGC	0.597																																																	0													81.0	63.0	69.0					16																	17292212		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1146C>A	16.37:g.17292212G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.R382	ENST00000261381.6	37	c.1146	CCDS10569.1	16																																																																																			XYLT1	-	pfam_Glyco_trans_14		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	G	NM_022166		17292212	-1	no_errors	ENST00000261381	ensembl	human	known	70_37	silent	SNP	0.002	T
ZNF423	23090	genome.wustl.edu	37	16	49671686	49671686	+	Silent	SNP	G	G	A	rs370346450		TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:49671686G>A	ENST00000561648.1	-	4	1430	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	ZNF423_ENST00000562871.1_Silent_p.H399H|ZNF423_ENST00000567169.1_Silent_p.H342H|ZNF423_ENST00000563137.2_Silent_p.H399H|ZNF423_ENST00000535559.1_Silent_p.H342H|ZNF423_ENST00000562520.1_Silent_p.H399H|ZNF423_ENST00000262383.2_Silent_p.H459H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	459					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTTGCGAACGTGCTCGTTGA	0.562																																																	0								G		0,4396		0,0,2198	145.0	124.0	131.0		1377	-1.4	1.0	16		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF423	NM_015069.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		459/1285	49671686	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1377C>T	16.37:g.49671686G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O94860|Q76N04|Q9NZ13	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H459	ENST00000561648.1	37	c.1377	CCDS32445.1	16																																																																																			ZNF423	-	smart_Znf_C2H2-like		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	G	NM_015069		49671686	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	silent	SNP	0.999	A
ZNF609	23060	genome.wustl.edu	37	15	64967417	64967417	+	Missense_Mutation	SNP	C	C	G			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr15:64967417C>G	ENST00000326648.3	+	4	2492	c.2364C>G	c.(2362-2364)atC>atG	p.I788M		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	788						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTAGCATCAAGGCTGAAG	0.542																																																	0													55.0	58.0	57.0					15																	64967417		2202	4293	6495	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2364C>G	15.37:g.64967417C>G	ENSP00000316527:p.Ile788Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.I788M	ENST00000326648.3	37	c.2364	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483274	0.26598	.	.	ENSG00000180357	ENST00000326648	T	0.61510	0.1	5.88	4.96	0.65561	.	0.043088	0.85682	D	0.000000	T	0.48150	0.1484	L	0.45581	1.43	0.58432	D	0.999991	P	0.41673	0.759	B	0.37692	0.256	T	0.49513	-0.8932	10	0.46703	T	0.11	-20.7069	9.8286	0.40928	0.1407:0.7904:0.0:0.0689	.	788	O15014	ZN609_HUMAN	M	788	ENSP00000316527:I788M	ENSP00000316527:I788M	I	+	3	3	ZNF609	62754470	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.499000	0.22546	1.466000	0.48025	0.655000	0.94253	ATC	ZNF609	-	NULL		0.542	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	C	XM_042833		64967417	+1	no_errors	ENST00000326648	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF688	146542	genome.wustl.edu	37	16	30581408	30581408	+	Silent	SNP	G	G	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr16:30581408G>A	ENST00000223459.6	-	3	1764	c.660C>T	c.(658-660)ttC>ttT	p.F220F	ZNF688_ENST00000395219.1_Silent_p.F206F|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	220					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)|large_intestine(2)|lung(2)|ovary(1)	8						ACTTCCTCTTGAAGCGCATGC	0.711																																																	0													14.0	17.0	16.0					16																	30581408		2189	4282	6471	SO:0001819	synonymous_variant	146542			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.660C>T	16.37:g.30581408G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F220	ENST00000223459.6	37	c.660	CCDS10684.1	16																																																																																			ZNF688	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.711	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	G	NM_145271		30581408	-1	no_errors	ENST00000223459	ensembl	human	known	70_37	silent	SNP	0.998	A
ZNF827	152485	genome.wustl.edu	37	4	146823874	146823874	+	Missense_Mutation	SNP	C	C	A			TCGA-MU-A5YI-01A-11D-A32I-09	TCGA-MU-A5YI-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb846086-f95a-42e7-b182-0841596aafe2	f75e2c1e-af33-4c30-8df4-57c297cb5e0e	g.chr4:146823874C>A	ENST00000508784.1	-	2	764	c.537G>T	c.(535-537)caG>caT	p.Q179H	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q179H			Q17R98	ZN827_HUMAN	zinc finger protein 827	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGGTCATTCTGTTCCTGCT	0.537																																																	0													92.0	83.0	86.0					4																	146823874		2203	4300	6503	SO:0001583	missense	152485			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.537G>T	4.37:g.146823874C>A	ENSP00000421863:p.Gln179His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q179H	ENST00000508784.1	37	c.537		4	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212626	0.22289	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.06933	3.24;3.27	5.77	4.91	0.64330	.	0.339213	0.34652	N	0.003793	T	0.04318	0.0119	N	0.08118	0	0.30073	N	0.809892	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.13764	-1.0497	10	0.41790	T	0.15	-14.141	6.9352	0.24463	0.0:0.5634:0.3318:0.1049	.	179;179	Q17R98;Q17R98-2	ZN827_HUMAN;.	H	179;179;178	ENSP00000421863:Q179H;ENSP00000368761:Q179H	ENSP00000281318:Q178H	Q	-	3	2	ZNF827	147043324	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	2.393000	0.44442	1.399000	0.46721	0.561000	0.74099	CAG	ZNF827	-	NULL		0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	C	NM_178835		146823874	-1	no_errors	ENST00000508784	ensembl	human	known	70_37	missense	SNP	1.000	A
