#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BGN	633	genome.wustl.edu	37	X	152770766	152770766	+	Silent	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chrX:152770766C>T	ENST00000331595.4	+	3	495	c.309C>T	c.(307-309)tcC>tcT	p.S103S	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	103					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGACATCTCCGAGCTCCGCA	0.612																																						dbGAP											0													88.0	73.0	78.0					X																	152770766		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.309C>T	X.37:g.152770766C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWU3|P13247	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.S103	ENST00000331595.4	37	c.309	CCDS14721.1	X																																																																																			BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000182492		0.612	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	43	0.00	0	C	NM_001711		152770766	152770766	+1	no_errors	ENST00000331595	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	0.000	T
CALCOCO1	57658	genome.wustl.edu	37	12	54110179	54110179	+	Silent	SNP	T	T	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr12:54110179T>C	ENST00000550804.1	-	8	930	c.870A>G	c.(868-870)caA>caG	p.Q290Q	CALCOCO1_ENST00000262059.4_Silent_p.Q290Q|CALCOCO1_ENST00000548263.1_Silent_p.Q290Q|CALCOCO1_ENST00000430117.2_Intron			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	290					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTTCTCCTGTTGTGCCACTT	0.542																																						dbGAP											0													84.0	70.0	74.0					12																	54110179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.870A>G	12.37:g.54110179T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	pfam_CoCoA	p.Q290	ENST00000550804.1	37	c.870	CCDS8864.1	12																																																																																			CALCOCO1	-	pfam_CoCoA	ENSG00000012822		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	76	0.00	0	T	NM_020898		54110179	54110179	-1	no_errors	ENST00000550804	ensembl	human	known	69_37n	silent	25	43.18	19	SNP	0.991	C
CBFB	865	genome.wustl.edu	37	16	67063695	67063695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr16:67063695delC	ENST00000290858.6	+	2	405	c.144delC	c.(142-144)tgcfs	p.C48fs	CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Frame_Shift_Del_p.C48fs	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	48					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGAACGCCTGCCGCGACGGCC	0.701			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													13.0	16.0	15.0					16																	67063695		2135	4218	6353	-	-	-	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.144delC	16.37:g.67063695delC	ENSP00000290858:p.Cys48fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Frame_Shift_Del	DEL	pfam_CBF_beta,superfamily_CBF_beta	p.R49fs	ENST00000290858.6	37	c.144	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.701	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	8	0.00	0	C	NM_001755		67063695	67063695	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	frame_shift_del	0	100.00	3	DEL	1.000	-
CELSR1	9620	genome.wustl.edu	37	22	46763749	46763749	+	Silent	SNP	G	G	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr22:46763749G>T	ENST00000262738.3	-	28	7955	c.7956C>A	c.(7954-7956)tcC>tcA	p.S2652S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2652					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCAGCAGGGAGCTGCGGG	0.657											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													35.0	33.0	34.0					22																	46763749		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7956C>A	22.37:g.46763749G>T		Somatic	941	WXS	Illumina GAIIx	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S2652	ENST00000262738.3	37	c.7956	CCDS14076.1	22																																																																																			CELSR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000075275		0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	21	0.00	0	G	NM_014246		46763749	46763749	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	silent	11	31.25	5	SNP	0.997	T
CIT	11113	genome.wustl.edu	37	12	120128239	120128239	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr12:120128239G>A	ENST00000261833.7	-	46	5829	c.5777C>T	c.(5776-5778)cCa>cTa	p.P1926L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.P1968L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1926					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTACGTGGGTGGGCCTCGCTT	0.662																																						dbGAP											0													23.0	20.0	21.0					12																	120128239		2199	4289	6488	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5777C>T	12.37:g.120128239G>A	ENSP00000261833:p.Pro1926Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.P1926L	ENST00000261833.7	37	c.5777	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.346532|5.346532	0.95807|0.95807	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.67345	.|-0.2;-0.26	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81113|0.81113	0.4755|0.4755	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.997;0.997;0.998	T|T	0.82051|0.82051	-0.0649|-0.0649	5|10	.|0.72032	.|D	.|0.01	.|.	19.5444|19.5444	0.95285|0.95285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1968;1926;1443	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	Y|L	1539|1968;1926	.|ENSP00000376306:P1968L;ENSP00000261833:P1926L	.|ENSP00000261833:P1926L	H|P	-|-	1|2	0|0	CIT|CIT	118612622|118612622	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.929000|0.929000	0.56500|0.56500	9.675000|9.675000	0.98638|0.98638	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CAC|CCA	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.662	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	20	0.00	0	G	NM_007174		120128239	120128239	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	A
CNKSR2	22866	genome.wustl.edu	37	X	21450902	21450902	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chrX:21450902C>A	ENST00000379510.3	+	3	437	c.401C>A	c.(400-402)gCa>gAa	p.A134E	CNKSR2_ENST00000279451.4_Missense_Mutation_p.A134E|CNKSR2_ENST00000425654.2_Missense_Mutation_p.A134E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.A134E	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	134	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTGATTGGAGCAGCCAAGAGT	0.438																																						dbGAP											0													113.0	110.0	111.0					X																	21450902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.401C>A	X.37:g.21450902C>A	ENSP00000368824:p.Ala134Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.A134E	ENST00000379510.3	37	c.401	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620287	0.66787	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.21361	2.35;2.08;2.01;2.3	5.22	4.35	0.52113	CRIC domain (1);CRIC domain, Chordata (1);	0.057139	0.64402	D	0.000001	T	0.30166	0.0756	L	0.39898	1.24	0.52099	D	0.999948	D;P;B	0.63046	0.992;0.845;0.114	P;P;B	0.61275	0.886;0.644;0.1	T	0.02031	-1.1226	10	0.15066	T	0.55	-23.5068	13.4366	0.61088	0.0:0.9208:0.0:0.0792	.	134;134;134	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	E	134	ENSP00000397906:A134E;ENSP00000444633:A134E;ENSP00000279451:A134E;ENSP00000368824:A134E	ENSP00000279451:A134E	A	+	2	0	CNKSR2	21360823	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.643000	0.67895	2.184000	0.69523	0.415000	0.27848	GCA	CNKSR2	-	pfam_CRIC_domain_Chordata	ENSG00000149970		0.438	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	97	0.00	0	C	NM_014927		21450902	21450902	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	1.000	A
COMMD7	149951	genome.wustl.edu	37	20	31315732	31315732	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr20:31315732C>T	ENST00000278980.6	-	3	814	c.209G>A	c.(208-210)aGc>aAc	p.S70N	COMMD7_ENST00000446419.2_Missense_Mutation_p.S69N	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	70					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						TTTCACGATGCTTCTGAGGGA	0.488																																						dbGAP											0													110.0	106.0	107.0					20																	31315732		1932	4155	6087	-	-	-	SO:0001583	missense	0			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.209G>A	20.37:g.31315732C>T	ENSP00000278980:p.Ser70Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	pfam_HCaRG	p.S70N	ENST00000278980.6	37	c.209	CCDS42864.1	20	.	.	.	.	.	.	.	.	.	.	C	2.287	-0.363356	0.05103	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.09723	2.95;2.95	5.04	4.03	0.46877	.	0.241935	0.49916	D	0.000124	T	0.03477	0.0100	N	0.02985	-0.445	0.33474	D	0.586551	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.33727	-0.9857	10	0.13108	T	0.6	.	5.7745	0.18271	0.0:0.8308:0.0:0.1692	.	69;70	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	N	70;69	ENSP00000278980:S70N;ENSP00000395339:S69N	ENSP00000278980:S70N	S	-	2	0	COMMD7	30779393	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	1.615000	0.36922	2.607000	0.88179	0.557000	0.71058	AGC	COMMD7	-	pfam_HCaRG	ENSG00000149600		0.488	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COMMD7	HGNC	protein_coding	OTTHUMT00000078648.2	112	0.00	0	C	NM_053041		31315732	31315732	-1	no_errors	ENST00000278980	ensembl	human	known	69_37n	missense	77	33.04	38	SNP	1.000	T
ELF4	2000	genome.wustl.edu	37	X	129203349	129203349	+	Silent	SNP	G	G	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chrX:129203349G>A	ENST00000308167.5	-	8	1492	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	ELF4_ENST00000335997.7_Silent_p.D371D	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGATCTCCTCGTCTAGCGACG	0.587			T	ERG	AML																																	dbGAP		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													154.0	143.0	147.0					X																	129203349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1113C>T	X.37:g.129203349G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.D371	ENST00000308167.5	37	c.1113	CCDS14617.1	X																																																																																			ELF4	-	NULL	ENSG00000102034		0.587	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	62	0.00	0	G	NM_001421		129203349	129203349	-1	no_errors	ENST00000308167	ensembl	human	known	69_37n	silent	24	27.27	9	SNP	0.000	A
FAM135B	51059	genome.wustl.edu	37	8	139164077	139164077	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr8:139164077T>A	ENST00000395297.1	-	13	2811	c.2641A>T	c.(2641-2643)Aaa>Taa	p.K881*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	881										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGTGGTATTTTTAAATTAAGA	0.473										HNSCC(54;0.14)																												dbGAP											0													105.0	97.0	100.0					8																	139164077		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2641A>T	8.37:g.139164077T>A	ENSP00000378710:p.Lys881*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.K881*	ENST00000395297.1	37	c.2641	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	T	38	7.029985	0.98013	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.33	-1.35	0.09114	.	0.996520	0.08143	N	0.991396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6295	10.1204	0.42616	0.0:0.4857:0.0:0.5143	.	.	.	.	X	881	.	ENSP00000276737:K881X	K	-	1	0	FAM135B	139233259	0.658000	0.27402	0.011000	0.14972	0.304000	0.27724	0.048000	0.14078	-0.181000	0.10619	-0.264000	0.10439	AAA	FAM135B	-	NULL	ENSG00000147724		0.473	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	77	0.00	0	T	NM_015912		139164077	139164077	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	nonsense	65	24.42	21	SNP	0.003	A
FLG	2312	genome.wustl.edu	37	1	152280087	152280087	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr1:152280087C>G	ENST00000368799.1	-	3	7310	c.7275G>C	c.(7273-7275)gaG>gaC	p.E2425D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2425	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGCGGACTCAGACTGTT	0.597									Ichthyosis																													dbGAP											0													239.0	226.0	230.0					1																	152280087		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7275G>C	1.37:g.152280087C>G	ENSP00000357789:p.Glu2425Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E2425D	ENST00000368799.1	37	c.7275	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794390	0.31777	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	4.55	-9.1	0.00714	.	.	.	.	.	T	0.00412	0.0013	L	0.53671	1.685	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.49303	-0.8954	9	0.16896	T	0.51	.	0.8966	0.01265	0.2377:0.2937:0.2559:0.2127	.	2425	P20930	FILA_HUMAN	D	2425	ENSP00000357789:E2425D	ENSP00000357789:E2425D	E	-	3	2	FLG	150546711	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-6.347000	0.00069	-2.803000	0.00351	0.556000	0.70494	GAG	FLG	-	NULL	ENSG00000143631		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	238	0.00	0	C	NM_002016		152280087	152280087	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	288	12.99	43	SNP	0.000	G
FOXJ3	22887	genome.wustl.edu	37	1	42657000	42657000	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr1:42657000G>C	ENST00000372572.1	-	11	1636	c.1325C>G	c.(1324-1326)cCc>cGc	p.P442R	FOXJ3_ENST00000372573.1_Missense_Mutation_p.P442R|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P442R|FOXJ3_ENST00000372571.1_5'Flank|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P442R|FOXJ3_ENST00000361776.1_Missense_Mutation_p.P408R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	442					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTTGTGGGGGTGGGGGTGC	0.488																																						dbGAP											0													189.0	168.0	175.0					1																	42657000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1325C>G	1.37:g.42657000G>C	ENSP00000361653:p.Pro442Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.P442R	ENST00000372572.1	37	c.1325	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347949	0.41599	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.04	5.04	0.67666	.	0.529708	0.17270	N	0.180426	T	0.23886	0.0578	N	0.08118	0	0.41149	D	0.986013	B;B	0.31859	0.343;0.232	B;B	0.32533	0.147;0.07	T	0.07986	-1.0744	10	0.07644	T	0.81	.	16.2306	0.82341	0.0:0.0:1.0:0.0	.	408;442	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	R	442;442;442;408;442	ENSP00000361654:P442R;ENSP00000361653:P442R;ENSP00000354620:P442R;ENSP00000354449:P408R;ENSP00000439044:P442R	ENSP00000354620:P442R	P	-	2	0	FOXJ3	42429587	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.259000	0.65485	2.505000	0.84491	0.561000	0.74099	CCC	FOXJ3	-	NULL	ENSG00000198815		0.488	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	276	0.00	0	G	NM_014947		42657000	42657000	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	missense	96	44.57	78	SNP	1.000	C
FMO3	2328	genome.wustl.edu	37	1	171086558	171086558	+	Silent	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr1:171086558C>T	ENST00000367755.4	+	9	1686	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	FMO3_ENST00000538429.1_Silent_p.I462I|FMO3_ENST00000542847.1_Silent_p.I505I|FMO3_ENST00000392085.2_Silent_p.I525I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	525					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTCTGTTAATCGCTGTTTTCC	0.403																																						dbGAP											0													157.0	143.0	148.0					1																	171086558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1575C>T	1.37:g.171086558C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R816|Q14854|Q8N5N5	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.I525	ENST00000367755.4	37	c.1575	CCDS1292.1	1																																																																																			FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	ENSG00000007933		0.403	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1	179	0.00	0	C	NM_006894		171086558	171086558	+1	no_errors	ENST00000367755	ensembl	human	known	69_37n	silent	203	10.57	24	SNP	0.960	T
GATA3	2625	genome.wustl.edu	37	10	8115719	8115720	+	Frame_Shift_Del	DEL	TA	TA	-	rs201916439		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr10:8115719_8115720delTA	ENST00000346208.3	+	6	1520_1521	c.1065_1066delTA	c.(1063-1068)actatgfs	p.M356fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.M357fs			P23771	GATA3_HUMAN	GATA binding protein 3	356					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GACCCCTGACTATGAAGAAGGA	0.401			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1065_1066delTA	10.37:g.8115719_8115720delTA	ENSP00000341619:p.Met356fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.M357fs	ENST00000346208.3	37	c.1068_1069	CCDS7083.1	10																																																																																			GATA3	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.401	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	32	0.00	0	TA	NM_001002295		8115719	8115720	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	15	31.82	7	DEL	0.993:1.000	-
GIP	2695	genome.wustl.edu	37	17	47038347	47038347	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr17:47038347G>A	ENST00000357424.2	-	5	453	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	118					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						CTTGGCTGGGGAGCTGCAAGG	0.567																																						dbGAP											0													48.0	42.0	44.0					17																	47038347		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11542.1	17q21.3-q22	2013-02-26			ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	4270	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	137240				2739653	Standard	NM_004123		Approved		uc002iol.1	P09681	OTTHUMG00000161171	ENST00000357424.2:c.353C>T	17.37:g.47038347G>A	ENSP00000350005:p.Ser118Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VB42|Q6NTD3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.S118F	ENST00000357424.2	37	c.353	CCDS11542.1	17	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186451	0.38609	.	.	ENSG00000159224	ENST00000357424	T	0.29142	1.58	4.46	2.47	0.30058	.	0.677789	0.13819	N	0.360535	T	0.19805	0.0476	L	0.32530	0.975	0.09310	N	1	P	0.37330	0.59	B	0.33196	0.159	T	0.09862	-1.0655	10	0.45353	T	0.12	-12.0866	6.9575	0.24580	0.2039:0.0:0.7961:0.0	.	118	P09681	GIP_HUMAN	F	118	ENSP00000350005:S118F	ENSP00000350005:S118F	S	-	2	0	GIP	44393346	0.089000	0.21612	0.039000	0.18376	0.053000	0.15095	1.567000	0.36407	0.810000	0.34279	-0.145000	0.13849	TCC	GIP	-	NULL	ENSG00000159224		0.567	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIP	HGNC	protein_coding	OTTHUMT00000364044.1	55	0.00	0	G	NM_004123		47038347	47038347	-1	no_errors	ENST00000357424	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	0.108	A
KAT8	84148	genome.wustl.edu	37	16	31138663	31138663	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr16:31138663C>G	ENST00000543774.2	+	6	1005	c.670C>G	c.(670-672)Cgc>Ggc	p.R224G	KAT8_ENST00000219797.4_Missense_Mutation_p.R224G|KAT8_ENST00000448516.2_Missense_Mutation_p.R224G			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	224	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GAAGAGCTACCGCTTCCACTT	0.622																																						dbGAP											0													64.0	67.0	66.0					16																	31138663		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.670C>G	16.37:g.31138663C>G	ENSP00000456933:p.Arg224Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.R224G	ENST00000543774.2	37	c.670	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993367	0.35131	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	5.8	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	L	0.45581	1.43	0.80722	D	1	P;P;P	0.51449	0.93;0.945;0.93	P;B;P	0.46275	0.51;0.326;0.51	T	0.58555	-0.7616	9	0.48119	T	0.1	-24.0671	13.8952	0.63766	0.0:0.9257:0.0:0.0743	.	224;224;224	Q9H7Z6-2;Q9H7Z6;G5E9P2	.;KAT8_HUMAN;.	G	224	.	ENSP00000219797:R224G	R	+	1	0	KAT8	31046164	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	3.029000	0.49712	1.477000	0.48234	-0.145000	0.13849	CGC	KAT8	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000103510		0.622	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	41	0.00	0	C	NM_032188		31138663	31138663	+1	no_errors	ENST00000448516	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	1.000	G
LCT	3938	genome.wustl.edu	37	2	136566446	136566446	+	Silent	SNP	G	G	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr2:136566446G>T	ENST00000264162.2	-	8	3481	c.3471C>A	c.(3469-3471)ccC>ccA	p.P1157P	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1157	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TTCTAAAAATGGGGTGAGCAA	0.562																																						dbGAP											0													82.0	79.0	80.0					2																	136566446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3471C>A	2.37:g.136566446G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P1157	ENST00000264162.2	37	c.3471	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	54	0.00	0	G	NM_002299		136566446	136566446	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	silent	32	15.79	6	SNP	0.993	T
LRFN5	145581	genome.wustl.edu	37	14	42360748	42360748	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr14:42360748C>T	ENST00000298119.4	+	4	2870	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	561						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TAATGGGCAACACAAGGTCAC	0.423										HNSCC(30;0.082)																												dbGAP											0													114.0	109.0	111.0					14																	42360748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1681C>T	14.37:g.42360748C>T	ENSP00000298119:p.His561Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H561Y	ENST00000298119.4	37	c.1681	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561232	0.45590	.	.	ENSG00000165379	ENST00000298119	T	0.47528	0.84	5.75	5.75	0.90469	.	0.321853	0.26578	N	0.023581	T	0.30510	0.0767	N	0.03608	-0.345	0.80722	D	1	P	0.35033	0.481	B	0.36030	0.216	T	0.36187	-0.9758	10	0.59425	D	0.04	.	17.4344	0.87547	0.0:1.0:0.0:0.0	.	561	Q96NI6	LRFN5_HUMAN	Y	561	ENSP00000298119:H561Y	ENSP00000298119:H561Y	H	+	1	0	LRFN5	41430498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.983000	0.49345	2.716000	0.92895	0.650000	0.86243	CAC	LRFN5	-	NULL	ENSG00000165379		0.423	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	64	0.00	0	C	NM_152447		42360748	42360748	+1	no_errors	ENST00000298119	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39797089	39797089	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr1:39797089A>G	ENST00000372915.3	+	36	4931	c.4844A>G	c.(4843-4845)cAg>cGg	p.Q1615R	MACF1_ENST00000564288.1_Missense_Mutation_p.Q1610R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q50R|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q1647R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1615					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGATGTACCAGCAGCTCCGG	0.507																																						dbGAP											0													75.0	82.0	79.0					1																	39797089		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4844A>G	1.37:g.39797089A>G	ENSP00000362006:p.Gln1615Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q1647R	ENST00000372915.3	37	c.4940		1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431396	0.43122	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.74106	-0.81;-0.81	5.96	4.8	0.61643	.	0.329961	0.26176	N	0.025890	T	0.60090	0.2242	L	0.49640	1.575	0.80722	D	1	P	0.38922	0.651	B	0.30401	0.115	T	0.57441	-0.7811	10	0.12430	T	0.62	.	9.1089	0.36714	0.7488:0.1285:0.0:0.1228	.	1615	Q9UPN3	MACF1_HUMAN	R	1615;50	ENSP00000362006:Q1615R;ENSP00000289893:Q50R	ENSP00000289893:Q50R	Q	+	2	0	MACF1	39569676	0.325000	0.24660	0.997000	0.53966	0.948000	0.59901	2.633000	0.46519	2.284000	0.76573	0.528000	0.53228	CAG	MACF1	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom	ENSG00000127603		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	40	0.00	0	A	NM_033044		39797089	39797089	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	missense	10	28.57	4	SNP	0.982	G
MDC1	9656	genome.wustl.edu	37	6	30671982	30671982	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr6:30671982G>A	ENST00000376406.3	-	10	5625	c.4978C>T	c.(4978-4980)Ctt>Ttt	p.L1660F	MDC1_ENST00000376405.2_Missense_Mutation_p.L1396F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1660					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						AAAGGCTCAAGATCAGAGGCT	0.542								Other conserved DNA damage response genes																														dbGAP											0													108.0	112.0	110.0					6																	30671982		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.4978C>T	6.37:g.30671982G>A	ENSP00000365588:p.Leu1660Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.L1660F	ENST00000376406.3	37	c.4978	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	5.847	0.340532	0.11069	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.11604	2.76;2.76	3.67	1.8	0.24995	.	0.603914	0.12647	N	0.450752	T	0.04003	0.0112	M	0.70275	2.135	0.09310	N	1	P;B	0.36010	0.532;0.245	B;B	0.38056	0.264;0.077	T	0.41520	-0.9504	10	0.13470	T	0.59	-2.9996	5.6826	0.17784	0.2607:0.0:0.7393:0.0	.	1396;1660	Q14676-2;Q14676	.;MDC1_HUMAN	F	1660;1396;1373;1226	ENSP00000365588:L1660F;ENSP00000365587:L1396F	ENSP00000365587:L1396F	L	-	1	0	MDC1	30779961	0.009000	0.17119	0.001000	0.08648	0.450000	0.32258	1.583000	0.36579	0.488000	0.27723	0.449000	0.29647	CTT	MDC1	-	NULL	ENSG00000137337		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	102	0.00	0	G	NM_014641		30671982	30671982	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	36	56.10	46	SNP	0.001	A
MED22	6837	genome.wustl.edu	37	9	136211091	136211091	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr9:136211091C>T	ENST00000491289.1	-	4	883	c.302G>A	c.(301-303)cGc>cAc	p.R101H	MED22_ENST00000476080.1_Missense_Mutation_p.R101H|MED22_ENST00000371999.1_Missense_Mutation_p.R95H|MED22_ENST00000343730.5_Missense_Mutation_p.R101H|MED22_ENST00000344469.5_Missense_Mutation_p.R101H|MED22_ENST00000471524.1_5'UTR			Q15528	MED22_HUMAN	mediator complex subunit 22	101						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CTGCTGGTTGCGCTGGTCAAT	0.597																																						dbGAP											0													130.0	106.0	114.0					9																	136211091		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.302G>A	9.37:g.136211091C>T	ENSP00000420393:p.Arg101His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	NULL	p.R101H	ENST00000491289.1	37	c.302	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262249	0.80358	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	5.08	5.08	0.68730	.	0.105674	0.64402	D	0.000003	T	0.74831	0.3768	M	0.65975	2.015	0.54753	D	0.999983	D;D	0.61080	0.989;0.984	P;P	0.58266	0.681;0.836	T	0.78288	-0.2262	9	0.72032	D	0.01	-29.7671	17.4741	0.87655	0.0:1.0:0.0:0.0	.	101;101	Q15528-2;Q15528	.;MED22_HUMAN	H	101;101;101;101;101;95;101;101;101	.	ENSP00000342343:R101H	R	-	2	0	MED22	135200912	1.000000	0.71417	0.991000	0.47740	0.521000	0.34408	3.559000	0.53756	2.362000	0.80069	0.655000	0.94253	CGC	MED22	-	NULL	ENSG00000148297		0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	47	0.00	0	C	NM_133640		136211091	136211091	-1	no_errors	ENST00000343730	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.997	T
MUC12	10071	genome.wustl.edu	37	7	100647276	100647276	+	Missense_Mutation	SNP	C	C	A	rs202226352	byFrequency	TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr7:100647276C>A	ENST00000379442.3	+	5	13861	c.13861C>A	c.(13861-13863)Cct>Act	p.P4621T	MUC12_ENST00000536621.1_Missense_Mutation_p.P4478T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4621	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACACACTTCCCTGACAGCTC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13861C>A	7.37:g.100647276C>A	ENSP00000368755:p.Pro4621Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P4621T	ENST00000379442.3	37	c.13861		7	.	.	.	.	.	.	.	.	.	.	C	0.646	-0.811242	0.02798	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14893	2.48;2.47	0.917	-0.282	0.12878	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.35871	-0.9771	6	0.25751	T	0.34	.	1.6623	0.02794	0.3368:0.4106:0.0:0.2526	.	.	.	.	T	4621;4478	ENSP00000368755:P4621T;ENSP00000441929:P4478T	ENSP00000368755:P4621T	P	+	1	0	MUC12	100433996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.639000	0.05446	-0.109000	0.12044	0.430000	0.28490	CCT	MUC12	-	NULL	ENSG00000205277		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	58	0.00	0	C	XM_379904		100647276	100647276	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	9	25.00	3	SNP	0.001	A
NOL11	25926	genome.wustl.edu	37	17	65714064	65714064	+	Start_Codon_SNP	SNP	A	A	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr17:65714064A>C	ENST00000253247.4	+	1	116	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	1					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTGCTCAAAATGGCAGCGCT	0.597											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													43.0	40.0	41.0					17																	65714064		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1A>C	17.37:g.65714064A>C	ENSP00000253247:p.Met1Leu	Somatic	1086	WXS	Illumina GAIIx	Phase_IV	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	pfam_NUC205	p.M1L	ENST00000253247.4	37	c.1	CCDS11671.1	17	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048433	0.36181	.	.	ENSG00000130935	ENST00000253247	T	0.59638	0.25	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	.	.	.	0.80722	D	1	D	0.53462	0.96	D	0.64321	0.924	T	0.76366	-0.2985	9	0.87932	D	0	-30.4213	12.4346	0.55593	1.0:0.0:0.0:0.0	.	1	Q9H8H0	NOL11_HUMAN	L	1	ENSP00000253247:M1L	ENSP00000253247:M1L	M	+	1	0	NOL11	63144526	1.000000	0.71417	0.996000	0.52242	0.442000	0.32017	6.264000	0.72527	2.193000	0.70182	0.459000	0.35465	ATG	NOL11	-	NULL	ENSG00000130935		0.597	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	24	0.00	0	A	NM_015462	Missense_Mutation	65714064	65714064	+1	no_errors	ENST00000253247	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	C
NUTF2	10204	genome.wustl.edu	37	16	67902251	67902251	+	Silent	SNP	G	G	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr16:67902251G>A	ENST00000219169.4	+	3	391	c.108G>A	c.(106-108)gcG>gcA	p.A36A	NUTF2_ENST00000569436.2_Silent_p.A36A|NUTF2_ENST00000568396.2_Silent_p.A36A	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	36	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		AGATTGACGCGTCATGCCTTA	0.527																																						dbGAP											0													106.0	105.0	105.0					16																	67902251		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.108G>A	16.37:g.67902251G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4G7|P13662|Q6IB67	Silent	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.A36	ENST00000219169.4	37	c.108	CCDS10848.1	16																																																																																			NUTF2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000102898		0.527	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTF2	HGNC	protein_coding	OTTHUMT00000268871.1	88	0.00	0	G			67902251	67902251	+1	no_errors	ENST00000219169	ensembl	human	known	69_37n	silent	9	85.94	55	SNP	0.964	A
OPLAH	26873	genome.wustl.edu	37	8	145108232	145108232	+	Silent	SNP	G	G	A	rs372985158		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr8:145108232G>A	ENST00000426825.1	-	20	2832	c.2751C>T	c.(2749-2751)caC>caT	p.H917H	CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	917					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGTTGTCGTGCAGGTTTC	0.657																																						dbGAP											0													55.0	63.0	60.0					8																	145108232		2094	4223	6317	-	-	-	SO:0001819	synonymous_variant	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2751C>T	8.37:g.145108232G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8																																																																																			OPLAH	-	-	ENSG00000178814		0.657	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		28	0.00	0	G	NM_017570		145108232	145108232	-1	no_errors	ENST00000426825	ensembl	human	known	69_37n	rna	23	41.03	16	SNP	0.960	A
OR10H5	284433	genome.wustl.edu	37	19	15904918	15904918	+	Silent	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr19:15904918C>T	ENST00000308940.8	+	1	158	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCTCTGCCTTCCCCCACCTCC	0.582																																						dbGAP											0													248.0	207.0	221.0					19																	15904918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.60C>T	19.37:g.15904918C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ0|Q96R60	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F20	ENST00000308940.8	37	c.60	CCDS32940.1	19																																																																																			OR10H5	-	NULL	ENSG00000172519		0.582	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	192	0.00	0	C			15904918	15904918	+1	no_errors	ENST00000308940	ensembl	human	known	69_37n	silent	56	31.71	26	SNP	0.994	T
OR2T2	401992	genome.wustl.edu	37	1	248616764	248616764	+	Silent	SNP	C	C	T	rs376553658		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																						dbGAP											0													182.0	125.0	144.0					1																	248616764		2186	4264	6450	-	-	-	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM1|B9EH01	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I222	ENST00000342927.3	37	c.666	CCDS31116.1	1																																																																																			OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	70	0.00	0	C	NM_001004136		248616764	248616764	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	silent	32	17.95	7	SNP	0.001	T
OR51E1	143503	genome.wustl.edu	37	11	4674561	4674561	+	Missense_Mutation	SNP	C	C	T	rs201979094		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr11:4674561C>T	ENST00000396952.5	+	2	1455	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	OR51E1_ENST00000530215.1_Silent_p.S45S	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTAGCAAGCGGCGTGACTC	0.498																																						dbGAP											0													200.0	187.0	191.0					11																	4674561		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.805C>T	11.37:g.4674561C>T	ENSP00000380155:p.Arg269Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R269W	ENST00000396952.5	37	c.805	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123572	0.37436	.	.	ENSG00000180785	ENST00000396952	T	0.72167	-0.63	4.77	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	1.034790	0.07694	N	0.939215	T	0.64918	0.2642	L	0.43646	1.37	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.57081	-0.7872	10	0.54805	T	0.06	.	12.6121	0.56556	0.5392:0.4608:0.0:0.0	.	268	Q8TCB6	O51E1_HUMAN	W	269	ENSP00000380155:R269W	ENSP00000380155:R269W	R	+	1	2	OR51E1	4631137	0.000000	0.05858	0.165000	0.22776	0.808000	0.45660	-0.039000	0.12124	0.672000	0.31204	0.655000	0.94253	CGG	OR51E1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180785		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	113	0.00	0	C	NM_152430		4674561	4674561	+1	no_errors	ENST00000396952	ensembl	human	known	69_37n	missense	40	51.81	43	SNP	0.000	T
OR5L2	26338	genome.wustl.edu	37	11	55595368	55595368	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr11:55595368T>A	ENST00000378397.1	+	1	674	c.674T>A	c.(673-675)aTc>aAc	p.I225N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTCACCACTATCCTGAAGATA	0.488										HNSCC(27;0.073)																												dbGAP											0													195.0	162.0	173.0					11																	55595368		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.674T>A	11.37:g.55595368T>A	ENSP00000367650:p.Ile225Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I225N	ENST00000378397.1	37	c.674	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	12.45	1.940190	0.34283	.	.	ENSG00000205030	ENST00000378397	T	0.00279	8.33	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	T	0.00936	0.0031	M	0.92923	3.36	0.30659	N	0.754649	D	0.89917	1.0	D	0.79108	0.992	T	0.03818	-1.1001	10	0.87932	D	0	-53.0029	14.3209	0.66487	0.0:0.0:0.0:1.0	.	225	Q8NGL0	OR5L2_HUMAN	N	225	ENSP00000367650:I225N	ENSP00000367650:I225N	I	+	2	0	OR5L2	55351944	0.017000	0.18338	1.000000	0.80357	0.067000	0.16453	2.008000	0.40893	2.115000	0.64714	0.514000	0.50259	ATC	OR5L2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205030		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	100	0.00	0	T	NM_001004739		55595368	55595368	+1	no_errors	ENST00000378397	ensembl	human	known	69_37n	missense	65	33.66	34	SNP	0.988	A
PHC3	80012	genome.wustl.edu	37	3	169889120	169889120	+	Intron	SNP	T	T	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr3:169889120T>C	ENST00000494943.1	-	4	447				PHC3_ENST00000474275.1_Intron|PHC3_ENST00000495893.2_Intron|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000481639.1_Silent_p.*148*|PHC3_ENST00000497658.1_Silent_p.*152*			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AACAATTCTTTAAAATTTTAA	0.323																																						dbGAP											0													14.0	14.0	14.0					3																	169889120		1774	4051	5825	-	-	-	SO:0001627	intron_variant	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.378+40A>G	3.37:g.169889120T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	NULL	p.*152	ENST00000494943.1	37	c.455		3																																																																																			PHC3	-	NULL	ENSG00000173889		0.323	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	16	0.00	0	T	NM_024947		169889120	169889120	-1	no_errors	ENST00000497658	ensembl	human	known	69_37n	silent	14	26.32	5	SNP	0.119	C
PRKCD	5580	genome.wustl.edu	37	3	53223073	53223073	+	Splice_Site	SNP	G	G	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr3:53223073G>C	ENST00000394729.2	+	16	1882		c.e16-1		PRKCD_ENST00000330452.3_Splice_Site	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CCCACCGCCAGATCCTACAGG	0.617																																						dbGAP											0													66.0	73.0	70.0					3																	53223073		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1555-1G>C	3.37:g.53223073G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0KZ81|B2R834|Q15144|Q86XJ6	Splice_Site	SNP	-	e15-1	ENST00000394729.2	37	c.1555-1	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300049	0.60195	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.27	0.90065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKCD	53198113	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	9.653000	0.98506	2.848000	0.98002	0.655000	0.94253	.	PRKCD	-	-	ENSG00000163932		0.617	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	87	0.00	0	G		Intron	53223073	53223073	+1	no_errors	ENST00000330452	ensembl	human	known	69_37n	splice_site	5	93.59	73	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	57	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	6	88.68	47	SNP	1.000	G
PTGR2	145482	genome.wustl.edu	37	14	74340785	74340785	+	Silent	SNP	A	A	G			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr14:74340785A>G	ENST00000555661.1	+	4	361	c.216A>G	c.(214-216)caA>caG	p.Q72Q	PTGR2_ENST00000553813.1_5'UTR|RP5-1021I20.4_ENST00000556551.2_Silent_p.Q72Q|PTGR2_ENST00000555228.1_Silent_p.Q72Q|PTGR2_ENST00000267568.4_Silent_p.Q72Q			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	72					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	AGCTATCTCAAGTCGTTGATG	0.358																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	dbGAP											0													104.0	104.0	104.0					14																	74340785		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.216A>G	14.37:g.74340785A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L8A4|Q6MZH8	Silent	SNP	pfam_ADH_C,superfamily_GroES-like	p.Q72	ENST00000555661.1	37	c.216	CCDS9820.1	14																																																																																			PTGR2	-	superfamily_GroES-like	ENSG00000140043		0.358	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR2	HGNC	protein_coding	OTTHUMT00000412575.1	112	0.00	0	A			74340785	74340785	+1	no_errors	ENST00000267568	ensembl	human	known	69_37n	silent	37	59.34	54	SNP	1.000	G
RB1	5925	genome.wustl.edu	37	13	48953760	48953760	+	Nonsense_Mutation	SNP	C	C	T	rs121913302		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr13:48953760C>T	ENST00000267163.4	+	14	1501	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	455	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R455*(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTGTATTACCGAGTAATGGA	0.358		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	30	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(7)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|skin(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM961228	RB1	M	rs121913302						22.0	22.0	22.0					13																	48953760		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1363C>T	13.37:g.48953760C>T	ENSP00000267163:p.Arg455*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.R455*	ENST00000267163.4	37	c.1363	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.414248	0.98269	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.81	0.61882	.	0.058073	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4293	0.61044	0.2356:0.7644:0.0:0.0	.	.	.	.	X	434;455	.	ENSP00000267163:R455X	R	+	1	2	RB1	47851761	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.765000	0.62271	2.707000	0.92482	0.557000	0.71058	CGA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.358	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	25	0.00	0	C			48953760	48953760	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	nonsense	1	90.00	9	SNP	1.000	T
SLC22A17	51310	genome.wustl.edu	37	14	23818534	23818534	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr14:23818534C>A	ENST00000206544.8	-	3	809	c.473G>T	c.(472-474)cGa>cTa	p.R158L	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Missense_Mutation_p.R47L|SLC22A17_ENST00000354772.3_Missense_Mutation_p.R158L|SLC22A17_ENST00000397267.1_Missense_Mutation_p.R158L	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	158					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAAGAGGAATCGGAGGGCCAT	0.622																																						dbGAP											0													59.0	53.0	55.0					14																	23818534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.473G>T	14.37:g.23818534C>A	ENSP00000206544:p.Arg158Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R158L	ENST00000206544.8	37	c.473	CCDS9593.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052092	0.75960	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.61	4.61	0.57282	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	D	0.95262	0.8463	M	0.86420	2.815	0.53688	D	0.999972	P;D;P	0.89917	0.946;1.0;0.657	P;D;P	0.91635	0.73;0.999;0.496	D	0.95484	0.8563	10	0.87932	D	0	-4.4377	11.5751	0.50856	0.1788:0.8212:0.0:0.0	.	158;158;158	Q8WUG5-3;Q8WUG5-2;Q8WUG5	.;.;S22AH_HUMAN	L	158;47;158;158	ENSP00000346824:R158L;ENSP00000380430:R47L;ENSP00000206544:R158L;ENSP00000380437:R158L	ENSP00000206544:R158L	R	-	2	0	SLC22A17	22888374	0.999000	0.42202	0.998000	0.56505	0.799000	0.45148	5.071000	0.64382	2.397000	0.81536	0.462000	0.41574	CGA	SLC22A17	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000092096		0.622	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	HGNC	protein_coding	OTTHUMT00000157223.3	26	0.00	0	C	NM_020372		23818534	23818534	-1	no_errors	ENST00000206544	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.997	A
SLC40A1	30061	genome.wustl.edu	37	2	190437615	190437615	+	Nonsense_Mutation	SNP	A	A	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr2:190437615A>C	ENST00000261024.2	-	4	770	c.344T>G	c.(343-345)tTa>tGa	p.L115*	SLC40A1_ENST00000418714.1_5'Flank	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	115					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ATGTTTATGTAAGAAAACCAT	0.433																																						dbGAP											0													105.0	99.0	101.0					2																	190437615		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.344T>G	2.37:g.190437615A>C	ENSP00000261024:p.Leu115*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Nonsense_Mutation	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.L115*	ENST00000261024.2	37	c.344	CCDS2299.1	2	.	.	.	.	.	.	.	.	.	.	A	40	8.178466	0.98691	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	.	.	.	6.03	6.03	0.97812	.	0.209202	0.39615	N	0.001315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-3.1496	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000261024:L115X	L	-	2	0	SLC40A1	190145860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.757000	0.62213	2.308000	0.77769	0.533000	0.62120	TTA	SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	ENSG00000138449		0.433	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	32	0.00	0	A			190437615	190437615	-1	no_errors	ENST00000261024	ensembl	human	known	69_37n	nonsense	11	42.11	8	SNP	1.000	C
SLCO1B3	28234	genome.wustl.edu	37	12	21028243	21028243	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr12:21028243T>C	ENST00000381545.3	+	9	1021	c.802T>C	c.(802-804)Ttt>Ctt	p.F268L	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F268L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F268L|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.F268L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	268					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GTCTGGACTATTTTCCATTAT	0.373																																						dbGAP											0													193.0	188.0	190.0					12																	21028243		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.802T>C	12.37:g.21028243T>C	ENSP00000370956:p.Phe268Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F268L	ENST00000381545.3	37	c.802	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.420546	0.01136	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.78595	0.55;0.55;0.55;0.55;-1.19;0.55	3.92	-7.83	0.01201	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.262910	0.05904	N	0.630535	T	0.34687	0.0906	N	0.00771	-1.2	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.39354	-0.9618	10	0.06365	T	0.9	.	1.4584	0.02390	0.3679:0.3116:0.103:0.2175	.	268;268;268	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	L	268;268;268;268;92;268	ENSP00000442000:F268L;ENSP00000261196:F268L;ENSP00000370956:F268L;ENSP00000451758:F268L;ENSP00000443225:F92L;ENSP00000441269:F268L	ENSP00000441269:F268L	F	+	1	0	SLCO1B3;RP11-545J16.1	20919510	0.000000	0.05858	0.000000	0.03702	0.628000	0.37860	-1.776000	0.01781	-1.741000	0.01344	-0.465000	0.05216	TTT	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.373	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	233	0.00	0	T	NM_019844		21028243	21028243	+1	no_errors	ENST00000553473	ensembl	human	known	69_37n	missense	134	42.74	100	SNP	0.000	C
TBCD	6904	genome.wustl.edu	37	17	80730364	80730364	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr17:80730364G>T	ENST00000355528.4	+	6	749	c.619G>T	c.(619-621)Gct>Tct	p.A207S	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.A207S	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	207					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCGAGATGCAGCTGCTGTCCT	0.537																																						dbGAP											0													351.0	359.0	356.0					17																	80730364		2164	4263	6427	-	-	-	SO:0001583	missense	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.619G>T	17.37:g.80730364G>T	ENSP00000347719:p.Ala207Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.A207S	ENST00000355528.4	37	c.619	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355303	0.41700	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.76709	-1.04	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.80649	0.4663	M	0.64260	1.97	0.80722	D	1	P;P;P	0.44281	0.54;0.669;0.831	B;B;P	0.47864	0.197;0.36;0.559	T	0.80034	-0.1551	8	.	.	.	.	16.5449	0.84443	0.0:0.0:1.0:0.0	.	207;207;207	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	S	207;190;207	ENSP00000347719:A207S	.	A	+	1	0	TBCD	78323653	1.000000	0.71417	0.985000	0.45067	0.032000	0.12392	7.627000	0.83176	2.519000	0.84933	0.460000	0.39030	GCT	TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.537	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	160	0.00	0	G	NM_005993		80730364	80730364	+1	no_errors	ENST00000355528	ensembl	human	known	69_37n	missense	33	63.33	57	SNP	0.999	T
THBS1	7057	genome.wustl.edu	37	15	39886561	39886561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr15:39886561delC	ENST00000260356.5	+	21	3590	c.3425delC	c.(3424-3426)accfs	p.T1142fs	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1142	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TATGATAAAACCTATGCTGGT	0.403																																						dbGAP											0													144.0	137.0	140.0					15																	39886561		2200	4297	6497	-	-	-	SO:0001589	frameshift_variant	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3425delC	15.37:g.39886561delC	ENSP00000260356:p.Thr1142fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Frame_Shift_Del	DEL	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.Y1143fs	ENST00000260356.5	37	c.3425	CCDS32194.1	15																																																																																			THBS1	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl	ENSG00000137801		0.403	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	86	0.00	0	C	NM_003246		39886561	39886561	+1	no_errors	ENST00000260356	ensembl	human	known	69_37n	frame_shift_del	30	18.92	7	DEL	1.000	-
TLR3	7098	genome.wustl.edu	37	4	187004668	187004668	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr4:187004668G>C	ENST00000296795.3	+	4	1932	c.1828G>C	c.(1828-1830)Gtg>Ctg	p.V610L	TLR3_ENST00000504367.1_Missense_Mutation_p.V333L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	610					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TAATAATCAGGTGTCTCTAAA	0.383																																						dbGAP											0													72.0	74.0	73.0					4																	187004668		2203	4299	6502	-	-	-	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1828G>C	4.37:g.187004668G>C	ENSP00000296795:p.Val610Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.V610L	ENST00000296795.3	37	c.1828	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	G	4.282	0.051427	0.08291	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.58652	0.32;0.32	5.88	-2.35	0.06684	.	1.413560	0.03843	N	0.271029	T	0.37404	0.1002	N	0.17631	0.505	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09465	-1.0673	10	0.28530	T	0.3	.	3.4534	0.07506	0.2395:0.3709:0.2935:0.0961	.	610	O15455	TLR3_HUMAN	L	610;610;333	ENSP00000296795:V610L;ENSP00000423684:V333L	ENSP00000296795:V610L	V	+	1	0	TLR3	187241662	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	0.009000	0.13219	-0.392000	0.07751	0.557000	0.71058	GTG	TLR3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000164342		0.383	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	42	0.00	0	G			187004668	187004668	+1	no_errors	ENST00000296795	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	0.002	C
TLR5	7100	genome.wustl.edu	37	1	223285350	223285350	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr1:223285350T>G	ENST00000540964.1	-	4	1485	c.1024A>C	c.(1024-1026)Aat>Cat	p.N342H	TLR5_ENST00000342210.6_Missense_Mutation_p.N342H			O60602	TLR5_HUMAN	toll-like receptor 5	342					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TATGACAAATTGAGAACTTGG	0.373																																						dbGAP											0													100.0	100.0	100.0					1																	223285350		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1024A>C	1.37:g.223285350T>G	ENSP00000440643:p.Asn342His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.N342H	ENST00000540964.1	37	c.1024	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365563	0.61513	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.60797	0.16;0.16;0.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	L	0.45744	1.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.73701	-0.3900	10	0.87932	D	0	.	15.5222	0.75874	0.0:0.0:0.0:1.0	.	342	O60602	TLR5_HUMAN	H	342	ENSP00000440643:N342H;ENSP00000355846:N342H;ENSP00000340089:N342H	ENSP00000340089:N342H	N	-	1	0	TLR5	221351973	1.000000	0.71417	0.997000	0.53966	0.776000	0.43924	5.699000	0.68310	2.059000	0.61396	0.533000	0.62120	AAT	TLR5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000187554		0.373	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		45	0.00	0	T	NM_003268		223285350	223285350	-1	no_errors	ENST00000342210	ensembl	human	known	69_37n	missense	87	13.00	13	SNP	1.000	G
TNRC18	84629	genome.wustl.edu	37	7	5352635	5352635	+	Silent	SNP	T	T	G			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr7:5352635T>G	ENST00000430969.1	-	27	8235	c.7887A>C	c.(7885-7887)tcA>tcC	p.S2629S	TNRC18_ENST00000399537.4_Silent_p.S2629S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2629	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aagaggaggatgaggaggagg	0.642																																						dbGAP											0													5.0	8.0	7.0					7																	5352635		1423	3213	4636	-	-	-	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7887A>C	7.37:g.5352635T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S2629	ENST00000430969.1	37	c.7887	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	N	0.020	-1.445364	0.01089	.	.	ENSG00000182095	ENST00000399544	.	.	.	3.4	-6.8	0.01709	.	1.000120	0.08080	N	1.000000	T	0.52853	0.1760	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60979	-0.7155	6	0.87932	D	0	.	3.168	0.06542	0.3128:0.3903:0.1985:0.0984	.	.	.	.	P	1142	.	ENSP00000382459:H1142P	H	-	2	0	TNRC18	5319161	0.989000	0.36119	0.000000	0.03702	0.001000	0.01503	-1.429000	0.02437	-4.431000	0.00049	-3.452000	0.00036	CAT	TNRC18	-	NULL	ENSG00000182095		0.642	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		8	0.00	0	T			5352635	5352635	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	silent	2	62.50	5	SNP	0.749	G
TRPC7	57113	genome.wustl.edu	37	5	135651308	135651308	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr5:135651308C>T	ENST00000513104.1	-	3	1222	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	314					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATTTAATGGCGAGTTTGATC	0.512																																						dbGAP											0													83.0	87.0	86.0					5																	135651308		1954	4151	6105	-	-	-	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.940G>A	5.37:g.135651308C>T	ENSP00000426070:p.Ala314Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.A314T	ENST00000513104.1	37	c.940	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.707612|5.707612	0.96821|0.96821	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000513104;ENST00000265193|ENST00000502753	T|.	0.73258|.	-0.73|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.052957|.	0.85682|.	D|.	0.000000|.	D|D	0.87301|0.87301	0.6143|0.6143	M|M	0.93638|0.93638	3.44|3.44	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.996;0.935|.	D|D	0.89468|0.89468	0.3741|0.3741	10|5	0.87932|.	D|.	0|.	-18.3368|-18.3368	19.8946|19.8946	0.96949|0.96949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	314;314|.	Q70T25;Q9HCX4|.	.;TRPC7_HUMAN|.	T|H	314|313	ENSP00000426070:A314T|.	ENSP00000265193:A314T|.	A|R	-|-	1|2	0|0	TRPC7|TRPC7	135679207|135679207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.651000|7.651000	0.83577|0.83577	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCC|CGC	TRPC7	-	tigrfam_TRP_channel	ENSG00000069018		0.512	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	89	0.00	0	C	NM_020389		135651308	135651308	-1	no_errors	ENST00000513104	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179458370	179458370	+	Missense_Mutation	SNP	G	G	A	rs372959465		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr2:179458370G>A	ENST00000591111.1	-	248	53958	c.53734C>T	c.(53734-53736)Cgg>Tgg	p.R17912W	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R16985W|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10488W|TTN_ENST00000342175.6_Missense_Mutation_p.R10680W|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10613W|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19553W			Q8WZ42	TITIN_HUMAN	titin	17912	Fibronectin type-III 29. {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)			GCATGTATCCGGAAAATATAA	0.373																																						dbGAP											0													80.0	75.0	77.0					2																	179458370		1846	4086	5932	-	-	-	SO:0001583	missense	0			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.53734C>T	2.37:g.179458370G>A	ENSP00000465570:p.Arg17912Trp	Somatic		WXS	Illumina GAIIx	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.R16985W	ENST00000591111.1	37	c.50953		2	.	.	.	.	.	.	.	.	.	.	G	9.186	1.024832	0.19433	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.02	5.12	0.69794	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84502	0.5486	H	0.98407	4.225	0.50813	D	0.999897	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	D	0.90597	0.4541	9	0.87932	D	0	.	14.8728	0.70471	0.0:0.0:0.7389:0.2611	.	10488;10613;10680;17912	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	16985;10488;10680;10613;10486	ENSP00000343764:R16985W;ENSP00000434586:R10488W;ENSP00000340554:R10680W;ENSP00000352154:R10613W	ENSP00000340554:R10680W	R	-	1	2	TTN	179166616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.645000	0.37238	1.503000	0.48686	0.650000	0.86243	CGG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	73	0.00	0	G	NM_133378		179458370	179458370	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	32	36.00	18	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179536934	179536934	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr2:179536934T>C	ENST00000591111.1	-	151	34093	c.33869A>G	c.(33868-33870)gAa>gGa	p.E11290G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10363G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11664G|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11290	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ttctagtctttcttttactac	0.353																																						dbGAP											0													29.0	25.0	26.0					2																	179536934		1765	3962	5727	-	-	-	SO:0001583	missense	0			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.33869A>G	2.37:g.179536934T>C	ENSP00000465570:p.Glu11290Gly	Somatic		WXS	Illumina GAIIx	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.E10363G	ENST00000591111.1	37	c.31088		2	.	.	.	.	.	.	.	.	.	.	T	8.334	0.827212	0.16749	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.66	3.24	0.37175	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51109	0.1655	N	0.22421	0.69	0.09310	N	0.999999	B	0.11235	0.004	B	0.12156	0.007	T	0.46541	-0.9184	9	0.87932	D	0	.	7.7562	0.28925	0.1245:0.0684:0.0:0.8071	.	11290	Q8WZ42	TITIN_HUMAN	G	10363	ENSP00000343764:E10363G	ENSP00000343764:E10363G	E	-	2	0	TTN	179245179	0.000000	0.05858	0.035000	0.18076	0.121000	0.20230	0.206000	0.17375	0.482000	0.27582	-0.336000	0.08194	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	50	0.00	0	T	NM_133378		179536934	179536934	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.004	C
XPO7	23039	genome.wustl.edu	37	8	21837630	21837630	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr8:21837630A>T	ENST00000252512.9	+	9	973	c.873A>T	c.(871-873)agA>agT	p.R291S	XPO7_ENST00000434536.1_Missense_Mutation_p.R300S|XPO7_ENST00000433566.4_Missense_Mutation_p.R292S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	291				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTTCAGTCAGAAGATCCCTGT	0.413																																						dbGAP											0													121.0	113.0	115.0					8																	21837630		1913	4125	6038	-	-	-	SO:0001583	missense	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.873A>T	8.37:g.21837630A>T	ENSP00000252512:p.Arg291Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R300S	ENST00000252512.9	37	c.900	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261728	0.80358	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.51325	0.71;0.71;0.71	5.33	1.6	0.23607	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.63047	-0.6724	10	0.51188	T	0.08	-9.7279	1.4823	0.02439	0.4059:0.2136:0.2643:0.1162	.	292;300;291	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	300;291;292	ENSP00000404853:R300S;ENSP00000252512:R291S;ENSP00000410249:R292S	ENSP00000252512:R291S	R	+	3	2	XPO7	21893576	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	1.344000	0.33941	0.311000	0.23014	0.533000	0.62120	AGA	XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.413	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	105	0.00	0	A	NM_015024		21837630	21837630	+1	no_errors	ENST00000434536	ensembl	human	known	69_37n	missense	107	15.75	20	SNP	1.000	T
ZAP70	7535	genome.wustl.edu	37	2	98354503	98354503	+	Missense_Mutation	SNP	C	C	T	rs200513049		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr2:98354503C>T	ENST00000264972.5	+	13	1884	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	ZAP70_ENST00000451498.2_Missense_Mutation_p.R250W|ZAP70_ENST00000442208.1_Missense_Mutation_p.R431W|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCAGGGCAAGCGGATGGAGTG	0.612																																						dbGAP											0													86.0	83.0	84.0					2																	98354503		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1669C>T	2.37:g.98354503C>T	ENSP00000264972:p.Arg557Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.R557W	ENST00000264972.5	37	c.1669	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158807	0.78226	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.85629	-2.01;-2.01;-2.01	4.66	2.74	0.32292	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41194	D	0.000928	D	0.94647	0.8274	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.94341	0.7570	10	0.87932	D	0	.	11.2621	0.49089	0.3647:0.6353:0.0:0.0	.	431;557	P43403-3;P43403	.;ZAP70_HUMAN	W	557;431;250	ENSP00000264972:R557W;ENSP00000411141:R431W;ENSP00000400475:R250W	ENSP00000264972:R557W	R	+	1	2	ZAP70	97720935	0.981000	0.34729	1.000000	0.80357	0.932000	0.56968	1.617000	0.36943	0.434000	0.26340	0.655000	0.94253	CGG	ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_cat_dom	ENSG00000115085		0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	73	0.00	0	C			98354503	98354503	+1	no_errors	ENST00000264972	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	T
ZNF555	148254	genome.wustl.edu	37	19	2852514	2852514	+	Missense_Mutation	SNP	G	G	T	rs371952649		TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr19:2852514G>T	ENST00000334241.4	+	4	589	c.451G>T	c.(451-453)Gtc>Ttc	p.V151F	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.V150F	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGAAAAGTCTTCATGCA	0.468																																						dbGAP											0													142.0	127.0	132.0					19																	2852514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.451G>T	19.37:g.2852514G>T	ENSP00000334853:p.Val151Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V151F	ENST00000334241.4	37	c.451	CCDS12096.1	19	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176673	0.21704	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.76839	-1.05	3.4	0.975	0.19721	.	.	.	.	.	T	0.63117	0.2484	L	0.39147	1.195	0.09310	N	1	B;B	0.33379	0.41;0.119	B;B	0.28784	0.094;0.021	T	0.57723	-0.7762	9	0.87932	D	0	.	3.3973	0.07311	0.2561:0.2183:0.5256:0.0	.	151;150	Q8NEP9;A8KA89	ZN555_HUMAN;.	F	151;150	ENSP00000334853:V151F	ENSP00000334853:V151F	V	+	1	0	ZNF555	2803514	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.114000	0.15520	0.767000	0.33267	-0.258000	0.10820	GTC	ZNF555	-	NULL	ENSG00000186300		0.468	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	70	0.00	0	G	NM_152791		2852514	2852514	+1	no_errors	ENST00000334241	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	0.073	T
ZNF710	374655	genome.wustl.edu	37	15	90611283	90611283	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RC-01A-11D-A159-09	TCGA-E9-A1RC-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5b5e7eb2-8efc-4681-ab8c-49a9cc4ac6d6	2c3fdd88-5419-495a-b52b-45fd9de1bd51	g.chr15:90611283C>T	ENST00000268154.4	+	2	1165	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AAGTCCTACACGTCCAAGTAC	0.607																																						dbGAP											0													91.0	79.0	83.0					15																	90611283		2200	4298	6498	-	-	-	SO:0001583	missense	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.914C>T	15.37:g.90611283C>T	ENSP00000268154:p.Thr305Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T305M	ENST00000268154.4	37	c.914	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184836	0.78677	.	.	ENSG00000140548	ENST00000268154	T	0.29917	1.55	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.64402	D	0.000002	T	0.52338	0.1728	L	0.58810	1.83	0.58432	D	0.999996	D	0.89917	1.0	D	0.69142	0.962	T	0.52953	-0.8506	10	0.87932	D	0	-33.6138	17.5097	0.87756	0.0:1.0:0.0:0.0	.	305	Q8N1W2	ZN710_HUMAN	M	305	ENSP00000268154:T305M	ENSP00000268154:T305M	T	+	2	0	ZNF710	88412287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.635000	0.83286	2.702000	0.92279	0.655000	0.94253	ACG	ZNF710	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140548		0.607	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	39	0.00	0	C	NM_198526		90611283	90611283	+1	no_errors	ENST00000268154	ensembl	human	known	69_37n	missense	16	63.64	28	SNP	1.000	T
