#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_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_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
LOC101927708	101927708	genome.wustl.edu	37	11	3571901	3571901	+	RNA	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:3571901C>T	ENST00000527970.1	-	0	285																											agccactgcacctagcTGATA	0.522																																																0			11																																								3528477			730993																															11.37:g.3571901C>T			3528477		RNA	SNP	-	NULL	ENST00000527970.1	37	NULL		11																																																																																			-	-		0.522	RP13-726E6.2-002	KNOWN	basic	processed_transcript	LOC730993	processed_transcript	OTTHUMT00000392273.1	C			3528477	-1	pseudogene	XR_038262	genbank	human	model	54_36p	rna	SNP	0.574	T
UHRF1	29128	genome.wustl.edu	37	19	4944464	4944464	+	RNA	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:4944464T>C	ENST00000592666.1	+	0	1881							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGAGTCCAGGTACCTGCAGCG	0.657																																																0			19											38.0	41.0	40.0					19																	4944464		1949	4150	6099	4895464			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944464T>C			4895464	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Splice_Site	SNP	-	e8+2	ENST00000592666.1	37	c.1344+2		19	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895379	0.72639	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4329	0.61066	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	UHRF1	4895464	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	7.582000	0.82546	1.965000	0.57142	0.459000	0.35465	.	-	-		0.657	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	processed_transcript	OTTHUMT00000450444.1	T	NM_001048201		4895464	+1	no_errors	ENST00000398240	ensembl	human	known	54_36p	splice_site	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGCCAGACCTAAGAGCAAT	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	17	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82.0	74.0	76.0					17																	7578290		2203	4300	6503	7519015	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-1G>A	17.37:g.7578290C>T			7519015	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	-	-		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	Intron	7519015	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	splice_site	SNP	0.383	T
DENND5A	23258	genome.wustl.edu	37	11	9172234	9172234	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:9172234C>G	ENST00000328194.3	-	14	2919	c.2599G>C	c.(2599-2601)Gat>Cat	p.D867H	DENND5A_ENST00000530044.1_Missense_Mutation_p.D867H|DENND5A_ENST00000527700.1_Missense_Mutation_p.D210H	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	867	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCTCATATCCTGAATCAGG	0.448																																																0			11											129.0	117.0	121.0					11																	9172234		2201	4296	6497	9128810	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2599G>C	11.37:g.9172234C>G	ENSP00000328524:p.Asp867His		9128810	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT	p.D867H	ENST00000328194.3	37	c.2599	CCDS31423.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.859762|4.859762	0.91433|0.91433	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	5.71|5.71	5.71|5.71	0.89125|0.89125	RUN (2);|.	0.046236|.	0.85682|.	D|.	0.000000|.	D|D	0.83538|0.83538	0.5276|0.5276	M|M	0.85710|0.85710	2.77|2.77	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84437|0.84437	0.0580|0.0580	10|5	0.87932|.	D|.	0|.	.|.	19.857|19.857	0.96762|0.96762	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	867;867|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	H|A	867;867;210|37	ENSP00000328524:D867H;ENSP00000435866:D867H;ENSP00000432549:D210H|.	ENSP00000328524:D867H|.	D|G	-|-	1|2	0|0	DENND5A|DENND5A	9128810|9128810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.763000|7.763000	0.85283|0.85283	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	GAT|GGA	-	HMMPfam_RUN		0.448	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	protein_coding	OTTHUMT00000385910.2	C	NM_015213		9128810	-1	no_errors	NM_015213	genbank	human	validated	54_36p	missense	SNP	1.000	G
COL5A3	50509	genome.wustl.edu	37	19	10116535	10116535	+	Missense_Mutation	SNP	G	G	A	rs556911692	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:10116535G>A	ENST00000264828.3	-	3	459	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	125	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGACCCAGCGCTGGCCCCAG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16022	0.0		0.0	False		,,,				2504	0.002															0			19											25.0	28.0	27.0					19																	10116535		2200	4299	6499	9977535	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.374C>T	19.37:g.10116535G>A	ENSP00000264828:p.Ala125Val		9977535	Q9NZQ6	Missense_Mutation	SNP	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.A125V	ENST00000264828.3	37	c.374	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451235	0.26074	.	.	ENSG00000080573	ENST00000264828	T	0.02177	4.41	4.02	1.76	0.24704	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.182059	0.37809	U	0.001924	T	0.02230	0.0069	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.42068	-0.9473	10	0.52906	T	0.07	.	4.77	0.13151	0.1301:0.2198:0.6502:0.0	.	125	P25940	CO5A3_HUMAN	V	125	ENSP00000264828:A125V	ENSP00000264828:A125V	A	-	2	0	COL5A3	9977535	0.058000	0.20735	0.026000	0.17262	0.096000	0.18686	2.314000	0.43743	0.327000	0.23409	0.462000	0.41574	GCG	-	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases		0.632	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719		9977535	-1	no_errors	NM_015719	genbank	human	reviewed	54_36p	missense	SNP	0.932	A
CLNK	116449	genome.wustl.edu	37	4	10542159	10542159	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:10542159T>A	ENST00000226951.6	-	11	800	c.561A>T	c.(559-561)ttA>ttT	p.L187F	CLNK_ENST00000507719.1_Missense_Mutation_p.L145F|CLNK_ENST00000442825.2_Missense_Mutation_p.L145F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	187					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTCTCTGAGATAAAGGTGGCC	0.547																																					GBM(87;402 1286 6949 13902 35851)											0			4											86.0	88.0	87.0					4																	10542159		2002	4184	6186	10151257	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.561A>T	4.37:g.10542159T>A	ENSP00000226951:p.Leu187Phe		10151257	Q05C27|Q9P2U9	Missense_Mutation	SNP	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2	p.L187F	ENST00000226951.6	37	c.561	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	T	6.222	0.409095	0.11812	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.47528	1.73;0.84;0.84	5.64	-0.704	0.11256	.	1.825130	0.03221	N	0.177481	T	0.23492	0.0568	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.11665	-1.0578	10	0.36615	T	0.2	0.9525	2.233	0.04001	0.1743:0.1139:0.4504:0.2614	.	145;187	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	F	187;151;145;145	ENSP00000226951:L187F;ENSP00000390744:L145F;ENSP00000427208:L145F	ENSP00000226951:L187F	L	-	3	2	CLNK	10151257	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.007000	0.13174	-0.040000	0.13580	-0.168000	0.13345	TTA	-	NULL		0.547	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	protein_coding	OTTHUMT00000359047.1	T	NM_052964		10151257	-1	no_errors	NM_052964	genbank	human	validated	54_36p	missense	SNP	0.000	A
ZNF625	90589	genome.wustl.edu	37	19	12256311	12256311	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:12256311T>G	ENST00000355738.1	-	4	1071	c.722A>C	c.(721-723)cAa>cCa	p.Q241P	ZNF625_ENST00000439556.2_Missense_Mutation_p.Q307P|ZNF625_ENST00000542938.1_Missense_Mutation_p.Q241P|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	241					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)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTTCCCACATTGCTTACATTC	0.433																																																0			19											119.0	115.0	116.0					19																	12256311		2203	4300	6503	12117311	SO:0001583	missense	90589			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.722A>C	19.37:g.12256311T>G	ENSP00000347977:p.Gln241Pro		12117311	A4FU45|I3L0E9	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Q241P	ENST00000355738.1	37	c.722		19	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489061	0.44249	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07444	3.19;3.19;3.19	0.856	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13372	0.0324	L	0.41236	1.265	0.09310	N	1	P;D	0.56968	0.832;0.978	B;P	0.57846	0.1;0.828	T	0.15492	-1.0435	9	0.87932	D	0	.	5.9021	0.18972	0.0:0.0:0.0:1.0	.	241;241	A8K8U0;Q96I27	.;ZN625_HUMAN	P	241;241;307	ENSP00000438436:Q241P;ENSP00000347977:Q241P;ENSP00000394380:Q307P	ENSP00000347977:Q241P	Q	-	2	0	AC022415.5	12117311	0.000000	0.05858	0.017000	0.16124	0.817000	0.46193	-0.183000	0.09712	0.639000	0.30564	0.260000	0.18958	CAA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.433	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	protein_coding		T	NM_145233		12117311	-1	no_errors	NM_145233	genbank	human	provisional	54_36p	missense	SNP	0.011	G
GRIN2B	2904	genome.wustl.edu	37	12	13828710	13828710	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:13828710A>C	ENST00000609686.1	-	4	1303	c.1094T>G	c.(1093-1095)aTt>aGt	p.I365S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	365					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCAGAAGAATTATCACCAG	0.388																																																0			12											130.0	125.0	127.0					12																	13828710		2203	4300	6503	13719977	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1094T>G	12.37:g.13828710A>C	ENSP00000477455:p.Ile365Ser		13719977	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C	p.I365S	ENST00000609686.1	37	c.1094	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416657	0.83449	.	.	ENSG00000150086	ENST00000279593	T	0.09723	2.95	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.82716	2.605	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.23190	-1.0195	10	0.87932	D	0	.	16.2484	0.82467	1.0:0.0:0.0:0.0	.	365	Q13224	NMDE2_HUMAN	S	365	ENSP00000279593:I365S	ENSP00000279593:I365S	I	-	2	0	GRIN2B	13719977	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.904000	0.92590	2.291000	0.77112	0.533000	0.62120	ATT	-	superfamily_SSF53822		0.388	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	protein_coding	OTTHUMT00000268014.2	A			13719977	-1	no_errors	NM_000834	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
BMS1P15	642311	genome.wustl.edu	37	15	20363378	20363378	+	IGR	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:20363378A>T								RP11-173D3.1 (10172 upstream) : CHEK2P2 (124618 downstream)																							AGACCCTATCACTCCACAGGG	0.333																																																0			15																																								18623392	SO:0001628	intergenic_variant	642311																															15.37:g.20363378A>T			18623392		RNA	SNP	-	NULL		37	NULL		15																																																																																			-	-	0	0.333					LOC642311			A			18623392	+1	pseudogene	XR_017705	genbank	human	model	54_36p	rna	SNP	1.000	T
NF1P1	100419006	genome.wustl.edu	37	15	21137633	21137633	+	IGR	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:21137633T>C								POTEB2 (65990 upstream) : MIR5701-1 (7947 downstream)																							AATTGAGTGTTGGTATCCGTC	0.388																																																0			15																																								19402292	SO:0001628	intergenic_variant	440225																															15.37:g.21137633T>C			19402292		RNA	SNP	-	NULL		37	NULL		15																																																																																			-	-	0	0.388					LOC440225			T			19402292	-1	pseudogene	XR_042334	genbank	human	model	54_36p	rna	SNP	1.000	C
OR4K1	79544	genome.wustl.edu	37	14	20404676	20404676	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:20404676C>A	ENST00000285600.4	+	1	910	c.851C>A	c.(850-852)cCc>cAc	p.P284H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGTTGAACCCCATCATCTAC	0.423																																																0			14											101.0	111.0	108.0					14																	20404676		2203	4300	6503	19474516	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.851C>A	14.37:g.20404676C>A	ENSP00000285600:p.Pro284His		19474516	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P284H	ENST00000285600.4	37	c.851	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	15.68	2.905750	0.52333	.	.	ENSG00000155249	ENST00000285600	T	0.64260	-0.09	5.09	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.80082	0.4558	M	0.87971	2.92	0.43308	D	0.995319	D	0.76494	0.999	D	0.70716	0.97	D	0.83760	0.0214	10	0.87932	D	0	.	12.8921	0.58078	0.1639:0.8361:0.0:0.0	.	284	Q8NGD4	OR4K1_HUMAN	H	284	ENSP00000285600:P284H	ENSP00000285600:P284H	P	+	2	0	OR4K1	19474516	0.998000	0.40836	0.973000	0.42090	0.582000	0.36321	5.077000	0.64419	1.384000	0.46424	-0.127000	0.14921	CCC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.423	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	protein_coding	OTTHUMT00000409881.1	C			19474516	+1	no_errors	NM_001004063	genbank	human	provisional	54_36p	missense	SNP	1.000	A
CDH18	1016	genome.wustl.edu	37	5	19473438	19473438	+	Missense_Mutation	SNP	G	G	A	rs201996992		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:19473438G>A	ENST00000507958.1	-	15	3260	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.T757M|CDH18_ENST00000382275.1_Missense_Mutation_p.T757M			Q13634	CAD18_HUMAN	cadherin 18, type 2	757					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGATTGTGTCGTTGCTGAATC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18338	0.0		0.001	False		,,,				2504	0.0															0			5											100.0	102.0	101.0					5																	19473438		2203	4300	6503	19509195	SO:0001583	missense	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2270C>T	5.37:g.19473438G>A	ENSP00000425093:p.Thr757Met		19509195	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.T757M	ENST00000507958.1	37	c.2270	CCDS3889.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.10	3.028294	0.54790	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.78924	-1.22;-1.22;-1.22	6.01	6.01	0.97437	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.86481	0.5943	M	0.75150	2.29	0.09310	N	0.999999	D	0.62365	0.991	P	0.62382	0.901	T	0.79831	-0.1637	8	.	.	.	.	14.6665	0.68913	0.0:0.1451:0.8549:0.0	.	757	Q13634	CAD18_HUMAN	M	757	ENSP00000371710:T757M;ENSP00000425093:T757M;ENSP00000274170:T757M	.	T	-	2	0	CDH18	19509195	0.982000	0.34865	0.137000	0.22149	0.978000	0.69477	4.061000	0.57485	2.861000	0.98227	0.650000	0.86243	ACG	-	HMMPfam_Cadherin_C		0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	protein_coding	OTTHUMT00000366747.1	G	NM_004934		19509195	-1	no_errors	NM_004934	genbank	human	reviewed	54_36p	missense	SNP	0.068	A
NAV2	89797	genome.wustl.edu	37	11	20057533	20057533	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:20057533G>A	ENST00000396087.3	+	13	2965	c.2866G>A	c.(2866-2868)Ggc>Agc	p.G956S	NAV2_ENST00000311043.8_Missense_Mutation_p.G19S|NAV2_ENST00000396085.1_Missense_Mutation_p.G933S|NAV2_ENST00000349880.4_Missense_Mutation_p.G933S|NAV2_ENST00000540292.1_Missense_Mutation_p.G887S|NAV2_ENST00000527559.2_Missense_Mutation_p.G885S|NAV2_ENST00000360655.4_Missense_Mutation_p.G869S|NAV2_ENST00000533917.1_Missense_Mutation_p.G19S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	956					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGTCAGCAGCGGCATCAGCGA	0.542																																																0			11											240.0	150.0	180.0					11																	20057533		2203	4300	6503	20014109	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2866G>A	11.37:g.20057533G>A	ENSP00000379396:p.Gly956Ser		20014109	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382	p.G956S	ENST00000396087.3	37	c.2866	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902676	0.92035	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000530408;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.07;-1.05;-1.06;-1.12;-1.12;0.82;-0.66;-0.52;0.82	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000003	D	0.88108	0.6348	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.86432	0.1761	9	.	.	.	.	20.2265	0.98340	0.0:0.0:1.0:0.0	.	19;19;933;869	Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	S	869;933;933;956;885;887;19;19;19;19;19	ENSP00000353871:G869S;ENSP00000379394:G933S;ENSP00000309577:G933S;ENSP00000379396:G956S;ENSP00000435395:G885S;ENSP00000443489:G887S;ENSP00000437316:G19S;ENSP00000437136:G19S;ENSP00000431276:G19S;ENSP00000312169:G19S	.	G	+	1	0	NAV2	20014109	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.864000	0.99589	2.769000	0.95229	0.655000	0.94253	GGC	-	NULL		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	G	NM_145117		20014109	+1	no_errors	NM_182964	genbank	human	validated	54_36p	missense	SNP	1.000	A
ZNF493	284443	genome.wustl.edu	37	19	21607748	21607748	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:21607748C>G	ENST00000355504.4	+	2	2169	c.1903C>G	c.(1903-1905)Cat>Gat	p.H635D	ZNF493_ENST00000392288.2_Missense_Mutation_p.H763D|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	635					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCATATTGGAAT	0.373																																																0			19											46.0	48.0	47.0					19																	21607748		2203	4297	6500	21399588	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1903C>G	19.37:g.21607748C>G	ENSP00000347691:p.His635Asp		21399588	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.H763D	ENST00000355504.4	37	c.2287	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	13.72	2.322134	0.41096	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.88975	-2.45;-2.45	1.17	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93442	0.7908	H	0.94964	3.605	0.80722	D	1	D;D	0.60575	0.961;0.988	P;P	0.54401	0.69;0.751	D	0.92892	0.6332	9	0.87932	D	0	.	9.1727	0.37093	0.0:1.0:0.0:0.0	.	635;763	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	763;635	ENSP00000376110:H763D;ENSP00000347691:H635D	ENSP00000347691:H635D	H	+	1	0	ZNF493	21399588	0.307000	0.24500	0.010000	0.14722	0.032000	0.12392	1.427000	0.34881	0.563000	0.29222	0.404000	0.27445	CAT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	protein_coding	OTTHUMT00000280563.1	C	NM_175910		21399588	+1	no_errors	NM_001076678	genbank	human	validated	54_36p	missense	SNP	0.044	G
IGLV4-3	28786	genome.wustl.edu	37	22	23214134	23214134	+	RNA	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr22:23214134C>T	ENST00000390318.2	+	0	323									immunoglobulin lambda variable 4-3																		GCTACCTCACCTTCTCCAACC	0.547																																																0			22											71.0	74.0	73.0					22																	23214134		2062	4191	6253	21544134			0			X57828		22q11.2	2012-02-08			ENSG00000211672	ENSG00000211672		"""Immunoglobulins / IGL locus"""	5919	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151244		22.37:g.23214134C>T			21544134		Silent	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406	p.T97	ENST00000390318.2	37	c.291		22																																																																																			-	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406		0.547	IGLV4-3-001	KNOWN	basic|appris_principal	IG_V_gene	IGLV4-3	IG_V_gene	OTTHUMT00000321849.1	C	NG_000002		21544134	+1	no_stop_codon	ENST00000390318	ensembl	human	known	54_36p	silent	SNP	0.109	T
CCDC149	91050	genome.wustl.edu	37	4	24833258	24833258	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:24833258A>T	ENST00000389609.4	-	10	978	c.835T>A	c.(835-837)Tct>Act	p.S279T	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.S279T|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	224										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TGATCCTCAGATAGCAGATCC	0.438																																																0			4											97.0	90.0	92.0					4																	24833258		2203	4300	6503	24442356	SO:0001583	missense	91050				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.835T>A	4.37:g.24833258A>T	ENSP00000374260:p.Ser279Thr		24442356	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	HMMPfam_DUF2353	p.S224T	ENST00000389609.4	37	c.670	CCDS33967.2	4	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012363	0.75046	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	5.65	5.65	0.86999	.	0.125122	0.64402	D	0.000017	T	0.68686	0.3028	L	0.53249	1.67	0.80722	D	1	D;D	0.63046	0.992;0.991	P;P	0.60286	0.872;0.857	T	0.67554	-0.5641	9	0.39692	T	0.17	-8.9329	16.1778	0.81874	1.0:0.0:0.0:0.0	.	224;279	Q6ZUS6;G5EA04	CC149_HUMAN;.	T	279;279;203;224	.	ENSP00000371550:S203T	S	-	1	0	CCDC149	24442356	0.999000	0.42202	0.618000	0.29105	0.936000	0.57629	4.256000	0.58810	2.279000	0.76181	0.533000	0.62120	TCT	-	HMMPfam_DUF2353		0.438	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	protein_coding	OTTHUMT00000360157.1	A	NM_173463		24442356	-1	no_errors	NM_173463	genbank	human	validated	54_36p	missense	SNP	0.997	T
IL21R	50615	genome.wustl.edu	37	16	27454297	27454297	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr16:27454297C>A	ENST00000337929.3	+	5	840	c.367C>A	c.(367-369)Cct>Act	p.P123T	IL21R_ENST00000395755.1_Missense_Mutation_p.P123T|IL21R_ENST00000564089.1_Missense_Mutation_p.P123T|IL21R_ENST00000395754.4_Missense_Mutation_p.P123T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	123	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCCGGCTCCCCCTTTCAACGT	0.498			T	BCL6	NHL																																		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0			16											123.0	123.0	123.0					16																	27454297		2197	4300	6497	27361798	SO:0001583	missense	50615			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.367C>A	16.37:g.27454297C>A	ENSP00000338010:p.Pro123Thr		27361798	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1	p.P123T	ENST00000337929.3	37	c.367	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914551	0.72983	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.92752	-3.1;-3.1;-3.1	4.81	4.81	0.61882	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95506	0.8540	M	0.77820	2.39	0.44000	D	0.996703	D	0.76494	0.999	D	0.75484	0.986	D	0.95811	0.8841	10	0.72032	D	0.01	-10.9783	13.3817	0.60770	0.0:1.0:0.0:0.0	.	123	Q9HBE5	IL21R_HUMAN	T	123	ENSP00000338010:P123T;ENSP00000379104:P123T;ENSP00000379103:P123T	ENSP00000338010:P123T	P	+	1	0	IL21R	27361798	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	4.051000	0.57412	2.209000	0.71365	0.484000	0.47621	CCT	-	superfamily_Fibronectin type III		0.498	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	protein_coding	OTTHUMT00000254578.2	C	NM_181078		27361798	+1	no_errors	NM_021798	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MEP1B	4225	genome.wustl.edu	37	18	29797730	29797730	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr18:29797730G>T	ENST00000269202.6	+	14	1940	c.1893G>T	c.(1891-1893)caG>caT	p.Q631H	MEP1B_ENST00000581447.1_Missense_Mutation_p.Q631H	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	631	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GCAGGTGCCAGTCAGGGGAAG	0.438																																																0			18											96.0	97.0	97.0					18																	29797730		1997	4174	6171	28051728	SO:0001583	missense	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1893G>T	18.37:g.29797730G>T	ENSP00000269202:p.Gln631His		28051728	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH"	p.Q631H	ENST00000269202.6	37	c.1893	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	G	5.154	0.213972	0.09810	.	.	ENSG00000141434	ENST00000269202	D	0.91792	-2.91	5.41	-6.96	0.01622	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.968286	0.08599	N	0.921750	T	0.78142	0.4237	N	0.17082	0.46	0.09310	N	1	B	0.27971	0.196	B	0.26770	0.073	T	0.66598	-0.5883	10	0.39692	T	0.17	0.0564	0.24	0.00191	0.3199:0.1971:0.2491:0.2339	.	631	Q16820	MEP1B_HUMAN	H	631	ENSP00000269202:Q631H	ENSP00000269202:Q631H	Q	+	3	2	MEP1B	28051728	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.049000	0.01405	-1.076000	0.03125	-0.373000	0.07131	CAG	-	NULL		0.438	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	protein_coding	OTTHUMT00000447755.1	G	NM_005925		28051728	+1	no_errors	NM_005925	genbank	human	validated	54_36p	missense	SNP	0.003	T
SLC35G3	146861	genome.wustl.edu	37	17	33520855	33520855	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr17:33520855C>T	ENST00000297307.5	-	1	557	c.472G>A	c.(472-474)Gac>Aac	p.D158N	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	158	EamA 1.					integral component of membrane (GO:0016021)											CCACACCAGTCGTAGCCACTG	0.602																																																0			17											165.0	160.0	162.0					17																	33520855		2203	4300	6503	30544968	SO:0001583	missense	146861			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.472G>A	17.37:g.33520855C>T	ENSP00000297307:p.Asp158Asn		30544968	B9EGE9	Missense_Mutation	SNP	HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE	p.D158N	ENST00000297307.5	37	c.472	CCDS11293.1	17	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357664	0.41801	.	.	ENSG00000164729	ENST00000297307	T	0.52983	0.64	.	.	.	.	0.126803	0.34603	N	0.003838	T	0.31071	0.0785	L	0.32530	0.975	0.35979	D	0.835851	P	0.45176	0.852	B	0.40506	0.331	T	0.24083	-1.0170	9	0.48119	T	0.1	-2.0102	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	158	Q8N808	S35G3_HUMAN	N	158	ENSP00000297307:D158N	ENSP00000297307:D158N	D	-	1	0	SLC35G3	30544968	0.987000	0.35691	0.164000	0.22755	0.164000	0.22412	1.853000	0.39358	0.064000	0.16427	0.064000	0.15345	GAC	-	HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE		0.602	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMAC1	protein_coding	OTTHUMT00000256445.2	C	NM_152462		30544968	-1	no_errors	NM_152462	genbank	human	provisional	54_36p	missense	SNP	0.993	T
EIF6	3692	genome.wustl.edu	37	20	33867912	33867912	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr20:33867912C>G	ENST00000374450.3	-	5	643	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	EIF6_ENST00000374436.3_Missense_Mutation_p.E127Q|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.E108Q|EIF6_ENST00000462894.1_5'UTR|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000435366.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCAGAATTTCTTCTGTCTCC	0.517																																																0			20											105.0	100.0	102.0					20																	33867912		2203	4300	6503	33331326	SO:0001583	missense	3692			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.379G>C	20.37:g.33867912C>G	ENSP00000363574:p.Glu127Gln		33331326		Missense_Mutation	SNP	superfamily_Pentein,HMMPfam_eIF-6,HMMSmart_SM00654	p.E127Q	ENST00000374450.3	37	c.379	CCDS13249.1	20	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697079	0.68386	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	4.86	4.86	0.63082	.	0.098253	0.64402	D	0.000002	T	0.79009	0.4374	M	0.83118	2.625	0.58432	D	0.999992	D;P	0.60575	0.988;0.835	D;P	0.63877	0.919;0.646	T	0.82362	-0.0495	9	0.66056	D	0.02	-18.4085	15.5555	0.76189	0.0:1.0:0.0:0.0	.	108;127	B7ZBG9;P56537	.;IF6_HUMAN	Q	127;108;127	.	ENSP00000363559:E127Q	E	-	1	0	EIF6	33331326	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.578000	0.82498	2.447000	0.82792	0.555000	0.69702	GAA	-	superfamily_Pentein,HMMPfam_eIF-6,HMMSmart_SM00654		0.517	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	protein_coding	OTTHUMT00000078848.3	C	NM_002212		33331326	-1	no_errors	NM_002212	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RPL35P2	646766	genome.wustl.edu	37	6	34231306	34231306	+	IGR	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:34231306C>T								C6orf1 (14059 upstream) : RP11-513I15.6 (16149 downstream)																							GATTTGCGGACGACTCGGATC	0.537																																																0			6																																								34339284	SO:0001628	intergenic_variant	646766																															6.37:g.34231306C>T			34339284		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.537					LOC646766			C			34339284	-1	pseudogene	XR_017605	genbank	human	model	54_36p	rna	SNP	0.995	T
ZNF536	9745	genome.wustl.edu	37	19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622																																																1	Substitution - Missense(1)	large_intestine(1)	19											82.0	94.0	90.0					19																	30936378		2203	4300	6503	35628218	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1909G>A	19.37:g.30936378G>A	ENSP00000347730:p.Gly637Ser		35628218	A2RU18	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G637S	ENST00000355537.3	37	c.1909	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754706	0.69648	.	.	ENSG00000198597	ENST00000355537	T	0.58358	0.34	5.68	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049558	0.85682	D	0.000000	T	0.67822	0.2934	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.71935	-0.4442	10	0.72032	D	0.01	-33.1419	16.434	0.83869	0.0:0.1316:0.8684:0.0	.	637;637	A7E228;O15090	.;ZN536_HUMAN	S	637	ENSP00000347730:G637S	ENSP00000347730:G637S	G	+	1	0	ZNF536	35628218	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.435000	0.97529	1.324000	0.45282	0.655000	0.94253	GGC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	G	NM_014717		35628218	+1	no_errors	NM_014717	genbank	human	provisional	54_36p	missense	SNP	1.000	A
UNC5D	137970	genome.wustl.edu	37	8	35606197	35606197	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:35606197A>G	ENST00000404895.2	+	12	2247	c.1919A>G	c.(1918-1920)cAg>cGg	p.Q640R	UNC5D_ENST00000287272.2_Missense_Mutation_p.Q571R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q635R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q573R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q645R|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q216R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	640	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGAGGACACAGCAGGGCAAA	0.448																																																0			8											128.0	118.0	121.0					8																	35606197		2203	4300	6503	35725739	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1919A>G	8.37:g.35606197A>G	ENSP00000385143:p.Gln640Arg		35725739	Q8WYP7	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,PatternScan_SERPIN,HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death	p.Q635R	ENST00000404895.2	37	c.1904	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474540	0.43942	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.88	4.71	0.59529	ZU5 (2);	0.099188	0.64402	D	0.000001	T	0.42040	0.1185	L	0.59436	1.845	0.40087	D	0.976201	P;B;P	0.35793	0.521;0.328;0.521	B;B;B	0.40825	0.341;0.23;0.341	T	0.20874	-1.0262	10	0.12430	T	0.62	-10.6358	13.2767	0.60191	0.8676:0.1323:0.0:0.0	.	216;635;640	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	R	640;573;571;645;635;216	ENSP00000385143:Q640R;ENSP00000392739:Q573R;ENSP00000287272:Q571R;ENSP00000412652:Q645R;ENSP00000394303:Q635R;ENSP00000397211:Q216R	ENSP00000287272:Q571R	Q	+	2	0	UNC5D	35725739	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.809000	0.62591	1.027000	0.39758	0.533000	0.62120	CAG	-	HMMPfam_ZU5		0.448	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	protein_coding	OTTHUMT00000347586.2	A			35725739	+1	no_errors	NM_080872	genbank	human	validated	54_36p	missense	SNP	1.000	G
SIM2	6493	genome.wustl.edu	37	21	38098468	38098468	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr21:38098468A>T	ENST00000290399.6	+	6	1205	c.592A>T	c.(592-594)Atg>Ttg	p.M198L	SIM2_ENST00000430056.3_Missense_Mutation_p.M198L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	198					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TATGCTGGACATGTCCCTGTA	0.592																																																0			21											128.0	118.0	121.0					21																	38098468		2203	4300	6503	37020338	SO:0001583	missense	6493				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.592A>T	21.37:g.38098468A>T	ENSP00000290399:p.Met198Leu		37020338	O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086,HMMPfam_SIM_C	p.M198L	ENST00000290399.6	37	c.592	CCDS13646.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.46|12.46	1.944899|1.944899	0.34283|0.34283	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.68903	.|-0.36;-0.36	5.44|5.44	1.73|1.73	0.24493|0.24493	.|.	.|0.206208	.|0.64402	.|N	.|0.000019	T|T	0.46171|0.46171	0.1379|0.1379	L|L	0.27053|0.27053	0.805|0.805	0.29718|0.29718	N|N	0.838903|0.838903	.|B;B	.|0.13145	.|0.007;0.001	.|B;B	.|0.13407	.|0.009;0.008	T|T	0.29181|0.29181	-1.0020|-1.0020	5|10	.|0.21014	.|T	.|0.42	.|.	6.6556|6.6556	0.22986|0.22986	0.7327:0.1302:0.137:0.0|0.7327:0.1302:0.137:0.0	.|.	.|198;198	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	L|L	135|198	.|ENSP00000290399:M198L;ENSP00000404176:M198L	.|ENSP00000290399:M198L	H|M	+|+	2|1	0|0	SIM2|SIM2	37020338|37020338	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.288000|1.288000	0.33296|0.33296	0.429000|0.429000	0.26202|0.26202	0.533000|0.533000	0.62120|0.62120	CAT|ATG	-	NULL		0.592	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	protein_coding	OTTHUMT00000194692.1	A	NM_009586		37020338	+1	no_errors	NM_005069	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TRPC4	7223	genome.wustl.edu	37	13	38225539	38225539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr13:38225539C>A	ENST00000379705.3	-	8	2799	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.E475*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E648*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E648*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E648*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.E475*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E648*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	648	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTCCTTCTTCAAAATAACTC	0.423																																																0			13											131.0	128.0	129.0					13																	38225539		2203	4300	6503	37123539	SO:0001587	stop_gained	7223			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1942G>T	13.37:g.38225539C>A	ENSP00000369027:p.Glu648*		37123539	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans,PatternScan_RIBOSOMAL_S2_1	p.E648*	ENST00000379705.3	37	c.1942	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.434790	0.98810	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.2525	19.7571	0.96298	0.0:1.0:0.0:0.0	.	.	.	.	X	648;648;475;475;648;648;648	.	ENSP00000342580:E475X	E	-	1	0	TRPC4	37123539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.758000	0.94735	0.561000	0.74099	GAA	-	NULL		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	protein_coding	OTTHUMT00000044574.2	C	NM_003306		37123539	-1	no_errors	NM_016179	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
SLC25A51	92014	genome.wustl.edu	37	9	37888029	37888029	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:37888029A>G	ENST00000377716.2	-	3	1262	c.519T>C	c.(517-519)taT>taC	p.Y173Y	RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Silent_p.Y173Y|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Silent_p.Y173Y			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	173					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CCAAGCCTCGATAATACTCTC	0.463																																																0			9											117.0	113.0	114.0					9																	37888029		2203	4298	6501	37878029	SO:0001819	synonymous_variant	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.519T>C	9.37:g.37888029A>G			37878029		Silent	SNP	superfamily_Mitoch_carrier,HMMPfam_Mito_carr	p.Y173	ENST00000377716.2	37	c.519	CCDS6614.1	9																																																																																			-	superfamily_Mitoch_carrier,HMMPfam_Mito_carr		0.463	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCART1	protein_coding	OTTHUMT00000313746.1	A	NM_033412		37878029	-1	no_errors	NM_033412	genbank	human	validated	54_36p	silent	SNP	1.000	G
MACF1	23499	genome.wustl.edu	37	1	39751003	39751003	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:39751003C>G	ENST00000372915.3	+	12	1396	c.1309C>G	c.(1309-1311)Cag>Gag	p.Q437E	MACF1_ENST00000539005.1_Missense_Mutation_p.Q437E|MACF1_ENST00000545844.1_Missense_Mutation_p.Q437E|MACF1_ENST00000567887.1_Missense_Mutation_p.Q469E|MACF1_ENST00000564288.1_Missense_Mutation_p.Q432E|MACF1_ENST00000317713.7_Missense_Mutation_p.Q437E|MACF1_ENST00000361689.2_Missense_Mutation_p.Q437E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	437					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)			AAACAAAATCCAGAATGGTGC	0.398																																																0			1											127.0	121.0	123.0					1																	39751003		2203	4300	6503	39523590	SO:0001583	missense	23499			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.1309C>G	1.37:g.39751003C>G	ENSP00000362006:p.Gln437Glu		39523590	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243	p.Q437E	ENST00000372915.3	37	c.1309		1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879903	0.91740	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.67	5.67	0.87782	.	.	.	.	.	D	0.97005	0.9022	M	0.84326	2.69	0.80722	D	1	D;D	0.61697	0.99;0.981	D;P	0.72982	0.979;0.832	D	0.97192	0.9858	9	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	437;402	F8W8Q1;Q9UPN3-3	.;.	E	437;437;437;437;437;395;586;597	ENSP00000439537:Q437E;ENSP00000362006:Q437E;ENSP00000354573:Q437E;ENSP00000313438:Q437E;ENSP00000444364:Q437E;ENSP00000435070:Q395E;ENSP00000437059:Q586E	ENSP00000313438:Q437E	Q	+	1	0	MACF1	39523590	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.687000	0.91594	0.655000	0.94253	CAG	-	NULL		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39523590	+1	no_errors	NM_012090	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RPL5P34	388907	genome.wustl.edu	37	22	43172976	43172976	+	IGR	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr22:43172976A>T								Y_RNA (14011 upstream) : ARFGAP3 (19531 downstream)																							ACCTATCAAGAAGCCTGCGGG	0.517																																																0			22																																								41502920	SO:0001628	intergenic_variant	388907																															22.37:g.43172976A>T			41502920		RNA	SNP	-	NULL		37	NULL		22																																																																																			-	-	0	0.517					LOC388907			A			41502920	-1	pseudogene	XR_017615	genbank	human	model	54_36p	rna	SNP	1.000	T
ATP8A1	10396	genome.wustl.edu	37	4	42576692	42576692	+	Silent	SNP	A	A	C	rs149132912	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:42576692A>C	ENST00000381668.5	-	14	1470	c.1239T>G	c.(1237-1239)acT>acG	p.T413T	ATP8A1_ENST00000264449.10_Silent_p.T413T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	413					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGCATGTCAGAGTACCAGTTT	0.313																																																0			4											56.0	57.0	56.0					4																	42576692		2203	4299	6502	42271449	SO:0001819	synonymous_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1239T>G	4.37:g.42576692A>C			42271449	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.T413	ENST00000381668.5	37	c.1239	CCDS3466.1	4																																																																																			-	superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2		0.313	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	protein_coding	OTTHUMT00000216861.2	A	NM_006095		42271449	-1	no_errors	NM_006095	genbank	human	reviewed	54_36p	silent	SNP	0.834	C
CUL9	23113	genome.wustl.edu	37	6	43167739	43167739	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:43167739T>G	ENST00000252050.4	+	14	3313	c.3229T>G	c.(3229-3231)Tgc>Ggc	p.C1077G	CUL9_ENST00000372647.2_Missense_Mutation_p.C1077G|CUL9_ENST00000354495.3_Missense_Mutation_p.C967G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1077					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGCTCTGCTGCCTGGGAGC	0.537																																																0			6											128.0	101.0	110.0					6																	43167739		2203	4300	6503	43275717	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3229T>G	6.37:g.43167739T>G	ENSP00000252050:p.Cys1077Gly		43275717	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	"superfamily_ARM repeat,superfamily_Galactose-binding domain-like,HMMPfam_APC10,PatternScan_CYTOCHROME_P450,HMMPfam_Cullin,superfamily_Cullin homology domain,superfamily_""Winged helix"" DNA-binding domain,PatternScan_CULLIN_1,superfamily_RING/U-box,HMMPfam_IBR,HMMSmart_SM00647,PatternScan_ZF_RING_1"	p.C1077G	ENST00000252050.4	37	c.3229	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	T	16.06	3.017089	0.54576	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72394	-0.65;-0.65;-0.55	5.37	4.24	0.50183	Armadillo-like helical (1);Armadillo-type fold (1);	0.155174	0.64402	D	0.000016	T	0.41696	0.1170	N	0.22421	0.69	0.41106	D	0.985706	P;B;B	0.38455	0.632;0.258;0.258	B;B;B	0.43728	0.429;0.119;0.119	T	0.54029	-0.8354	10	0.46703	T	0.11	-14.4568	1.6346	0.02740	0.2705:0.2402:0.0:0.4893	.	967;1077;1077	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	G	1077;967;1077	ENSP00000252050:C1077G;ENSP00000346490:C967G;ENSP00000361730:C1077G	ENSP00000252050:C1077G	C	+	1	0	CUL9	43275717	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.169000	0.50809	2.036000	0.60181	0.533000	0.62120	TGC	-	superfamily_ARM repeat		0.537	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	T	NM_015089		43275717	+1	no_errors	NM_015089	genbank	human	validated	54_36p	missense	SNP	1.000	G
TESK2	10420	genome.wustl.edu	37	1	45923454	45923454	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:45923454C>A	ENST00000372086.3	-	2	404	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.D2Y|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Missense_Mutation_p.D2Y|TESK2_ENST00000451835.2_Missense_Mutation_p.D2Y	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	2					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TTGCTCCGATCCATAGTCTAA	0.398																																																0			1											95.0	90.0	92.0					1																	45923454		1840	4092	5932	45696041	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.4G>T	1.37:g.45923454C>A	ENSP00000361158:p.Asp2Tyr		45696041	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.D2Y	ENST00000372086.3	37	c.4	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294694	0.81025	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	T;T;T;T	0.75367	-0.89;-0.93;-0.89;2.24	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000006	T	0.80325	0.4602	L	0.29908	0.895	0.53688	D	0.999977	D;D;D	0.89917	0.971;1.0;1.0	P;D;D	0.72338	0.641;0.977;0.95	T	0.83127	-0.0115	10	0.87932	D	0	-19.1026	18.4182	0.90577	0.0:1.0:0.0:0.0	.	2;2;2	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	Y	2	ENSP00000361156:D2Y;ENSP00000361158:D2Y;ENSP00000343940:D2Y;ENSP00000397244:D2Y	ENSP00000343940:D2Y	D	-	1	0	TESK2	45696041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.996000	0.76263	2.365000	0.80145	0.585000	0.79938	GAT	-	NULL		0.398	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	protein_coding	OTTHUMT00000020523.1	C	NM_007170		45696041	-1	no_errors	NM_007170	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TMEM69	51249	genome.wustl.edu	37	1	46159281	46159281	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:46159281C>T	ENST00000372025.4	+	3	1605	c.448C>T	c.(448-450)Cca>Tca	p.P150S	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	150						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTTTGCTCTACCAGAAGGTAG	0.413																																																0			1											86.0	84.0	84.0					1																	46159281		1863	4094	5957	45931868	SO:0001583	missense	51249			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.448C>T	1.37:g.46159281C>T	ENSP00000361095:p.Pro150Ser		45931868	Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	NULL	p.P150S	ENST00000372025.4	37	c.448	CCDS41325.1	1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568204	0.65651	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.83	3.88	0.44766	.	0.150618	0.64402	D	0.000011	T	0.67534	0.2903	L	0.48642	1.525	0.54753	D	0.999987	D	0.69078	0.997	D	0.67103	0.949	T	0.65232	-0.6218	9	0.37606	T	0.19	-2.307	14.8253	0.70107	0.2631:0.7369:0.0:0.0	.	150	Q5SWH9	TMM69_HUMAN	S	150	.	ENSP00000361095:P150S	P	+	1	0	TMEM69	45931868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.727000	0.54984	0.731000	0.32448	0.491000	0.48974	CCA	-	NULL		0.413	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM69	protein_coding	OTTHUMT00000098390.1	C	NM_016486		45931868	+1	no_errors	NM_016486	genbank	human	validated	54_36p	missense	SNP	1.000	T
FYCO1	79443	genome.wustl.edu	37	3	46003822	46003822	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr3:46003822T>C	ENST00000296137.2	-	11	3537	c.3332A>G	c.(3331-3333)cAg>cGg	p.Q1111R	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q1111R	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1111					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGTCACCTCCTGGCAGAGTTT	0.478																																																0			3											314.0	313.0	313.0					3																	46003822		2203	4300	6503	45978826	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3332A>G	3.37:g.46003822T>C	ENSP00000296137:p.Gln1111Arg		45978826	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-binding arm,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,superfamily_Supernatant protein factor (SPF) C-terminal domain	p.Q1111R	ENST00000296137.2	37	c.3332	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971261	0.34754	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23147	1.93;1.92	5.91	4.76	0.60689	.	0.559983	0.20042	N	0.100487	T	0.19208	0.0461	L	0.50333	1.59	0.27861	N	0.940402	P;B	0.35077	0.483;0.046	B;B	0.25140	0.058;0.021	T	0.11767	-1.0574	10	0.16896	T	0.51	-18.7368	10.3245	0.43785	0.0:0.0733:0.0:0.9267	.	1111;1111	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	R	1111	ENSP00000296137:Q1111R;ENSP00000441178:Q1111R	ENSP00000296137:Q1111R	Q	-	2	0	FYCO1	45978826	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.485000	0.53208	1.075000	0.40932	0.533000	0.62120	CAG	-	NULL		0.478	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	protein_coding	OTTHUMT00000257320.2	T	NM_024513		45978826	-1	no_errors	NM_024513	genbank	human	validated	54_36p	missense	SNP	0.991	C
MBD1	4152	genome.wustl.edu	37	18	47803285	47803285	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr18:47803285C>T	ENST00000591416.1	-	4	740	c.309G>A	c.(307-309)caG>caA	p.Q103Q	MBD1_ENST00000585595.1_Silent_p.Q103Q|MBD1_ENST00000349085.2_Silent_p.Q103Q|MBD1_ENST00000382948.5_Silent_p.Q103Q|MBD1_ENST00000436910.1_Silent_p.Q103Q|MBD1_ENST00000457839.2_Silent_p.Q103Q|MBD1_ENST00000398493.1_Silent_p.Q103Q|MBD1_ENST00000587605.1_Silent_p.Q103Q|MBD1_ENST00000339998.6_Silent_p.Q103Q|MBD1_ENST00000269471.5_Silent_p.Q103Q|MBD1_ENST00000588937.1_Silent_p.Q103Q|MBD1_ENST00000590208.1_Silent_p.Q103Q|MBD1_ENST00000269468.5_Silent_p.Q103Q|MBD1_ENST00000347968.3_Silent_p.Q103Q|MBD1_ENST00000398488.1_Silent_p.Q103Q|MBD1_ENST00000585672.1_Silent_p.Q103Q|MBD1_ENST00000591535.1_Silent_p.Q103Q|MBD1_ENST00000353909.3_Silent_p.Q103Q|MBD1_ENST00000398495.2_Silent_p.Q103Q|MBD1_ENST00000424334.2_Silent_p.Q129Q			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	103					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCACCACTCTGGGGTCCAA	0.587																																																0			18											135.0	124.0	128.0					18																	47803285		2203	4300	6503	46057283	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.309G>A	18.37:g.47803285C>T			46057283	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	HMMPfam_MBD,superfamily_DNA-binding domain,HMMSmart_SM00391,HMMPfam_zf-CXXC	p.Q103	ENST00000591416.1	37	c.309	CCDS11943.1	18																																																																																			-	NULL		0.587	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	protein_coding	OTTHUMT00000255926.3	C	NM_015846		46057283	-1	no_errors	NM_015846	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
CKAP5	9793	genome.wustl.edu	37	11	46801604	46801604	+	Intron	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:46801604A>G	ENST00000529230.1	-	20	2480				CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Intron|CKAP5_ENST00000312055.5_Intron			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						tacagcccaaaacatctgcac	0.507																																					Ovarian(4;85 273 2202 4844 13323)											0			11																																								46758180	SO:0001627	intron_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2433+139T>C	11.37:g.46801604A>G			46758180	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	RNA	SNP	-	NULL	ENST00000529230.1	37	NULL	CCDS31477.1	11																																																																																			-	-		0.507	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000209709	protein_coding	OTTHUMT00000390679.1	A	NM_014756		46758180	-1	pseudogene	ENST00000386974	ensembl	human	novel	54_36p	rna	SNP	0.998	G
NUP160	23279	genome.wustl.edu	37	11	47814442	47814442	+	Silent	SNP	G	G	T	rs556166169		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:47814442G>T	ENST00000378460.2	-	28	3392	c.3346C>A	c.(3346-3348)Cgg>Agg	p.R1116R	NUP160_ENST00000530326.1_Silent_p.R1002R|NUP160_ENST00000528071.1_Silent_p.R1002R	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1116					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCAAGTCCCCGGAGAGTTCGA	0.438																																																0			11											115.0	109.0	111.0					11																	47814442		2201	4298	6499	47771018	SO:0001819	synonymous_variant	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3346C>A	11.37:g.47814442G>T			47771018	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	PatternScan_HIS_ACID_PHOSPHAT_1	p.R1116	ENST00000378460.2	37	c.3346	CCDS31484.1	11																																																																																			-	NULL		0.438	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	protein_coding	OTTHUMT00000390239.2	G	NM_015231		47771018	-1	no_errors	NM_015231	genbank	human	validated	54_36p	silent	SNP	0.997	T
TUBA1B	10376	genome.wustl.edu	37	12	49523282	49523282	+	Splice_Site	SNP	C	C	A	rs112565631|rs11546613		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:49523282C>A	ENST00000336023.5	-	2	321		c.e2+1		RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCAACTCACCAATGACTGT	0.577																																																0			12											125.0	120.0	122.0					12																	49523282		2203	4300	6503	47809549	SO:0001630	splice_region_variant	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.226+1G>T	12.37:g.49523282C>A			47809549	P04687|P05209|Q27I68|Q8WU19	Splice_Site	SNP	-	e2+1	ENST00000336023.5	37	c.226+1	CCDS31792.1	12	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815747	0.50527	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367;ENST00000549870;ENST00000547476;ENST00000552984	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8584	0.57899	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBA1B	47809549	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.545000	0.82128	2.085000	0.62840	0.558000	0.71614	.	-	-		0.577	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	protein_coding	OTTHUMT00000409005.1	C	NM_006082	Intron	47809549	-1	no_errors	NM_006082	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
TRPM7	54822	genome.wustl.edu	37	15	50935666	50935666	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:50935666C>G	ENST00000313478.7	-	5	687	c.406G>C	c.(406-408)Gtt>Ctt	p.V136L	TRPM7_ENST00000560955.1_Missense_Mutation_p.V136L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	136					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAGAGATAACAAGTTTGGGT	0.403																																																0			15											119.0	109.0	112.0					15																	50935666		1863	4115	5978	48722958	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.406G>C	15.37:g.50935666C>G	ENSP00000320239:p.Val136Leu		48722958	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	HMMPfam_Ion_trans,superfamily_Kinase_like,HMMSmart_Alpha_kinase,HMMPfam_Alpha_kinase	p.V136L	ENST00000313478.7	37	c.406	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131451	0.37630	.	.	ENSG00000092439	ENST00000313478	T	0.01113	5.32	5.1	5.1	0.69264	.	0.067447	0.64402	D	0.000011	T	0.01029	0.0034	N	0.13098	0.295	0.53005	D	0.999961	B	0.15141	0.012	B	0.16289	0.015	T	0.56105	-0.8034	10	0.06494	T	0.89	-22.9973	18.7015	0.91621	0.0:1.0:0.0:0.0	.	136	Q96QT4	TRPM7_HUMAN	L	136	ENSP00000320239:V136L	ENSP00000320239:V136L	V	-	1	0	TRPM7	48722958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.004000	0.57068	2.632000	0.89209	0.650000	0.86243	GTT	-	NULL		0.403	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	protein_coding	OTTHUMT00000418604.1	C	NM_017672		48722958	-1	no_errors	NM_017672	genbank	human	validated	54_36p	missense	SNP	1.000	G
RNY4P30	100862673	genome.wustl.edu	37	13	50465305	50465305	+	RNA	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr13:50465305C>A	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		CCAAAATGACCTTCAAGAGAT	0.373																																																0			13																																								49363306			220429					13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50465305C>A			49363306		RNA	SNP	-	NULL	ENST00000410216.1	37	NULL		13																																																																																			-	-		0.373	RNY4P30-201	KNOWN	basic	misc_RNA	LOC220429	misc_RNA		C			49363306	+1	pseudogene	NR_003268	genbank	human	validated	54_36p	rna	SNP	0.006	A
KRT2	3849	genome.wustl.edu	37	12	53045405	53045405	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:53045405C>T	ENST00000309680.3	-	1	543	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	174	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGGGCCTTCACATTCTGGA	0.527																																																0			12											148.0	142.0	144.0					12																	53045405		2203	4300	6503	51331672	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.522G>A	12.37:g.53045405C>T			51331672	Q4VAQ2	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.V174	ENST00000309680.3	37	c.522	CCDS8835.1	12																																																																																			-	NULL		0.527	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	protein_coding	OTTHUMT00000405704.1	C	NM_000423		51331672	-1	no_errors	NM_000423	genbank	human	reviewed	54_36p	silent	SNP	0.331	T
Unknown	0	genome.wustl.edu	37	12	53125056	53125056	+	IGR	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:53125056A>T								KRT77 (27809 upstream) : KRT76 (36882 downstream)																							GGATACATCCATTGACTACAA	0.473																																																0			12																																								51411323	SO:0001628	intergenic_variant	400036																															12.37:g.53125056A>T			51411323		RNA	SNP	-	NULL		37	NULL		12																																																																																			-	-	0	0.473					LOC400036			A			51411323	+1	pseudogene	XR_042304	genbank	human	model	54_36p	rna	SNP	1.000	T
KRT3	3850	genome.wustl.edu	37	12	53185478	53185478	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:53185478C>G	ENST00000417996.2	-	6	1385	c.1311G>C	c.(1309-1311)aaG>aaC	p.K437N	KRT3_ENST00000309505.3_Missense_Mutation_p.K437N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	437	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ATCCCACCTGCTTCTTGACAC	0.557																																																0			12											103.0	104.0	103.0					12																	53185478		2199	4300	6499	51471745	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1311G>C	12.37:g.53185478C>G	ENSP00000413479:p.Lys437Asn		51471745	A6NIS2|Q701L8	Missense_Mutation	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.K437N	ENST00000417996.2	37	c.1311	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727324	0.48833	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.88818	-2.43;-2.43	4.02	3.12	0.35913	Filament (1);	0.000000	0.47455	D	0.000237	D	0.87466	0.6184	M	0.65498	2.005	0.38371	D	0.944888	P	0.52170	0.951	P	0.46885	0.53	D	0.88257	0.2920	10	0.62326	D	0.03	.	7.4271	0.27105	0.0:0.7462:0.0:0.2538	.	437	P12035	K2C3_HUMAN	N	437	ENSP00000413479:K437N;ENSP00000312206:K437N	ENSP00000312206:K437N	K	-	3	2	KRT3	51471745	0.924000	0.31332	1.000000	0.80357	0.682000	0.39822	0.034000	0.13776	2.247000	0.74100	0.462000	0.41574	AAG	-	HMMPfam_Filament		0.557	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	protein_coding	OTTHUMT00000405930.1	C	NM_057088		51471745	-1	no_errors	NM_057088	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
FAM21A	387680	genome.wustl.edu	37	10	51892657	51892657	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr10:51892657G>A	ENST00000282633.5	+	31	4023	c.3978G>A	c.(3976-3978)aaG>aaA	p.K1326K	FAM21A_ENST00000351071.6_Silent_p.K1305K|FAM21A_ENST00000314664.7_Silent_p.K1264K|FAM21A_ENST00000399339.2_Silent_p.K1238K	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1326					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TTGAACACAAGGTGTCCAACA	0.468																																																0			10											22.0	20.0	20.0					10																	51892657		1756	3680	5436	51562663	SO:0001819	synonymous_variant	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3978G>A	10.37:g.51892657G>A			51562663	A2A3S2|A2A3U6|Q6DHY0	Silent	SNP	NULL	p.K1326	ENST00000282633.5	37	c.3978	CCDS41527.1	10																																																																																			-	NULL		0.468	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	protein_coding	OTTHUMT00000276917.2	G	NM_001005751		51562663	+1	no_errors	NM_001005751	genbank	human	validated	54_36p	silent	SNP	0.987	A
ZCCHC11	23318	genome.wustl.edu	37	1	52991500	52991500	+	Silent	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:52991500T>C	ENST00000371544.3	-	2	715	c.453A>G	c.(451-453)gaA>gaG	p.E151E	ZCCHC11_ENST00000257177.4_Silent_p.E151E|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Silent_p.E151E	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	151					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGGTACTTTTTCTGACTTCA	0.383																																																0			1											186.0	192.0	190.0					1																	52991500		2203	4300	6503	52764088	SO:0001819	synonymous_variant	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.453A>G	1.37:g.52991500T>C			52764088	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2	p.E151	ENST00000371544.3	37	c.453	CCDS30716.1	1																																																																																			-	NULL		0.383	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	protein_coding	OTTHUMT00000022462.1	T	XM_038288		52764088	-1	no_errors	NM_001009881	genbank	human	validated	54_36p	silent	SNP	0.967	C
NEDD4	4734	genome.wustl.edu	37	15	56208755	56208755	+	Missense_Mutation	SNP	T	T	G	rs372470866		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:56208755T>G	ENST00000508342.1	-	1	574	c.275A>C	c.(274-276)cAg>cCg	p.Q92P	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q92P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q92P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	92	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTGTTGGCTGTAGTGAAAT	0.378																																																0			15											154.0	135.0	142.0					15																	56208755		2193	4292	6485	53996047	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.275A>C	15.37:g.56208755T>G	ENSP00000424827:p.Gln92Pro		53996047	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT	p.Q92P	ENST00000508342.1	37	c.275		15	.	.	.	.	.	.	.	.	.	.	T	18.91	3.722880	0.68959	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.44881	0.91;0.91;0.91	5.39	4.26	0.50523	.	0.455228	0.16302	N	0.220419	T	0.54111	0.1838	.	.	.	0.27371	N	0.955684	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.58210	0.835;0.688;0.835	T	0.49133	-0.8971	9	0.87932	D	0	.	10.2055	0.43109	0.0:0.0781:0.0:0.9219	.	92;92;92	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	P	92	ENSP00000424827:Q92P;ENSP00000345530:Q92P;ENSP00000422705:Q92P	ENSP00000345530:Q92P	Q	-	2	0	NEDD4	53996047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.587000	0.67510	2.182000	0.69389	0.482000	0.46254	CAG	-	NULL		0.378	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	protein_coding	OTTHUMT00000359817.1	T	NM_198400		53996047	-1	no_errors	NM_198400	genbank	human	validated	54_36p	missense	SNP	1.000	G
PFKFB1	5207	genome.wustl.edu	37	X	54960256	54960256	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chrX:54960256C>G	ENST00000375006.3	-	13	1424	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E252Q|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E387Q	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	452	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCACCTACCTCAGGCTTCTCC	0.557																																																0			X											80.0	58.0	65.0					X																	54960256		2203	4300	6503	54976981	SO:0001583	missense	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1354G>C	X.37:g.54960256C>G	ENSP00000364145:p.Glu452Gln		54976981	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	HMMPfam_6PF2K,superfamily_SSF52540,HMMPfam_PGAM,superfamily_SSF53254,PatternScan_PG_MUTASE	p.E452Q	ENST00000375006.3	37	c.1354	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334490	0.24253	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.27	3.32	0.38043	.	0.367615	0.31257	N	0.007970	T	0.34193	0.0889	L	0.33485	1.01	0.37005	D	0.895461	B;B;B	0.13145	0.0;0.007;0.0	B;B;B	0.12837	0.001;0.008;0.001	T	0.19910	-1.0291	9	0.13470	T	0.59	-14.8993	6.5868	0.22624	0.1759:0.5222:0.3019:0.0	.	387;252;452	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	Q	452;387;252	.	ENSP00000364131:E252Q	E	-	1	0	PFKFB1	54976981	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.343000	0.33930	1.886000	0.54624	0.525000	0.51046	GAG	-	superfamily_SSF53254		0.557	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	protein_coding	OTTHUMT00000056847.1	C			54976981	-1	no_errors	NM_002625	genbank	human	reviewed	54_36p	missense	SNP	0.841	G
TIMELESS	8914	genome.wustl.edu	37	12	56824684	56824684	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:56824684A>C	ENST00000553532.1	-	9	1040	c.890T>G	c.(889-891)tTt>tGt	p.F297C	TIMELESS_ENST00000554616.1_Missense_Mutation_p.F297C|TIMELESS_ENST00000229201.4_Missense_Mutation_p.F296C					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCTTTGTGAAAGATGAGGTC	0.448																																																0			12											184.0	178.0	180.0					12																	56824684		2203	4300	6503	55110951	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.890T>G	12.37:g.56824684A>C	ENSP00000450607:p.Phe297Cys		55110951		Missense_Mutation	SNP	HMMPfam_TIMELESS,HMMPfam_TIMELESS_C	p.F297C	ENST00000553532.1	37	c.890	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514126	0.44763	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11495	3.29;3.29;2.77	5.51	5.51	0.81932	.	0.058253	0.64402	D	0.000001	T	0.13543	0.0328	N	0.12182	0.205	0.38828	D	0.955788	D;D	0.76494	0.999;0.998	P;P	0.62740	0.906;0.808	T	0.20605	-1.0270	10	0.37606	T	0.19	-14.6524	10.2132	0.43154	0.8516:0.0:0.0:0.1484	.	296;297	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	C	296;297;297	ENSP00000229201:F296C;ENSP00000450607:F297C;ENSP00000450848:F297C	ENSP00000229201:F297C	F	-	2	0	TIMELESS	55110951	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.047000	0.57383	2.234000	0.73211	0.528000	0.53228	TTT	-	NULL		0.448	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	protein_coding	OTTHUMT00000409771.1	A	NM_003920		55110951	-1	no_errors	NM_003920	genbank	human	validated	54_36p	missense	SNP	1.000	C
OR4C11	219429	genome.wustl.edu	37	11	55371420	55371420	+	Missense_Mutation	SNP	C	C	A	rs555433759|rs141497167		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:55371420C>A	ENST00000302231.4	-	1	454	c.430G>T	c.(430-432)Gtt>Ttt	p.V144F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGGCAAGAACAATCAGGATG	0.458																																																0			11						C	PHE/VAL	1,4351		0,1,2175	82.0	69.0	73.0		430	-2.7	0.0	11	dbSNP_134	73	0,8018		0,0,4009	no	missense	OR4C11	NM_001004700.2	50	0,1,6184	AA,AC,CC		0.0,0.023,0.0081	benign	144/311	55371420	1,12369	2176	4009	6185	55127996	SO:0001583	missense	219429			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.430G>T	11.37:g.55371420C>A	ENSP00000306651:p.Val144Phe		55127996	B9EIL4|Q8NGL8	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V144F	ENST00000302231.4	37	c.430	CCDS31503.1	11	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.497426	0.01001	2.3E-4	0.0	ENSG00000172188	ENST00000302231	T	0.38722	1.12	4.34	-2.7	0.06004	GPCR, rhodopsin-like superfamily (1);	1.188180	0.06487	U	0.733841	T	0.35970	0.0950	L	0.41356	1.27	0.09310	N	1	P	0.44006	0.824	P	0.46850	0.529	T	0.31752	-0.9932	10	0.10636	T	0.68	.	9.3118	0.37910	0.0:0.2219:0.0:0.7781	.	144	Q6IEV9	OR4CB_HUMAN	F	144	ENSP00000306651:V144F	ENSP00000306651:V144F	V	-	1	0	OR4C11	55127996	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.615000	0.00414	-0.567000	0.06046	-0.362000	0.07510	GTT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.458	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	protein_coding	OTTHUMT00000383268.1	C	NM_001004700		55127996	-1	no_errors	NM_001004700	genbank	human	provisional	54_36p	missense	SNP	0.000	A
TCF12	6938	genome.wustl.edu	37	15	57545612	57545612	+	Silent	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:57545612C>A	ENST00000267811.5	+	15	1645	c.1341C>A	c.(1339-1341)ctC>ctA	p.L447L	TCF12_ENST00000452095.2_Silent_p.L467L|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559710.1_Silent_p.L81L|TCF12_ENST00000438423.2_Silent_p.L471L|TCF12_ENST00000333725.5_Silent_p.L471L|TCF12_ENST00000343827.3_Silent_p.L277L|TCF12_ENST00000559703.1_Silent_p.L105L|TCF12_ENST00000537840.1_Silent_p.L211L|TCF12_ENST00000543579.1_Silent_p.L301L|TCF12_ENST00000557843.1_Silent_p.L447L	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	447					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTGGAAGCCTCAATTCAAACT	0.433			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0			15											153.0	127.0	136.0					15																	57545612		2192	4292	6484	55332904	SO:0001819	synonymous_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1341C>A	15.37:g.57545612C>A			55332904	Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH	p.L471	ENST00000267811.5	37	c.1413	CCDS10159.1	15																																																																																			-	NULL		0.433	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	protein_coding	OTTHUMT00000255069.3	C	NM_003205		55332904	+1	no_errors	NM_207036	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
KIAA1211	57482	genome.wustl.edu	37	4	57193865	57193865	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:57193865G>A	ENST00000504228.1	+	9	3702	c.3597G>A	c.(3595-3597)agG>agA	p.R1199R	KIAA1211_ENST00000264229.6_Silent_p.R1199R|KIAA1211_ENST00000541073.1_Silent_p.R1192R			Q6ZU35	K1211_HUMAN	KIAA1211	1199										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACCAAGAGGTTTTCCACCC	0.517																																																0			4											108.0	112.0	111.0					4																	57193865		1833	4082	5915	56888622	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3597G>A	4.37:g.57193865G>A			56888622	Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.R1199	ENST00000504228.1	37	c.3597	CCDS43230.1	4																																																																																			-	NULL		0.517	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	G	NM_020722		56888622	+1	no_errors	NM_020722	genbank	human	validated	54_36p	silent	SNP	0.999	A
TUBB1	81027	genome.wustl.edu	37	20	57599631	57599631	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr20:57599631G>T	ENST00000217133.1	+	4	1418	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGGTCTCTGAGCATTTCTCAG	0.512																																																0			20											52.0	48.0	49.0					20																	57599631		2203	4300	6503	57033026	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.1149G>T	20.37:g.57599631G>T	ENSP00000217133:p.Glu383Asp		57033026		Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C	p.E383D	ENST00000217133.1	37	c.1149	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390124	0.42410	.	.	ENSG00000101162	ENST00000217133	D	0.83992	-1.79	5.54	4.53	0.55603	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.136559	0.64402	D	0.000003	T	0.68247	0.2980	N	0.20986	0.625	0.54753	D	0.999983	B	0.02656	0.0	B	0.09377	0.004	T	0.66472	-0.5915	10	0.87932	D	0	.	3.5787	0.07943	0.092:0.1693:0.5631:0.1756	.	383	Q9H4B7	TBB1_HUMAN	D	383	ENSP00000217133:E383D	ENSP00000217133:E383D	E	+	3	2	TUBB1	57033026	1.000000	0.71417	0.981000	0.43875	0.797000	0.45037	2.557000	0.45871	2.614000	0.88457	0.655000	0.94253	GAG	-	superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C		0.512	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	protein_coding	OTTHUMT00000079903.1	G	NM_030773		57033026	+1	no_errors	NM_030773	genbank	human	validated	54_36p	missense	SNP	1.000	T
EDN3	1908	genome.wustl.edu	37	20	57896087	57896087	+	Silent	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr20:57896087T>C	ENST00000337938.2	+	3	767	c.381T>C	c.(379-381)taT>taC	p.Y127Y	EDN3_ENST00000395654.3_Silent_p.Y127Y|EDN3_ENST00000371025.3_Silent_p.Y127Y|EDN3_ENST00000371028.2_Silent_p.Y127Y|EDN3_ENST00000311585.7_Silent_p.Y127Y	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	127			Y -> C (in WS4B). {ECO:0000269|PubMed:12189494}.		blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGGTGCCCTATGGACTGTCCA	0.617																																																0			20											86.0	74.0	78.0					20																	57896087		2203	4300	6503	57329482	SO:0001819	synonymous_variant	1908			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.381T>C	20.37:g.57896087T>C			57329482	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	HMMPfam_Endothelin,HMMSmart_SM00272,PatternScan_ENDOTHELIN	p.Y127	ENST00000337938.2	37	c.381	CCDS13477.1	20																																																																																			-	NULL		0.617	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	protein_coding	OTTHUMT00000079919.2	T	NM_000114		57329482	+1	no_errors	NM_000114	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
OR1S2	219958	genome.wustl.edu	37	11	57970764	57970764	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:57970764A>C	ENST00000302592.6	-	1	889	c.890T>G	c.(889-891)aTg>aGg	p.M297R		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GGGGTTCATCATGGGTGTCAC	0.463																																																0			11											158.0	150.0	152.0					11																	57970764		2201	4296	6497	57727340	SO:0001583	missense	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.890T>G	11.37:g.57970764A>C	ENSP00000305469:p.Met297Arg		57727340	Q6IFG5|Q96R85	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.M297R	ENST00000302592.6	37	c.890	CCDS31545.1	11	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772079	0.49680	.	.	ENSG00000197887	ENST00000302592	T	0.38887	1.11	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.71459	0.3342	H	0.97516	4.02	0.30896	N	0.729798	D	0.69078	0.997	D	0.62955	0.909	T	0.78989	-0.1986	10	0.87932	D	0	.	8.8146	0.34987	0.9108:0.0:0.0892:0.0	.	297	Q8NGQ3	OR1S2_HUMAN	R	297	ENSP00000305469:M297R	ENSP00000305469:M297R	M	-	2	0	OR1S2	57727340	0.029000	0.19370	1.000000	0.80357	0.986000	0.74619	2.562000	0.45914	2.119000	0.64992	0.533000	0.62120	ATG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	protein_coding	OTTHUMT00000394703.2	A	NM_001004459		57727340	-1	no_errors	NM_001004459	genbank	human	provisional	54_36p	missense	SNP	0.271	C
KIR3DL1	3811	genome.wustl.edu	37	19	55331309	55331309	+	Missense_Mutation	SNP	G	G	A	rs375468097		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr19:55331309G>A	ENST00000391728.4	+	4	530	c.497G>A	c.(496-498)cGc>cAc	p.R166H	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R71H|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R166H|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R166H|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R166H|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R166H	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	166	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GACCCCTCACGCCTCGTTGGA	0.507																																																0			19						G	HIS/ARG	0,4374		0,0,2187	175.0	162.0	167.0		497	0.2	0.0	19		167	1,8383		0,1,4191	no	missense	KIR3DL1	NM_013289.2	29	0,1,6378	AA,AG,GG		0.0119,0.0,0.0078		166/445	55331309	1,12757	2187	4192	6379	60023121	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.497G>A	19.37:g.55331309G>A	ENSP00000375608:p.Arg166His		60023121	O43473|Q14946|Q16541	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig	p.R166H	ENST00000391728.4	37	c.497	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	0.007	-1.971643	0.00457	0.0	1.19E-4	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07	1.3	0.189	0.15119	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01800	0.0057	N	0.16862	0.45	0.09310	N	1	B;B;B;B	0.13594	0.006;0.006;0.008;0.003	B;B;B;B	0.12156	0.003;0.007;0.004;0.006	T	0.47812	-0.9088	9	0.02654	T	1	.	3.1027	0.06331	0.7123:0.0:0.2877:0.0	.	166;71;166;166	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	H	166;166;166;144;166;166;71	ENSP00000384528:R166H;ENSP00000443350:R166H;ENSP00000442355:R166H;ENSP00000375608:R166H;ENSP00000326868:R166H;ENSP00000350901:R71H	ENSP00000326868:R166H	R	+	2	0	KIR3DL1	60023121	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.997000	0.03705	0.019000	0.15079	0.184000	0.17185	CGC	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	protein_coding	OTTHUMT00000141238.1	G	NM_013289		60023121	+1	no_errors	NM_013289	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
AC018462.2	0	genome.wustl.edu	37	2	62373885	62373885	+	RNA	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:62373885C>G	ENST00000425966.2	-	0	74				AC018462.2_ENST00000421323.1_RNA																							CTTGTGGTTACTGACCCCAGG	0.562																																																0			2																																								62227389			729209																															2.37:g.62373885C>G			62227389		RNA	SNP	-	NULL	ENST00000425966.2	37	NULL		2																																																																																			-	-		0.562	AC018462.2-001	KNOWN	basic	antisense	LOC729209	antisense	OTTHUMT00000326542.3	C			62227389	+1	pseudogene	XR_015929	genbank	human	model	54_36p	rna	SNP	1.000	G
WDR89	112840	genome.wustl.edu	37	14	64065625	64065625	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:64065625A>G	ENST00000394942.2	-	2	1124	c.1036T>C	c.(1036-1038)Tta>Cta	p.L346L	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Silent_p.L346L	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	346										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTCCAAAGTAACAACTGTGCA	0.433																																																0			14											135.0	121.0	126.0					14																	64065625		2203	4300	6503	63135378	SO:0001819	synonymous_variant	112840			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.1036T>C	14.37:g.64065625A>G			63135378		Silent	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.L346	ENST00000394942.2	37	c.1036	CCDS9759.1	14																																																																																			-	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40		0.433	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	WDR89	protein_coding	OTTHUMT00000411879.2	A	NM_080666		63135378	-1	no_errors	NM_001008726	genbank	human	validated	54_36p	silent	SNP	0.993	G
SYNE2	23224	genome.wustl.edu	37	14	64625437	64625437	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:64625437T>G	ENST00000344113.4	+	86	16099	c.15887T>G	c.(15886-15888)tTc>tGc	p.F5296C	SYNE2_ENST00000357395.3_Missense_Mutation_p.F1681C|SYNE2_ENST00000554584.1_Missense_Mutation_p.F5213C|SYNE2_ENST00000394768.2_Missense_Mutation_p.F1681C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.F1930C|SYNE2_ENST00000358025.3_Missense_Mutation_p.F5296C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5296					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAATCCGATTCTGGTACTGC	0.438																																																0			14											134.0	116.0	122.0					14																	64625437		2203	4300	6503	63695190	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15887T>G	14.37:g.64625437T>G	ENSP00000341781:p.Phe5296Cys		63695190	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH	p.F5296C	ENST00000344113.4	37	c.15887	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772886	0.49680	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.77	5.77	0.91146	.	0.217598	0.32736	N	0.005713	T	0.47451	0.1446	L	0.56769	1.78	0.21897	N	0.999483	D;D;D;P;D	0.69078	0.967;0.997;0.996;0.944;0.989	P;D;P;P;P	0.63192	0.77;0.912;0.8;0.593;0.846	T	0.49263	-0.8958	10	0.38643	T	0.18	.	5.6809	0.17776	0.1507:0.0791:0.0:0.7702	.	1681;5219;5213;5296;5296	Q8WXH0-7;F8WAA3;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	C	5296;1681;5296;5213;5219;1930;1681	ENSP00000350719:F5296C;ENSP00000349969:F1681C;ENSP00000341781:F5296C;ENSP00000452570:F5213C;ENSP00000450831:F1930C;ENSP00000378249:F1681C	ENSP00000261678:F5219C	F	+	2	0	SYNE2	63695190	0.069000	0.21087	0.092000	0.20876	0.995000	0.86356	0.949000	0.29109	2.326000	0.78906	0.528000	0.53228	TTC	-	HMMSmart_SPEC		0.438	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	T	NM_182914		63695190	+1	no_errors	NM_182914	genbank	human	validated	54_36p	missense	SNP	0.986	G
PIK3R1	5295	genome.wustl.edu	37	5	67593405	67593405	+	Silent	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:67593405A>C	ENST00000521381.1	+	16	2767	c.2151A>C	c.(2149-2151)ccA>ccC	p.P717P	PIK3R1_ENST00000396611.1_Silent_p.P725P|PIK3R1_ENST00000523872.1_Silent_p.P354P|PIK3R1_ENST00000320694.8_Silent_p.P417P|PIK3R1_ENST00000521657.1_Silent_p.P717P|PIK3R1_ENST00000336483.5_Silent_p.P447P|PIK3R1_ENST00000274335.5_Silent_p.P717P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	717	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TAGCCTACCCAGTATATGCAC	0.507			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																													Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)	5											238.0	233.0	235.0					5																	67593405		2203	4300	6503	67629161	SO:0001819	synonymous_variant	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2151A>C	5.37:g.67593405A>C			67629161	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2	p.P717	ENST00000521381.1	37	c.2151	CCDS3993.1	5																																																																																			-	superfamily_SH2 domain		0.507	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	protein_coding	OTTHUMT00000254013.2	A	NM_181504		67629161	+1	no_errors	NM_181523	genbank	human	reviewed	54_36p	silent	SNP	0.748	C
CPA6	57094	genome.wustl.edu	37	8	68419060	68419060	+	Missense_Mutation	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:68419060A>T	ENST00000297770.4	-	6	813	c.598T>A	c.(598-600)Tgg>Agg	p.W200R	CPA6_ENST00000518549.1_Missense_Mutation_p.W200R|CPA6_ENST00000297769.4_Missense_Mutation_p.W52R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	200						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGACCAATCCATTCTCTTGCA	0.418																																																0			8											173.0	149.0	157.0					8																	68419060		2203	4300	6503	68581614	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.598T>A	8.37:g.68419060A>T	ENSP00000297770:p.Trp200Arg		68581614	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_2	p.W200R	ENST00000297770.4	37	c.598	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226390	0.79576	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.13657	2.57;2.57;2.57	5.31	5.31	0.75309	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	H	0.98388	4.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.73780	-0.3875	10	0.87932	D	0	.	14.2483	0.66001	1.0:0.0:0.0:0.0	.	200;52;200	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	R	52;200;200	ENSP00000297769:W52R;ENSP00000297770:W200R;ENSP00000431112:W200R	ENSP00000297769:W52R	W	-	1	0	CPA6	68581614	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.929000	0.87595	2.003000	0.58678	0.533000	0.62120	TGG	-	superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14		0.418	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	protein_coding	OTTHUMT00000379296.2	A	NM_020361		68581614	-1	no_errors	NM_020361	genbank	human	validated	54_36p	missense	SNP	1.000	T
LMOD3	56203	genome.wustl.edu	37	3	69171426	69171426	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr3:69171426C>G	ENST00000420581.2	-	1	291	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	LMOD3_ENST00000475434.1_Missense_Mutation_p.E38Q|LMOD3_ENST00000489031.1_Missense_Mutation_p.E38Q	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	38						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACTTCCATTTCCGACTGCAGT	0.443																																																0			3											69.0	66.0	67.0					3																	69171426		1878	4105	5983	69254116	SO:0001583	missense	56203			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.112G>C	3.37:g.69171426C>G	ENSP00000414670:p.Glu38Gln		69254116	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	HMMPfam_Tropomodulin,superfamily_RNI-like,HMMPfam_WH2	p.E38Q	ENST00000420581.2	37	c.112	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575078	0.86542	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.32515	1.45;1.45;1.45	5.59	4.71	0.59529	.	0.092891	0.64402	D	0.000001	T	0.56834	0.2012	M	0.82056	2.57	0.58432	D	0.999998	D	0.89917	1.0	D	0.72338	0.977	T	0.62511	-0.6839	10	0.59425	D	0.04	-33.2254	14.1954	0.65667	0.0:0.9282:0.0:0.0718	.	38	Q0VAK6	LMOD3_HUMAN	Q	38	ENSP00000414670:E38Q;ENSP00000417210:E38Q;ENSP00000418645:E38Q	ENSP00000414670:E38Q	E	-	1	0	LMOD3	69254116	1.000000	0.71417	0.877000	0.34402	0.982000	0.71751	7.818000	0.86416	1.367000	0.46095	0.591000	0.81541	GAA	-	NULL		0.443	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	protein_coding	OTTHUMT00000352138.1	C	XM_067529		69254116	-1	no_errors	NM_198271	genbank	human	validated	54_36p	missense	SNP	0.986	G
FGF4	2249	genome.wustl.edu	37	11	69588088	69588088	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:69588088G>T	ENST00000168712.1	-	3	928	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	AP001888.1_ENST00000602104.1_5'Flank|FGF4_ENST00000538040.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	204					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	CACAGCCTGGGGAGGAAGTGG	0.607																																																0			11											126.0	113.0	117.0					11																	69588088		2200	4294	6494	69297269	SO:0001583	missense	2249			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"""Endogenous ligands"""	3682	protein-coding gene	gene with protein product	"""human stomach cancer, transforming factor from FGF-related oncogene"", ""kaposi sarcoma oncogene"", ""transforming protein KS3"""	164980	"""heparin secretory transforming protein 1"""	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.610C>A	11.37:g.69588088G>T	ENSP00000168712:p.Pro204Thr		69297269	B7U994	Missense_Mutation	SNP	superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF	p.P204T	ENST00000168712.1	37	c.610	CCDS8194.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.149233	0.94645	.	.	ENSG00000075388	ENST00000168712	D	0.83755	-1.76	5.81	5.81	0.92471	.	0.000000	0.47455	D	0.000232	D	0.92341	0.7570	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92014	0.5620	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	204	P08620	FGF4_HUMAN	T	204	ENSP00000168712:P204T	.	P	-	1	0	FGF4	69297269	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.026000	0.93700	2.746000	0.94184	0.655000	0.94253	CCC	-	superfamily_Cytok_IL1_like,HMMSmart_FGF		0.607	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF4	protein_coding	OTTHUMT00000396834.2	G	NM_002007		69297269	-1	no_errors	NM_002007	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
HYDIN	54768	genome.wustl.edu	37	16	71022301	71022301	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr16:71022301C>G	ENST00000393567.2	-	26	4129	c.3979G>C	c.(3979-3981)Gaa>Caa	p.E1327Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1327					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTACTTCTTCTATCCCAATG	0.428																																																0			16											1.0	1.0	1.0					16																	71022301		277	1351	1628	69579802	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3979G>C	16.37:g.71022301C>G	ENSP00000377197:p.Glu1327Gln		69579802	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.E1326Q	ENST00000393567.2	37	c.3976	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612004	0.46631	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00995	5.46	4.76	4.76	0.60689	.	0.000000	0.33290	U	0.005075	T	0.03220	0.0094	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68903	-0.5286	10	0.19147	T	0.46	.	13.6053	0.62044	0.0:1.0:0.0:0.0	.	1326	F8WD23	.	Q	1327;1326	ENSP00000377197:E1327Q	ENSP00000313052:E1326Q	E	-	1	0	HYDIN	69579802	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.956000	0.56722	2.344000	0.79699	0.511000	0.50034	GAA	-	NULL		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	C			69579802	-1	no_errors	NM_032821	genbank	human	validated	54_36p	missense	SNP	1.000	G
TRHDE	29953	genome.wustl.edu	37	12	72680492	72680492	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:72680492C>T	ENST00000261180.4	+	2	907	c.811C>T	c.(811-813)Cat>Tat	p.H271Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	271					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCGCCTACACATGCCAGAAA	0.353																																																0			12											134.0	124.0	128.0					12																	72680492		2203	4300	6503	70966759	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.811C>T	12.37:g.72680492C>T	ENSP00000261180:p.His271Tyr		70966759	A5PL19|Q6UWJ4	Missense_Mutation	SNP	superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE	p.H271Y	ENST00000261180.4	37	c.811	CCDS9004.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.716574|4.716574	0.89205|0.89205	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|T	0.04454|0.03152	3.62|4.03	5.83|5.83	5.83|5.83	0.93111|0.93111	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.07324|0.07324	0.0185|0.0185	N|N	0.16708|0.16708	0.43|0.43	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.60609|.	0.877|.	T|T	0.38457|0.38457	-0.9660|-0.9660	10|7	0.42905|0.66056	T|D	0.14|0.02	.|.	20.1338|20.1338	0.98010|0.98010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	271|.	Q9UKU6|.	TRHDE_HUMAN|.	Y|I	271|36	ENSP00000261180:H271Y|ENSP00000447822:T36I	ENSP00000261180:H271Y|ENSP00000447822:T36I	H|T	+|+	1|2	0|0	TRHDE|TRHDE	70966759|70966759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	CAT|ACA	-	superfamily_SSF63737,HMMPfam_Peptidase_M1		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	protein_coding	OTTHUMT00000405380.1	C	NM_013381		70966759	+1	no_errors	NM_013381	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TSHZ1	10194	genome.wustl.edu	37	18	72999923	72999923	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr18:72999923A>G	ENST00000580243.1	+	2	2909	c.2561A>G	c.(2560-2562)aAg>aGg	p.K854R	TSHZ1_ENST00000322038.5_Missense_Mutation_p.K809R			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	854					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGACGCCCAAGTCCTCCACG	0.602																																																0			18											67.0	61.0	63.0					18																	72999923		2203	4300	6503	71128911	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2561A>G	18.37:g.72999923A>G	ENSP00000464391:p.Lys854Arg		71128911	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00389,HMMPfam_Homeobox	p.K809R	ENST00000580243.1	37	c.2426		18	.	.	.	.	.	.	.	.	.	.	A	10.51	1.369694	0.24771	.	.	ENSG00000179981	ENST00000322038	T	0.18338	2.22	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.81802	2.56	0.36724	D	0.88136	D	0.69078	0.997	D	0.75020	0.985	T	0.54964	-0.8214	10	0.59425	D	0.04	-35.9787	14.9319	0.70923	1.0:0.0:0.0:0.0	.	854	Q6ZSZ6	TSH1_HUMAN	R	809	ENSP00000323584:K809R	ENSP00000323584:K809R	K	+	2	0	TSHZ1	71128911	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.910000	0.92685	2.466000	0.83321	0.561000	0.74099	AAG	-	NULL		0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	protein_coding	OTTHUMT00000444913.1	A	NM_005786		71128911	+1	no_errors	NM_005786	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TNNI3K	51086	genome.wustl.edu	37	1	75005960	75005960	+	Missense_Mutation	SNP	G	G	T	rs201613442		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:75005960G>T	ENST00000326637.3	+	24	2445	c.2394G>T	c.(2392-2394)atG>atT	p.M798I	TNNI3K_ENST00000465473.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.M912I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.M899I	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.M798I(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGGAGGAGATGAAAAGAAGTC	0.353																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	1											98.0	97.0	98.0					1																	75005960		2203	4299	6502	74778548	SO:0001583	missense	51086			AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2394G>T	1.37:g.75005960G>T	ENSP00000322251:p.Met798Ile		74778548		Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP	p.M798I	ENST00000326637.3	37	c.2394	CCDS664.1	1	.	.	.	.	.	.	.	.	.	.	G	8.780	0.927949	0.18056	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.73681	-0.77;-0.77;-0.75	5.25	4.32	0.51571	.	0.405801	0.29185	N	0.012900	T	0.39911	0.1096	N	0.14661	0.345	0.32947	D	0.519177	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21075	-1.0256	10	0.30854	T	0.27	.	12.7874	0.57514	0.0:0.0:0.8357:0.1643	.	798;899	Q59H18;Q59H18-1	TNI3K_HUMAN;.	I	899;899;798	ENSP00000450895:M899I;ENSP00000359928:M899I;ENSP00000322251:M798I	ENSP00000322251:M798I	M	+	3	0	RP11-653A5.2;AC093158.1	74778548	1.000000	0.71417	0.700000	0.30305	0.269000	0.26545	5.928000	0.70088	1.554000	0.49487	0.655000	0.94253	ATG	-	NULL		0.353	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3K	protein_coding	OTTHUMT00000026432.1	G	NM_015978		74778548	+1	no_errors	NM_015978	genbank	human	validated	54_36p	missense	SNP	0.932	T
ZFHX4	79776	genome.wustl.edu	37	8	77765594	77765594	+	Missense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:77765594C>A	ENST00000521891.2	+	10	6885	c.6437C>A	c.(6436-6438)gCt>gAt	p.A2146D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2101D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2120D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2101D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCTGAGGGCTTATTTTGAC	0.408										HNSCC(33;0.089)																																						0			8											44.0	44.0	44.0					8																	77765594		1851	4080	5931	77928149	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6437C>A	8.37:g.77765594C>A	ENSP00000430497:p.Ala2146Asp		77928149	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.A2101D	ENST00000521891.2	37	c.6302	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267599	0.59540	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	3.92	3.92	0.45320	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.44097	U	0.000482	D	0.95443	0.8520	L	0.33485	1.01	0.80722	D	1	P;D;P	0.53619	0.918;0.961;0.9	P;P;P	0.56700	0.66;0.804;0.529	D	0.94079	0.7342	10	0.26408	T	0.33	.	16.0604	0.80836	0.0:1.0:0.0:0.0	.	2101;2101;2146	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	D	2146;2130;2101;2101;2120	ENSP00000430497:A2146D;ENSP00000399605:A2101D;ENSP00000050961:A2101D;ENSP00000430848:A2120D	ENSP00000050961:A2101D	A	+	2	0	ZFHX4	77928149	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.827000	0.69300	2.200000	0.70718	0.455000	0.32223	GCT	-	superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox		0.408	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77928149	+1	no_errors	NM_024721	genbank	human	validated	54_36p	missense	SNP	0.998	A
SLC28A1	9154	genome.wustl.edu	37	15	85438287	85438287	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr15:85438287C>T	ENST00000286749.3	+	5	484	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	SLC28A1_ENST00000538177.1_Silent_p.L132L|SLC28A1_ENST00000537216.1_Silent_p.L132L|SLC28A1_ENST00000394573.1_Silent_p.L132L|SLC28A1_ENST00000338602.2_Silent_p.L132L|SLC28A1_ENST00000537703.1_Silent_p.L54L|SLC28A1_ENST00000537624.1_Silent_p.L132L			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	132					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GAAACGGCTTCTGGGGCCAAA	0.632																																																0			15											60.0	62.0	61.0					15																	85438287		2203	4299	6502	83239291	SO:0001819	synonymous_variant	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.394C>T	15.37:g.85438287C>T			83239291	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C	p.L132	ENST00000286749.3	37	c.394	CCDS10334.1	15																																																																																			-	NULL		0.632	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	protein_coding	OTTHUMT00000308998.2	C			83239291	+1	no_errors	NM_004213	genbank	human	validated	54_36p	silent	SNP	0.081	T
SPATA31D1	389763	genome.wustl.edu	37	9	84605812	84605812	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:84605812C>T	ENST00000344803.2	+	4	474	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	143					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TATCCAGCAACTGCTGTCTTG	0.557																																																0			9											129.0	124.0	126.0					9																	84605812		1994	4163	6157	83795632	SO:0001819	synonymous_variant	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.427C>T	9.37:g.84605812C>T			83795632		Silent	SNP	NULL	p.L143	ENST00000344803.2	37	c.427	CCDS47986.1	9																																																																																			-	NULL		0.557	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ46321	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		83795632	+1	no_errors	NM_001001670	genbank	human	validated	54_36p	silent	SNP	0.000	T
LRRIQ1	84125	genome.wustl.edu	37	12	85638579	85638579	+	Missense_Mutation	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:85638579A>G	ENST00000393217.2	+	27	5090	c.5029A>G	c.(5029-5031)Agc>Ggc	p.S1677G	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1677										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACTTGTAAGCAGAGAAGA	0.398																																																0			12											111.0	100.0	103.0					12																	85638579		1849	4114	5963	84162710	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5029A>G	12.37:g.85638579A>G	ENSP00000376910:p.Ser1677Gly		84162710	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.S1677G	ENST00000393217.2	37	c.5029	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	18.26	3.583913	0.65992	.	.	ENSG00000133640	ENST00000393217	T	0.55930	0.49	5.9	5.9	0.94986	.	.	.	.	.	T	0.57257	0.2041	N	0.19112	0.55	0.33306	D	0.56543	D	0.76494	0.999	D	0.65443	0.935	T	0.67465	-0.5664	9	0.46703	T	0.11	.	14.8955	0.70642	1.0:0.0:0.0:0.0	.	1677	Q96JM4	LRIQ1_HUMAN	G	1677	ENSP00000376910:S1677G	ENSP00000376910:S1677G	S	+	1	0	LRRIQ1	84162710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.415000	0.73328	2.254000	0.74563	0.460000	0.39030	AGC	-	NULL		0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	A	NM_032165		84162710	+1	no_errors	NM_001079910	genbank	human	validated	54_36p	missense	SNP	1.000	G
SH2D6	284948	genome.wustl.edu	37	2	85662568	85662568	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:85662568G>A	ENST00000340326.2	+	2	362	c.201G>A	c.(199-201)tcG>tcA	p.S67S	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Intron|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	67	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CTTGGTACTCGGGGAACTGTG	0.567																																																0			2											108.0	108.0	108.0					2																	85662568		2203	4300	6503	85516079	SO:0001819	synonymous_variant	284948			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.201G>A	2.37:g.85662568G>A			85516079	A6ND14|Q6R306	Silent	SNP	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2	p.S67	ENST00000340326.2	37	c.201	CCDS1976.1	2																																																																																			-	superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2		0.567	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D6	protein_coding	OTTHUMT00000252493.2	G	NM_198482		85516079	+1	no_errors	NM_198482	genbank	human	provisional	54_36p	silent	SNP	0.032	A
REXO1L8P	392242	genome.wustl.edu	37	8	86556493	86556493	+	IGR	SNP	C	C	T	rs532711226	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:86556493C>T								RP11-317J10.4 (103753 upstream) : REXO1L1 (12201 downstream)																							CTGGGGGCACCGCCGGACCCC	0.662																																																0			8																																								86743745	SO:0001628	intergenic_variant	392242																															8.37:g.86556493C>T			86743745		RNA	SNP	-	NULL		37	NULL		8																																																																																			-	-	0	0.662					LOC392242			C			86743745	-1	pseudogene	XR_041124	genbank	human	model	54_36p	rna	SNP	0.000	T
GJA10	84694	genome.wustl.edu	37	6	90604421	90604421	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:90604421G>C	ENST00000369352.1	+	1	234	c.234G>C	c.(232-234)tgG>tgC	p.W78C		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	78					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCAGGTTCTGGGTTTTACAGA	0.453																																																0			6											150.0	119.0	130.0					6																	90604421		2203	4300	6503	90661142	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.234G>C	6.37:g.90604421G>C	ENSP00000358358:p.Trp78Cys		90661142	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2	p.W78C	ENST00000369352.1	37	c.234	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225906	0.58668	.	.	ENSG00000135355	ENST00000369352	D	0.99545	-6.13	4.8	3.93	0.45458	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97567	1.0102	10	0.87932	D	0	.	13.0887	0.59156	0.0774:0.0:0.9226:0.0	.	78	Q969M2	CXA10_HUMAN	C	78	ENSP00000358358:W78C	ENSP00000358358:W78C	W	+	3	0	GJA10	90661142	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.621000	0.83083	1.265000	0.44215	0.563000	0.77884	TGG	-	HMMPfam_Connexin		0.453	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	protein_coding	OTTHUMT00000041505.1	G	NM_032602		90661142	+1	no_errors	NM_032602	genbank	human	validated	54_36p	missense	SNP	1.000	C
USP44	84101	genome.wustl.edu	37	12	95907666	95907666	+	IGR	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:95907666G>C	ENST00000258499.3	-	0	4022				METAP2_ENST00000551840.1_Missense_Mutation_p.G474R|METAP2_ENST00000550777.1_Missense_Mutation_p.G439R|METAP2_ENST00000546753.1_Missense_Mutation_p.G452R|METAP2_ENST00000323666.5_Missense_Mutation_p.G475R|METAP2_ENST00000261220.9_Missense_Mutation_p.G452R	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44						mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGTCAGCAGAGGAGATGACTA	0.378																																																0			12											123.0	106.0	112.0					12																	95907666		2203	4300	6503	94431797	SO:0001628	intergenic_variant	10988			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7			12.37:g.95907666G>C			94431797	B2RDW3	Missense_Mutation	SNP	"superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_MAP_2,superfamily_""Winged helix"" DNA-binding domain"	p.G475R	ENST00000258499.3	37	c.1423	CCDS9053.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321683	0.81580	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000550777;ENST00000551840	.	.	.	5.48	5.48	0.80851	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.94321	0.7553	9	0.87932	D	0	-11.6801	19.35	0.94379	0.0:0.0:1.0:0.0	.	452;439;452;474;475	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	R	475;452;452;439;474	.	ENSP00000261220:G452R	G	+	1	0	METAP2	94431797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.572000	0.86782	0.563000	0.77884	GGA	-	superfamily_Creatinase/aminopeptidase		0.378	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP2	protein_coding	OTTHUMT00000408312.1	G	NM_032147		94431797	+1	no_errors	NM_006838	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PON3	5446	genome.wustl.edu	37	7	94989303	94989303	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:94989303A>G	ENST00000265627.5	-	9	1057	c.1047T>C	c.(1045-1047)acT>acC	p.T349T	PON3_ENST00000427422.1_3'UTR|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_3'UTR	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	349					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CACAGTACAGAGTTTTGTGAA	0.383																																																0			7											71.0	70.0	70.0					7																	94989303		2203	4299	6502	94827239	SO:0001819	synonymous_variant	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.1047T>C	7.37:g.94989303A>G			94827239	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	superfamily_Calcium-dependent phosphotriesterase,HMMPfam_Arylesterase	p.T349	ENST00000265627.5	37	c.1047	CCDS5639.1	7																																																																																			-	superfamily_Calcium-dependent phosphotriesterase		0.383	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	protein_coding	OTTHUMT00000333007.1	A	NM_000940		94827239	-1	no_errors	NM_000940	genbank	human	reviewed	54_36p	silent	SNP	0.985	G
DYNC1I1	1780	genome.wustl.edu	37	7	95726831	95726831	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:95726831G>T	ENST00000324972.6	+	17	2057	c.1864G>T	c.(1864-1866)Gcc>Tcc	p.A622S	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A602S|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A605S|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A605S|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A585S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	622					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GACCCGATTTGCCAGGACCCT	0.478																																																0			7											140.0	129.0	133.0					7																	95726831		2203	4300	6503	95564767	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1864G>T	7.37:g.95726831G>T	ENSP00000320130:p.Ala622Ser		95564767	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.A622S	ENST00000324972.6	37	c.1864	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297680	0.40694	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T	0.71461	-0.57;-0.57;-0.56;-0.56;-0.57	5.32	5.32	0.75619	.	0.052573	0.85682	D	0.000000	T	0.53981	0.1830	N	0.11064	0.09	0.80722	D	1	B;B;B;B;B	0.17852	0.01;0.018;0.018;0.024;0.002	B;B;B;B;B	0.21708	0.011;0.036;0.025;0.016;0.015	T	0.49214	-0.8963	10	0.12430	T	0.62	-2.726	19.5787	0.95455	0.0:0.0:1.0:0.0	.	605;602;605;622;585	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	S	605;622;602;585;605	ENSP00000392337:A605S;ENSP00000320130:A622S;ENSP00000398118:A602S;ENSP00000352348:A585S;ENSP00000412444:A605S	ENSP00000320130:A622S	A	+	1	0	DYNC1I1	95564767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.822000	0.86651	2.941000	0.99782	0.655000	0.94253	GCC	-	NULL		0.478	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	protein_coding	OTTHUMT00000333432.1	G	NM_004411		95564767	+1	no_errors	NM_004411	genbank	human	validated	54_36p	missense	SNP	1.000	T
TMTC4	84899	genome.wustl.edu	37	13	101264688	101264688	+	Silent	SNP	C	C	G	rs571739383		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr13:101264688C>G	ENST00000376234.3	-	16	2160	c.1971G>C	c.(1969-1971)tcG>tcC	p.S657S	TMTC4_ENST00000342624.5_Silent_p.S676S|TMTC4_ENST00000328767.5_Silent_p.S546S	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	657						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTTTGCCAACGAGAACATGA	0.453																																																0			13											148.0	138.0	141.0					13																	101264688		2203	4300	6503	100062689	SO:0001819	synonymous_variant	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1971G>C	13.37:g.101264688C>G			100062689	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028,HMMPfam_TPR_1	p.S676	ENST00000376234.3	37	c.2028	CCDS41904.1	13																																																																																			-	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028		0.453	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	protein_coding	OTTHUMT00000045649.2	C	NM_032813		100062689	-1	no_errors	NM_032813	genbank	human	validated	54_36p	silent	SNP	0.026	G
AKT1	207	genome.wustl.edu	37	14	105242058	105242058	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:105242058C>T	ENST00000554581.1	-	4	1846	c.366G>A	c.(364-366)tcG>tcA	p.S122S	AKT1_ENST00000349310.3_Silent_p.S122S|AKT1_ENST00000402615.2_Silent_p.S122S|AKT1_ENST00000554848.1_Silent_p.S122S|AKT1_ENST00000407796.2_Silent_p.S122S|AKT1_ENST00000555528.1_Silent_p.S122S|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000544168.1_Silent_p.S60S|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000554192.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	122					activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TGGGTGAGCCCGACCGGAAGT	0.632		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																		Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0			14											151.0	108.0	123.0					14																	105242058		2203	4300	6503	104313103	SO:0001819	synonymous_variant	207			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.366G>A	14.37:g.105242058C>T			104313103	B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C	p.S122	ENST00000554581.1	37	c.366	CCDS9994.1	14																																																																																			-	NULL		0.632	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	protein_coding	OTTHUMT00000410418.1	C	NM_005163		104313103	-1	no_errors	NM_001014431	genbank	human	reviewed	54_36p	silent	SNP	0.087	T
RPL3P7	642741	genome.wustl.edu	37	6	108325831	108325831	+	IGR	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:108325831G>C								SNORA73 (18848 upstream) : RP1-111B22.3 (25621 downstream)																							CCAGAGGATTGGTGCTCTTGT	0.507																																																0			6																																								108432524	SO:0001628	intergenic_variant	642741																															6.37:g.108325831G>C			108432524		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.507					LOC642741			G			108432524	-1	pseudogene	XR_016455	genbank	human	model	54_36p	rna	SNP	1.000	C
PAPSS1	9061	genome.wustl.edu	37	4	108608329	108608329	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:108608329C>T	ENST00000265174.4	-	4	688	c.416G>A	c.(415-417)cGc>cAc	p.R139H	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	139					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCATTGTTGCGATCCttaaa	0.323																																																0			4											64.0	66.0	65.0					4																	108608329		2203	4300	6503	108827778	SO:0001583	missense	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.416G>A	4.37:g.108608329C>T	ENSP00000265174:p.Arg139His		108827778	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_APS_kinase,superfamily_PUA domain-like,HMMPfam_ATP-sulfurylase,superfamily_Nucleotidylyl transferase	p.R139H	ENST00000265174.4	37	c.416	CCDS3676.1	4	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681409	0.88542	.	.	ENSG00000138801	ENST00000265174	D	0.86432	-2.12	5.22	4.38	0.52667	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96884	0.9648	10	0.87932	D	0	-8.6427	13.7445	0.62868	0.0:0.9253:0.0:0.0747	.	139	O43252	PAPS1_HUMAN	H	139	ENSP00000265174:R139H	ENSP00000265174:R139H	R	-	2	0	PAPSS1	108827778	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.225000	0.78051	1.203000	0.43233	0.555000	0.69702	CGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_APS_kinase		0.323	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS1	protein_coding	OTTHUMT00000253946.2	C			108827778	-1	no_errors	NM_005443	genbank	human	validated	54_36p	missense	SNP	1.000	T
DOCK4	9732	genome.wustl.edu	37	7	111575679	111575679	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:111575679T>C	ENST00000437633.1	-	12	1238	c.982A>G	c.(982-984)Aac>Gac	p.N328D	DOCK4_ENST00000428084.1_Missense_Mutation_p.N328D|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	328					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCTCTGTGTTACACCTATGA	0.408																																																0			7											224.0	219.0	220.0					7																	111575679		2046	4209	6255	111362915	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.982A>G	7.37:g.111575679T>C	ENSP00000404179:p.Asn328Asp		111362915	O14584|O94824|Q8NB45	Missense_Mutation	SNP	superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2	p.N328D	ENST00000437633.1	37	c.982	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448272	0.63178	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03124	4.04;4.04	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	L	0.40543	1.245	0.80722	D	1	B;B;B	0.25850	0.073;0.136;0.087	B;B;B	0.28991	0.04;0.097;0.06	T	0.48822	-0.9001	10	0.15952	T	0.53	.	16.1115	0.81266	0.0:0.0:0.0:1.0	.	328;328;328	A4D0S8;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	D	316;328;328;316;327	ENSP00000410746:N328D;ENSP00000404179:N328D	ENSP00000345432:N316D	N	-	1	0	DOCK4	111362915	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.604000	0.82830	2.207000	0.71202	0.460000	0.39030	AAC	-	NULL		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	protein_coding	OTTHUMT00000338369.4	T	NM_014705		111362915	-1	no_errors	NM_014705	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112174075	112174075	+	Silent	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:112174075C>G	ENST00000457016.1	+	16	3164	c.2784C>G	c.(2782-2784)gcC>gcG	p.A928A	APC_ENST00000508376.2_Silent_p.A928A|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.A928A			P25054	APC_HUMAN	adenomatous polyposis coli	928	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCTCTGCTGCCCATACACATT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											72.0	73.0	73.0					5																	112174075		2202	4300	6502	112201974	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2784C>G	5.37:g.112174075C>G			112201974	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding	p.A928	ENST00000457016.1	37	c.2784	CCDS4107.1	5																																																																																			-	NULL		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	C	NM_000038		112201974	+1	no_errors	NM_000038	genbank	human	reviewed	54_36p	silent	SNP	0.995	G
LPAR1	1902	genome.wustl.edu	37	9	113637852	113637852	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:113637852T>C	ENST00000374431.3	-	5	1327	c.944A>G	c.(943-945)gAc>gGc	p.D315G	LPAR1_ENST00000358883.4_Missense_Mutation_p.D315G|LPAR1_ENST00000541779.1_Missense_Mutation_p.D316G|LPAR1_ENST00000538760.1_Missense_Mutation_p.D316G|LPAR1_ENST00000374430.2_Missense_Mutation_p.D315G	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	315					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CATTTCTTTGTCGCGGTAGGA	0.562																																					NSCLC(115;661 2323 9836 34256)											0			9											172.0	169.0	170.0					9																	113637852		2203	4300	6503	112677673	SO:0001583	missense	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.944A>G	9.37:g.113637852T>C	ENSP00000363553:p.Asp315Gly		112677673	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.D315G	ENST00000374431.3	37	c.944	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562251	0.86335	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51276	-0.8726	10	0.72032	D	0.01	.	15.7905	0.78357	0.0:0.0:0.0:1.0	.	316;316;315	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	G	315;316;315;315;297;316	ENSP00000363553:D315G;ENSP00000445697:D316G;ENSP00000363552:D315G;ENSP00000351755:D315G;ENSP00000440201:D316G	ENSP00000351755:D315G	D	-	2	0	LPAR1	112677673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.012000	0.88631	2.324000	0.78689	0.533000	0.62120	GAC	-	superfamily_Family A G protein-coupled receptor-like		0.562	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	protein_coding	OTTHUMT00000053631.1	T	NM_057159		112677673	-1	no_errors	NM_001401	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TRIM33	51592	genome.wustl.edu	37	1	114948336	114948336	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:114948336G>C	ENST00000358465.2	-	15	2547	c.2464C>G	c.(2464-2466)Ctg>Gtg	p.L822V	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.L822V|TRIM33_ENST00000450349.2_Missense_Mutation_p.L454V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	822					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTAGATGCAGGTTGGTTGAG	0.408			T	RET	papillary thyroid																																		Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0			1											108.0	108.0	108.0					1																	114948336		2203	4300	6503	114749859	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2464C>G	1.37:g.114948336G>C	ENSP00000351250:p.Leu822Val		114749859	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00249,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain	p.L822V	ENST00000358465.2	37	c.2464	CCDS872.1	1	.	.	.	.	.	.	.	.	.	.	G	9.125	1.010037	0.19277	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75367	-0.8;-0.68;-0.93	5.19	2.9	0.33743	.	0.423839	0.24831	N	0.035249	T	0.24547	0.0595	N	0.14661	0.345	0.36289	D	0.856288	B;B;B;B;B	0.11235	0.001;0.001;0.004;0.001;0.001	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.004;0.002	T	0.31336	-0.9947	10	0.02654	T	1	-6.7168	2.8039	0.05422	0.3306:0.2435:0.4259:0.0	.	454;454;17;822;822	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9	.;.;.;.;TRI33_HUMAN	V	822;822;454	ENSP00000351250:L822V;ENSP00000358556:L822V;ENSP00000412077:L454V	ENSP00000351250:L822V	L	-	1	2	TRIM33	114749859	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.394000	0.34509	1.318000	0.45170	0.491000	0.48974	CTG	-	NULL		0.408	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	protein_coding	OTTHUMT00000032854.1	G	NM_015906		114749859	-1	no_errors	NM_015906	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GDAP2	54834	genome.wustl.edu	37	1	118449149	118449149	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:118449149A>G	ENST00000369443.5	-	6	864	c.615T>C	c.(613-615)ttT>ttC	p.F205F	GDAP2_ENST00000369442.3_Silent_p.F205F	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	205	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CAGAGACAGCAAATACTACTT	0.299																																																0			1											112.0	128.0	123.0					1																	118449149		2203	4297	6500	118250672	SO:0001819	synonymous_variant	54834			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.615T>C	1.37:g.118449149A>G			118250672	Q96DZ0	Silent	SNP	superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_CRAL/TRIO domain,HMMSmart_SM00516	p.F205	ENST00000369443.5	37	c.615	CCDS897.1	1																																																																																			-	superfamily_Macro domain-like		0.299	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	protein_coding	OTTHUMT00000033732.2	A	NM_017686		118250672	-1	no_errors	NM_017686	genbank	human	validated	54_36p	silent	SNP	1.000	G
CLIP1	6249	genome.wustl.edu	37	12	122825324	122825324	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr12:122825324A>G	ENST00000540338.1	-	10	2468	c.2427T>C	c.(2425-2427)atT>atC	p.I809I	CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000537178.1_Silent_p.I763I|CLIP1_ENST00000302528.7_Silent_p.I798I|CLIP1_ENST00000358808.2_Silent_p.I798I|CLIP1_ENST00000545889.1_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	809					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CATTCTTTTCAATCTCTAAAT	0.363																																																0			12											106.0	109.0	108.0					12																	122825324		2203	4300	6503	121391277	SO:0001819	synonymous_variant	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2427T>C	12.37:g.122825324A>G			121391277	A0AVD3|Q17RS4|Q29RG0	Silent	SNP	superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1	p.I798	ENST00000540338.1	37	c.2394	CCDS58285.1	12																																																																																			-	NULL		0.363	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	protein_coding	OTTHUMT00000401625.1	A	NM_002956		121391277	-1	no_errors	NM_002956	genbank	human	validated	54_36p	silent	SNP	0.064	G
INPP5F	22876	genome.wustl.edu	37	10	121556262	121556262	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr10:121556262C>G	ENST00000361976.2	+	7	871	c.705C>G	c.(703-705)atC>atG	p.I235M	INPP5F_ENST00000369083.3_Missense_Mutation_p.I235M	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCCCCATGATCCAAGGTTTTG	0.423																																																0			10											133.0	133.0	133.0					10																	121556262		2203	4300	6503	121546252	SO:0001583	missense	22876			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.705C>G	10.37:g.121556262C>G	ENSP00000354519:p.Ile235Met		121546252	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	HMMPfam_Syja_N	p.I235M	ENST00000361976.2	37	c.705	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359633	0.61403	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.63744	-0.06;-0.06	5.8	3.96	0.45880	Synaptojanin, N-terminal (2);	0.047235	0.85682	D	0.000000	T	0.49881	0.1583	L	0.35854	1.095	0.80722	D	1	P	0.43477	0.808	B	0.43445	0.42	T	0.41251	-0.9519	10	0.33940	T	0.23	-10.4062	5.5122	0.16886	0.1303:0.599:0.0:0.2707	.	235	Q9Y2H2	SAC2_HUMAN	M	235	ENSP00000354519:I235M;ENSP00000358079:I235M	ENSP00000354519:I235M	I	+	3	3	INPP5F	121546252	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	0.467000	0.22035	0.806000	0.34183	0.655000	0.94253	ATC	-	HMMPfam_Syja_N		0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	protein_coding	OTTHUMT00000050679.1	C	NM_014937		121546252	+1	no_errors	NM_014937	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SND1	27044	genome.wustl.edu	37	7	127347632	127347632	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr7:127347632G>A	ENST00000354725.3	+	9	1163	c.969G>A	c.(967-969)ctG>ctA	p.L323L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	323	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGCGCAGGCTGAGAATATGGA	0.473																																																0			7											128.0	114.0	119.0					7																	127347632		2203	4300	6503	127134868	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.969G>A	7.37:g.127347632G>A			127134868	Q13122|Q96AG0	Silent	SNP	PatternScan_TNASE_1,superfamily_Staphylococal_nuclease_OB-fold,HMMSmart_SNc,HMMPfam_SNase,PatternScan_TNASE_2,HMMPfam_TUDOR,HMMSmart_TUDOR	p.L323	ENST00000354725.3	37	c.969	CCDS34747.1	7																																																																																			-	superfamily_Staphylococal_nuclease_OB-fold,HMMSmart_SNc,HMMPfam_SNase		0.473	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	protein_coding	OTTHUMT00000349148.1	G	NM_014390		127134868	+1	no_errors	NM_014390	genbank	human	validated	54_36p	silent	SNP	1.000	A
LRRC8A	56262	genome.wustl.edu	37	9	131670180	131670180	+	Missense_Mutation	SNP	A	A	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr9:131670180A>C	ENST00000259324.5	+	3	1260	c.737A>C	c.(736-738)aAg>aCg	p.K246T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.K246T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.K246T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	246					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGTTTGAGAAGGTGAAGAAG	0.572																																																0			9											156.0	145.0	149.0					9																	131670180		2203	4300	6503	130710001	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.737A>C	9.37:g.131670180A>C	ENSP00000259324:p.Lys246Thr		130710001	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1	p.K246T	ENST00000259324.5	37	c.737	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920648	0.33908	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.39229	1.09;1.09;1.09	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	M	0.75615	2.305	0.58432	D	0.999999	D	0.76494	0.999	D	0.65010	0.931	T	0.67791	-0.5579	10	0.87932	D	0	.	14.2958	0.66311	1.0:0.0:0.0:0.0	.	246	Q8IWT6	LRC8A_HUMAN	T	246	ENSP00000361682:K246T;ENSP00000361680:K246T;ENSP00000259324:K246T	ENSP00000259324:K246T	K	+	2	0	LRRC8A	130710001	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.339000	0.96797	1.971000	0.57363	0.460000	0.39030	AAG	-	NULL		0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	protein_coding	OTTHUMT00000054516.2	A	NM_019594		130710001	+1	no_errors	NM_019594	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GPR39	2863	genome.wustl.edu	37	2	133402828	133402828	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:133402828G>A	ENST00000329321.3	+	2	1480	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	337					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTCAGCTCGGTCATCAACC	0.617																																																0			2											113.0	96.0	102.0					2																	133402828		2203	4300	6503	133119298	SO:0001819	synonymous_variant	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1011G>A	2.37:g.133402828G>A			133119298	B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S337	ENST00000329321.3	37	c.1011	CCDS2170.1	2																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.617	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	protein_coding	OTTHUMT00000254582.1	G			133119298	+1	no_errors	NM_001508	genbank	human	validated	54_36p	silent	SNP	0.942	A
NCKAP5	344148	genome.wustl.edu	37	2	133542997	133542997	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:133542997C>T	ENST00000409261.1	-	14	1760	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E463K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	463										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGTGGGGTTCCTTGCAGGGG	0.488																																																0			2											59.0	58.0	58.0					2																	133542997		1890	4116	6006	133259467	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1387G>A	2.37:g.133542997C>T	ENSP00000387128:p.Glu463Lys		133259467	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.E463K	ENST00000409261.1	37	c.1387	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	c	10.06	1.245627	0.22796	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11277	2.79;2.79	5.38	1.16	0.20824	.	0.829033	0.09551	U	0.786864	T	0.07458	0.0188	N	0.24115	0.695	0.09310	N	1	P	0.37276	0.589	B	0.36608	0.229	T	0.34403	-0.9830	10	0.59425	D	0.04	.	5.6213	0.17459	0.0:0.6093:0.1383:0.2524	.	463	O14513	NCKP5_HUMAN	K	463	ENSP00000387128:E463K;ENSP00000380603:E463K	ENSP00000380603:E463K	E	-	1	0	NCKAP5	133259467	0.001000	0.12720	0.003000	0.11579	0.337000	0.28794	1.268000	0.33062	0.292000	0.22492	-0.364000	0.07487	GAA	-	NULL		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAP5	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133259467	-1	no_errors	NM_207363	genbank	human	validated	54_36p	missense	SNP	0.000	T
FAM135B	51059	genome.wustl.edu	37	8	139163858	139163858	+	Missense_Mutation	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:139163858G>T	ENST00000395297.1	-	13	3030	c.2860C>A	c.(2860-2862)Caa>Aaa	p.Q954K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	954										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)			CTTTGGCTTTGCTGGCCTGTT	0.507										HNSCC(54;0.14)																																						0			8											157.0	126.0	136.0					8																	139163858		2203	4300	6503	139233040	SO:0001583	missense	51059			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.2860C>A	8.37:g.139163858G>T	ENSP00000378710:p.Gln954Lys		139233040	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676	p.Q954K	ENST00000395297.1	37	c.2860	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	1.693	-0.503631	0.04261	.	.	ENSG00000147724	ENST00000395297	T	0.12465	2.68	4.69	0.418	0.16429	.	1.657730	0.03521	N	0.220948	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.28839	-1.0031	10	0.05620	T	0.96	.	1.8832	0.03232	0.1039:0.2567:0.3271:0.3123	.	954;954;954	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	K	954	ENSP00000378710:Q954K	ENSP00000276737:Q954K	Q	-	1	0	FAM135B	139233040	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.042000	0.12063	0.404000	0.25506	-0.182000	0.12963	CAA	-	NULL		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	G	NM_015912		139233040	-1	no_errors	NM_015912	genbank	human	validated	54_36p	missense	SNP	0.000	T
COL22A1	169044	genome.wustl.edu	37	8	139609147	139609147	+	Splice_Site	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:139609147T>A	ENST00000303045.6	-	62	4878	c.4432A>T	c.(4432-4434)Acc>Tcc	p.T1478S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.T1458S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1478	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGATACTCACTTTCAAGCTGC	0.502										HNSCC(7;0.00092)																																						0			8											184.0	184.0	184.0					8																	139609147		2203	4300	6503	139678329	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4432+1A>T	8.37:g.139609147T>A			139678329	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen	p.T1478S	ENST00000303045.6	37	c.4432	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251804	0.22880	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.88586	-2.4;-2.29	5.06	0.152	0.14893	.	0.183336	0.29376	U	0.012332	D	0.84014	0.5379	L	0.44542	1.39	0.22684	N	0.998853	P;B	0.34662	0.462;0.02	B;B	0.41374	0.355;0.016	T	0.73248	-0.4043	9	.	.	.	.	8.6981	0.34310	0.0:0.4692:0.0:0.5308	.	1458;1478	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1478;1458;1171	ENSP00000303153:T1478S;ENSP00000387655:T1458S	.	T	-	1	0	COL22A1	139678329	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	0.867000	0.27968	0.012000	0.14892	0.460000	0.39030	ACC	-	NULL		0.502	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	T	XM_291257	Missense_Mutation	139678329	-1	no_errors	NM_152888	genbank	human	validated	54_36p	missense	SNP	0.979	A
PCDHB13	56123	genome.wustl.edu	37	5	140595573	140595573	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:140595573C>T	ENST00000341948.4	+	1	2065	c.1878C>T	c.(1876-1878)acC>acT	p.T626T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	626	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.701																																																0			5											18.0	19.0	19.0					5																	140595573		1701	3570	5271	140575757	SO:0001819	synonymous_variant	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1878C>T	5.37:g.140595573C>T			140575757	A8K9V6	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.T626	ENST00000341948.4	37	c.1878	CCDS4255.1	5																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.701	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	C	NM_018933		140575757	+1	no_errors	NM_018933	genbank	human	reviewed	54_36p	silent	SNP	0.001	T
DIAPH1	1729	genome.wustl.edu	37	5	140956439	140956439	+	Splice_Site	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:140956439C>G	ENST00000398557.4	-	13	1421		c.e13-1		DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000253811.6_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1						actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGAGGTCTACAAGAGAA	0.398																																																0			5											66.0	60.0	62.0					5																	140956439		1845	4084	5929	140936623	SO:0001630	splice_region_variant	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1281-1G>C	5.37:g.140956439C>G			140936623	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	-	e13-1	ENST00000398557.4	37	c.1281-1	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490685	0.64074	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	.	.	.	5.96	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9638	0.64196	0.0:0.9263:0.0:0.0737	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH1	140936623	1.000000	0.71417	0.998000	0.56505	0.728000	0.41692	7.345000	0.79337	1.527000	0.49086	0.655000	0.94253	.	-	-		0.398	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	protein_coding		C	NM_005219	Intron	140936623	-1	no_errors	NM_005219	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G
DENND3	22898	genome.wustl.edu	37	8	142186755	142186755	+	Silent	SNP	G	G	A	rs570647400		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr8:142186755G>A	ENST00000262585.2	+	15	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_ENST00000424248.1_Silent_p.A735A|DENND3_ENST00000519811.1_Silent_p.A867A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	787					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20351	0.0		0.0	False		,,,				2504	0.0															0			8											106.0	98.0	101.0					8																	142186755		2203	4300	6503	142255937	SO:0001819	synonymous_variant	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2361G>A	8.37:g.142186755G>A			142255937	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.A787	ENST00000262585.2	37	c.2361	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024549	0.07589	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.23	-0.288	0.12855	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	-19.3008	0.7227	0.00943	0.4156:0.1541:0.2497:0.1806	.	.	.	.	I	792	.	.	V	+	1	0	DENND3	142255937	0.000000	0.05858	0.138000	0.22173	0.527000	0.34593	-0.515000	0.06290	0.203000	0.20529	-0.143000	0.13931	GTC	-	NULL		0.483	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	protein_coding		G	NM_014957		142255937	+1	no_errors	NM_014957	genbank	human	validated	54_36p	silent	SNP	0.004	A
IDS	3423	genome.wustl.edu	37	X	148568525	148568525	+	Missense_Mutation	SNP	G	G	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chrX:148568525G>C	ENST00000340855.6	-	8	1320	c.1111C>G	c.(1111-1113)Ccg>Gcg	p.P371A	IDS_ENST00000490775.1_5'Flank|IDS_ENST00000541269.1_Missense_Mutation_p.P160A|IDS_ENST00000422081.2_Missense_Mutation_p.P160A|IDS_ENST00000537071.1_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	371					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTGCCTCCGGAAGTGAAGCC	0.468																																																0			X											87.0	79.0	82.0					X																	148568525		2203	4300	6503	148376430	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1111C>G	X.37:g.148568525G>C	ENSP00000339801:p.Pro371Ala		148376430	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2	p.P371A	ENST00000340855.6	37	c.1111	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	g	4.309	0.056590	0.08291	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.99409	-5.6;-5.85	5.27	3.38	0.38709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.727482	0.13916	N	0.353875	D	0.95348	0.8490	N	0.04297	-0.235	0.09310	N	0.999998	B;B	0.12013	0.0;0.005	B;B	0.18263	0.004;0.021	D	0.90504	0.4476	10	0.11794	T	0.64	.	4.7319	0.12968	0.0907:0.2205:0.5616:0.1272	.	281;371	B4DGD7;P22304	.;IDS_HUMAN	A	371;160	ENSP00000339801:P371A;ENSP00000441261:P160A	ENSP00000339801:P371A	P	-	1	0	IDS	148376430	0.018000	0.18449	0.170000	0.22879	0.070000	0.16714	0.684000	0.25364	2.356000	0.79943	0.525000	0.51046	CCG	-	superfamily_Alkaline phosphatase-like		0.468	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	protein_coding	OTTHUMT00000058677.3	G			148376430	-1	no_errors	NM_000202	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152275617	152275617	+	Silent	SNP	A	A	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:152275617A>G	ENST00000368799.1	-	3	11780	c.11745T>C	c.(11743-11745)tcT>tcC	p.S3915S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3915	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)			GTACAGGTGAAGACTGTACAT	0.498									Ichthyosis																																							0			1											117.0	113.0	114.0					1																	152275617		2203	4300	6503	150542241	SO:0001819	synonymous_variant	2312	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.11745T>C	1.37:g.152275617A>G			150542241	Q01720|Q5T583|Q9UC71	Silent	SNP	superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin	p.S3915	ENST00000368799.1	37	c.11745	CCDS30860.1	1																																																																																			-	NULL		0.498	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	A	NM_002016		150542241	-1	no_errors	NM_002016	genbank	human	provisional	54_36p	silent	SNP	0.007	G
SLC36A2	153201	genome.wustl.edu	37	5	150715076	150715076	+	Silent	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:150715076G>A	ENST00000335244.4	-	6	687	c.558C>T	c.(556-558)aaC>aaT	p.N186N	SLC36A2_ENST00000521967.1_Silent_p.N186N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	186					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGGAATAGCAGTTGTTGGTTG	0.522																																																0			5											223.0	208.0	213.0					5																	150715076		2203	4300	6503	150695269	SO:0001819	synonymous_variant	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.558C>T	5.37:g.150715076G>A			150695269	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	HMMPfam_Aa_trans	p.N186	ENST00000335244.4	37	c.558	CCDS4315.1	5																																																																																			-	HMMPfam_Aa_trans		0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	G			150695269	-1	no_errors	NM_181776	genbank	human	validated	54_36p	silent	SNP	0.983	A
AIM2	9447	genome.wustl.edu	37	1	159038365	159038365	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:159038365T>C	ENST00000368130.4	-	3	677	c.389A>G	c.(388-390)cAt>cGt	p.H130R	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	130					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TACCTTAACATGAGGAGAGAC	0.453																																																0			1											240.0	183.0	202.0					1																	159038365		2203	4300	6503	157304989	SO:0001583	missense	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.389A>G	1.37:g.159038365T>C	ENSP00000357112:p.His130Arg		157304989	A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN	p.H130R	ENST00000368130.4	37	c.389	CCDS1181.1	1	.	.	.	.	.	.	.	.	.	.	T	0.054	-1.240614	0.01493	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.29397	3.18;1.57	2.44	-3.75	0.04372	.	.	.	.	.	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	B	0.19331	0.035	B	0.09377	0.004	T	0.39035	-0.9633	9	0.18710	T	0.47	0.415	1.0887	0.01659	0.1909:0.1336:0.3873:0.2882	.	130	O14862	AIM2_HUMAN	R	130	ENSP00000357112:H130R;ENSP00000405197:H130R	ENSP00000357112:H130R	H	-	2	0	AIM2	157304989	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	-1.151000	0.03175	-0.912000	0.03837	-0.496000	0.04628	CAT	-	NULL		0.453	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	protein_coding	OTTHUMT00000090341.1	T	NM_004833		157304989	-1	no_errors	NM_004833	genbank	human	reviewed	54_36p	missense	SNP	0.001	C
GRIA2	2891	genome.wustl.edu	37	4	158256997	158256997	+	Missense_Mutation	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:158256997T>G	ENST00000264426.9	+	10	1720	c.1441T>G	c.(1441-1443)Tgg>Ggg	p.W481G	GRIA2_ENST00000507898.1_Missense_Mutation_p.W434G|GRIA2_ENST00000449365.1_Missense_Mutation_p.W434G|GRIA2_ENST00000296526.7_Missense_Mutation_p.W481G|GRIA2_ENST00000393815.2_Missense_Mutation_p.W434G	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	481					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CACGAAAATTTGGAATGGGAT	0.428																																																0			4											183.0	164.0	171.0					4																	158256997		2203	4300	6503	158476447	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1441T>G	4.37:g.158256997T>G	ENSP00000264426:p.Trp481Gly		158476447	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.W481G	ENST00000264426.9	37	c.1441	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762546	0.69763	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.86	5.86	0.93980	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.994	D;D;D	0.91635	0.955;0.999;0.988	D	0.97988	1.0353	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	481;481;434	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	G	434;434;481;481;434	ENSP00000426845:W434G;ENSP00000377403:W434G;ENSP00000296526:W481G;ENSP00000264426:W481G;ENSP00000389837:W434G	ENSP00000264426:W481G	W	+	1	0	GRIA2	158476447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	TGG	-	superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd		0.428	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	T			158476447	+1	no_errors	NM_000826	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TULP4	56995	genome.wustl.edu	37	6	158900800	158900800	+	Silent	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr6:158900800C>A	ENST00000367097.3	+	7	2401	c.1044C>A	c.(1042-1044)atC>atA	p.I348I	TULP4_ENST00000367094.2_Silent_p.I348I	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCATCTCCATCTGCTGGGGTC	0.572																																																0			6											62.0	56.0	58.0					6																	158900800		2203	4300	6503	158820788	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1044C>A	6.37:g.158900800C>A			158820788	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,superfamily_TNF-like,HMMPfam_SOCS_box,superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub	p.I348	ENST00000367097.3	37	c.1044	CCDS34561.1	6																																																																																			-	superfamily_WD40 repeat-like		0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158820788	+1	no_errors	NM_020245	genbank	human	validated	54_36p	silent	SNP	1.000	A
SLC4A10	57282	genome.wustl.edu	37	2	162751334	162751334	+	Splice_Site	SNP	A	A	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:162751334A>T	ENST00000446997.1	+	11	1433	c.1340A>T	c.(1339-1341)cAg>cTg	p.Q447L	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000375514.5_Splice_Site_p.Q428L|SLC4A10_ENST00000272716.5_Splice_Site_p.Q417L|SLC4A10_ENST00000415876.2_Splice_Site_p.Q417L|SLC4A10_ENST00000421911.1_Splice_Site_p.Q447L|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	447					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GTTCCTTCCCAGGTATGTATA	0.299																																																0			2											101.0	95.0	97.0					2																	162751334		1803	4074	5877	162459580	SO:0001630	splice_region_variant	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1341+1A>T	2.37:g.162751334A>T			162459580	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1	p.Q417L	ENST00000446997.1	37	c.1250	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171420	0.78452	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.37	5.37	0.77165	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91327	0.7265	M	0.89904	3.07	0.80722	D	1	D;B;D;P	0.76494	0.999;0.125;0.999;0.77	D;B;D;B	0.91635	0.999;0.05;0.999;0.396	D	0.92849	0.6295	10	0.62326	D	0.03	.	15.6669	0.77236	1.0:0.0:0.0:0.0	.	428;447;417;447	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	L	428;417;417;416;447;447;446	ENSP00000364664:Q428L;ENSP00000395797:Q417L;ENSP00000272716:Q417L;ENSP00000393066:Q447L;ENSP00000404486:Q447L	ENSP00000272716:Q417L	Q	+	2	0	SLC4A10	162459580	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.170000	0.68504	0.533000	0.62120	CAG	-	superfamily_Phoshotransferase/anion transport protein		0.299	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	protein_coding	OTTHUMT00000333090.1	A	NM_022058	Missense_Mutation	162459580	+1	no_errors	NM_022058	genbank	human	validated	54_36p	missense	SNP	1.000	T
TLL1	7092	genome.wustl.edu	37	4	166935709	166935709	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:166935709C>G	ENST00000061240.2	+	8	1686	c.1039C>G	c.(1039-1041)Cca>Gca	p.P347A	TLL1_ENST00000513213.1_Missense_Mutation_p.P347A|TLL1_ENST00000507499.1_Missense_Mutation_p.P347A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	347	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTATAGATGTCCAGGTATTGC	0.453																																																0			4											193.0	162.0	173.0					4																	166935709		2203	4300	6503	167155159	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1039C>G	4.37:g.166935709C>G	ENSP00000061240:p.Pro347Ala		167155159	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMPfam_EGF_CA,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF"	p.P347A	ENST00000061240.2	37	c.1039	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648617	0.47258	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.62364	0.03;0.03;0.03	5.17	5.17	0.71159	CUB (1);Peptidase M12A, astacin (1);	0.000000	0.85682	U	0.000000	T	0.52677	0.1749	L	0.41356	1.27	0.80722	D	1	B;B	0.22211	0.066;0.025	B;B	0.22880	0.042;0.014	T	0.47394	-0.9121	10	0.22109	T	0.4	.	14.3962	0.67013	0.1484:0.8515:0.0:0.0	.	347;347	E9PD25;O43897	.;TLL1_HUMAN	A	347	ENSP00000061240:P347A;ENSP00000426082:P347A;ENSP00000422937:P347A	ENSP00000061240:P347A	P	+	1	0	TLL1	167155159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.904000	0.56325	2.387000	0.81309	0.557000	0.71058	CCA	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Astacin"		0.453	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	protein_coding	OTTHUMT00000363821.1	C			167155159	+1	no_errors	NM_012464	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
LRP2	4036	genome.wustl.edu	37	2	170060696	170060696	+	Missense_Mutation	SNP	A	A	G	rs554748412		TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:170060696A>G	ENST00000263816.3	-	42	8086	c.7801T>C	c.(7801-7803)Tat>Cat	p.Y2601H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2601					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TACTGGCCATAGAGAGTCAAG	0.443																																																0			2											153.0	162.0	159.0					2																	170060696		2203	4300	6503	169768942	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7801T>C	2.37:g.170060696A>G	ENSP00000263816:p.Tyr2601His		169768942	O00711|Q16215	Missense_Mutation	SNP	superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1	p.Y2601H	ENST00000263816.3	37	c.7801	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796703	0.70567	.	.	ENSG00000081479	ENST00000263816	D	0.95949	-3.86	5.78	3.33	0.38152	Six-bladed beta-propeller, TolB-like (1);	0.241123	0.43747	D	0.000533	D	0.95658	0.8588	L	0.61218	1.895	0.80722	D	1	D	0.60160	0.987	P	0.60609	0.877	D	0.92970	0.6397	10	0.37606	T	0.19	.	7.411	0.27017	0.7925:0.0:0.0687:0.1388	.	2601	P98164	LRP2_HUMAN	H	2601	ENSP00000263816:Y2601H	ENSP00000263816:Y2601H	Y	-	1	0	LRP2	169768942	1.000000	0.71417	0.860000	0.33809	0.850000	0.48378	5.364000	0.66110	0.405000	0.25532	0.533000	0.62120	TAT	-	superfamily_SSF63825,HMMPfam_Ldl_recept_b,HMMSmart_LY		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	protein_coding	OTTHUMT00000255231.2	A	NM_004525		169768942	-1	no_errors	NM_004525	genbank	human	validated	54_36p	missense	SNP	0.991	G
RAPGEF4	11069	genome.wustl.edu	37	2	173852956	173852956	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:173852956T>A	ENST00000397081.3	+	13	1326	c.1183T>A	c.(1183-1185)Tac>Aac	p.Y395N	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Y395N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Y394N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Y242N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Y224N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Y251N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Y242N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Y175N|RAPGEF4_ENST00000473043.1_3'UTR	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	395					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TACCTCCTGGTACATTATTCT	0.338																																																0			2											139.0	127.0	130.0					2																	173852956		1817	4082	5899	173561202	SO:0001583	missense	11069			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1183T>A	2.37:g.173852956T>A	ENSP00000380271:p.Tyr395Asn		173561202	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	"superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMPfam_RA,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF"	p.Y395N	ENST00000397081.3	37	c.1183	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770316	0.90108	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.52	5.52	0.82312	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.91635	0.999;0.981;0.994;0.985	D	0.99790	1.1031	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	222;224;251;395	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	N	394;395;395;251;224;242;242;222;175	ENSP00000264111:Y394N;ENSP00000380271:Y395N;ENSP00000387104:Y395N;ENSP00000380276:Y251N;ENSP00000440135:Y224N;ENSP00000440250:Y242N;ENSP00000437384:Y242N;ENSP00000438011:Y175N	ENSP00000264111:Y394N	Y	+	1	0	RAPGEF4	173561202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.640000	0.83355	2.222000	0.72286	0.533000	0.62120	TAC	-	superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding		0.338	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	protein_coding	OTTHUMT00000257864.2	T	NM_007023		173561202	+1	no_errors	NM_007023	genbank	human	validated	54_36p	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179474501	179474501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:179474501C>A	ENST00000591111.1	-	222	46950	c.46726G>T	c.(46726-46728)Gag>Tag	p.E15576*	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E8344*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E8152*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E8277*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E17217*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E14649*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15576	Fibronectin type-III 13. {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)			AATTGGTACTCTTTCCCCTCT	0.478																																																0			2											353.0	336.0	341.0					2																	179474501		1913	4124	6037	179182746	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46726G>T	2.37:g.179474501C>A	ENSP00000465570:p.Glu15576*		179182746	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR	p.E13199*	ENST00000591111.1	37	c.39595		2	.	.	.	.	.	.	.	.	.	.	C	60	40.589061	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	.	.	.	X	14649;8152;8344;8277;8152	.	ENSP00000340554:E8344X	E	-	1	0	TTN	179182746	0.989000	0.36119	1.000000	0.80357	0.965000	0.64279	1.836000	0.39191	2.753000	0.94483	0.655000	0.94253	GAG	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179182746	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	nonsense	SNP	0.998	A
TTN	7273	genome.wustl.edu	37	2	179593505	179593505	+	Splice_Site	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:179593505T>C	ENST00000591111.1	-	64	18421	c.18197A>G	c.(18196-18198)gAa>gGa	p.E6066G	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Splice_Site_p.E6383G|TTN_ENST00000342992.6_Splice_Site_p.E5139G|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12854					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)			TTGAGCTGGTTCTGTAGTAAA	0.383																																																0			2											97.0	86.0	89.0					2																	179593505		1877	4112	5989	179301750	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18197-1A>G	2.37:g.179593505T>C			179301750	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	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.E5139G	ENST00000591111.1	37	c.15416		2	.	.	.	.	.	.	.	.	.	.	T	9.043	0.990260	0.18966	.	.	ENSG00000155657	ENST00000342992	T	0.42900	0.96	5.63	5.63	0.86233	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65471	0.2694	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69465	-0.5138	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6066	Q8WZ42	TITIN_HUMAN	G	5139	ENSP00000343764:E5139G	ENSP00000343764:E5139G	E	-	2	0	TTN	179301750	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.221000	0.72243	2.281000	0.76405	0.533000	0.62120	GAA	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	Missense_Mutation	179301750	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	C
SRGAP2	23380	genome.wustl.edu	37	1	206610362	206610362	+	Missense_Mutation	SNP	G	G	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:206610362G>A	ENST00000414007.1	+	11	1183	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	535	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCAGGTGGAAGTGAATGACAT	0.428																																																0			1											158.0	156.0	157.0					1																	206610362		2043	4248	6291	204676985	SO:0001583	missense	23380			AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1183G>A	1.37:g.206610362G>A	ENSP00000390898:p.Val395Met		204676985		Missense_Mutation	SNP	NULL	p.S448N	ENST00000414007.1	37	c.1343		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.116101|5.116101	0.94339|0.94339	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000414359;ENST00000414007;ENST00000439126	.|T;T	.|0.23147	.|1.92;1.92	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55893|0.55893	0.1949|0.1949	.|.	.|.	.|.	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.985;0.997	T|T	0.58393|0.58393	-0.7644|-0.7644	3|8	.|0.87932	.|D	.|0	.|.	19.7538|19.7538	0.96281|0.96281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;535	.|B4DDU0;O75044	.|.;FNBP2_HUMAN	N|M	448|448;395;149	.|ENSP00000390898:V395M;ENSP00000403036:V149M	.|ENSP00000390898:V395M	S|V	+|+	2|1	0|0	SRGAP2|SRGAP2	204676985|204676985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	AGT|GTG	-	NULL		0.428	SRGAP2-201	KNOWN	basic	protein_coding	SRGAP2	protein_coding		G	NM_015326		204676985	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_015326	genbank	human	validated	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	2	210045037	210045037	+	IGR	SNP	G	G	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:210045037G>T								RNA5SP117 (259649 upstream) : MAP2 (243744 downstream)																							CCTTGAGGAAGATGACACTAG	0.488																																																0			2																																								209753282	SO:0001628	intergenic_variant	402116																															2.37:g.210045037G>T			209753282		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.488					LOC402116			G			209753282	+1	pseudogene	XR_017081	genbank	human	model	54_36p	rna	SNP	1.000	T
GLB1L	79411	genome.wustl.edu	37	2	220104811	220104811	+	Missense_Mutation	SNP	C	C	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:220104811C>G	ENST00000295759.7	-	7	865	c.552G>C	c.(550-552)gaG>gaC	p.E184D	GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.E184D|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000409640.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	184					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATATTCATTCTCCACCTGCC	0.537																																																0			2											67.0	67.0	67.0					2																	220104811		2203	4300	6503	219813055	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.552G>C	2.37:g.220104811C>G	ENSP00000295759:p.Glu184Asp		219813055	Q96DR0	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases	p.E184D	ENST00000295759.7	37	c.552	CCDS2437.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.108520|3.108520	0.56291|0.56291	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000295759;ENST00000392089|ENST00000440853	D;D|.	0.99545|.	-6.13;-6.13|.	5.37|5.37	0.452|0.452	0.16634|0.16634	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75102|0.75102	0.3804|0.3804	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75741|0.75741	-0.3211|-0.3211	10|5	0.87932|.	D|.	0|.	-21.8571|-21.8571	11.1286|11.1286	0.48333|0.48333	0.0:0.5961:0.0:0.4039|0.0:0.5961:0.0:0.4039	.|.	184|.	Q6UWU2|.	GLB1L_HUMAN|.	D|T	184|117	ENSP00000295759:E184D;ENSP00000375939:E184D|.	ENSP00000295759:E184D|.	E|R	-|-	3|2	2|0	GLB1L|GLB1L	219813055|219813055	0.965000|0.965000	0.33210|0.33210	0.999000|0.999000	0.59377|0.59377	0.761000|0.761000	0.43186|0.43186	0.179000|0.179000	0.16840|0.16840	0.119000|0.119000	0.18210|0.18210	-0.142000|-0.142000	0.14014|0.14014	GAG|AGA	-	HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases		0.537	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	protein_coding	OTTHUMT00000256822.2	C	NM_024506		219813055	-1	no_errors	NM_024506	genbank	human	provisional	54_36p	missense	SNP	0.994	G
CAPN9	10753	genome.wustl.edu	37	1	230923277	230923277	+	Missense_Mutation	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:230923277C>T	ENST00000271971.2	+	13	1641	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.P484S|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.P447S|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	510	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCCTCCAAAGCCAACTCCACC	0.498																																																0			1											97.0	86.0	90.0					1																	230923277		2203	4300	6503	228989900	SO:0001583	missense	10753			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1528C>T	1.37:g.230923277C>T	ENSP00000271971:p.Pro510Ser		228989900	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1	p.P510S	ENST00000271971.2	37	c.1528	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598589	0.46318	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94537	-3.45;-3.45;-3.45	5.26	3.37	0.38596	.	0.154351	0.64402	D	0.000012	D	0.94311	0.8172	L	0.42245	1.32	0.33936	D	0.642689	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92292	0.5842	10	0.19147	T	0.46	.	7.92	0.29839	0.0:0.7513:0.162:0.0867	.	447;484;510	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	S	510;484;447	ENSP00000271971:P510S;ENSP00000346538:P484S;ENSP00000355626:P447S	ENSP00000271971:P510S	P	+	1	0	CAPN9	228989900	0.980000	0.34600	0.002000	0.10522	0.023000	0.10783	4.505000	0.60421	0.573000	0.29400	0.655000	0.94253	CCA	-	superfamily_EF-hand		0.498	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	protein_coding	OTTHUMT00000092179.1	C	NM_006615		228989900	+1	no_errors	NM_006615	genbank	human	reviewed	54_36p	missense	SNP	0.869	T
TARBP1	6894	genome.wustl.edu	37	1	234584273	234584273	+	Silent	SNP	C	C	T			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:234584273C>T	ENST00000040877.1	-	11	1913	c.1914G>A	c.(1912-1914)ctG>ctA	p.L638L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	638					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GCAAGACCATCAGAGAAACAA	0.368																																																0			1											111.0	104.0	106.0					1																	234584273		2203	4300	6503	232650896	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1914G>A	1.37:g.234584273C>T			232650896	Q9H581	Silent	SNP	superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase	p.L638	ENST00000040877.1	37	c.1914	CCDS1601.1	1																																																																																			-	NULL		0.368	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	protein_coding	OTTHUMT00000092616.1	C	NM_005646		232650896	-1	no_errors	NM_005646	genbank	human	reviewed	54_36p	silent	SNP	0.604	T
HEATR1	55127	genome.wustl.edu	37	1	236721773	236721773	+	Missense_Mutation	SNP	T	T	A			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:236721773T>A	ENST00000366582.3	-	36	5082	c.4968A>T	c.(4966-4968)aaA>aaT	p.K1656N	HEATR1_ENST00000366581.2_Missense_Mutation_p.K1575N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1656					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCCCTTCCTTTTTCTTACGCT	0.418																																																0			1											115.0	100.0	105.0					1																	236721773		2203	4300	6503	234788396	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4968A>T	1.37:g.236721773T>A	ENSP00000355541:p.Lys1656Asn		234788396	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT	p.K1656N	ENST00000366582.3	37	c.4968	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553760	0.45487	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05139	3.49;3.49	6.17	-2.43	0.06522	Armadillo-like helical (1);Armadillo-type fold (1);	0.634993	0.17165	N	0.184502	T	0.04770	0.0129	L	0.40543	1.245	0.09310	N	1	B;B	0.24823	0.016;0.112	B;B	0.24155	0.011;0.051	T	0.40664	-0.9551	10	0.22109	T	0.4	.	8.2131	0.31494	0.0:0.4477:0.1234:0.4289	.	1575;1656	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	N	1656;1575	ENSP00000355541:K1656N;ENSP00000355540:K1575N	ENSP00000355540:K1575N	K	-	3	2	HEATR1	234788396	0.147000	0.22687	0.000000	0.03702	0.980000	0.70556	1.478000	0.35442	-0.688000	0.05155	0.533000	0.62120	AAA	-	superfamily_ARM-type_fold		0.418	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	protein_coding	OTTHUMT00000096635.1	T	XM_375853		234788396	-1	no_errors	NM_018072	genbank	human	validated	54_36p	missense	SNP	0.000	A
OR2T2	401992	genome.wustl.edu	37	1	248616851	248616851	+	Silent	SNP	T	T	G			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:248616851T>G	ENST00000342927.3	+	1	775	c.753T>G	c.(751-753)gtT>gtG	p.V251V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	251						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)			TGGTGAGCGTTTTCTACGGGG	0.557																																																0			1											30.0	23.0	25.0					1																	248616851		2192	4262	6454	246683474	SO:0001819	synonymous_variant	401992			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.753T>G	1.37:g.248616851T>G			246683474	B2RNM1|B9EH01	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V251	ENST00000342927.3	37	c.753	CCDS31116.1	1																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.557	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	protein_coding	OTTHUMT00000097421.1	T	NM_001004136		246683474	+1	no_errors	NM_001004136	genbank	human	provisional	54_36p	silent	SNP	0.000	G
PGBD2	267002	genome.wustl.edu	37	1	249212252	249212252	+	Missense_Mutation	SNP	T	T	C			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr1:249212252T>C	ENST00000329291.5	+	3	1616	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	PGBD2_ENST00000539153.1_Missense_Mutation_p.V487A|PGBD2_ENST00000355360.4_Missense_Mutation_p.V239A	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	490										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATTGGCTATGTCATTGATGCT	0.507																																																0			1											187.0	147.0	160.0					1																	249212252		2203	4300	6503	247178875	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1469T>C	1.37:g.249212252T>C	ENSP00000331643:p.Val490Ala		247178875	B3KVR8|Q6MZF8	Missense_Mutation	SNP	NULL	p.V490A	ENST00000329291.5	37	c.1469	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	.	4.250	0.045412	0.08196	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.18960	2.18;2.18;2.18	2.95	2.95	0.34219	.	1.051240	0.07564	N	0.917402	T	0.08313	0.0207	N	0.01576	-0.805	0.20196	N	0.999923	B;B	0.26975	0.082;0.165	B;B	0.24701	0.045;0.055	T	0.20240	-1.0281	10	0.33940	T	0.23	-9.2739	7.7121	0.28684	0.0:0.0:0.0:1.0	.	487;490	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	A	239;490;487	ENSP00000355424:V239A;ENSP00000331643:V490A;ENSP00000439950:V487A	ENSP00000331643:V490A	V	+	2	0	PGBD2	247178875	0.575000	0.26692	0.210000	0.23637	0.629000	0.37895	1.856000	0.39389	1.580000	0.49851	0.383000	0.25322	GTC	-	NULL		0.507	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	protein_coding	OTTHUMT00000097318.1	T			247178875	+1	no_errors	NM_170725	genbank	human	validated	54_36p	missense	SNP	0.989	C
DNAH9	1770	genome.wustl.edu	37	17	11738172	11738183	+	In_Frame_Del	DEL	CAGCACTCACAG	CAGCACTCACAG	-	rs138685018	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	CAGCACTCACAG	CAGCACTCACAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr17:11738172_11738183delCAGCACTCACAG	ENST00000262442.4	+	49	9532_9543	c.9464_9475delCAGCACTCACAG	c.(9463-9477)ccagcactcacagca>cca	p.ALTA3156del	DNAH9_ENST00000454412.2_In_Frame_Del_p.ALTA3156del	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3156	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A3156P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGGCTGAGCCAGCACTCACAGCAGCGCAGGC	0.566																																																1	Substitution - Missense(1)	kidney(1)	17																																								11678908	SO:0001651	inframe_deletion	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9464_9475delCAGCACTCACAG	17.37:g.11738172_11738183delCAGCACTCACAG	ENSP00000262442:p.Ala3156_Ala3159del		11678897	A2VCQ8|O15064|O95494|Q9NQ28	In_Frame_Del	DEL	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.LTAA3157in_frame_del	ENST00000262442.4	37	c.9464_9475	CCDS11160.1	17																																																																																			(deletion:cds_exon[11678680,11678940])	NULL		0.566	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	CAGCACTCACAG	NM_001372		11678908	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.994:0.266:0.314:0.319:0.141:0.701:0.695:0.008:0.000:0.000:0.000:0.996	-
NFKBIA	4792	genome.wustl.edu	37	14	35871980	35871991	+	In_Frame_Del	DEL	AGCATTGACATC	AGCATTGACATC	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AGCATTGACATC	AGCATTGACATC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:35871980_35871991delAGCATTGACATC	ENST00000216797.5	-	4	723_734	c.622_633delGATGTCAATGCT	c.(622-633)gatgtcaatgctdel	p.DVNA208del	NFKBIA_ENST00000557100.1_Intron|NFKBIA_ENST00000557140.1_In_Frame_Del_p.DVNA208del|NFKBIA_ENST00000557389.1_In_Frame_Del_p.DVNA118del	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	208					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CACCAACCTGAGCATTGACATCAGCACCCAAG	0.495																																																0			14																																								34941742	SO:0001651	inframe_deletion	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.622_633delGATGTCAATGCT	14.37:g.35871980_35871991delAGCATTGACATC	ENSP00000216797:p.Asp208_Ala211del		34941731	B2R8L6	In_Frame_Del	DEL	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.DVNA208in_frame_del	ENST00000216797.5	37	c.633_622	CCDS9656.1	14																																																																																			(deletion:cds_exon[34941728,34941816])	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.495	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	protein_coding	OTTHUMT00000276683.1	AGCATTGACATC	NM_020529		34941742	-1	no_errors	NM_020529	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.896:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
NFKBIA	4792	genome.wustl.edu	37	14	35872554	35872558	+	Frame_Shift_Del	DEL	AGTGG	AGTGG	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AGTGG	AGTGG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr14:35872554_35872558delAGTGG	ENST00000216797.5	-	3	446_450	c.345_349delCCACT	c.(343-351)ctccacttgfs	p.LHL115fs	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Frame_Shift_Del_p.LHL115fs|NFKBIA_ENST00000557389.1_Frame_Shift_Del_p.LHL25fs	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	115					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	ATCACAGCCAAGTGGAGTGGAGTCT	0.556																																																0			14																																								34942309	SO:0001589	frameshift_variant	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.345_349delCCACT	14.37:g.35872559_35872563delAGTGG	ENSP00000216797:p.Leu115fs		34942305	B2R8L6	Frame_Shift_Del	DEL	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.H116fs	ENST00000216797.5	37	c.349_345	CCDS9656.1	14																																																																																			(deletion:cds_exon[34942107,34942317])	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat		0.556	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	protein_coding	OTTHUMT00000276683.1	AGTGG	NM_020529		34942309	-1	no_errors	NM_020529	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:0.938	-
Unknown	0	genome.wustl.edu	37	16	52788695	52788696	+	IGR	INS	-	-	ACAC	rs140657281|rs151144449|rs568686984|rs200606564	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr16:52788695_52788696insACAC								RP11-297L17.4 (125425 upstream) : RP11-467J12.2 (187996 downstream)																							cacacaaagaaacacagagaca	0.446																																																0			16																																								51346197	SO:0001628	intergenic_variant	0																															16.37:g.52788696_52788699dupACAC			51346196		Frame_Shift_Ins	INS	NULL	p.F115fs		37	c.344_343		16																																																																																			-	NULL	0	0.446					LOC100132440			-			51346197	-1	no_errors	XM_001719251	genbank	human	model	54_36p	frame_shift_ins	INS	0.000:0.000	ACAC
EXOC5P1	644548	genome.wustl.edu	37	4	63683814	63683818	+	IGR	DEL	AATGC	AATGC	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AATGC	AATGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr4:63683814_63683818delAATGC								AC110810.1 (222634 upstream) : RP11-257A22.1 (310210 downstream)																							AGATTCTAGGAATGCAAATCTTTAT	0.332																																																0			4																																								63366413	SO:0001628	intergenic_variant	644556																															4.37:g.63683814_63683818delAATGC			63366409		Frame_Shift_Del	DEL	HMMPfam_Sec10	p.N115fs		37	c.343_347		4																																																																																			(deletion:cds_exon[63366067,63367107])	HMMPfam_Sec10	0	0.332					LOC644556			AATGC			63366413	+1	no_errors	XM_001719457	genbank	human	model	54_36p	frame_shift_del	DEL	1.000:1.000:0.997:1.000:1.000	-
BCL9L	283149	genome.wustl.edu	37	11	118772432	118772432	+	Frame_Shift_Del	DEL	C	C	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr11:118772432delC	ENST00000334801.3	-	6	2984	c.2020delG	c.(2020-2022)gtcfs	p.V674fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	674					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCTCACGGACCCGGGGAGTC	0.652																																																0			11											35.0	35.0	35.0					11																	118772432		2200	4295	6495	118277642	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2020delG	11.37:g.118772432delC	ENSP00000335320:p.Val674fs		118277642	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	PatternScan_RIBOSOMAL_S6E	p.V674fs	ENST00000334801.3	37	c.2020	CCDS8403.1	11																																																																																			(deletion:cds_exon[118276538,118278827])	NULL		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	protein_coding	OTTHUMT00000389653.1	C	NM_182557		118277642	-1	no_errors	NM_182557	genbank	human	validated	54_36p	frame_shift_del	DEL	0.249	-
PCDHB4	56131	genome.wustl.edu	37	5	140502964	140502977	+	Frame_Shift_Del	DEL	AACAACAGCCCCGC	AACAACAGCCCCGC	-			TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	AACAACAGCCCCGC	AACAACAGCCCCGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr5:140502964_140502977delAACAACAGCCCCGC	ENST00000194152.1	+	1	1384_1397	c.1384_1397delAACAACAGCCCCGC	c.(1384-1398)aacaacagccccgccfs	p.NNSPA462fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTCCGCGAGAACAACAGCCCCGCCCTGCACATC	0.64																																																0			5																																								140483161	SO:0001589	frameshift_variant	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1384_1397delAACAACAGCCCCGC	5.37:g.140502964_140502977delAACAACAGCCCCGC	ENSP00000194152:p.Asn462fs		140483148	Q4V761	Frame_Shift_Del	DEL	HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA	p.N462fs	ENST00000194152.1	37	c.1384_1397	CCDS4246.1	5																																																																																			(deletion:cds_exon[140481765,140484152])	superfamily_Cadherin,HMMPfam_Cadherin		0.640	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	AACAACAGCCCCGC	NM_018938		140483161	+1	no_errors	NM_018938	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:0.975:0.941:0.939:0.944:0.969:0.978:0.956:0.967:0.407	-
KLHL23	151230	genome.wustl.edu	37	2	170606610	170606613	+	3'UTR	DEL	ATAC	ATAC	-	rs398060766|rs75622614|rs138903414|rs58026861	byFrequency	TCGA-30-1855-01A-01W-0639-09	TCGA-30-1855-10A-01W-0639-09	ATAC	ATAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	746f60b1-46ab-4b56-a8ee-53e89525f0ce	96b69a67-1fbe-4113-8e34-bfaef2435c7d	g.chr2:170606610_170606613delATAC	ENST00000392647.2	+	0	2289_2292					NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23											breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						atatatgtgtatacatatatatgt	0.24														2705	0.540136	0.2443	0.7046	5008	,	,		2897	0.7173		0.5845	False		,,,				2504	0.5951															0			2																																								170314859	SO:0001624	3_prime_UTR_variant	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.*371ATAC>-	2.37:g.170606610_170606613delATAC			170314856	Q8N9B9|Q96FT8	Frame_Shift_Del	DEL	NULL	p.V23fs	ENST00000392647.2	37	c.70_67	CCDS2236.1	2																																																																																			(deletion:cds_exon[170314803,170314925])	NULL		0.240	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000197199	protein_coding	OTTHUMT00000255271.2	ATAC	NM_144711		170314859	-1	no_start_codon:no_stop_codon	ENST00000355513	ensembl	human	known	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.000	-
