#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA12	26154	genome.wustl.edu	37	2	215875193	215875193	+	Splice_Site	SNP	T	T	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:215875193T>C	ENST00000272895.7	-	18	2553	c.2334A>G	c.(2332-2334)acA>acG	p.T778T	ABCA12_ENST00000389661.4_Splice_Site_p.T460T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	778					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAAAATGGTGCTGGAAGGA	0.358																																					Ovarian(66;664 1488 5121 34295)												0													64.0	63.0	64.0					2																	215875193		2203	4300	6503	SO:0001630	splice_region_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2333-1A>G	2.37:g.215875193T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T778	ENST00000272895.7	37	c.2334	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	T	NM_173076	Silent	215875193	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	silent	SNP	0.997	C
ABHD8	79575	genome.wustl.edu	37	19	17405201	17405201	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:17405201C>T	ENST00000247706.3	-	4	1284	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	349							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCGTCGCCCTCGGGCCAGTAC	0.617																																					Ovarian(156;1368 2543 15275 41187)												0													124.0	99.0	107.0					19																	17405201		2203	4300	6503	SO:0001583	missense	79575			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1045G>A	19.37:g.17405201C>T	ENSP00000247706:p.Glu349Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HAE9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.E349K	ENST00000247706.3	37	c.1045	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795128	0.90453	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.67171	-0.25	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.49350	1.555	0.80722	D	1	P	0.46512	0.879	P	0.44561	0.453	T	0.69453	-0.5141	10	0.52906	T	0.07	-34.6112	16.4003	0.83639	0.0:1.0:0.0:0.0	.	349	Q96I13	ABHD8_HUMAN	K	349;295	ENSP00000247706:E349K	ENSP00000247706:E349K	E	-	1	0	ABHD8	17266201	1.000000	0.71417	0.996000	0.52242	0.268000	0.26511	7.454000	0.80714	2.470000	0.83445	0.655000	0.94253	GAG	ABHD8	-	pfam_AB_hydrolase_1		0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	C	NM_024527		17405201	-1	no_errors	ENST00000247706	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS7	11173	genome.wustl.edu	37	15	79056093	79056093	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:79056093C>T	ENST00000388820.4	-	22	4898	c.4688G>A	c.(4687-4689)cGg>cAg	p.R1563Q		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1563	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTTGCAGGGCCGGGTGGTGTT	0.716																																																	0													9.0	11.0	10.0					15																	79056093		2133	4203	6336	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4688G>A	15.37:g.79056093C>T	ENSP00000373472:p.Arg1563Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1563Q	ENST00000388820.4	37	c.4688	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	c	6.891	0.533978	0.13188	.	.	ENSG00000136378	ENST00000388820	T	0.49720	0.77	4.42	1.47	0.22746	.	0.238929	0.34879	N	0.003608	T	0.24160	0.0585	N	0.17800	0.525	0.20563	N	0.999881	B	0.33904	0.431	B	0.27715	0.082	T	0.18147	-1.0346	10	0.15952	T	0.53	.	8.0311	0.30465	0.0:0.7235:0.0:0.2765	.	1563	Q9UKP4	ATS7_HUMAN	Q	1563	ENSP00000373472:R1563Q	ENSP00000373472:R1563Q	R	-	2	0	ADAMTS7	76843148	0.001000	0.12720	0.049000	0.19019	0.149000	0.21700	0.471000	0.22100	0.013000	0.14918	-0.240000	0.12126	CGG	ADAMTS7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.716	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	C	NM_014272		79056093	-1	no_errors	ENST00000388820	ensembl	human	known	70_37	missense	SNP	0.303	T
APOBEC3G	60489	genome.wustl.edu	37	22	39479831	39479831	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:39479831G>T	ENST00000407997.3	+	5	1034	c.677G>T	c.(676-678)cGc>cTc	p.R226L	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R226L|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	226	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GAGGTGGAGCGCATGCACAAT	0.552																																																	0													118.0	96.0	103.0					22																	39479831		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.677G>T	22.37:g.39479831G>T	ENSP00000385057:p.Arg226Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R226L	ENST00000407997.3	37	c.677	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.386744	0.01194	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	D;D	0.85013	-1.93;-1.93	1.7	-3.4	0.04853	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.80747	0.4682	L	0.58669	1.825	0.09310	N	1	P	0.43633	0.813	P	0.46479	0.518	T	0.69239	-0.5197	9	0.17369	T	0.5	.	6.284	0.21023	0.163:0.0:0.6202:0.2168	.	226	Q9HC16	ABC3G_HUMAN	L	226	ENSP00000413376:R226L;ENSP00000385057:R226L	ENSP00000385057:R226L	R	+	2	0	APOBEC3G	37809777	0.011000	0.17503	0.001000	0.08648	0.000000	0.00434	-0.430000	0.06973	-1.053000	0.03218	-1.237000	0.01550	CGC	APOBEC3G	-	pfam_APOBEC_N		0.552	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39479831	+1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.005	T
APOBR	55911	genome.wustl.edu	37	16	28507445	28507445	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:28507445G>C	ENST00000431282.1	+	3	1066	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D	APOBR_ENST00000564831.1_Missense_Mutation_p.E361D|APOBR_ENST00000328423.5_Missense_Mutation_p.E352D|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	352	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CAGGAGGGGAGGAGGCCGGGA	0.682																																																	0													12.0	15.0	14.0					16																	28507445		1938	4080	6018	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1056G>C	16.37:g.28507445G>C	ENSP00000416094:p.Glu352Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E361D	ENST00000431282.1	37	c.1083		16	.	.	.	.	.	.	.	.	.	.	G	7.381	0.628786	0.14257	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	3.42	-2.0	0.07433	.	.	.	.	.	T	0.37183	0.0994	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.10450	0.005	T	0.18147	-1.0346	8	0.33940	T	0.23	.	4.5869	0.12287	0.5053:0.1711:0.3237:0.0	.	352	Q9NS13	.	D	352	ENSP00000327669:E352D;ENSP00000416094:E352D	ENSP00000327669:E352D	E	+	3	2	APOBR	28414946	0.040000	0.19996	0.000000	0.03702	0.006000	0.05464	0.236000	0.17967	-0.482000	0.06782	-1.291000	0.01355	GAG	APOBR	-	NULL		0.682	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28507445	+1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.310	C
ARHGEF9	23229	genome.wustl.edu	37	X	62898257	62898257	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:62898257A>T	ENST00000253401.6	-	5	1557	c.757T>A	c.(757-759)Ttg>Atg	p.L253M	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L200M|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L251M|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.L24M|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L151M|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L232M	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGCTCAGCCAACTGTAAGGGA	0.478																																																	0													72.0	53.0	59.0					X																	62898257		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.757T>A	X.37:g.62898257A>T	ENSP00000253401:p.Leu253Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L253M	ENST00000253401.6	37	c.757	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419584	0.62622	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.08	2.61	0.31194	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	D	0.91771	0.7397	H	0.94925	3.6	0.51482	D	0.999924	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89196	0.3554	10	0.87932	D	0	.	6.529	0.22316	0.5383:0.0:0.4617:0.0	.	200;251;253;253	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	M	253;251;200;151;24;232	ENSP00000253401:L253M;ENSP00000364012:L251M;ENSP00000399994:L200M;ENSP00000364004:L151M;ENSP00000404478:L24M;ENSP00000364006:L232M	ENSP00000253401:L253M	L	-	1	2	ARHGEF9	62814982	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.318000	0.33643	0.159000	0.19401	0.486000	0.48141	TTG	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.478	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	A			62898257	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP4	393	genome.wustl.edu	37	X	153176375	153176375	+	Splice_Site	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:153176375C>G	ENST00000350060.5	-	14	1723		c.e14+1		ARHGAP4_ENST00000537206.1_Splice_Site|ARHGAP4_ENST00000370028.3_Splice_Site|ARHGAP4_ENST00000393721.1_Splice_Site|ARHGAP4_ENST00000370016.1_Splice_Site|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4						apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGTCCCCACCTCTCTCGAA	0.677											OREG0003617	type=REGULATORY REGION|Gene=ARHGAP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													11.0	10.0	10.0					X																	153176375		2031	3980	6011	SO:0001630	splice_region_variant	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1681+1G>C	X.37:g.153176375C>G		Somatic	1753	WXS	Illumina HiSeq	Phase_IV	Q14144|Q86UY3	Splice_Site	SNP	-	e14+1	ENST00000350060.5	37	c.1681+1	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	c	11.53	1.664997	0.29604	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000454164	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0668	0.72002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP4	152829569	.	.	0.998000	0.56505	0.162000	0.22319	.	.	2.058000	0.61347	0.525000	0.51046	.	ARHGAP4	-	-		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666	Intron	153176375	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ARPC2	10109	genome.wustl.edu	37	2	219082250	219082250	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:219082250C>G	ENST00000295685.10	+	1	318	c.57C>G	c.(55-57)ttC>ttG	p.F19L	ARPC2_ENST00000315717.5_Missense_Mutation_p.F19L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	19					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CGCTCAAGTTCGAGAAcgcgg	0.677																																																	0																																										SO:0001583	missense	10109			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.57C>G	2.37:g.219082250C>G	ENSP00000295685:p.Phe19Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.F19L	ENST00000295685.10	37	c.57	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772036	0.49680	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.21	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.56769	1.78	0.58432	D	0.999996	B	0.21606	0.058	B	0.14023	0.01	T	0.48031	-0.9070	9	0.31617	T	0.26	.	9.1526	0.36973	0.0:0.8303:0.0:0.1697	.	19	O15144	ARPC2_HUMAN	L	19	.	ENSP00000295685:F19L	F	+	3	2	ARPC2	218790495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.193000	0.58385	0.801000	0.34066	0.591000	0.81541	TTC	ARPC2	-	NULL		0.677	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	C	NM_005731		219082250	+1	no_errors	ENST00000295685	ensembl	human	known	70_37	missense	SNP	1.000	G
ASTE1	28990	genome.wustl.edu	37	3	130743916	130743916	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:130743916C>G	ENST00000264992.3	-	3	676	c.235G>C	c.(235-237)Gat>Cat	p.D79H	NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.D79H|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	79					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CATCCTCCATCTAATACAACA	0.398																																																	0													105.0	100.0	102.0					3																	130743916		2203	4300	6503	SO:0001583	missense	28990			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.235G>C	3.37:g.130743916C>G	ENSP00000264992:p.Asp79His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N	p.D79H	ENST00000264992.3	37	c.235	CCDS3068.1	3	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688750	0.48097	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	T;T	0.75260	-0.92;-0.92	5.45	5.45	0.79879	XPG N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.88775	2.98	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90673	0.4599	10	0.87932	D	0	-27.3089	18.909	0.92475	0.0:1.0:0.0:0.0	.	79;79	D6RG30;Q2TB18	.;ASTE1_HUMAN	H	79	ENSP00000426421:D79H;ENSP00000264992:D79H	ENSP00000264992:D79H	D	-	1	0	ASTE1	132226606	1.000000	0.71417	0.838000	0.33150	0.225000	0.24961	5.447000	0.66606	2.555000	0.86185	0.655000	0.94253	GAT	ASTE1	-	pfam_XPG_DNA_repair_N		0.398	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1	C	NM_014065		130743916	-1	no_errors	ENST00000264992	ensembl	human	known	70_37	missense	SNP	0.997	G
ATF6B	1388	genome.wustl.edu	37	6	32083725	32083725	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:32083725C>T	ENST00000375203.3	-	18	1935	c.1903G>A	c.(1903-1905)Gcc>Acc	p.A635T	ATF6B_ENST00000375201.4_Missense_Mutation_p.A632T	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	635					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCCCCCGGGGCCCCACGGCCT	0.582																																																	0													39.0	35.0	36.0					6																	32083725		2203	4300	6503	SO:0001583	missense	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1903G>A	6.37:g.32083725C>T	ENSP00000364349:p.Ala635Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.A635T	ENST00000375203.3	37	c.1903	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	c	11.78	1.741429	0.30865	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.53857	0.6;1.34	4.82	-3.58	0.04597	.	1.260340	0.06240	U	0.690223	T	0.07773	0.0195	N	0.04203	-0.255	0.09310	N	1	B;B	0.22683	0.073;0.02	B;B	0.24394	0.053;0.016	T	0.15093	-1.0449	10	0.12430	T	0.62	-1.8056	4.2813	0.10834	0.2247:0.146:0.5141:0.1152	.	632;635	Q99941-2;Q99941	.;ATF6B_HUMAN	T	635;632	ENSP00000364349:A635T;ENSP00000364347:A632T	ENSP00000364347:A632T	A	-	1	0	ATF6B	32191703	0.000000	0.05858	0.001000	0.08648	0.960000	0.62799	-0.919000	0.04017	-0.555000	0.06142	-0.512000	0.04463	GCC	ATF6B	-	NULL		0.582	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	C			32083725	-1	no_errors	ENST00000375203	ensembl	human	known	70_37	missense	SNP	0.003	T
ATP2B2	491	genome.wustl.edu	37	3	10417157	10417157	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:10417157C>T	ENST00000352432.4	-	10	1442	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	ATP2B2_ENST00000397077.1_Missense_Mutation_p.G413E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G413E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G458E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G444E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	458					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGAGGGAGCCCCTCGGGCAC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)												0													72.0	75.0	74.0					3																	10417157		2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1373G>A	3.37:g.10417157C>T	ENSP00000324172:p.Gly458Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G458E	ENST00000352432.4	37	c.1373	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963032	0.92791	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	4.34	4.34	0.51931	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	M	0.85373	2.75	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	D	0.97165	0.9840	10	0.87932	D	0	-32.4393	17.0685	0.86567	0.0:1.0:0.0:0.0	.	393;425;458	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	E	458;413;413;458;444;393;314;458	ENSP00000324172:G458E;ENSP00000373311:G413E;ENSP00000380267:G413E;ENSP00000353414:G458E;ENSP00000344677:G444E;ENSP00000414854:G314E	ENSP00000342954:G458E	G	-	2	0	ATP2B2	10392157	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.651000	0.83577	2.234000	0.73211	0.561000	0.74099	GGG	ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	C	NM_001683		10417157	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP2B3	492	genome.wustl.edu	37	X	152807877	152807877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:152807877C>G	ENST00000349466.2	+	5	1087	c.761C>G	c.(760-762)tCa>tGa	p.S254*	ATP2B3_ENST00000370186.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000370181.2_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000359149.3_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000393842.1_Nonsense_Mutation_p.S254*|ATP2B3_ENST00000263519.4_Nonsense_Mutation_p.S254*			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	254					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCGCAAGTCAGCTGACAAA	0.652																																																	0													93.0	63.0	73.0					X																	152807877		2203	4300	6503	SO:0001587	stop_gained	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.761C>G	X.37:g.152807877C>G	ENSP00000343886:p.Ser254*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.S254*	ENST00000349466.2	37	c.761	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.326328	0.99137	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	.	.	.	5.45	5.45	0.79879	.	0.326237	0.28724	N	0.014352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.1074	16.9818	0.86329	0.0:1.0:0.0:0.0	.	.	.	.	X	254	.	ENSP00000263519:S254X	S	+	2	0	ATP2B3	152461071	0.996000	0.38824	0.891000	0.34965	0.650000	0.38633	7.776000	0.85560	2.273000	0.75805	0.513000	0.50165	TCA	ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_ion-transptr		0.652	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152807877	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	nonsense	SNP	0.997	G
AUH	549	genome.wustl.edu	37	9	94123919	94123919	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:94123919C>T	ENST00000375731.4	-	1	276	c.253G>A	c.(253-255)Gag>Aag	p.E85K	AUH_ENST00000303617.5_Missense_Mutation_p.E85K|AUH_ENST00000478465.1_5'UTR|AUH_ENST00000422391.2_Missense_Mutation_p.E85K	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	85					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTCGGTTCTCCTCCTCCAGG	0.721																																																	0													13.0	10.0	11.0					9																	94123919		2181	4260	6441	SO:0001583	missense	549			X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.253G>A	9.37:g.94123919C>T	ENSP00000364883:p.Glu85Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALV7|B1ALV8|Q8WUE4	Missense_Mutation	SNP	pfam_Crotonase_core	p.E85K	ENST00000375731.4	37	c.253	CCDS6689.1	9	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048040	0.55110	.	.	ENSG00000148090	ENST00000375731;ENST00000303617;ENST00000422391	T;T;T	0.66995	-0.24;-0.24;-0.24	4.0	4.0	0.46444	.	0.341865	0.28209	U	0.016196	T	0.41880	0.1178	N	0.05230	-0.09	0.43246	D	0.995163	B;B;B	0.19817	0.039;0.01;0.007	B;B;B	0.23150	0.044;0.008;0.006	T	0.32798	-0.9893	10	0.08599	T	0.76	.	12.943	0.58357	0.0:1.0:0.0:0.0	.	85;85;85	B4DYI6;Q13825-2;Q13825	.;.;AUHM_HUMAN	K	85	ENSP00000364883:E85K;ENSP00000307334:E85K;ENSP00000402026:E85K	ENSP00000307334:E85K	E	-	1	0	AUH	93163740	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.220000	0.51207	2.054000	0.61138	0.448000	0.29417	GAG	AUH	-	NULL		0.721	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUH	HGNC	protein_coding	OTTHUMT00000053032.1	C			94123919	-1	no_errors	ENST00000375731	ensembl	human	known	70_37	missense	SNP	1.000	T
BBX	56987	genome.wustl.edu	37	3	107474452	107474452	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:107474452C>G	ENST00000325805.8	+	10	1120	c.833C>G	c.(832-834)tCa>tGa	p.S278*	BBX_ENST00000406780.1_Nonsense_Mutation_p.S278*|BBX_ENST00000402543.1_Nonsense_Mutation_p.S278*|BBX_ENST00000415149.2_Nonsense_Mutation_p.S278*|BBX_ENST00000416476.2_Nonsense_Mutation_p.S278*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	278					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TAGATTTCTTCAAACACTTCG	0.368																																																	0													106.0	115.0	112.0					3																	107474452		2203	4300	6503	SO:0001587	stop_gained	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.833C>G	3.37:g.107474452C>G	ENSP00000319974:p.Ser278*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S278*	ENST00000325805.8	37	c.833	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.233753	0.98154	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000416476;ENST00000402163;ENST00000406780	.	.	.	5.57	5.57	0.84162	.	0.252395	0.41294	D	0.000907	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.9261	15.3872	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	X	278;129;278;278;278;278;278	.	ENSP00000319742:S129X	S	+	2	0	BBX	108957142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.538000	0.60650	2.779000	0.95612	0.591000	0.81541	TCA	BBX	-	pfam_TF_HMG_box_BBX_DUF2028		0.368	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	C	NM_020235		107474452	+1	no_errors	ENST00000325805	ensembl	human	known	70_37	nonsense	SNP	1.000	G
BIRC6	57448	genome.wustl.edu	37	2	32640932	32640932	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:32640932C>T	ENST00000421745.2	+	10	2707	c.2573C>T	c.(2572-2574)tCg>tTg	p.S858L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	858					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAATTACCTCGCTCATTTTG	0.388																																					Pancreas(94;175 1509 16028 18060 45422)												0													67.0	60.0	62.0					2																	32640932		2203	4300	6503	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2573C>T	2.37:g.32640932C>T	ENSP00000393596:p.Ser858Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S858L	ENST00000421745.2	37	c.2573	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212028	0.79240	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.77532	0.4144	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.70114	-0.4961	10	0.09843	T	0.71	.	19.7228	0.96150	0.0:1.0:0.0:0.0	.	858	Q9NR09	BIRC6_HUMAN	L	858	ENSP00000393596:S858L	ENSP00000393596:S858L	S	+	2	0	BIRC6	32494436	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.578000	0.82498	2.667000	0.90743	0.655000	0.94253	TCG	BIRC6	-	NULL		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32640932	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	missense	SNP	1.000	T
BUB1	699	genome.wustl.edu	37	2	111408297	111408297	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:111408297G>A	ENST00000302759.6	-	18	2147	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	BUB1_ENST00000535254.1_Missense_Mutation_p.R657C|BUB1_ENST00000409311.1_Missense_Mutation_p.R677C	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	677					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGGCTCAGACGAAGTAAGGAT	0.502																																																	0													84.0	74.0	77.0					2																	111408297		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2029C>T	2.37:g.111408297G>A	ENSP00000302530:p.Arg677Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.R677C	ENST00000302759.6	37	c.2029	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024405	0.19433	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30981	2.24;1.51;2.51	4.95	0.987	0.19790	.	2.232510	0.01293	N	0.010084	T	0.12603	0.0306	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.19128	-1.0315	10	0.52906	T	0.07	4.2176	1.2119	0.01906	0.2106:0.1995:0.4271:0.1627	.	657;677;677	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	C	657;677;677;677	ENSP00000441013:R657C;ENSP00000386701:R677C;ENSP00000302530:R677C	ENSP00000302530:R677C	R	-	1	0	BUB1	111124769	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.102000	0.10956	-0.001000	0.14495	0.650000	0.86243	CGT	BUB1	-	NULL		0.502	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	G	NM_004336		111408297	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	0.000	A
BUB1B	701	genome.wustl.edu	37	15	40477477	40477477	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:40477477C>T	ENST00000287598.6	+	7	1058	c.863C>T	c.(862-864)tCt>tTt	p.S288F	BUB1B_ENST00000412359.3_Missense_Mutation_p.S302F	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGAGTTGTCTAAGCCTACA	0.473			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													109.0	113.0	112.0					15																	40477477		2203	4300	6503	SO:0001583	missense	701	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.863C>T	15.37:g.40477477C>T	ENSP00000287598:p.Ser288Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.S302F	ENST00000287598.6	37	c.905	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839685	0.32513	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15718	2.4;2.4	6.04	-0.639	0.11497	.	0.389995	0.26975	N	0.021557	T	0.09730	0.0239	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.19418	-1.0306	10	0.56958	D	0.05	-1.2776	7.0149	0.24883	0.0:0.4598:0.3474:0.1928	.	302;288	O60566-3;O60566	.;BUB1B_HUMAN	F	288;302;234	ENSP00000287598:S288F;ENSP00000398470:S302F	ENSP00000287598:S288F	S	+	2	0	BUB1B	38264769	0.007000	0.16637	0.018000	0.16275	0.949000	0.60115	0.689000	0.25437	-0.345000	0.08325	0.561000	0.74099	TCT	BUB1B	-	NULL		0.473	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	C			40477477	+1	no_errors	ENST00000412359	ensembl	human	known	70_37	missense	SNP	0.001	T
C2orf78	388960	genome.wustl.edu	37	2	74044086	74044086	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:74044086G>T	ENST00000409561.1	+	3	2857	c.2736G>T	c.(2734-2736)atG>atT	p.M912I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	912										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAAGAGATATGGAAATTGCTG	0.393																																																	0													29.0	32.0	31.0					2																	74044086		1866	4110	5976	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.2736G>T	2.37:g.74044086G>T	ENSP00000387124:p.Met912Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.M912I	ENST00000409561.1	37	c.2736	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693931	0.30052	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.50813	0.73	5.34	1.42	0.22433	.	0.102424	0.42172	D	0.000747	T	0.39886	0.1095	M	0.77103	2.36	0.09310	N	1	P	0.42296	0.775	B	0.36464	0.225	T	0.44907	-0.9297	10	0.72032	D	0.01	-9.0743	2.5604	0.04771	0.165:0.1464:0.5372:0.1513	.	912	A6NCI8	CB078_HUMAN	I	912;882	ENSP00000387124:M912I	ENSP00000340692:M882I	M	+	3	0	C2orf78	73897594	0.657000	0.27393	0.000000	0.03702	0.001000	0.01503	2.832000	0.48152	0.052000	0.16007	-0.321000	0.08615	ATG	C2orf78	-	NULL		0.393	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	G	NM_001080474		74044086	+1	no_errors	ENST00000409561	ensembl	human	novel	70_37	missense	SNP	0.002	T
C5orf34	375444	genome.wustl.edu	37	5	43509274	43509274	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:43509274C>G	ENST00000306862.2	-	2	543	c.168G>C	c.(166-168)agG>agC	p.R56S	RP11-159F24.6_ENST00000512498.1_RNA|RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	56										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CAAAATGTGTCCTTTGACGAA	0.388																																																	0													110.0	108.0	109.0					5																	43509274		2203	4300	6503	SO:0001583	missense	375444			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.168G>C	5.37:g.43509274C>G	ENSP00000303490:p.Arg56Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R56S	ENST00000306862.2	37	c.168	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728605	0.69074	.	.	ENSG00000172244	ENST00000306862	T	0.49139	0.79	4.93	1.11	0.20524	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	M	0.77616	2.38	0.42933	D	0.994325	D	0.89917	1.0	D	0.87578	0.998	T	0.63102	-0.6712	10	0.87932	D	0	-12.5597	7.8221	0.29294	0.0:0.6606:0.0:0.3394	.	56	Q96MH7	CE034_HUMAN	S	56	ENSP00000303490:R56S	ENSP00000303490:R56S	R	-	3	2	C5orf34	43545031	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	-0.042000	0.12063	0.230000	0.21059	0.655000	0.94253	AGG	C5orf34	-	NULL		0.388	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	C	NM_198566		43509274	-1	no_errors	ENST00000306862	ensembl	human	known	70_37	missense	SNP	1.000	G
C6orf222	389384	genome.wustl.edu	37	6	36298020	36298020	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:36298020G>T	ENST00000437635.2	-	2	625	c.448C>A	c.(448-450)Cac>Aac	p.H150N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	150										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTCTTGTCGTGGTGGGCTTTC	0.622																																																	0													82.0	66.0	71.0					6																	36298020		2203	4300	6503	SO:0001583	missense	389384				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.448C>A	6.37:g.36298020G>T	ENSP00000418983:p.His150Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTY8	Missense_Mutation	SNP	NULL	p.H150N	ENST00000437635.2	37	c.448	CCDS34439.1	6	.	.	.	.	.	.	.	.	.	.	G	1.990	-0.431984	0.04669	.	.	ENSG00000189325	ENST00000437635	T	0.48201	0.82	0.207	0.207	0.15214	.	0.905940	0.09132	N	0.844226	T	0.09555	0.0235	N	0.22421	0.69	0.09310	N	1	B	0.19935	0.04	B	0.12837	0.008	T	0.35400	-0.9790	9	0.07813	T	0.8	-27.0296	.	.	.	.	150	P0C671	CF222_HUMAN	N	150	ENSP00000418983:H150N	ENSP00000418983:H150N	H	-	1	0	C6orf222	36405998	0.301000	0.24444	0.057000	0.19452	0.581000	0.36288	0.329000	0.19698	0.284000	0.22305	0.289000	0.19496	CAC	C6orf222	-	NULL		0.622	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	G	NM_001010903		36298020	-1	no_errors	ENST00000437635	ensembl	human	known	70_37	missense	SNP	0.044	T
CACNA1G	8913	genome.wustl.edu	37	17	48653249	48653251	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CAC	CAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:48653249_48653251delCAC	ENST00000359106.5	+	8	1486_1488	c.1486_1488delCAC	c.(1486-1488)cacdel	p.H504del	CACNA1G_ENST00000510115.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000503485.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000416767.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000513689.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000507510.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000515411.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000429973.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000514717.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000354983.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000515765.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000360761.4_In_Frame_Del_p.H504del|CACNA1G_ENST00000512389.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000513964.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000507896.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000352832.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000505165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000358244.5_In_Frame_Del_p.H504del|CACNA1G_ENST00000507336.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000515165.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514181.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000510366.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000514079.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000502264.1_In_Frame_Del_p.H504del|CACNA1G_ENST00000442258.2_In_Frame_Del_p.H504del|CACNA1G_ENST00000507609.1_In_Frame_Del_p.H504del	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	504	Poly-His.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCACCTGGTGcaccaccaccacc	0.7																																																	0									,,,,,,,,,,,,,,	41,3783		2,37,1873					,,,,,,,,,,,,,,	-8.2	0.7			15	139,7763		4,131,3816	no	coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding	CACNA1G	NM_198397.1,NM_198396.1,NM_198388.1,NM_198387.1,NM_198386.1,NM_198385.1,NM_198384.1,NM_198383.1,NM_198382.1,NM_198380.1,NM_198379.1,NM_198378.1,NM_198377.1,NM_198376.1,NM_018896.3	,,,,,,,,,,,,,,	6,168,5689	A1A1,A1R,RR		1.759,1.0722,1.5351	,,,,,,,,,,,,,,	,,,,,,,,,,,,,,		180,11546				SO:0001651	inframe_deletion	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1486_1488delCAC	17.37:g.48653258_48653260delCAC	ENSP00000352011:p.His504del	Somatic		WXS	Illumina HiSeq	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.H499in_frame_del	ENST00000359106.5	37	c.1486_1488	CCDS45730.1	17																																																																																			CACNA1G	-	NULL		0.700	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	CAC	NM_018896		48653251	+1	no_errors	ENST00000359106	ensembl	human	known	70_37	in_frame_del	DEL	0.985:1.000:1.000	-
CADM3	57863	genome.wustl.edu	37	1	159162383	159162383	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:159162383G>A	ENST00000368125.4	+	3	402	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CADM3_ENST00000368124.4_Missense_Mutation_p.R116Q	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	82	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGAGATAATCGAATTCAGCTG	0.512																																																	0													121.0	107.0	112.0					1																	159162383		2203	4300	6503	SO:0001583	missense	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.245G>A	1.37:g.159162383G>A	ENSP00000357107:p.Arg82Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.R116Q	ENST00000368125.4	37	c.347	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.299530	0.95574	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.87729	-2.29;-2.29;-2.29	5.22	5.22	0.72569	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.94324	0.8176	M	0.91038	3.17	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.996	D	0.95003	0.8145	10	0.87932	D	0	.	16.3396	0.83078	0.0:0.0:1.0:0.0	.	82;82;116	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	Q	116;82;82	ENSP00000357106:R116Q;ENSP00000357107:R82Q;ENSP00000387802:R82Q	ENSP00000357106:R116Q	R	+	2	0	CADM3	157429007	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.043000	0.93799	2.708000	0.92522	0.650000	0.86243	CGA	CADM3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.512	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	G	NM_021189		159162383	+1	no_errors	ENST00000368124	ensembl	human	known	70_37	missense	SNP	1.000	A
CAMK2D	817	genome.wustl.edu	37	4	114386752	114386752	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:114386752G>T	ENST00000342666.5	-	15	1041	c.1042C>A	c.(1042-1044)Caa>Aaa	p.Q348K	CAMK2D_ENST00000508738.1_Missense_Mutation_p.Q359K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Q368K|CAMK2D_ENST00000454265.2_Missense_Mutation_p.Q373K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Q382K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Q347K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Q348K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Q348K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Q362K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Q382K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Q348K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Q359K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Q359K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Q362K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	348					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATAATCTCTTGCTTTCGTGCT	0.353																																																	0													105.0	103.0	104.0					4																	114386752		2203	4300	6503	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1042C>A	4.37:g.114386752G>T	ENSP00000339740:p.Gln348Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q373K	ENST00000342666.5	37	c.1117	CCDS3703.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.242549|5.242549	0.95272|0.95272	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000513132|ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738;ENST00000509594	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.99	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64832|0.64832	0.2634|0.2634	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|P;P;D;P;D	.|0.62365	.|0.949;0.925;0.984;0.812;0.991	.|P;P;P;P;D	.|0.79784	.|0.777;0.79;0.867;0.615;0.993	T|T	0.58907|0.58907	-0.7553|-0.7553	5|10	.|0.20046	.|T	.|0.44	.|.	19.3976|19.3976	0.94612|0.94612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;359;362;348;348	.|E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.|.;.;.;.;KCC2D_HUMAN	E|K	51|348;373;368;362;359;348;382;348;359;347;362;382;348;359;141	.|ENSP00000378032:Q348K;ENSP00000415248:Q373K;ENSP00000415707:Q368K;ENSP00000406131:Q362K;ENSP00000378034:Q359K;ENSP00000296402:Q348K;ENSP00000425824:Q382K;ENSP00000339740:Q348K;ENSP00000423482:Q359K;ENSP00000423677:Q347K;ENSP00000378030:Q362K;ENSP00000424245:Q382K;ENSP00000369098:Q348K;ENSP00000422566:Q359K;ENSP00000423753:Q141K	.|ENSP00000296402:Q348K	A|Q	-|-	2|1	0|0	CAMK2D|CAMK2D	114606201|114606201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.421000|9.421000	0.97455|0.97455	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	GCA|CAA	CAMK2D	-	pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom		0.353	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	G			114386752	-1	no_errors	ENST00000454265	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC37	348807	genome.wustl.edu	37	3	126151933	126151933	+	Silent	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:126151933G>C	ENST00000352312.1	+	14	1407	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	CCDC37_ENST00000505024.1_Silent_p.L437L|CCDC37_ENST00000393425.1_Silent_p.L437L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	436										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCAACCAGCTGAAGCAGTGGG	0.577																																																	0													95.0	82.0	86.0					3																	126151933		2203	4300	6503	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1308G>C	3.37:g.126151933G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.L437	ENST00000352312.1	37	c.1311	CCDS3037.1	3																																																																																			CCDC37	-	superfamily_SuperAg_toxin_C_Staph/Strep		0.577	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126151933	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	1.000	C
CCL22	6367	genome.wustl.edu	37	16	57397455	57397455	+	Silent	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:57397455C>A	ENST00000219235.4	+	3	282	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	79					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GTGCCGATCCCAGAGTGCCCT	0.542																																																	0													113.0	94.0	101.0					16																	57397455		2198	4300	6498	SO:0001819	synonymous_variant	6367			U83171	CCDS10778.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102962	ENSG00000102962		"""Chemokine ligands"", ""Endogenous ligands"""	10621	protein-coding gene	gene with protein product		602957	"""small inducible cytokine subfamily A (Cys-Cys), member 22"""	SCYA22		9151897, 9691168	Standard	NM_002990		Approved	MDC, STCP-1, ABCD-1, DC/B-CK, A-152E5.1, MGC34554	uc002elh.3	O00626	OTTHUMG00000133454	ENST00000219235.4:c.237C>A	16.37:g.57397455C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0Q6|B2R4W2	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8	p.P79	ENST00000219235.4	37	c.237	CCDS10778.1	16																																																																																			CCL22	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8		0.542	CCL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL22	HGNC	protein_coding	OTTHUMT00000257328.1	C	NM_002990		57397455	+1	no_errors	ENST00000219235	ensembl	human	known	70_37	silent	SNP	0.924	A
CCPG1	9236	genome.wustl.edu	37	15	55677852	55677852	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:55677852C>T	ENST00000310958.6	-	3	419	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	CCPG1_ENST00000425574.3_Missense_Mutation_p.E41K|CCPG1_ENST00000569205.1_Missense_Mutation_p.E41K|CCPG1_ENST00000442196.3_Missense_Mutation_p.E41K|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	41	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GATGAACATTCTGGGGCGGGC	0.378																																																	0													48.0	49.0	49.0					15																	55677852		1815	4078	5893	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.121G>A	15.37:g.55677852C>T	ENSP00000311656:p.Glu41Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.E41K	ENST00000310958.6	37	c.121	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629934	0.67015	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.26373	3.54;3.55;1.74	5.26	4.33	0.51752	.	0.191074	0.45361	D	0.000368	T	0.43919	0.1269	M	0.77820	2.39	0.18873	N	0.999987	P;D;P	0.57899	0.929;0.981;0.929	P;P;P	0.55303	0.773;0.742;0.773	T	0.40308	-0.9570	10	0.72032	D	0.01	.	12.1867	0.54243	0.0:0.8278:0.1722:0.0	.	41;41;41	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	K	41	ENSP00000311656:E41K;ENSP00000403400:E41K;ENSP00000415128:E41K	ENSP00000311656:E41K	E	-	1	0	DYX1C1	53465144	0.217000	0.23597	0.066000	0.19879	0.519000	0.34347	3.427000	0.52785	1.331000	0.45412	0.650000	0.86243	GAA	CCPG1	-	NULL		0.378	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55677852	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.125	T
CD101	9398	genome.wustl.edu	37	1	117559730	117559730	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:117559730C>T	ENST00000256652.4	+	5	1305	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	CD101_ENST00000369470.1_Missense_Mutation_p.S416F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	416	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S416F(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGTCATGTCTACCAAGAAC	0.413																																																	1	Substitution - Missense(1)	urinary_tract(1)											92.0	78.0	83.0					1																	117559730		2203	4300	6503	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1247C>T	1.37:g.117559730C>T	ENSP00000256652:p.Ser416Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S416F	ENST00000256652.4	37	c.1247	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	2.339	-0.351482	0.05173	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.22336	1.96;1.96	4.83	1.84	0.25277	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.772602	0.11378	N	0.570109	T	0.05227	0.0139	L	0.41027	1.25	0.19775	N	0.99996	B	0.10296	0.003	B	0.14578	0.011	T	0.40001	-0.9586	10	0.34782	T	0.22	-1.3938	4.2248	0.10575	0.1815:0.6269:0.0:0.1916	.	416	Q93033	IGSF2_HUMAN	F	416	ENSP00000256652:S416F;ENSP00000358482:S416F	ENSP00000256652:S416F	S	+	2	0	CD101	117361253	0.602000	0.26916	0.005000	0.12908	0.154000	0.21943	0.882000	0.28186	0.306000	0.22856	0.655000	0.94253	TCT	CD101	-	pfam_Ig_V-set,pfam_Ig_I-set,pfscan_Ig-like		0.413	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	C	NM_004258		117559730	+1	no_errors	ENST00000256652	ensembl	human	known	70_37	missense	SNP	0.146	T
CELF6	60677	genome.wustl.edu	37	15	72582590	72582590	+	Missense_Mutation	SNP	C	C	T	rs138690830		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:72582590C>T	ENST00000569547.1	-	4	472	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Missense_Mutation_p.R134Q|CELF6_ENST00000287202.5_Missense_Mutation_p.R134Q|CELF6_ENST00000543764.2_Missense_Mutation_p.R19Q|CELF6_ENST00000395258.2_Missense_Mutation_p.R21Q|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569311.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	134	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AAACAGCTTTCGGTCCTCTGG	0.607																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4398		0,0,2199	48.0	41.0	43.0		401,56,401	5.4	1.0	15	dbSNP_134	43	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	CELF6	NM_001172684.1,NM_001172685.1,NM_052840.4	43,43,43	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	134/455,19/345,134/482	72582590	1,12991	2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.401G>A	15.37:g.72582590C>T	ENSP00000454749:p.Arg134Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R134Q	ENST00000569547.1	37	c.401	CCDS10242.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.52|16.52	3.146260|3.146260	0.57044|0.57044	0.0|0.0	1.16E-4|1.16E-4	ENSG00000140488|ENSG00000140488	ENST00000379915|ENST00000287202;ENST00000437872;ENST00000543764;ENST00000395258	.|T;T;T	.|0.07908	.|3.15;3.15;3.15	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.32224|0.32224	0.0822|0.0822	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0	.|D;P;D;D	.|0.83275	.|0.944;0.876;0.996;0.964	T|T	0.03717|0.03717	-1.1010|-1.1010	6|10	0.66056|0.87932	D|D	0.02|0	-7.5034|-7.5034	16.3433|16.3433	0.83110|0.83110	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;19;21;134	.|B4DJB6;B4DG28;Q96J87-2;Q96J87	.|.;.;.;CELF6_HUMAN	K|Q	12|134;134;19;21	.|ENSP00000287202:R134Q;ENSP00000439956:R19Q;ENSP00000378677:R21Q	ENSP00000369247:E12K|ENSP00000287202:R134Q	E|R	-|-	1|2	0|0	CELF6|CELF6	70369644|70369644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.456000|7.456000	0.80751|0.80751	2.546000|2.546000	0.85860|0.85860	0.561000|0.561000	0.74099|0.74099	GAA|CGA	CELF6	-	pfscan_RRM_dom		0.607	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	HGNC	protein_coding	OTTHUMT00000420180.1	C	NM_052840		72582590	-1	no_errors	ENST00000569547	ensembl	human	known	70_37	missense	SNP	1.000	T
CHN2	1124	genome.wustl.edu	37	7	29438048	29438048	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:29438048C>T	ENST00000222792.6	+	5	766	c.236C>T	c.(235-237)gCc>gTc	p.A79V	CHN2_ENST00000546235.1_Missense_Mutation_p.A64V|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.A92V|CHN2_ENST00000435288.2_Missense_Mutation_p.A79V|CHN2_ENST00000539406.1_Missense_Mutation_p.A154V	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGGAGGGTGCCTACATCCTT	0.517																																					Ovarian(1;44 48 13232 18918 31480)												0													154.0	128.0	137.0					7																	29438048		2203	4300	6503	SO:0001583	missense	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.236C>T	7.37:g.29438048C>T	ENSP00000222792:p.Ala79Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.A154V	ENST00000222792.6	37	c.461	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921819	0.92319	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.44	5.44	0.79542	SH2 motif (4);	0.107173	0.64402	D	0.000005	D	0.92407	0.7590	L	0.48935	1.535	0.80722	D	1	P;D;D;D;D	0.69078	0.775;0.972;0.997;0.972;0.972	P;P;D;P;P	0.66196	0.601;0.767;0.942;0.685;0.767	D	0.92960	0.6388	10	0.72032	D	0.01	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	64;92;154;79;79	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	V	154;154;79;79;92;92;64	ENSP00000409843:A154V;ENSP00000444063:A154V;ENSP00000222792:A79V;ENSP00000400282:A79V;ENSP00000386968:A92V;ENSP00000438587:A92V;ENSP00000442812:A64V	ENSP00000222792:A79V	A	+	2	0	CHN2	29404573	1.000000	0.71417	0.997000	0.53966	0.867000	0.49689	7.249000	0.78278	2.553000	0.86117	0.467000	0.42956	GCC	CHN2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.517	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	C	NM_004067		29438048	+1	no_errors	ENST00000539406	ensembl	human	known	70_37	missense	SNP	1.000	T
CIITA	4261	genome.wustl.edu	37	16	11002911	11002911	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:11002911C>T	ENST00000324288.8	+	12	2816	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.L311L	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	895					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CACGGTGGCGCTGTGGGAGTC	0.597			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													60.0	45.0	50.0					16																	11002911		2197	4300	6497	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2683C>T	16.37:g.11002911C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.L895	ENST00000324288.8	37	c.2683	CCDS10544.1	16																																																																																			CIITA	-	NULL		0.597	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	C	NM_000246		11002911	+1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	0.964	T
CIRBP	1153	genome.wustl.edu	37	19	1270036	1270036	+	Intron	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:1270036G>C	ENST00000588030.1	+	2	254				CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000587896.1_Intron|CIRBP_ENST00000444172.2_Intron|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000585630.1_5'Flank|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000587323.1_Intron|CIRBP_ENST00000589710.1_Intron|CIRBP_ENST00000586773.1_5'Flank|CIRBP_ENST00000588230.1_Intron|CIRBP_ENST00000413636.2_Intron|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000591935.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein						mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCCAGTGAATGCTTTGT	0.557																																																	0													49.0	53.0	52.0					19																	1270036		1970	4146	6116	SO:0001627	intron_variant	148046			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.-6-891G>C	19.37:g.1270036G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT17|B4E2X2	RNA	SNP	-	NULL	ENST00000588030.1	37	NULL	CCDS12059.1	19																																																																																			CIRBP-AS1	-	-		0.557	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP-AS1	HGNC	protein_coding	OTTHUMT00000449969.1	G	NM_001280		1270036	-1	no_errors	ENST00000585832	ensembl	human	known	70_37	rna	SNP	0.001	C
CNTN3	5067	genome.wustl.edu	37	3	74344283	74344283	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:74344283G>T	ENST00000263665.6	-	18	2533	c.2506C>A	c.(2506-2508)Ctg>Atg	p.L836M		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	836	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCATAGCCCAGTAAATGTCCA	0.398																																																	0													112.0	102.0	105.0					3																	74344283		2203	4300	6503	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2506C>A	3.37:g.74344283G>T	ENSP00000263665:p.Leu836Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L836M	ENST00000263665.6	37	c.2506	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916748	0.52546	.	.	ENSG00000113805	ENST00000263665	T	0.58652	0.32	5.75	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.64404	1.975	0.47819	D	0.999523	P	0.48016	0.904	P	0.47941	0.562	T	0.64812	-0.6319	10	0.52906	T	0.07	.	14.1975	0.65682	0.0711:0.0:0.9289:0.0	.	836	Q9P232	CNTN3_HUMAN	M	836	ENSP00000263665:L836M	ENSP00000263665:L836M	L	-	1	2	CNTN3	74426973	1.000000	0.71417	0.901000	0.35422	0.962000	0.63368	4.980000	0.63812	2.708000	0.92522	0.650000	0.86243	CTG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	G	NM_020872		74344283	-1	no_errors	ENST00000263665	ensembl	human	known	70_37	missense	SNP	0.862	T
CLSTN2	64084	genome.wustl.edu	37	3	140281742	140281742	+	Missense_Mutation	SNP	C	C	T	rs542507966		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:140281742C>T	ENST00000458420.3	+	14	2492	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	768					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.R768W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCGGCGTTTCCGGATTAAGTG	0.567										HNSCC(16;0.037)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		21152	0.0		0.0	False		,,,				2504	0.0				GBM(45;858 913 3709 36904 37282)												1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											55.0	53.0	54.0					3																	140281742		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2302C>T	3.37:g.140281742C>T	ENSP00000402460:p.Arg768Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R768W	ENST00000458420.3	37	c.2302	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605311	0.66445	.	.	ENSG00000158258	ENST00000458420	T	0.36157	1.27	4.95	2.9	0.33743	.	0.361316	0.29631	N	0.011619	T	0.45518	0.1346	M	0.68593	2.085	0.40970	D	0.984695	D	0.71674	0.998	P	0.53185	0.72	T	0.46721	-0.9171	9	.	.	.	-17.3179	10.5957	0.45336	0.5482:0.4518:0.0:0.0	.	768	Q9H4D0	CSTN2_HUMAN	W	768	ENSP00000402460:R768W	.	R	+	1	2	CLSTN2	141764432	0.989000	0.36119	0.992000	0.48379	0.937000	0.57800	2.285000	0.43487	1.088000	0.41272	0.655000	0.94253	CGG	CLSTN2	-	NULL		0.567	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	C	NM_022131		140281742	+1	no_errors	ENST00000458420	ensembl	human	known	70_37	missense	SNP	0.850	T
COBL	23242	genome.wustl.edu	37	7	51258767	51258768	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:51258767_51258768delCA	ENST00000265136.7	-	4	629_630	c.464_465delTG	c.(463-465)gtgfs	p.V155fs	COBL_ENST00000395542.2_Frame_Shift_Del_p.V155fs|COBL_ENST00000395540.2_Frame_Shift_Del_p.V155fs|COBL_ENST00000441453.1_Frame_Shift_Del_p.V155fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	155					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGACCAAACGCACAGATTTCTG	0.455																																					NSCLC(189;2119 2138 12223 30818 34679)												0																																										SO:0001589	frameshift_variant	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.464_465delTG	7.37:g.51258769_51258770delCA	ENSP00000265136:p.Val155fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Del	DEL	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.V155fs	ENST00000265136.7	37	c.465_464	CCDS34637.1	7																																																																																			COBL	-	pfam_Cordon-bleu_domain		0.455	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	CA	NM_015198		51258768	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
COL27A1	85301	genome.wustl.edu	37	9	116930553	116930553	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:116930553G>A	ENST00000356083.3	+	3	1109	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	240					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGACAGGCTGACACGTACCA	0.557																																																	0													91.0	84.0	86.0					9																	116930553		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.718G>A	9.37:g.116930553G>A	ENSP00000348385:p.Asp240Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.D240N	ENST00000356083.3	37	c.718	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165958	0.21538	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.93659	-2.84;-3.26	4.84	4.84	0.62591	.	.	.	.	.	D	0.95872	0.8656	M	0.71036	2.16	0.58432	D	0.999993	D;D	0.89917	1.0;0.976	D;P	0.80764	0.994;0.554	D	0.94885	0.8042	9	0.31617	T	0.26	.	15.4568	0.75321	0.0:0.0:1.0:0.0	.	240;187	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	N	240;240;187;187	ENSP00000348385:D240N;ENSP00000391328:D187N	ENSP00000348385:D240N	D	+	1	0	COL27A1	115970374	1.000000	0.71417	0.394000	0.26270	0.107000	0.19398	5.686000	0.68211	2.217000	0.71921	0.555000	0.69702	GAC	COL27A1	-	NULL		0.557	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	G	NM_032888		116930553	+1	no_errors	ENST00000356083	ensembl	human	known	70_37	missense	SNP	0.998	A
COL3A1	1281	genome.wustl.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGGTCCCGAAGGAGGAAA	0.483																																																	0													40.0	41.0	40.0					2																	189864098		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2110G>A	2.37:g.189864098G>A	ENSP00000304408:p.Glu704Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E704K	ENST00000304636.3	37	c.2110	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925057	0.73213	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93019	-2.59;-3.15	4.96	4.96	0.65561	.	0.153604	0.29814	N	0.011139	T	0.81884	0.4917	N	0.04768	-0.165	0.58432	D	0.999994	P	0.41710	0.76	B	0.24974	0.057	T	0.83136	-0.0111	10	0.16420	T	0.52	.	18.6093	0.91277	0.0:0.0:1.0:0.0	.	704	P02461	CO3A1_HUMAN	K	704	ENSP00000304408:E704K;ENSP00000315243:E704K	ENSP00000304408:E704K	E	+	1	0	COL3A1	189572343	1.000000	0.71417	0.743000	0.31040	0.938000	0.57974	9.414000	0.97362	2.472000	0.83506	0.650000	0.86243	GAA	COL3A1	-	NULL		0.483	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	G	NM_000090		189864098	+1	no_errors	ENST00000304636	ensembl	human	known	70_37	missense	SNP	0.999	A
COL6A3	1293	genome.wustl.edu	37	2	238243461	238243461	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:238243461C>T	ENST00000295550.4	-	41	9489	c.9037G>A	c.(9037-9039)Gag>Aag	p.E3013K	COL6A3_ENST00000353578.4_Missense_Mutation_p.E2807K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E2406K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2812K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2813K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2807K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3013	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGGGGGGCTCAGCCCTCTCC	0.522																																																	0													77.0	83.0	81.0					2																	238243461		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9037G>A	2.37:g.238243461C>T	ENSP00000295550:p.Glu3013Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E3013K	ENST00000295550.4	37	c.9037	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020687	0.35606	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.29	4.42	0.53409	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.109105	0.40144	N	0.001164	T	0.32852	0.0843	L	0.59436	1.845	0.41833	D	0.990081	B;B;B	0.18461	0.001;0.002;0.028	B;B;B	0.17433	0.004;0.01;0.018	T	0.17561	-1.0365	10	0.87932	D	0	.	14.181	0.65574	0.0:0.9279:0.0:0.0721	.	2406;2807;3013	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	K	3013;2812;2807;2406;2807;2813	ENSP00000295550:E3013K;ENSP00000315609:E2812K;ENSP00000315873:E2807K;ENSP00000418285:E2406K;ENSP00000386844:E2807K;ENSP00000295546:E2813K	ENSP00000295550:E3013K	E	-	1	0	COL6A3	237908200	0.999000	0.42202	0.760000	0.31359	0.453000	0.32348	5.747000	0.68689	1.234000	0.43709	0.563000	0.77884	GAG	COL6A3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238243461	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	0.980	T
COX8A	1351	genome.wustl.edu	37	11	63742188	63742188	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:63742188G>C	ENST00000314133.3	+	1	110	c.36G>C	c.(34-36)ttG>ttC	p.L12F	AP000721.4_ENST00000535431.1_Missense_Mutation_p.L12F	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	12					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)										TGCGGGGCTTGACAGGCTCGG	0.637																																																	0													23.0	23.0	23.0					11																	63742188		2200	4294	6494	SO:0001583	missense	1351			J04823	CCDS8054.1	11q12-q13	2011-07-04	2010-04-27	2004-03-24	ENSG00000176340	ENSG00000176340	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2294	protein-coding gene	gene with protein product		123870	"""cytochrome c oxidase subunit VIII"", ""cytochrome c oxidase subunit 8A (ubiquitous)"""	COX8		2543673, 2847943	Standard	NM_004074		Approved	COX8-2, COX8L, VIII-L, COX, VIII	uc001nye.3	P10176	OTTHUMG00000167785	ENST00000314133.3:c.36G>C	11.37:g.63742188G>C	ENSP00000321260:p.Leu12Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	P15955	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8	p.L12F	ENST00000314133.3	37	c.36	CCDS8054.1	11	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313509	0.60414	.	.	ENSG00000176340	ENST00000314133	.	.	.	4.82	-0.8	0.10897	.	0.254138	0.29342	N	0.012435	T	0.62792	0.2457	.	.	.	0.28965	N	0.889612	D	0.89917	1.0	D	0.83275	0.996	T	0.60250	-0.7300	8	0.87932	D	0	-27.5252	10.2338	0.43270	0.0849:0.5895:0.3257:0.0	.	12	P10176	COX8A_HUMAN	F	12	.	ENSP00000321260:L12F	L	+	3	2	COX8A	63498764	0.592000	0.26832	0.618000	0.29105	0.319000	0.28217	0.388000	0.20735	-0.207000	0.10187	0.655000	0.94253	TTG	COX8A	-	NULL		0.637	COX8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX8A	HGNC	protein_coding	OTTHUMT00000396273.1	G	NM_004074		63742188	+1	no_errors	ENST00000314133	ensembl	human	known	70_37	missense	SNP	0.669	C
CPD	1362	genome.wustl.edu	37	17	28783348	28783348	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:28783348C>T	ENST00000225719.4	+	16	3488	c.3412C>T	c.(3412-3414)Ccc>Tcc	p.P1138S	CPD_ENST00000543464.2_Missense_Mutation_p.P891S|CPD_ENST00000584051.1_3'UTR	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1138	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CATGGGTCAGCCCAGTTGCCC	0.373																																																	0													82.0	70.0	74.0					17																	28783348		2203	4300	6503	SO:0001583	missense	1362			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3412C>T	17.37:g.28783348C>T	ENSP00000225719:p.Pro1138Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.P1138S	ENST00000225719.4	37	c.3412	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058989	0.36373	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.18174	2.23;3.34	5.01	5.01	0.66863	Peptidase M14, carboxypeptidase A (2);	0.064498	0.64402	D	0.000005	T	0.29423	0.0733	L	0.43598	1.365	0.48511	D	0.999662	P;D	0.55605	0.458;0.972	B;P	0.58721	0.137;0.844	T	0.01195	-1.1422	10	0.23891	T	0.37	.	17.3345	0.87276	0.0:1.0:0.0:0.0	.	891;1138	F5GZH6;O75976	.;CBPD_HUMAN	S	1138;891	ENSP00000225719:P1138S;ENSP00000444443:P891S	ENSP00000225719:P1138S	P	+	1	0	CPD	25807474	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	4.428000	0.59894	2.329000	0.79093	0.655000	0.94253	CCC	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.373	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	C	NM_001304		28783348	+1	no_errors	ENST00000225719	ensembl	human	known	70_37	missense	SNP	1.000	T
CPT1B	1375	genome.wustl.edu	37	22	51014666	51014666	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:51014666C>T	ENST00000360719.2	-	6	797	c.660G>A	c.(658-660)caG>caA	p.Q220Q	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.Q220Q|CPT1B_ENST00000312108.7_Silent_p.Q220Q|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000395650.2_Silent_p.Q220Q|CPT1B_ENST00000405237.3_Silent_p.Q220Q|CPT1B_ENST00000457250.1_Silent_p.Q186Q|CPT1B_ENST00000434492.2_Silent_p.Q17Q	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	220					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGGTATTTCTGCAGCCTGG	0.552											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)												0													94.0	89.0	91.0					22																	51014666		2203	4300	6503	SO:0001819	synonymous_variant	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.660G>A	22.37:g.51014666C>T		Somatic	974	WXS	Illumina HiSeq	Phase_IV	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	pfam_Carn_acyl_trans	p.Q220	ENST00000360719.2	37	c.660	CCDS14098.1	22																																																																																			CPT1B	-	pfam_Carn_acyl_trans		0.552	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	C	NM_152246		51014666	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	silent	SNP	1.000	T
CRK	1398	genome.wustl.edu	37	17	1326941	1326941	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:1326941C>T	ENST00000300574.2	-	3	921	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	RP11-818O24.3_ENST00000570924.1_RNA|CRK_ENST00000398970.5_Missense_Mutation_p.R204Q|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR|RP11-818O24.3_ENST00000576825.1_RNA	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	261	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ACCAGCTCACCGACCTGCAGG	0.498																																																	0													171.0	134.0	147.0					17																	1326941		2203	4300	6503	SO:0001583	missense	1398			D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.781G>A	17.37:g.1326941C>T	ENSP00000300574:p.Gly261Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.G261S	ENST00000300574.2	37	c.781	CCDS11002.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.73|19.73	3.882145|3.882145	0.72294|0.72294	.|.	.|.	ENSG00000167193|ENSG00000167193	ENST00000300574|ENST00000398970	T|T	0.38077|0.19250	1.16|2.16	5.9|5.9	5.9|5.9	0.94986|0.94986	Src homology-3 domain (2);Variant SH3 (1);|.	0.251330|.	0.47093|.	D|.	0.000248|.	T|T	0.20780|0.20780	0.0500|0.0500	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.52170	1.0|0.951	D|B	0.97110|0.41412	1.0|0.356	T|T	0.01024|0.01024	-1.1477|-1.1477	9|8	0.87932|0.28530	D|T	0|0.3	-23.7139|-23.7139	17.7661|17.7661	0.88478|0.88478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	261|204	P46108|P46108-2	CRK_HUMAN|.	S|Q	261|204	ENSP00000300574:G261S|ENSP00000381942:R204Q	ENSP00000300574:G261S|ENSP00000381942:R204Q	G|R	-|-	1|2	0|0	CRK|CRK	1273691|1273691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GGT|CGG	CRK	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.498	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRK	HGNC	protein_coding	OTTHUMT00000206679.1	C	NM_016823		1326941	-1	no_errors	ENST00000300574	ensembl	human	known	70_37	missense	SNP	1.000	T
CYB5R1	51706	genome.wustl.edu	37	1	202935026	202935026	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:202935026G>C	ENST00000367249.4	-	4	408	c.334C>G	c.(334-336)Ctt>Gtt	p.L112V	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	112	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TTGATGACAAGATCCACATAG	0.493																																																	0													141.0	118.0	126.0					1																	202935026		2203	4300	6503	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.334C>G	1.37:g.202935026G>C	ENSP00000356218:p.Leu112Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.L112V	ENST00000367249.4	37	c.334	CCDS1431.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.538005|4.538005	0.85917|0.85917	.|.	.|.	ENSG00000159348|ENSG00000159348	ENST00000446185|ENST00000367249	.|D	.|0.88124	.|-2.34	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.94195|0.94195	0.8137|0.8137	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D	.|0.61080	.|0.989	.|D	.|0.64042	.|0.921	D|D	0.94658|0.94658	0.7845|0.7845	5|10	.|0.87932	.|D	.|0	-3.1844|-3.1844	17.8272|17.8272	0.88669|0.88669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|112	.|Q9UHQ9	.|NB5R1_HUMAN	M|V	43|112	.|ENSP00000356218:L112V	.|ENSP00000356218:L112V	I|L	-|-	3|1	3|0	CYB5R1|CYB5R1	201201649|201201649	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	5.213000|5.213000	0.65230|0.65230	2.818000|2.818000	0.97014|0.97014	0.591000|0.591000	0.81541|0.81541	ATC|CTT	CYB5R1	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl		0.493	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	G	NM_016243		202935026	-1	no_errors	ENST00000367249	ensembl	human	known	70_37	missense	SNP	1.000	C
DACH1	1602	genome.wustl.edu	37	13	72204688	72204688	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr13:72204688C>T	ENST00000359684.2	-	3	1131	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Splice_Site_p.D378N|DACH1_ENST00000305425.4_Splice_Site_p.G378R			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	378	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TAAAACTTACCGACACTTGAA	0.373																																																	0													207.0	187.0	194.0					13																	72204688		1857	4102	5959	SO:0001630	splice_region_variant	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1132+1G>A	13.37:g.72204688C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.G378S	ENST00000359684.2	37	c.1132		13	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.954098|3.954098|3.954098	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000165659|ENSG00000165659|ENSG00000165659	ENST00000313174|ENST00000305425|ENST00000359684;ENST00000377826	T|T|T	0.31510|0.33865|0.80214	1.49|1.39|-1.35	6.16|6.16|6.16	6.16|6.16|6.16	0.99307|0.99307|0.99307	.|.|.	.|0.000000|0.000000	.|0.85682|0.85682	.|D|D	.|0.000000|0.000000	D|D|D	0.84665|0.84665|0.84665	0.5522|0.5522|0.5522	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|P|.	0.76494|0.42248|.	0.999|0.774|.	D|B|.	0.64595|0.26614|.	0.927|0.071|.	T|T|T	0.80415|0.80415|0.80415	-0.1392|-0.1392|-0.1392	8|9|7	.|.|.	.|.|.	.|.|.	-12.1898|-12.1898|-12.1898	20.8598|20.8598|20.8598	0.99761|0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	376|376|.	Q9UI36-3|Q9UI36-2|.	.|.|.	N|R|S	378|378|378	ENSP00000318506:D378N|ENSP00000304994:G378R|ENSP00000352712:G378S	.|.|.	D|G|G	-|-|-	1|1|1	0|0|0	DACH1|DACH1|DACH1	71102689|71102689|71102689	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.976000|0.976000|0.976000	0.42696|0.42696|0.42696	0.867000|0.867000|0.867000	0.49689|0.49689|0.49689	7.395000|7.395000|7.395000	0.79876|0.79876|0.79876	2.937000|2.937000|2.937000	0.99478|0.99478|0.99478	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|GGA|GGC	DACH1	-	NULL		0.373	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	C	NM_004392	Missense_Mutation	72204688	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	1.000	T
DAXX	1616	genome.wustl.edu	37	6	33288313	33288313	+	Silent	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:33288313C>G	ENST00000374542.5	-	4	1299	c.1095G>C	c.(1093-1095)cgG>cgC	p.R365R	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.R290R|DAXX_ENST00000266000.6_Silent_p.R365R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	365	Interaction with histone H3.3.|Necessary for interaction with USP7.			R -> Q (in Ref. 2; AAB66585). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGGCCAAACTCCGGTTTTCCC	0.532			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													68.0	66.0	67.0					6																	33288313		2203	4300	6503	SO:0001819	synonymous_variant	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1095G>C	6.37:g.33288313C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	pfam_Daxx	p.R365	ENST00000374542.5	37	c.1095	CCDS4776.1	6																																																																																			DAXX	-	pfam_Daxx		0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	C			33288313	-1	no_errors	ENST00000266000	ensembl	human	known	70_37	silent	SNP	0.120	G
DDX43	55510	genome.wustl.edu	37	6	74121973	74121973	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:74121973G>C	ENST00000370336.4	+	11	1484	c.1326G>C	c.(1324-1326)ttG>ttC	p.L442F	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	442	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATCTTATTTGAAAGAACCAA	0.308																																																	0													193.0	175.0	181.0					6																	74121973		2203	4300	6503	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1326G>C	6.37:g.74121973G>C	ENSP00000359361:p.Leu442Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L442F	ENST00000370336.4	37	c.1326	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517892	0.44763	.	.	ENSG00000080007	ENST00000370336	T	0.06142	3.34	5.22	2.45	0.29901	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.00834	-1.1547	10	0.87932	D	0	-22.8609	8.3171	0.32106	0.3892:0.0:0.6108:0.0	.	442	Q9NXZ2	DDX43_HUMAN	F	442	ENSP00000359361:L442F	ENSP00000359361:L442F	L	+	3	2	DDX43	74178694	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	0.843000	0.27640	0.292000	0.22492	0.561000	0.74099	TTG	DDX43	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.308	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	G	NM_018665		74121973	+1	no_errors	ENST00000370336	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK11	139818	genome.wustl.edu	37	X	117695418	117695418	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:117695418G>A	ENST00000276202.7	+	7	694	c.631G>A	c.(631-633)Gag>Aag	p.E211K	DOCK11_ENST00000276204.6_Missense_Mutation_p.E211K	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	211	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTATAAAGATGAGAAAAATTC	0.383																																																	0													106.0	97.0	100.0					X																	117695418		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.631G>A	X.37:g.117695418G>A	ENSP00000276202:p.Glu211Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E211K	ENST00000276202.7	37	c.631	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	g	35	5.432442	0.96150	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.74315	-0.83;-0.83	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.128774	0.56097	D	0.000038	D	0.85305	0.5666	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.86167	0.1597	10	0.59425	D	0.04	-2.7396	18.1276	0.89591	0.0:0.0:1.0:0.0	.	211	Q5JSL3	DOC11_HUMAN	K	211	ENSP00000276204:E211K;ENSP00000276202:E211K	ENSP00000276202:E211K	E	+	1	0	DOCK11	117579446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.326000	0.96389	2.405000	0.81733	0.417000	0.27973	GAG	DOCK11	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117695418	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56437583	56437583	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:56437583G>T	ENST00000361203.3	-	48	12890	c.12883C>A	c.(12883-12885)Cca>Aca	p.P4295T	DST_ENST00000421834.2_Missense_Mutation_p.P2209T|DST_ENST00000370754.5_Missense_Mutation_p.P4475T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.P4297T|DST_ENST00000244364.6_Missense_Mutation_p.P1883T|DST_ENST00000446842.2_Missense_Mutation_p.P3971T|DST_ENST00000370788.2_Missense_Mutation_p.P2209T			Q03001	DYST_HUMAN	dystonin	4295					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTTTCCTGGCACATCTACT	0.393																																																	0													71.0	68.0	69.0					6																	56437583		1835	4089	5924	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12883C>A	6.37:g.56437583G>T	ENSP00000354508:p.Pro4295Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.P4475T	ENST00000361203.3	37	c.13423		6	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354310	0.61293	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65916	1.08;-0.1;-0.15;0.03;0.83;-0.01;-0.18	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000072	T	0.74076	0.3669	M	0.75264	2.295	0.28093	N	0.931715	D;D;D;D;P	0.89917	1.0;0.999;1.0;0.999;0.855	D;D;D;P;P	0.83275	0.996;0.985;0.995;0.895;0.544	T	0.66052	-0.6019	9	0.17369	T	0.5	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	2209;4297;4475;4295;1883	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	1883;4475;4297;2209;3971;2209;4295	ENSP00000244364:P1883T;ENSP00000359790:P4475T;ENSP00000359805:P4297T;ENSP00000400883:P2209T;ENSP00000393645:P3971T;ENSP00000359824:P2209T;ENSP00000354508:P4295T	ENSP00000244364:P1883T	P	-	1	0	DST	56545542	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.263000	0.78421	2.840000	0.97914	0.655000	0.94253	CCA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56437583	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	T
DUSP10	11221	genome.wustl.edu	37	1	221875661	221875662	+	3'UTR	INS	-	-	A	rs3215279		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:221875661_221875662insA	ENST00000366899.3	-	0	1779_1780				DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTCCCAACTACAAAAAAAAAAA	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	11221			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*93->T	1.37:g.221875672_221875672dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTB4|Q6GSI4|Q9H9Z5	RNA	INS	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-		0.351	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	-	NM_007207		221875662	-1	no_errors	ENST00000468085	ensembl	human	known	70_37	rna	INS	0.001:0.040	A
DYM	54808	genome.wustl.edu	37	18	46783450	46783450	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr18:46783450A>C	ENST00000269445.6	-	13	1847	c.1390T>G	c.(1390-1392)Ttg>Gtg	p.L464V	DYM_ENST00000442713.2_Missense_Mutation_p.L274V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	464					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AAAGCTGCCAAACAATTTGTG	0.368																																																	0													132.0	105.0	114.0					18																	46783450		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1390T>G	18.37:g.46783450A>C	ENSP00000269445:p.Leu464Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.L464V	ENST00000269445.6	37	c.1390	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644930	0.67358	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.88586	-2.4;-2.4	5.54	-1.62	0.08372	.	0.000000	0.85682	D	0.000000	D	0.93654	0.7973	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;1.0	D;D;D;D	0.91635	0.994;0.999;0.992;0.998	D	0.91712	0.5382	10	0.87932	D	0	-10.6399	10.2461	0.43341	0.5736:0.0:0.4264:0.0	.	274;18;286;464	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	V	69;274;464	ENSP00000395942:L274V;ENSP00000269445:L464V	ENSP00000269445:L464V	L	-	1	2	DYM	45037448	1.000000	0.71417	0.360000	0.25837	0.875000	0.50365	1.261000	0.32980	-0.550000	0.06183	0.533000	0.62120	TTG	DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold		0.368	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	A	NM_017653		46783450	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	0.989	C
ECHDC2	55268	genome.wustl.edu	37	1	53377455	53377455	+	Silent	SNP	A	A	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:53377455A>G	ENST00000371522.4	-	2	222	c.129T>C	c.(127-129)acT>acC	p.T43T	ECHDC2_ENST00000358358.5_Silent_p.T43T|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000480312.2_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	43					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCAGAATCTCAGTGATCCCTG	0.617																																																	0													55.0	51.0	52.0					1																	53377455		2203	4300	6503	SO:0001819	synonymous_variant	55268			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.129T>C	1.37:g.53377455A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ36|Q9NV38	Silent	SNP	pfam_Crotonase_core	p.T43	ENST00000371522.4	37	c.129	CCDS55600.1	1																																																																																			ECHDC2	-	NULL		0.617	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	A	NM_018281		53377455	-1	no_errors	ENST00000371522	ensembl	human	known	70_37	silent	SNP	0.994	G
EFNB2	1948	genome.wustl.edu	37	13	107148128	107148128	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr13:107148128C>T	ENST00000245323.4	-	3	616	c.467G>A	c.(466-468)aGa>aAa	p.R156K		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	156	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCATGGCTCTTGTCTGGCA	0.453																																																	0													336.0	294.0	308.0					13																	107148128		2203	4300	6503	SO:0001583	missense	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.467G>A	13.37:g.107148128C>T	ENSP00000245323:p.Arg156Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV56	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.R156K	ENST00000245323.4	37	c.467	CCDS9507.1	13	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531029	0.27387	.	.	ENSG00000125266	ENST00000245323	D	0.92965	-3.14	5.49	4.53	0.55603	Cupredoxin (2);	0.085167	0.85682	D	0.000000	T	0.76941	0.4058	N	0.05078	-0.115	0.45108	D	0.998126	B	0.02656	0.0	B	0.08055	0.003	T	0.68965	-0.5270	10	0.10902	T	0.67	.	3.5354	0.07792	0.0:0.647:0.0:0.353	.	156	P52799	EFNB2_HUMAN	K	156	ENSP00000245323:R156K	ENSP00000245323:R156K	R	-	2	0	EFNB2	105946129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.939000	0.56591	2.583000	0.87209	0.561000	0.74099	AGA	EFNB2	-	pfam_Ephrin,superfamily_Cupredoxin		0.453	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4	C	NM_004093		107148128	-1	no_errors	ENST00000245323	ensembl	human	known	70_37	missense	SNP	1.000	T
EFS	10278	genome.wustl.edu	37	14	23828654	23828654	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr14:23828654G>T	ENST00000216733.3	-	4	1640	c.1033C>A	c.(1033-1035)Cct>Act	p.P345T	EFS_ENST00000351354.3_Missense_Mutation_p.P252T|EFS_ENST00000429593.2_Missense_Mutation_p.P176T|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	345	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCATAACCAGGCAGGCGGGGT	0.687																																																	0													40.0	39.0	39.0					14																	23828654		2036	3996	6032	SO:0001583	missense	10278			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1033C>A	14.37:g.23828654G>T	ENSP00000216733:p.Pro345Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.P345T	ENST00000216733.3	37	c.1033	CCDS9595.1	14	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754769	0.31046	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57752	0.38;0.77;0.84	4.69	2.86	0.33363	.	0.350591	0.29668	N	0.011517	T	0.32406	0.0828	N	0.24115	0.695	0.34648	D	0.721303	P;P;B	0.39282	0.666;0.51;0.19	B;B;B	0.36666	0.162;0.23;0.063	T	0.36553	-0.9743	10	0.27082	T	0.32	-2.2671	7.0242	0.24930	0.2045:0.0:0.7955:0.0	.	176;252;345	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	345;252;176	ENSP00000216733:P345T;ENSP00000340607:P252T;ENSP00000416684:P176T	ENSP00000216733:P345T	P	-	1	0	EFS	22898494	1.000000	0.71417	0.999000	0.59377	0.448000	0.32197	1.166000	0.31834	0.600000	0.29862	0.655000	0.94253	CCT	EFS	-	NULL		0.687	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	HGNC	protein_coding	OTTHUMT00000071770.2	G			23828654	-1	no_errors	ENST00000216733	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184038632	184038632	+	Intron	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:184038632C>T	ENST00000346169.2	+	9	901				EIF4G1_ENST00000424196.1_Intron|EIF4G1_ENST00000435046.2_Intron|EIF4G1_ENST00000434061.2_Intron|EIF4G1_ENST00000414031.1_Intron|EIF4G1_ENST00000319274.6_Intron|EIF4G1_ENST00000382330.3_Intron|EIF4G1_ENST00000411531.1_Intron|EIF4G1_ENST00000352767.3_Intron|EIF4G1_ENST00000441154.1_Intron|EIF4G1_ENST00000427845.1_Intron|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000342981.4_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATTTCTAGGCAGAGCTAAAG	0.493																																																	0																																										SO:0001627	intron_variant	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.631-83C>T	3.37:g.184038632C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	NULL	p.A47V	ENST00000346169.2	37	c.140	CCDS3259.1	3																																																																																			EIF4G1	-	NULL		0.493	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	C	NM_182917		184038632	+1	no_errors	ENST00000442406	ensembl	human	known	70_37	missense	SNP	1.000	T
ELTD1	64123	genome.wustl.edu	37	1	79358831	79358831	+	Missense_Mutation	SNP	C	C	T	rs200701720		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:79358831C>T	ENST00000370742.3	-	13	1856	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	598					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAGTGTGACGAAAAACTTT	0.303																																																	0								C	HIS/ARG	0,3640		0,0,1820	70.0	66.0	67.0		1793	5.6	1.0	1	dbSNP_134	67	1,8135		0,1,4067	no	missense	ELTD1	NM_022159.3	29	0,1,5887	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	598/691	79358831	1,11775	1820	4068	5888	SO:0001583	missense	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1793G>A	1.37:g.79358831C>T	ENSP00000359778:p.Arg598His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R598H	ENST00000370742.3	37	c.1793	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943456	0.73672	0.0	1.23E-4	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.46063	0.88;0.88	5.55	5.55	0.83447	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.65320	2	0.80722	D	1	D	0.58970	0.984	D	0.63192	0.912	T	0.45483	-0.9258	9	.	.	.	.	13.7646	0.62988	0.0:0.9268:0.0:0.0732	.	598	Q9HBW9	ELTD1_HUMAN	H	598;56	ENSP00000359778:R598H;ENSP00000383813:R56H	.	R	-	2	0	ELTD1	79131419	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.819000	0.55686	2.611000	0.88343	0.655000	0.94253	CGT	ELTD1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.303	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	C	NM_022159		79358831	-1	no_errors	ENST00000370742	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNN1	3780	genome.wustl.edu	37	19	18092652	18092652	+	Silent	SNP	G	G	A	rs565285734		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:18092652G>A	ENST00000222249.9	+	5	952	c.633G>A	c.(631-633)gcG>gcA	p.A211A		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	211					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CGTGGACGGCGCGGCTGGCCT	0.682													g|||	1	0.000199681	0.0	0.0	5008	,	,		11517	0.0		0.001	False		,,,				2504	0.0																0													21.0	24.0	23.0					19																	18092652		2192	4278	6470	SO:0001819	synonymous_variant	0			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.633G>A	19.37:g.18092652G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5KR10|Q6DJU4	RNA	SNP	-	NULL	ENST00000222249.9	37	NULL		19																																																																																			CTB-52I2.8	-	-		0.682	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000105642	Clone_based_vega_gene	protein_coding	OTTHUMT00000471896.2	G	NM_002248		18092652	+1	no_errors	ENST00000601725	ensembl	human	known	70_37	rna	SNP	0.970	A
AP001347.6	0	genome.wustl.edu	37	21	15461085	15461085	+	RNA	DEL	G	G	-	rs199958475|rs9917537	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr21:15461085delG	ENST00000428809.1	+	0	372				AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA																							CTTaaaaaaagaaaagaaaag	0.338																																																	0																																												0																															21.37:g.15461085delG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000428809.1	37	NULL		21																																																																																			AP001347.6	-	-		0.338	AP001347.6-001	KNOWN	basic	antisense	ENSG00000224905	Clone_based_vega_gene	antisense	OTTHUMT00000157812.1	G			15461085	+1	no_errors	ENST00000448463	ensembl	human	known	70_37	rna	DEL	0.024	-
MYADM	91663	genome.wustl.edu	37	19	54379103	54379104	+	3'UTR	INS	-	-	A	rs75956082|rs75209913|rs566590150|rs369211393		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:54379103_54379104insA	ENST00000391769.2	+	0	2600_2601				MYADM_ENST00000336967.3_3'UTR|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_3'UTR|MYADM_ENST00000391771.1_3'UTR	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		gactccatctcaaaaaaaaaaa	0.5																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.*1352->A	19.37:g.54379114_54379114dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	INS	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-		0.500	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1	-	NM_138373		54379104	-1	no_errors	ENST00000413496	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
LOC101929268	101929268	genome.wustl.edu	37	8	49504301	49504301	+	lincRNA	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:49504301G>A	ENST00000430626.1	+	0	669				RP11-770E5.1_ENST00000522575.1_RNA																							CACCAAGATTGCATAACCAGG	0.547																																																	0													49.0	47.0	47.0					8																	49504301		692	1591	2283			0																															8.37:g.49504301G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430626.1	37	NULL		8																																																																																			AC026904.1	-	-		0.547	AC026904.1-001	KNOWN	basic	lincRNA	ENSG00000233858	Clone_based_vega_gene	lincRNA	OTTHUMT00000280498.1	G			49504301	+1	no_errors	ENST00000430626	ensembl	human	known	70_37	rna	SNP	0.007	A
AP1G2	8906	genome.wustl.edu	37	14	24030408	24030408	+	Intron	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr14:24030408G>A	ENST00000308724.5	-	18	2749				RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|AP1G2_ENST00000397120.3_Intron	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CACACAGGAAGAAGCAGGGTC	0.507																																																	0																																										SO:0001627	intron_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1993+96C>T	14.37:g.24030408G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS51|O75504	RNA	SNP	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																			RP11-66N24.3	-	-		0.507	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4	G	NM_003917		24030408	+1	no_errors	ENST00000555968	ensembl	human	known	70_37	rna	SNP	0.000	A
ACSF3	197322	genome.wustl.edu	37	16	89180980	89180980	+	Intron	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:89180980G>A	ENST00000317447.4	+	6	1503				ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Intron|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3						fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		ACCCACATTCGGACTGAAGGG	0.647																																																	0																																										SO:0001627	intron_variant	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1126+85G>A	16.37:g.89180980G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	RNA	SNP	-	NULL	ENST00000317447.4	37	NULL	CCDS10974.1	16																																																																																			CTD-2555A7.3	-	-		0.647	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261546	Clone_based_vega_gene	protein_coding	OTTHUMT00000269919.1	G	NM_174917		89180980	-1	no_errors	ENST00000562782	ensembl	human	known	70_37	rna	SNP	0.000	A
EPS8	2059	genome.wustl.edu	37	12	15813561	15813561	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:15813561C>A	ENST00000281172.5	-	10	1360	c.924G>T	c.(922-924)agG>agT	p.R308S	EPS8_ENST00000543523.1_Missense_Mutation_p.R308S|EPS8_ENST00000543612.1_Missense_Mutation_p.R308S|EPS8_ENST00000540613.1_Missense_Mutation_p.R48S|EPS8_ENST00000542903.1_Missense_Mutation_p.R48S	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	308					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTGGTCCTTTCCTTTTACCTT	0.403																																																	0													122.0	116.0	118.0					12																	15813561		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.924G>T	12.37:g.15813561C>A	ENSP00000281172:p.Arg308Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.R308S	ENST00000281172.5	37	c.924	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333588	0.60853	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.18	4.29	0.51040	.	0.437156	0.27315	N	0.019937	T	0.34454	0.0898	L	0.31926	0.97	0.39501	D	0.968209	B	0.09022	0.002	B	0.14578	0.011	T	0.25606	-1.0127	10	0.87932	D	0	-3.1665	13.8074	0.63240	0.0:0.9266:0.0:0.0734	.	308	Q12929	EPS8_HUMAN	S	308;308;308;48;48;308	ENSP00000441867:R308S;ENSP00000281172:R308S;ENSP00000442388:R308S;ENSP00000441888:R48S;ENSP00000437806:R48S	ENSP00000281172:R308S	R	-	3	2	EPS8	15704828	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	5.622000	0.67750	1.423000	0.47198	0.650000	0.86243	AGG	EPS8	-	NULL		0.403	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	C			15813561	-1	no_errors	ENST00000281172	ensembl	human	known	70_37	missense	SNP	1.000	A
F2RL2	2151	genome.wustl.edu	37	5	75913661	75913661	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:75913661C>T	ENST00000296641.4	-	2	1074	c.871G>A	c.(871-873)Gca>Aca	p.A291T	F2RL2_ENST00000504899.1_Missense_Mutation_p.A269T|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	291					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGATCGTATGCATTAAGTGTC	0.378																																																	0													94.0	83.0	87.0					5																	75913661		2203	4300	6503	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.871G>A	5.37:g.75913661C>T	ENSP00000296641:p.Ala291Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.A291T	ENST00000296641.4	37	c.871	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	C	3.289	-0.145443	0.06627	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.37235	1.21;1.21	5.3	-2.55	0.06288	GPCR, rhodopsin-like superfamily (1);	0.805653	0.11562	N	0.551675	T	0.18509	0.0444	N	0.21194	0.64	0.09310	N	1	B	0.21071	0.051	B	0.19946	0.027	T	0.28004	-1.0057	10	0.17832	T	0.49	-0.1072	5.6326	0.17518	0.2134:0.3039:0.0:0.4827	.	291	O00254	PAR3_HUMAN	T	291;269	ENSP00000296641:A291T;ENSP00000426703:A269T	ENSP00000296641:A291T	A	-	1	0	F2RL2	75949417	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.940000	0.03929	-1.025000	0.03334	-0.222000	0.12452	GCA	F2RL2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.378	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	HGNC	protein_coding	OTTHUMT00000219958.3	C			75913661	-1	no_errors	ENST00000296641	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM73A	374986	genome.wustl.edu	37	1	78245408	78245408	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:78245408G>T	ENST00000370791.3	+	1	100	c.68G>T	c.(67-69)gGc>gTc	p.G23V	FAM73A_ENST00000443751.2_Missense_Mutation_p.G23V|RNA5SP21_ENST00000410917.1_RNA	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	23						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGTACCTGGCCTGGAGCTC	0.692																																																	0													5.0	5.0	5.0					1																	78245408		2143	4182	6325	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.68G>T	1.37:g.78245408G>T	ENSP00000359827:p.Gly23Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.G23V	ENST00000370791.3	37	c.68	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897885	0.33535	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.39056	1.77;1.1	4.61	0.387	0.16259	.	0.980175	0.08281	N	0.969998	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.21917	0.037;0.017;0.017	T	0.39563	-0.9608	10	0.87932	D	0	8.6355	7.5628	0.27862	0.0968:0.5115:0.3917:0.0	.	23;23;23	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	23	ENSP00000359827:G23V;ENSP00000393675:G23V	ENSP00000359827:G23V	G	+	2	0	FAM73A	78017996	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.449000	0.21744	0.201000	0.20466	-0.172000	0.13284	GGC	FAM73A	-	NULL		0.692	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	G	NM_198549		78245408	+1	no_errors	ENST00000370791	ensembl	human	known	70_37	missense	SNP	0.000	T
FASTKD1	79675	genome.wustl.edu	37	2	170428398	170428398	+	Missense_Mutation	SNP	C	C	G	rs150915965	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:170428398C>G	ENST00000453153.2	-	2	488	c.142G>C	c.(142-144)Gat>Cat	p.D48H	FASTKD1_ENST00000453929.2_Missense_Mutation_p.D48H	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	48					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGCTCCTCATCTGTACACTTA	0.373																																																	0													99.0	92.0	94.0					2																	170428398		2203	4300	6503	SO:0001583	missense	79675			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.142G>C	2.37:g.170428398C>G	ENSP00000400513:p.Asp48His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.D48H	ENST00000453153.2	37	c.142	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731521	0.30684	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.19105	2.17;2.17	5.07	0.536	0.17138	.	0.653862	0.16583	N	0.208087	T	0.16471	0.0396	L	0.59912	1.85	0.22620	N	0.998921	B;B;B	0.28636	0.139;0.218;0.139	B;B;B	0.24701	0.025;0.055;0.025	T	0.16100	-1.0414	10	0.31617	T	0.26	-16.2255	5.1414	0.14961	0.0:0.3005:0.1722:0.5272	.	48;48;48	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	H	48	ENSP00000400513:D48H;ENSP00000403229:D48H	ENSP00000396769:D48H	D	-	1	0	FASTKD1	170136644	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.357000	0.20199	0.236000	0.21180	0.591000	0.81541	GAT	FASTKD1	-	NULL		0.373	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	C	NM_024622		170428398	-1	no_errors	ENST00000453153	ensembl	human	known	70_37	missense	SNP	0.990	G
FBN2	2201	genome.wustl.edu	37	5	127704974	127704974	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:127704974G>A	ENST00000508053.1	-	22	3123	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	FBN2_ENST00000262464.4_Missense_Mutation_p.R717C|FBN2_ENST00000508989.1_Missense_Mutation_p.R684C|Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	717	TB 3.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R717C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGAAAGGACGCACACACACT	0.483																																																	2	Substitution - Missense(2)	large_intestine(2)											181.0	141.0	154.0					5																	127704974		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2149C>T	5.37:g.127704974G>A	ENSP00000424571:p.Arg717Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.R717C	ENST00000508053.1	37	c.2149	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684778	0.47991	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92965	-3.14;-3.14;-3.14	4.35	4.35	0.52113	Matrix fibril-associated (3);TGF-beta binding (1);	0.083491	0.48767	D	0.000169	D	0.95912	0.8669	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.947	D	0.95079	0.8211	10	0.40728	T	0.16	.	18.1761	0.89761	0.0:0.0:1.0:0.0	.	684;717	D6RJI3;P35556	.;FBN2_HUMAN	C	717;717;684	ENSP00000262464:R717C;ENSP00000424571:R717C;ENSP00000425596:R684C	ENSP00000262464:R717C	R	-	1	0	FBN2	127732873	0.795000	0.28851	1.000000	0.80357	0.093000	0.18481	2.477000	0.45180	2.707000	0.92482	0.655000	0.94253	CGT	FBN2	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN		0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127704974	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	A
FCGBP	8857	genome.wustl.edu	37	19	40421395	40421395	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:40421395C>T	ENST00000221347.6	-	5	2533	c.2526G>A	c.(2524-2526)ccG>ccA	p.P842P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	842	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTCACCCGCCGGGCAGCTCT	0.687																																																	0													15.0	14.0	15.0					19																	40421395		2197	4295	6492	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2526G>A	19.37:g.40421395C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P842	ENST00000221347.6	37	c.2526	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWF_C,smart_Fol_N		0.687	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40421395	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.000	T
FCRL5	83416	genome.wustl.edu	37	1	157490329	157490329	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:157490329C>T	ENST00000361835.3	-	12	2681	c.2524G>A	c.(2524-2526)Gcg>Acg	p.A842T	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.A842T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	842					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTTCTGTTCGCGGTCAGCCCT	0.662																																																	0													15.0	16.0	15.0					1																	157490329		2201	4294	6495	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2524G>A	1.37:g.157490329C>T	ENSP00000354691:p.Ala842Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A842T	ENST00000361835.3	37	c.2524	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971888	0.34754	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.46063	0.88;0.89	4.85	1.87	0.25490	.	.	.	.	.	T	0.03739	0.0106	N	0.03608	-0.345	0.09310	N	1	B;P	0.41008	0.111;0.735	B;B	0.23018	0.005;0.043	T	0.22068	-1.0227	9	0.12103	T	0.63	.	6.6477	0.22945	0.0:0.6839:0.0:0.3161	.	842;842	A6NJE8;Q96RD9	.;FCRL5_HUMAN	T	842	ENSP00000354691:A842T;ENSP00000349434:A842T	ENSP00000349434:A842T	A	-	1	0	FCRL5	155756953	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.423000	0.21313	0.627000	0.30340	-0.262000	0.10625	GCG	FCRL5	-	NULL		0.662	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	C	NM_031281		157490329	-1	no_errors	ENST00000356953	ensembl	human	known	70_37	missense	SNP	0.000	T
FECH	2235	genome.wustl.edu	37	18	55226399	55226399	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr18:55226399G>A	ENST00000262093.5	-	7	933	c.782C>T	c.(781-783)tCt>tTt	p.S261F	FECH_ENST00000382873.3_Missense_Mutation_p.S267F	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	261					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TGAGTGAGCAGAAAACAGAAT	0.413																																																	0			GRCh37	HM080005	FECH	M							117.0	106.0	110.0					18																	55226399		2203	4300	6503	SO:0001583	missense	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.782C>T	18.37:g.55226399G>A	ENSP00000262093:p.Ser261Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	pfam_Ferrochelatase,tigrfam_Ferrochelatase	p.S267F	ENST00000262093.5	37	c.800	CCDS11964.1	18	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639486	0.87760	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.98028	-4.67;-4.67	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.93375	3.41	0.80722	D	1	D;D	0.57571	0.98;0.976	P;P	0.61940	0.896;0.833	D	0.99620	1.0983	10	0.87932	D	0	-16.1461	18.5	0.90877	0.0:0.0:1.0:0.0	.	261;267	P22830;P22830-2	HEMH_HUMAN;.	F	261;267	ENSP00000262093:S261F;ENSP00000372326:S267F	ENSP00000262093:S261F	S	-	2	0	FECH	53377397	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.944000	0.92980	2.530000	0.85305	0.655000	0.94253	TCT	FECH	-	pfam_Ferrochelatase,tigrfam_Ferrochelatase		0.413	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FECH	HGNC	protein_coding	OTTHUMT00000256098.1	G			55226399	-1	no_errors	ENST00000382873	ensembl	human	known	70_37	missense	SNP	1.000	A
FERMT2	10979	genome.wustl.edu	37	14	53324533	53324533	+	3'UTR	SNP	T	T	G	rs558570414		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr14:53324533T>G	ENST00000395631.2	-	0	2821				FERMT2_ENST00000343279.4_3'UTR|FERMT2_ENST00000341590.3_3'UTR|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATGCTTATTCAAGGACAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.*562A>C	14.37:g.53324533T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B5TJY2|Q14840|Q86TY7	RNA	SNP	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-		0.348	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	T	NM_006832		53324533	-1	no_errors	ENST00000557255	ensembl	human	known	70_37	rna	SNP	0.536	G
FOXI1	2299	genome.wustl.edu	37	5	169533237	169533237	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:169533237G>A	ENST00000306268.6	+	1	337	c.276G>A	c.(274-276)caG>caA	p.Q92Q	FOXI1_ENST00000449804.2_Silent_p.Q92Q			Q12951	FOXI1_HUMAN	forkhead box I1	92	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGTGCAGAGGCCGCTGC	0.706									Pendred syndrome																																								0													8.0	7.0	8.0					5																	169533237		2182	4251	6433	SO:0001819	synonymous_variant	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.276G>A	5.37:g.169533237G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14518|Q66SR7|Q8N6L8	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q92	ENST00000306268.6	37	c.276	CCDS4372.1	5																																																																																			FOXI1	-	NULL		0.706	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	HGNC	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188		169533237	+1	no_errors	ENST00000306268	ensembl	human	known	70_37	silent	SNP	1.000	A
FRMD4A	55691	genome.wustl.edu	37	10	13743412	13743412	+	Silent	SNP	C	C	T	rs200042373		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:13743412C>T	ENST00000357447.2	-	14	1271	c.903G>A	c.(901-903)ccG>ccA	p.P301P	FRMD4A_ENST00000358621.4_Silent_p.P286P|FRMD4A_ENST00000342409.2_Silent_p.P317P|FRMD4A_ENST00000378503.1_Silent_p.P301P|FRMD4A_ENST00000492155.1_5'UTR	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	301	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGATCAATGCCGGACATGCAT	0.527																																																	0													236.0	185.0	202.0					10																	13743412		2203	4300	6503	SO:0001819	synonymous_variant	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.903G>A	10.37:g.13743412C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P301	ENST00000357447.2	37	c.903	CCDS7101.1	10																																																																																			FRMD4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain		0.527	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	C	NM_018027		13743412	-1	no_errors	ENST00000357447	ensembl	human	known	70_37	silent	SNP	0.468	T
GAB4	128954	genome.wustl.edu	37	22	17445751	17445751	+	Splice_Site	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:17445751G>T	ENST00000400588.1	-	8	1488	c.1381C>A	c.(1381-1383)Cac>Aac	p.H461N	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	461										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCAAAGGTGTGGCTGTCATGG	0.587																																																	0													126.0	133.0	131.0					22																	17445751		2179	4293	6472	SO:0001630	splice_region_variant	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1380-1C>A	22.37:g.17445751G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H461N	ENST00000400588.1	37	c.1381	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	G	0	-2.705833	0.00096	.	.	ENSG00000215568	ENST00000400588	T	0.22336	1.96	1.92	0.88	0.19161	.	0.673920	0.15914	N	0.238465	T	0.14184	0.0343	L	0.38175	1.15	0.21579	N	0.999631	B	0.10296	0.003	B	0.12156	0.007	T	0.29549	-1.0008	10	0.21014	T	0.42	.	8.424	0.32718	0.0:0.2446:0.7554:0.0	.	461	Q2WGN9	GAB4_HUMAN	N	461	ENSP00000383431:H461N	ENSP00000383431:H461N	H	-	1	0	GAB4	15825751	1.000000	0.71417	0.137000	0.22149	0.003000	0.03518	2.749000	0.47492	0.378000	0.24764	-0.548000	0.04221	CAC	GAB4	-	NULL		0.587	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	G	XM_372882	Missense_Mutation	17445751	-1	no_errors	ENST00000400588	ensembl	human	known	70_37	missense	SNP	0.882	T
GABBR1	2550	genome.wustl.edu	37	6	29574685	29574685	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:29574685G>A	ENST00000377034.4	-	18	2541	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	GABBR1_ENST00000377016.4_Missense_Mutation_p.R674W|GABBR1_ENST00000355973.3_Missense_Mutation_p.R619W|GABBR1_ENST00000377012.4_Missense_Mutation_p.R619W|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	736					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TCAATGGTCCGGTGCAGAGGG	0.602																																																	0													72.0	61.0	65.0					6																	29574685		1511	2709	4220	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2206C>T	6.37:g.29574685G>A	ENSP00000366233:p.Arg736Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.R736W	ENST00000377034.4	37	c.2206	CCDS4663.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.563901|2.563901	0.45694|0.45694	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	.|D;D;D;D	.|0.88124	.|-2.34;-2.34;-2.34;-2.34	4.35|4.35	4.35|4.35	0.52113|0.52113	.|GPCR, family 3, C-terminal (2);	.|0.179314	.|0.38959	.|N	.|0.001505	D|D	0.91310|0.91310	0.7260|0.7260	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.65987	.|0.926;0.94;0.912	D|D	0.92624|0.92624	0.6110|0.6110	5|10	.|0.87932	.|D	.|0	-9.1207|-9.1207	14.7425|14.7425	0.69467|0.69467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|674;736;619	.|Q9UBS5-3;Q9UBS5;Q5SUJ9	.|.;GABR1_HUMAN;.	L|W	116|619;674;619;736	.|ENSP00000348248:R619W;ENSP00000366215:R674W;ENSP00000366211:R619W;ENSP00000366233:R736W	.|ENSP00000348248:R619W	P|R	-|-	2|1	0|2	GABBR1|GABBR1	29682664|29682664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.234000|0.234000	0.25298|0.25298	3.069000|3.069000	0.50026|0.50026	2.121000|2.121000	0.65114|0.65114	0.563000|0.563000	0.77884|0.77884	CCG|CGG	GABBR1	-	pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C		0.602	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29574685	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	0.998	A
GMFG	9535	genome.wustl.edu	37	19	39826106	39826106	+	Missense_Mutation	SNP	G	G	T	rs140200000		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:39826106G>T	ENST00000597595.1	-	2	277	c.69C>A	c.(67-69)ttC>ttA	p.F23L	GMFG_ENST00000595636.1_Missense_Mutation_p.F23L|GMFG_ENST00000600322.1_5'UTR|GMFG_ENST00000601387.1_Intron|GMFG_ENST00000598034.1_Missense_Mutation_p.F23L|GMFG_ENST00000253054.8_5'UTR|GMFG_ENST00000594700.1_Missense_Mutation_p.F23L|GMFG_ENST00000602185.1_Intron	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	23	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)	p.F23F(1)		breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCTCTTTTCGGAAGCGGAATT	0.562																																																	1	Substitution - coding silent(1)	skin(1)											178.0	136.0	150.0					19																	39826106		2203	4300	6503	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.69C>A	19.37:g.39826106G>T	ENSP00000472249:p.Phe23Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.F23L	ENST00000597595.1	37	c.69	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038159	0.54896	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.18	3.14	0.36123	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.64402	D	0.000005	T	0.40694	0.1127	L	0.41824	1.3	0.49213	D	0.999763	B;B	0.13594	0.001;0.008	B;B	0.15870	0.002;0.014	T	0.12528	-1.0544	9	0.11794	T	0.64	-21.4547	6.3454	0.21347	0.222:0.0:0.778:0.0	.	23;23	O60234;Q6IB37	GMFG_HUMAN;.	L	23	.	ENSP00000253054:F23L	F	-	3	2	GMFG	44517946	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.083000	0.30815	0.971000	0.38288	0.561000	0.74099	TTC	GMFG	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.562	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	G			39826106	-1	no_errors	ENST00000597595	ensembl	human	known	70_37	missense	SNP	1.000	T
GNB5	10681	genome.wustl.edu	37	15	52446256	52446256	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:52446256G>A	ENST00000261837.7	-	4	321	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GNB5_ENST00000560116.1_Missense_Mutation_p.R44W|GNB5_ENST00000396335.4_Missense_Mutation_p.R44W|GNB5_ENST00000358784.7_Missense_Mutation_p.R44W	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	86					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTCCACCCGCTCCGCCACC	0.562																																																	0													82.0	70.0	74.0					15																	52446256		2195	4293	6488	SO:0001583	missense	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.256C>T	15.37:g.52446256G>A	ENSP00000261837:p.Arg86Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.R86W	ENST00000261837.7	37	c.256	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235048	0.79800	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000358784	T;T;T	0.59224	4.98;0.28;4.98	5.54	4.57	0.56435	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055940	0.64402	D	0.000001	T	0.66973	0.2844	L	0.47190	1.495	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.968;0.99	P;B;P	0.61533	0.89;0.152;0.606	T	0.69870	-0.5028	10	0.72032	D	0.01	-28.5649	15.2252	0.73345	0.0:0.0:0.8588:0.1412	.	44;86;44	Q96F32;O14775;O14775-3	.;GBB5_HUMAN;.	W	86;44;44	ENSP00000261837:R86W;ENSP00000379626:R44W;ENSP00000351635:R44W	ENSP00000261837:R86W	R	-	1	2	GNB5	50233548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.979000	0.70508	2.608000	0.88229	0.558000	0.71614	CGG	GNB5	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu		0.562	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	G			52446256	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90074700	90074700	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:90074700C>T	ENST00000405460.2	+	64	12964	c.12868C>T	c.(12868-12870)Cgt>Tgt	p.R4290C	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4290	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4290C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACAATCATCCGTTCCAGTGG	0.438																																																	1	Substitution - Missense(1)	lung(1)											141.0	145.0	144.0					5																	90074700		2117	4245	6362	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12868C>T	5.37:g.90074700C>T	ENSP00000384582:p.Arg4290Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4290C	ENST00000405460.2	37	c.12868	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582898	0.86748	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.56275	0.47	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87759	0.2597	10	0.87932	D	0	.	19.6397	0.95753	0.0:1.0:0.0:0.0	.	4290	Q8WXG9	GPR98_HUMAN	C	4290	ENSP00000384582:R4290C	ENSP00000296619:R4290C	R	+	1	0	GPR98	90110456	1.000000	0.71417	0.125000	0.21846	0.013000	0.08279	7.031000	0.76491	2.632000	0.89209	0.655000	0.94253	CGT	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	C	NM_032119		90074700	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	T
GRAMD4	23151	genome.wustl.edu	37	22	47068805	47068805	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:47068805G>A	ENST00000406902.1	+	14	1363	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	GRAMD4_ENST00000361034.3_Missense_Mutation_p.A384T|GRAMD4_ENST00000408031.1_5'Flank			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	384					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAGGCTGCGCGCCAAGTACGA	0.597																																																	0													61.0	58.0	59.0					22																	47068805		2202	4300	6502	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1150G>A	22.37:g.47068805G>A	ENSP00000385689:p.Ala384Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.A384T	ENST00000406902.1	37	c.1150	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	g	13.09	2.132113	0.37630	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.44482	0.92;0.92	4.63	4.63	0.57726	.	0.192789	0.34268	N	0.004105	T	0.22085	0.0532	N	0.12182	0.205	0.40213	D	0.977643	P	0.44776	0.843	B	0.35770	0.21	T	0.08785	-1.0705	10	0.13470	T	0.59	-26.0921	15.3516	0.74393	0.0:0.0:1.0:0.0	.	384	Q6IC98	GRAM4_HUMAN	T	384	ENSP00000385689:A384T;ENSP00000354313:A384T	ENSP00000354313:A384T	A	+	1	0	GRAMD4	45447469	1.000000	0.71417	0.935000	0.37517	0.410000	0.31052	3.957000	0.56730	2.294000	0.77228	0.563000	0.77884	GCC	GRAMD4	-	NULL		0.597	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	G	NM_015124		47068805	+1	no_errors	ENST00000361034	ensembl	human	known	70_37	missense	SNP	0.992	A
GRIN2B	2904	genome.wustl.edu	37	12	13717247	13717247	+	Silent	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:13717247C>G	ENST00000609686.1	-	13	3134	c.2925G>C	c.(2923-2925)ctG>ctC	p.L975L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	975					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)	TGCTGTCCTTCAGCTGCAGGT	0.537																																																	0													165.0	134.0	145.0					12																	13717247		2203	4300	6503	SO:0001819	synonymous_variant	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.2925G>C	12.37:g.13717247C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L975	ENST00000609686.1	37	c.2925	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_NMDAR2_C		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	C			13717247	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	silent	SNP	0.997	G
HAPLN2	60484	genome.wustl.edu	37	1	156594401	156594401	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:156594401G>C	ENST00000255039.1	+	6	972	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	189	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTTGGACCGAGGGTCTGGA	0.726																																																	0													14.0	16.0	16.0					1																	156594401		2199	4293	6492	SO:0001583	missense	60484			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.565G>C	1.37:g.156594401G>C	ENSP00000255039:p.Glu189Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3J0	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.E189Q	ENST00000255039.1	37	c.565	CCDS1148.1	1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676786	0.47886	.	.	ENSG00000132702	ENST00000255039;ENST00000544775	T	0.10099	2.91	4.19	3.26	0.37387	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.054305	0.64402	D	0.000001	T	0.13713	0.0332	L	0.48362	1.52	0.44123	D	0.996906	D	0.69078	0.997	D	0.75020	0.985	T	0.02275	-1.1184	10	0.33940	T	0.23	-20.9425	12.9589	0.58447	0.0:0.1646:0.8354:0.0	.	189	Q9GZV7	HPLN2_HUMAN	Q	189;162	ENSP00000255039:E189Q	ENSP00000255039:E189Q	E	+	1	0	HAPLN2	154861025	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	3.932000	0.56537	1.083000	0.41159	-0.302000	0.09304	GAG	HAPLN2	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.726	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN2	HGNC	protein_coding	OTTHUMT00000081039.1	G	NM_021817		156594401	+1	no_errors	ENST00000255039	ensembl	human	known	70_37	missense	SNP	1.000	C
HCFC2	29915	genome.wustl.edu	37	12	104458473	104458473	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:104458473C>T	ENST00000229330.4	+	1	239	c.135C>T	c.(133-135)atC>atT	p.I45I	GLT8D2_ENST00000548660.1_5'Flank	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	45					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAGGGCATCGCGGATGAGC	0.711																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													26.0	28.0	27.0					12																	104458473		2202	4298	6500	SO:0001819	synonymous_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.135C>T	12.37:g.104458473C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q5|C0H5X3	Silent	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I45	ENST00000229330.4	37	c.135	CCDS9097.1	12																																																																																			HCFC2	-	NULL		0.711	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	C	NM_013320		104458473	+1	no_errors	ENST00000229330	ensembl	human	known	70_37	silent	SNP	0.999	T
HERC5	51191	genome.wustl.edu	37	4	89426997	89426997	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:89426997G>A	ENST00000264350.3	+	23	3196	c.3043G>A	c.(3043-3045)Gaa>Aaa	p.E1015K	HERC5_ENST00000508159.1_Missense_Mutation_p.E653K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	1015	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGCGCTTCAAGAAGCCATCAA	0.403																																					Esophageal Squamous(39;887 1012 34045 50514)												0													57.0	57.0	57.0					4																	89426997		2203	4300	6503	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.3043G>A	4.37:g.89426997G>A	ENSP00000264350:p.Glu1015Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E1015K	ENST00000264350.3	37	c.3043	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889425	0.33348	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.56275	0.47;0.47	4.33	1.38	0.22167	HECT (4);	1.535250	0.04446	N	0.371722	T	0.23926	0.0579	N	0.01446	-0.86	0.09310	N	1	B	0.11235	0.004	B	0.25987	0.065	T	0.27054	-1.0085	10	0.15499	T	0.54	.	2.7109	0.05174	0.3527:0.0:0.4393:0.208	.	1015	Q9UII4	HERC5_HUMAN	K	1015;653	ENSP00000264350:E1015K;ENSP00000424129:E653K	ENSP00000264350:E1015K	E	+	1	0	HERC5	89646020	0.000000	0.05858	0.005000	0.12908	0.953000	0.61014	0.358000	0.20216	0.472000	0.27344	0.591000	0.81541	GAA	HERC5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.403	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	G	NM_016323		89426997	+1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.000	A
HHLA1	10086	genome.wustl.edu	37	8	133113482	133113482	+	Intron	SNP	T	T	C	rs549416918	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:133113482T>C	ENST00000414222.1	-	3	139				HHLA1_ENST00000434736.2_Silent_p.G71G	NM_001145095.1	NP_001138567.1	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1							extracellular region (GO:0005576)				endometrium(6)|kidney(1)|lung(2)|skin(1)|stomach(2)	12						CCCGGGAATGTCCCATCTTTT	0.358																																																	0																																										SO:0001627	intron_variant	10086			AF110315		8q24	2011-03-01			ENSG00000132297	ENSG00000132297			4904	protein-coding gene	gene with protein product		604109		PLA2L		10329003	Standard	NM_001145095		Approved		uc011liy.1	C9JL84	OTTHUMG00000140390	ENST00000414222.1:c.140-1101A>G	8.37:g.133113482T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.G71	ENST00000414222.1	37	c.213		8																																																																																			HHLA1	-	NULL		0.358	HHLA1-201	KNOWN	basic|appris_principal	protein_coding	HHLA1	HGNC	protein_coding		T	XR_017860		133113482	-1	no_errors	ENST00000434736	ensembl	human	novel	70_37	silent	SNP	0.000	C
HIF1AN	55662	genome.wustl.edu	37	10	102295784	102295784	+	Silent	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:102295784C>G	ENST00000299163.6	+	1	169	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	23	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTGGAGCCCTCGGCCCCGCCT	0.692											OREG0020442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7.0	9.0	9.0					10																	102295784		2176	4250	6426	SO:0001819	synonymous_variant	55662			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.69C>G	10.37:g.102295784C>G		Somatic	1365	WXS	Illumina HiSeq	Phase_IV	D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L23	ENST00000299163.6	37	c.69	CCDS7498.1	10																																																																																			HIF1AN	-	NULL		0.692	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	C	NM_017902		102295784	+1	no_errors	ENST00000299163	ensembl	human	known	70_37	silent	SNP	0.000	G
HIP1	3092	genome.wustl.edu	37	7	75192305	75192305	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:75192305G>A	ENST00000336926.6	-	11	980	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HIP1_ENST00000434438.2_Silent_p.A318A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	318					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGGGGGATGAGGCCTCTGCAG	0.562			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													71.0	66.0	68.0					7																	75192305		2203	4300	6503	SO:0001819	synonymous_variant	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.954C>T	7.37:g.75192305G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.A318	ENST00000336926.6	37	c.954	CCDS34669.1	7																																																																																			HIP1	-	NULL		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75192305	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	silent	SNP	0.885	A
HUWE1	10075	genome.wustl.edu	37	X	53643957	53643957	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:53643957C>T	ENST00000342160.3	-	20	2388	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.R644Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.R644Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	644					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTCCTCCTCCGCATGGCTGG	0.418																																																	0													44.0	41.0	42.0					X																	53643957		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1931G>A	X.37:g.53643957C>T	ENSP00000340648:p.Arg644Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R644Q	ENST00000342160.3	37	c.1931	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.382447	0.95967	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41400	1.0;1.0;1.0	5.45	5.45	0.79879	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.60894	0.2304	L	0.53729	1.69	0.51233	D	0.999913	D	0.89917	1.0	D	0.73380	0.98	T	0.63409	-0.6644	10	0.72032	D	0.01	.	17.0476	0.86508	0.0:1.0:0.0:0.0	.	644	Q7Z6Z7	HUWE1_HUMAN	Q	644	ENSP00000340648:R644Q;ENSP00000262854:R644Q;ENSP00000218328:R644Q	ENSP00000218328:R644Q	R	-	2	0	HUWE1	53660682	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.421000	0.80204	2.289000	0.77006	0.594000	0.82650	CGG	HUWE1	-	pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold		0.418	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53643957	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T
IFNA8	3445	genome.wustl.edu	37	9	21409239	21409239	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:21409239C>T	ENST00000380205.1	+	1	94	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	22					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATTCAGCTCTCTGGGCTGTGA	0.507																																																	0													144.0	138.0	140.0					9																	21409239		2203	4300	6503	SO:0001819	synonymous_variant	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.64C>T	9.37:g.21409239C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P01565|P09236|Q5VWV7|Q5VYQ3	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L22	ENST00000380205.1	37	c.64	CCDS6507.1	9																																																																																			IFNA8	-	pfam_Interferon_alpha/beta/delta		0.507	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	HGNC	protein_coding	OTTHUMT00000051906.1	C	NM_002170		21409239	+1	no_errors	ENST00000380205	ensembl	human	known	70_37	silent	SNP	0.999	T
IGHV4-59	28392	genome.wustl.edu	37	14	107083491	107083491	+	RNA	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr14:107083491G>C	ENST00000455737.1	-	0	152									immunoglobulin heavy variable 4-59																		GCAGGTGAGGGACAGGGTCTC	0.602																																																	0													33.0	36.0	35.0					14																	107083491		1831	4069	5900			28392			L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083491G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S38C	ENST00000455737.1	37	c.113		14																																																																																			IGHV4-59	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.602	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IGHV4-59	HGNC	IG_V_gene	OTTHUMT00000324620.1	G	NG_001019		107083491	-1	no_errors	ENST00000455737	ensembl	human	known	70_37	missense	SNP	0.900	C
IPP	3652	genome.wustl.edu	37	1	46165596	46165596	+	3'UTR	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:46165596G>T	ENST00000396478.3	-	0	1899				IPP_ENST00000495072.1_5'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					GTCAGGTCCTGCATTTTCAAA	0.408																																																	0													65.0	57.0	60.0					1																	46165596		2203	4300	6503	SO:0001624	3_prime_UTR_variant	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.*42C>A	1.37:g.46165596G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A6V4|D3DQ11|Q8N5C3	RNA	SNP	-	NULL	ENST00000396478.3	37	NULL	CCDS30702.1	1																																																																																			IPP	-	-		0.408	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	G	NM_005897		46165596	-1	no_errors	ENST00000495072	ensembl	human	known	70_37	rna	SNP	0.000	T
INSL5	10022	genome.wustl.edu	37	1	67263926	67263926	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:67263926C>G	ENST00000304526.2	-	2	212	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	60						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						TTTCCTGTCTCAGCTGTATGG	0.468																																																	0													57.0	59.0	59.0					1																	67263926		2203	4300	6503	SO:0001583	missense	10022			AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"""Endogenous ligands"""	6088	protein-coding gene	gene with protein product	"""prepro-INSL5"""	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.178G>C	1.37:g.67263926C>G	ENSP00000302724:p.Glu60Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIY4|Q5VYD8	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like	p.E60Q	ENST00000304526.2	37	c.178	CCDS634.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253445	0.59212	.	.	ENSG00000172410	ENST00000304526	D	0.89415	-2.51	4.38	4.38	0.52667	Insulin-like (3);	0.327755	0.22309	N	0.061755	D	0.90150	0.6922	M	0.62723	1.935	0.30293	N	0.790189	D	0.69078	0.997	D	0.68483	0.958	D	0.85830	0.1391	10	0.48119	T	0.1	-3.27	12.3389	0.55083	0.0:1.0:0.0:0.0	.	60	Q9Y5Q6	INSL5_HUMAN	Q	60	ENSP00000302724:E60Q	ENSP00000302724:E60Q	E	-	1	0	INSL5	67036514	0.018000	0.18449	0.681000	0.30009	0.072000	0.16883	0.888000	0.28268	2.263000	0.75096	0.563000	0.77884	GAG	INSL5	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.468	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL5	HGNC	protein_coding	OTTHUMT00000025403.1	C	NM_005478		67263926	-1	no_errors	ENST00000304526	ensembl	human	known	70_37	missense	SNP	0.723	G
IL19	29949	genome.wustl.edu	37	1	207015960	207015960	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:207015960C>T	ENST00000270218.6	+	7	1466	c.527C>T	c.(526-528)tCa>tTa	p.S176L	IL19_ENST00000340758.2_Missense_Mutation_p.S214L	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	176					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GTAATGTTCTCAGCTTGATGA	0.502																																																	0													59.0	58.0	58.0					1																	207015960		2202	4293	6495	SO:0001583	missense	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.527C>T	1.37:g.207015960C>T	ENSP00000270218:p.Ser176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,prints_Interleukin-19,prints_Interleukin-24	p.S214L	ENST00000270218.6	37	c.641	CCDS1469.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161766	0.38217	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.36878	1.23;1.43	5.4	3.49	0.39957	Four-helical cytokine-like, core (1);	0.975911	0.08409	N	0.950301	T	0.25606	0.0623	N	0.22421	0.69	0.09310	N	1	B;B	0.20780	0.048;0.048	B;B	0.14023	0.01;0.007	T	0.23154	-1.0196	10	0.54805	T	0.06	.	7.1446	0.25575	0.1686:0.7437:0.0:0.0877	.	176;214	Q9UHD0;Q5VUT3	IL19_HUMAN;.	L	214;176	ENSP00000343000:S214L;ENSP00000270218:S176L	ENSP00000270218:S176L	S	+	2	0	IL19	205082583	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.527000	0.35975	0.741000	0.32674	0.655000	0.94253	TCA	IL19	-	superfamily_4_helix_cytokine-like_core		0.502	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088567.2	C	NM_153758		207015960	+1	no_errors	ENST00000340758	ensembl	human	known	70_37	missense	SNP	0.001	T
ITIH4	3700	genome.wustl.edu	37	3	52847505	52847505	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:52847505C>T	ENST00000266041.4	-	24	2821	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	ITIH4_ENST00000346281.5_Splice_Site_p.E893K|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Splice_Site_p.E879K|ITIH4_ENST00000485816.1_Splice_Site_p.E914K	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	909					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCCTGCGCTCTCTGAAATGG	0.577																																																	0													59.0	66.0	63.0					3																	52847505		2203	4300	6503	SO:0001630	splice_region_variant	3700			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.2724-1G>A	3.37:g.52847505C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.E909K	ENST00000266041.4	37	c.2725	CCDS2865.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.065|3.065	-0.192477|-0.192477	0.06259|0.06259	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421|ENST00000441637	T;T;T;T|T	0.10860|0.15718	2.83;2.83;2.83;2.83|2.4	4.3|4.3	0.482|0.482	0.16815|0.16815	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);|.	0.960657|.	0.08556|.	N|.	0.928206|.	T|T	0.11324|0.11324	0.0276|0.0276	N|N	0.25890|0.25890	0.77|0.77	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.10296|.	0.002;0.003;0.003;0.0|.	B;B;B;B|.	0.16289|.	0.009;0.015;0.015;0.005|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|6	0.25751|.	T|.	0.34|.	-12.4124|-12.4124	3.3725|3.3725	0.07225|0.07225	0.1914:0.5137:0.0:0.2948|0.1914:0.5137:0.0:0.2948	.|.	879;914;909;893|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	K|K	909;893;914;879;867|697	ENSP00000266041:E909K;ENSP00000340520:E893K;ENSP00000417824:E914K;ENSP00000384425:E879K|ENSP00000395634:R697K	ENSP00000266041:E909K|.	E|R	-|-	1|2	0|0	ITIH4|ITIH4	52822545|52822545	0.928000|0.928000	0.31464|0.31464	0.974000|0.974000	0.42286|0.42286	0.270000|0.270000	0.26580|0.26580	0.104000|0.104000	0.15313|0.15313	0.061000|0.061000	0.16311|0.16311	-0.254000|-0.254000	0.11334|0.11334	GAG|AGA	ITIH4	-	pfam_ITI_HC_C		0.577	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	C	NM_002218	Missense_Mutation	52847505	-1	no_errors	ENST00000266041	ensembl	human	known	70_37	missense	SNP	0.978	T
KAT5	10524	genome.wustl.edu	37	11	65481086	65481086	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:65481086C>T	ENST00000377046.3	+	6	736	c.464C>T	c.(463-465)tCa>tTa	p.S155L	KAT5_ENST00000341318.4_Missense_Mutation_p.S188L|KAT5_ENST00000352980.4_Missense_Mutation_p.S103L|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.S136L|KAT5_ENST00000525204.1_3'UTR	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	155					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAGGTGGTTTCACCAGCAACT	0.532																																																	0													69.0	71.0	70.0					11																	65481086		2201	4297	6498	SO:0001583	missense	10524			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.464C>T	11.37:g.65481086C>T	ENSP00000366245:p.Ser155Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.S188L	ENST00000377046.3	37	c.563	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059407	0.55325	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000528198;ENST00000531880	T;T;T;T;T;T	0.47177	0.92;1.05;0.91;1.05;1.05;0.85	5.04	5.04	0.67666	.	0.579750	0.16893	N	0.195253	T	0.44052	0.1275	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.22983	0.001;0.007;0.078;0.002	B;B;B;B	0.21708	0.003;0.009;0.036;0.003	T	0.28964	-1.0027	10	0.34782	T	0.22	-7.9049	15.8666	0.79069	0.0:1.0:0.0:0.0	.	136;188;103;155	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	L	155;103;188;136;97;149	ENSP00000366245:S155L;ENSP00000344955:S103L;ENSP00000340330:S188L;ENSP00000434765:S136L;ENSP00000436000:S97L;ENSP00000436012:S149L	ENSP00000340330:S188L	S	+	2	0	KAT5	65237662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.210000	0.72176	2.355000	0.79922	0.561000	0.74099	TCA	KAT5	-	NULL		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	C	NM_006388		65481086	+1	no_errors	ENST00000341318	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNH8	131096	genome.wustl.edu	37	3	19190254	19190254	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:19190254C>T	ENST00000328405.2	+	1	309	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	15					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAACACCTTCCTGGACACCAT	0.453																																					NSCLC(124;1625 1765 8018 24930 42026)												0													153.0	140.0	144.0					3																	19190254		2203	4300	6503	SO:0001819	synonymous_variant	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.43C>T	3.37:g.19190254C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2I7|Q59GQ6	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L15	ENST00000328405.2	37	c.43	CCDS2632.1	3																																																																																			KCNH8	-	NULL		0.453	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	C	NM_144633		19190254	+1	no_errors	ENST00000328405	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNT1	57582	genome.wustl.edu	37	9	138660689	138660689	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:138660689C>T	ENST00000263604.3	+	15	1359	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	KCNT1_ENST00000298480.5_Silent_p.I472I|KCNT1_ENST00000371757.2_Silent_p.I472I|KCNT1_ENST00000488444.2_Silent_p.I453I|KCNT1_ENST00000486577.2_Silent_p.I433I|KCNT1_ENST00000490355.2_Silent_p.I453I|KCNT1_ENST00000487664.1_Silent_p.I427I|KCNT1_ENST00000491806.2_Silent_p.I439I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	453					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCAGACCATCCTGCGCGCCT	0.642																																																	0													81.0	69.0	73.0					9																	138660689		2202	4300	6502	SO:0001819	synonymous_variant	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1359C>T	9.37:g.138660689C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.I472	ENST00000263604.3	37	c.1416		9																																																																																			KCNT1	-	NULL		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		C	NM_020822		138660689	+1	no_errors	ENST00000298480	ensembl	human	known	70_37	silent	SNP	1.000	T
KDM6B	23135	genome.wustl.edu	37	17	7750482	7750482	+	Frame_Shift_Del	DEL	C	C	-	rs374365569		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:7750482delC	ENST00000448097.2	+	10	1300	c.969delC	c.(967-969)cacfs	p.H323fs	KDM6B_ENST00000254846.5_Frame_Shift_Del_p.H323fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	323	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACACCGCGCACCCCCCTGGCC	0.682																																																	0													43.0	54.0	50.0					17																	7750482		2193	4277	6470	SO:0001589	frameshift_variant	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.969delC	17.37:g.7750482delC	ENSP00000412513:p.His323fs	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ40|Q96G33	Frame_Shift_Del	DEL	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P325fs	ENST00000448097.2	37	c.969		17																																																																																			KDM6B	-	NULL		0.682	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	C	XM_043272		7750482	+1	no_errors	ENST00000254846	ensembl	human	known	70_37	frame_shift_del	DEL	0.895	-
KIAA1549	57670	genome.wustl.edu	37	7	138588413	138588413	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:138588413G>A	ENST00000422774.1	-	8	3638	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V	KIAA1549_ENST00000440172.1_Missense_Mutation_p.A1197V|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1147V			Q9HCM3	K1549_HUMAN	KIAA1549	1197						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGCAGCTGGGCCAGCTTGCG	0.532			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													57.0	60.0	59.0					7																	138588413		2030	4179	6209	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3590C>T	7.37:g.138588413G>A	ENSP00000416040:p.Ala1197Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.A1197V	ENST00000422774.1	37	c.3590	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621974	0.87460	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.69685	-0.41;-0.39;-0.42	4.61	3.72	0.42706	.	0.054956	0.64402	D	0.000001	T	0.80839	0.4700	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	D	0.83560	0.0106	10	0.87932	D	0	.	13.7992	0.63190	0.0:0.1546:0.8454:0.0	.	1197;1197	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	V	1197;1147;1197	ENSP00000406661:A1197V;ENSP00000242365:A1147V;ENSP00000416040:A1197V	ENSP00000242365:A1147V	A	-	2	0	KIAA1549	138238953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.705000	0.91357	1.140000	0.42260	0.591000	0.81541	GCC	KIAA1549	-	NULL		0.532	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	G			138588413	-1	no_errors	ENST00000422774	ensembl	human	known	70_37	missense	SNP	1.000	A
C2orf74	339804	genome.wustl.edu	37	2	61385089	61385090	+	Intron	DNP	CC	CC	GT			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:61385089_61385090CC>GT	ENST00000426997.1	+	2	89				RP11-493E12.1_ENST00000605902.1_lincRNA	NM_001143960.1	NP_001137432.1	A8MZ97	CB074_HUMAN	chromosome 2 open reading frame 74							integral component of membrane (GO:0016021)				endometrium(1)	1						TGCTGCAGATCCTGTCACCACG	0.54																																																	0																																										SO:0001627	intron_variant	84542					2p15	2012-08-06			ENSG00000237651	ENSG00000237651			34439	protein-coding gene	gene with protein product							Standard	NM_001143959		Approved	LOC339804	uc010ypm.1	A8MZ97		Exception_encountered	2.37:g.61385089_61385090delinsGT		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JP62	Missense_Mutation|Silent	SNP	NULL	p.S26C|p.S26	ENST00000426997.1	37	c.77|c.78		2																																																																																			KIAA1841	-	NULL		0.540	C2orf74-201	KNOWN	basic	protein_coding	KIAA1841	HGNC	protein_coding		C	NM_001143959		61385089|61385090	+1	no_errors	ENST00000398622	ensembl	human	known	70_37	missense|silent	SNP	0.000|0.001	G|T
KIAA2018	205717	genome.wustl.edu	37	3	113374816	113374816	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:113374816C>G	ENST00000478658.1	-	5	5730	c.5713G>C	c.(5713-5715)Gat>Cat	p.D1905H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.D1905H			Q68DE3	K2018_HUMAN	KIAA2018	1905						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CCTTGAATATCTCCTGAGGAA	0.448																																																	0													88.0	85.0	86.0					3																	113374816		1967	4154	6121	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5713G>C	3.37:g.113374816C>G	ENSP00000420721:p.Asp1905His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.D1905H	ENST00000478658.1	37	c.5713	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	c	17.41	3.381547	0.61845	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.25912	1.77;1.77	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.30268	-0.9984	10	0.87932	D	0	-12.824	19.8944	0.96949	0.0:1.0:0.0:0.0	.	1905	Q68DE3	K2018_HUMAN	H	1905	ENSP00000320794:D1905H;ENSP00000420721:D1905H	ENSP00000320794:D1905H	D	-	1	0	KIAA2018	114857506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.136000	0.77285	2.779000	0.95612	0.563000	0.77884	GAT	KIAA2018	-	NULL		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113374816	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF20B	9585	genome.wustl.edu	37	10	91479209	91479209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:91479209G>T	ENST00000371728.3	+	13	1533	c.1468G>T	c.(1468-1470)Gag>Tag	p.E490*	KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E490*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E490*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E490*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	490			E -> D (in dbSNP:rs17484219). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:15489334}.		ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTCCTCTCAAGAGAAATTATT	0.313																																																	0													37.0	41.0	39.0					10																	91479209		2170	4288	6458	SO:0001587	stop_gained	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1468G>T	10.37:g.91479209G>T	ENSP00000360793:p.Glu490*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E490*	ENST00000371728.3	37	c.1468		10	.	.	.	.	.	.	.	.	.	.	G	37	6.291813	0.97449	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.63	5.63	0.86233	.	0.121554	0.36972	N	0.002315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-7.719	12.9476	0.58382	0.074:0.0:0.926:0.0	.	.	.	.	X	490	.	ENSP00000260753:E490X	E	+	1	0	KIF20B	91469189	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.626000	0.54245	2.647000	0.89833	0.460000	0.39030	GAG	KIF20B	-	NULL		0.313	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91479209	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIFC3	3801	genome.wustl.edu	37	16	57819413	57819413	+	Intron	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:57819413C>T	ENST00000379655.4	-	3	573				KIFC3_ENST00000445690.2_Intron|KIFC3_ENST00000541240.1_Intron|KIFC3_ENST00000465878.2_Intron|KIFC3_ENST00000421376.2_Intron|KIFC3_ENST00000539578.1_Missense_Mutation_p.S35N|KIFC3_ENST00000566975.1_Intron	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGCTGGTCACTGTCGCGGAG	0.637																																																	0																																										SO:0001627	intron_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.315+9497G>A	16.37:g.57819413C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S35N	ENST00000379655.4	37	c.104	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745133	0.30955	.	.	ENSG00000140859	ENST00000539578	T	0.73681	-0.77	4.68	3.68	0.42216	.	.	.	.	.	T	0.56804	0.2010	.	.	.	0.20638	N	0.999876	B	0.32160	0.358	B	0.26770	0.073	T	0.37056	-0.9722	8	0.19147	T	0.46	.	10.7273	0.46077	0.0:0.8059:0.1941:0.0	.	35	F5H4I9	.	N	35	ENSP00000444884:S35N	ENSP00000444884:S35N	S	-	2	0	KIFC3	56376914	0.996000	0.38824	1.000000	0.80357	0.851000	0.48451	0.549000	0.23329	1.040000	0.40099	0.591000	0.81541	AGT	KIFC3	-	NULL		0.637	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	C	NM_005550		57819413	-1	no_errors	ENST00000539578	ensembl	human	known	70_37	missense	SNP	1.000	T
LEPR	3953	genome.wustl.edu	37	1	66098839	66098839	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:66098839C>T	ENST00000371060.3	+	20	2863	c.2678C>T	c.(2677-2679)aCg>aTg	p.T893M	LEPR_ENST00000349533.6_Intron|LEPR_ENST00000406510.3_Intron	NM_001003679.3|NM_001198689.1	NP_001003679.1|NP_001185618.1	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.T893M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAACAGAGAACGGACATTCTT	0.299																																																	1	Substitution - Missense(1)	breast(1)											46.0	46.0	46.0					1																	66098839		2203	4298	6501	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000371060.3:c.2678C>T	1.37:g.66098839C>T	ENSP00000360099:p.Thr893Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T893M	ENST00000371060.3	37	c.2678	CCDS30740.1	1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.033004	0.35893	.	.	ENSG00000116678	ENST00000371060	T	0.54866	0.55	5.9	-3.63	0.04529	.	.	.	.	.	T	0.19765	0.0475	.	.	.	0.80722	D	1	B	0.15719	0.014	B	0.15870	0.014	T	0.18745	-1.0327	8	0.46703	T	0.11	.	7.9652	0.30094	0.0:0.2074:0.1345:0.6581	.	893	P48357-2	.	M	893	ENSP00000360099:T893M	ENSP00000360099:T893M	T	+	2	0	LEPR	65871427	0.878000	0.30173	0.893000	0.35052	0.996000	0.88848	-0.270000	0.08584	-0.510000	0.06523	-0.145000	0.13849	ACG	LEPR	-	NULL		0.299	LEPR-002	KNOWN	basic|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025276.1	C	NM_002303		66098839	+1	no_errors	ENST00000371060	ensembl	human	known	70_37	missense	SNP	0.834	T
TOX	9760	genome.wustl.edu	37	8	60032383	60032384	+	5'Flank	INS	-	-	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:60032383_60032384insC	ENST00000361421.1	-	0	0				RP11-25K19.1_ENST00000517898.1_RNA|RP11-25K19.1_ENST00000518993.1_RNA|RP11-25K19.1_ENST00000523683.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box							nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				cccgcccccggccctccccggc	0.777																																					Pancreas(161;610 1969 17913 21374 22725)												0																																										SO:0001631	upstream_gene_variant	100505501				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331		8.37:g.60032386_60032386dupC	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AV5	RNA	INS	-	NULL	ENST00000361421.1	37	NULL	CCDS34897.1	8																																																																																			RP11-25K19.1	-	-		0.777	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100505501	Clone_based_vega_gene	protein_coding	OTTHUMT00000378307.1	-	NM_014729		60032384	+1	no_errors	ENST00000523683	ensembl	human	known	70_37	rna	INS	0.051:0.109	C
LRP1B	53353	genome.wustl.edu	37	2	141806683	141806683	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:141806683T>C	ENST00000389484.3	-	11	2632	c.1661A>G	c.(1660-1662)aAt>aGt	p.N554S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	554					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTACCAGATTTTCTATGGG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													191.0	186.0	188.0					2																	141806683		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1661A>G	2.37:g.141806683T>C	ENSP00000374135:p.Asn554Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.N554S	ENST00000389484.3	37	c.1661	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129400	0.37630	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91011	-2.77	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.065397	0.64402	U	0.000012	D	0.87533	0.6201	L	0.58428	1.81	0.39863	D	0.973401	P	0.38195	0.622	B	0.32762	0.152	D	0.87048	0.2145	10	0.29301	T	0.29	.	15.592	0.76537	0.0:0.0:0.0:1.0	.	554	Q9NZR2	LRP1B_HUMAN	S	554;492	ENSP00000374135:N554S	ENSP00000374135:N554S	N	-	2	0	LRP1B	141523153	1.000000	0.71417	1.000000	0.80357	0.126000	0.20510	6.138000	0.71717	2.074000	0.62210	0.460000	0.39030	AAT	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	T	NM_018557		141806683	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC10	376132	genome.wustl.edu	37	12	70004462	70004462	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:70004462C>T	ENST00000361484.3	-	1	480	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	53					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGACCAGCTCCCTGAAGGAG	0.582																																																	0													60.0	52.0	55.0					12																	70004462		2203	4300	6503	SO:0001583	missense	376132			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.157G>A	12.37:g.70004462C>T	ENSP00000355166:p.Glu53Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZVY4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E53K	ENST00000361484.3	37	c.157	CCDS31856.1	12	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188041	0.38609	.	.	ENSG00000198812	ENST00000361484	T	0.22539	1.95	5.62	4.73	0.59995	.	0.090810	0.85682	D	0.000000	T	0.14570	0.0352	N	0.04705	-0.18	0.46396	D	0.999027	B	0.27910	0.193	B	0.37015	0.239	T	0.15954	-1.0419	10	0.19147	T	0.46	.	17.1073	0.86667	0.0:0.8735:0.1265:0.0	.	53	Q5BKY1	LRC10_HUMAN	K	53	ENSP00000355166:E53K	ENSP00000355166:E53K	E	-	1	0	LRRC10	68290729	1.000000	0.71417	0.783000	0.31826	0.401000	0.30781	4.855000	0.62925	1.506000	0.48736	0.555000	0.69702	GAG	LRRC10	-	smart_Leu-rich_rpt_typical-subtyp		0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10	HGNC	protein_coding	OTTHUMT00000403834.1	C	NM_201550		70004462	-1	no_errors	ENST00000361484	ensembl	human	known	70_37	missense	SNP	0.997	T
RAD54L	8438	genome.wustl.edu	37	1	46726876	46726877	+	Intron	INS	-	-	T	rs559518408|rs374305648|rs61239976	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:46726876_46726877insT	ENST00000371975.4	+	8	1440				RAD54L_ENST00000473251.1_Intron|RAD54L_ENST00000442598.1_Intron	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)						chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGTTTTTTTTGTTTTTTTTTTT	0.366								Direct reversal of damage;Homologous recombination																																									0																																										SO:0001627	intron_variant	10489			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.767-56->T	1.37:g.46726887_46726887dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TE31|Q6IUY3	RNA	INS	-	NULL	ENST00000371975.4	37	NULL	CCDS532.1	1																																																																																			LRRC41	-	-		0.366	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021272.1	-	NM_003579		46726877	-1	no_errors	ENST00000496156	ensembl	human	known	70_37	rna	INS	0.000:0.001	T
MAU2	23383	genome.wustl.edu	37	19	19449665	19449665	+	Silent	SNP	G	G	A	rs199781947		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:19449665G>A	ENST00000392313.6	+	5	647	c.468G>A	c.(466-468)acG>acA	p.T156T	MAU2_ENST00000586189.3_Intron|MAU2_ENST00000262815.8_Silent_p.T156T	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	156					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.T156T(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AACTGCACACGCTTGAGAAGG	0.557																																																	1	Substitution - coding silent(1)	lung(1)											89.0	100.0	96.0					19																	19449665		2005	4162	6167	SO:0001819	synonymous_variant	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.468G>A	19.37:g.19449665G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.T156	ENST00000392313.6	37	c.468	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor		0.557	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	G	NM_015329		19449665	+1	no_errors	ENST00000262815	ensembl	human	known	70_37	silent	SNP	0.226	A
MBTD1	54799	genome.wustl.edu	37	17	49302481	49302481	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:49302481G>A	ENST00000586178.1	-	3	385	c.42C>T	c.(40-42)agC>agT	p.S14S	MBTD1_ENST00000415868.1_Silent_p.S14S|MBTD1_ENST00000593259.1_5'Flank|MBTD1_ENST00000376381.2_Silent_p.S14S	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	14					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AGCTGGAGCTGCTGCTTGTGT	0.438																																																	0													108.0	99.0	102.0					17																	49302481		692	1591	2283	SO:0001819	synonymous_variant	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.42C>T	17.37:g.49302481G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZVU7|Q9NXU1	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.S14	ENST00000586178.1	37	c.42	CCDS11581.2	17																																																																																			MBTD1	-	NULL		0.438	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	G			49302481	-1	no_errors	ENST00000415868	ensembl	human	known	70_37	silent	SNP	1.000	A
MCTP1	79772	genome.wustl.edu	37	5	94046549	94046549	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:94046549G>A	ENST00000515393.1	-	21	2803	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Missense_Mutation_p.P628L|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Missense_Mutation_p.P451L|MCTP1_ENST00000312216.8_Missense_Mutation_p.P714L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	935					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTATCTCAGCGGAATGCAGTA	0.458																																																	0													108.0	91.0	97.0					5																	94046549		2203	4300	6503	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2804C>T	5.37:g.94046549G>A	ENSP00000424126:p.Pro935Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.P935L	ENST00000515393.1	37	c.2804	CCDS34203.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903131	0.92035	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	D;D;T;D;D	0.90504	-2.6;-2.57;-1.41;-2.68;-2.39	5.79	5.79	0.91817	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95964	0.8964	10	0.72032	D	0.01	-9.4155	20.0411	0.97590	0.0:0.0:1.0:0.0	.	935;628;714	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	L	935;628;451;714;655	ENSP00000424126:P935L;ENSP00000391639:P628L;ENSP00000426417:P451L;ENSP00000308957:P714L;ENSP00000423410:P655L	ENSP00000308957:P714L	P	-	2	0	MCTP1	94072305	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.739000	0.93911	0.655000	0.94253	CCG	MCTP1	-	pfam_PRibTrfase_C		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	G	NM_024717		94046549	-1	no_errors	ENST00000515393	ensembl	human	known	70_37	missense	SNP	1.000	A
MED13L	23389	genome.wustl.edu	37	12	116457130	116457130	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:116457130C>T	ENST00000281928.3	-	7	1114	c.908G>A	c.(907-909)gGc>gAc	p.G303D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	303						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCAATGTGGCCTCCAGCACT	0.517																																																	0													134.0	117.0	123.0					12																	116457130		2203	4300	6503	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.908G>A	12.37:g.116457130C>T	ENSP00000281928:p.Gly303Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G303D	ENST00000281928.3	37	c.908	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014972	0.35511	.	.	ENSG00000123066	ENST00000281928	T	0.76839	-1.05	5.24	5.24	0.73138	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.294045	0.38272	N	0.001758	T	0.69378	0.3104	N	0.19112	0.55	0.33124	D	0.542237	D	0.53462	0.96	P	0.51055	0.657	T	0.73720	-0.3894	10	0.33141	T	0.24	.	8.9588	0.35834	0.0:0.7721:0.1504:0.0775	.	303	Q71F56	MD13L_HUMAN	D	303	ENSP00000281928:G303D	ENSP00000281928:G303D	G	-	2	0	MED13L	114941513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.770000	0.38532	2.723000	0.93209	0.585000	0.79938	GGC	MED13L	-	pfam_Mediator_Med13_N_met/fun		0.517	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	C			116457130	-1	no_errors	ENST00000281928	ensembl	human	known	70_37	missense	SNP	1.000	T
MGAT3	4248	genome.wustl.edu	37	22	39883520	39883520	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:39883520C>T	ENST00000341184.6	+	2	383	c.168C>T	c.(166-168)gtC>gtT	p.V56V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	56	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ATGCCCCGGTCACGCCCCAGG	0.652																																																	0													101.0	109.0	106.0					22																	39883520		2203	4300	6503	SO:0001819	synonymous_variant	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.168C>T	22.37:g.39883520C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	pfam_Glyco_trans_17	p.V56	ENST00000341184.6	37	c.168	CCDS13994.2	22																																																																																			MGAT3	-	NULL		0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	C	NM_002409		39883520	+1	no_errors	ENST00000341184	ensembl	human	known	70_37	silent	SNP	0.913	T
MGAT3	4248	genome.wustl.edu	37	22	39883979	39883979	+	Missense_Mutation	SNP	C	C	G	rs369542837		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:39883979C>G	ENST00000341184.6	+	2	842	c.627C>G	c.(625-627)atC>atG	p.I209M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	209					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.I209M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCGCGTCATCAACGCCATCA	0.657																																																	1	Substitution - Missense(1)	lung(1)											40.0	32.0	35.0					22																	39883979		2203	4300	6503	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.627C>G	22.37:g.39883979C>G	ENSP00000345270:p.Ile209Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.I209M	ENST00000341184.6	37	c.627	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055054	0.55325	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.72894	2.215	0.38545	D	0.949322	D	0.89917	1.0	D	0.81914	0.995	T	0.76498	-0.2937	9	0.72032	D	0.01	.	10.2296	0.43247	0.0:0.8535:0.0:0.1465	.	209	Q09327	MGAT3_HUMAN	M	209	.	ENSP00000345270:I209M	I	+	3	3	MGAT3	38213925	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.833000	0.39161	2.697000	0.92050	0.655000	0.94253	ATC	MGAT3	-	pfam_Glyco_trans_17		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	C	NM_002409		39883979	+1	no_errors	ENST00000341184	ensembl	human	known	70_37	missense	SNP	1.000	G
MOSPD1	56180	genome.wustl.edu	37	X	134033227	134033228	+	Intron	INS	-	-	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:134033227_134033228insG	ENST00000370783.3	-	3	341				MOSPD1_ENST00000370777.1_Intron|MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCATTAGTGTTTTTTTTTTTT	0.351																																																	0																																										SO:0001627	intron_variant	56180			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.155-32->C	X.37:g.134033227_134033228insG		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	INS	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-		0.351	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1	-	NM_019556		134033228	-1	no_errors	ENST00000462060	ensembl	human	known	70_37	rna	INS	0.001:0.000	G
MTUS1	57509	genome.wustl.edu	37	8	17612715	17612715	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:17612715G>C	ENST00000262102.6	-	2	826	c.602C>G	c.(601-603)tCt>tGt	p.S201C	MTUS1_ENST00000381869.3_Missense_Mutation_p.S201C|MTUS1_ENST00000519263.1_Missense_Mutation_p.S201C|MTUS1_ENST00000381862.3_Missense_Mutation_p.S201C	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	201					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATAAAGAAGATGTACTTCC	0.428																																																	0													148.0	132.0	137.0					8																	17612715		1953	4137	6090	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.602C>G	8.37:g.17612715G>C	ENSP00000262102:p.Ser201Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin/RNR-like	p.S201C	ENST00000262102.6	37	c.602	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159400	0.38119	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.20200	3.11;3.09;3.11;2.09	4.05	4.05	0.47172	.	1.796670	0.03495	N	0.217189	T	0.34164	0.0888	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.999;0.995;0.995	D;P;P	0.66979	0.948;0.847;0.847	T	0.36089	-0.9762	9	.	.	.	-2.3921	9.8316	0.40946	0.0986:0.0:0.9014:0.0	.	201;201;201	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	C	201	ENSP00000371293:S201C;ENSP00000262102:S201C;ENSP00000430167:S201C;ENSP00000371286:S201C	.	S	-	2	0	MTUS1	17656995	0.003000	0.15002	0.014000	0.15608	0.327000	0.28475	0.916000	0.28651	2.542000	0.85734	0.563000	0.77884	TCT	MTUS1	-	NULL		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	G	XM_372031		17612715	-1	no_errors	ENST00000262102	ensembl	human	known	70_37	missense	SNP	0.004	C
MXRA8	54587	genome.wustl.edu	37	1	1289241	1289241	+	Missense_Mutation	SNP	G	G	C	rs367562728		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:1289241G>C	ENST00000309212.6	-	9	1320	c.1290C>G	c.(1288-1290)atC>atG	p.I430M	MXRA8_ENST00000342753.4_Missense_Mutation_p.I329M|MXRA8_ENST00000445648.2_Missense_Mutation_p.I436M|MXRA8_ENST00000477278.2_Missense_Mutation_p.I421M	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	430					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCTAGGTCGATGTACTTGG	0.627																																																	0													28.0	28.0	28.0					1																	1289241		2195	4294	6489	SO:0001583	missense	54587			BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.1290C>G	1.37:g.1289241G>C	ENSP00000307887:p.Ile430Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I436M	ENST00000309212.6	37	c.1308	CCDS24.1	1	.	.	.	.	.	.	.	.	.	.	.	10.58	1.389040	0.25118	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.21031	2.04;2.08;2.03	4.03	-8.06	0.01102	.	0.289221	0.30791	U	0.008861	T	0.23210	0.0561	M	0.64997	1.995	0.31166	N	0.703762	P;D;P;P	0.59767	0.621;0.986;0.57;0.621	B;P;P;B	0.52672	0.401;0.706;0.605;0.401	T	0.34153	-0.9840	10	0.87932	D	0	-12.7697	7.8782	0.29605	0.3855:0.1871:0.4275:0.0	.	421;329;436;430	B3KTR6;B4DE34;Q9BRK3-2;Q9BRK3	.;.;.;MXRA8_HUMAN	M	430;421;329;436	ENSP00000307887:I430M;ENSP00000344998:I329M;ENSP00000399229:I436M	ENSP00000307887:I430M	I	-	3	3	MXRA8	1279104	0.000000	0.05858	0.005000	0.12908	0.051000	0.14879	-1.924000	0.01565	-2.286000	0.00670	-1.036000	0.02392	ATC	MXRA8	-	NULL		0.627	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA8	HGNC	protein_coding	OTTHUMT00000008282.2	G	NM_032348		1289241	-1	no_errors	ENST00000445648	ensembl	human	known	70_37	missense	SNP	0.271	C
NADSYN1	55191	genome.wustl.edu	37	11	71184348	71184348	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:71184348G>T	ENST00000319023.2	+	7	672	c.484G>T	c.(484-486)Gtg>Ttg	p.V162L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	162	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CGGAGATGCGGTGCTGGTGAC	0.597																																					Ovarian(79;763 1781 6490 50276)												0													139.0	121.0	127.0					11																	71184348		2200	4294	6494	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.484G>T	11.37:g.71184348G>T	ENSP00000326424:p.Val162Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.V162L	ENST00000319023.2	37	c.484	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426217	0.43020	.	.	ENSG00000172890	ENST00000319023	D	0.88277	-2.36	4.99	4.99	0.66335	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000001	D	0.87505	0.6194	L	0.45137	1.4	0.80722	D	1	B	0.33857	0.429	B	0.44044	0.439	T	0.83303	-0.0027	10	0.11182	T	0.66	-32.7639	15.7837	0.78286	0.0:0.0:1.0:0.0	.	162	Q6IA69	NADE_HUMAN	L	162	ENSP00000326424:V162L	ENSP00000326424:V162L	V	+	1	0	NADSYN1	70861996	1.000000	0.71417	0.859000	0.33776	0.016000	0.09150	7.443000	0.80521	2.309000	0.77851	0.561000	0.74099	GTG	NADSYN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase		0.597	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	G	NM_018161		71184348	+1	no_errors	ENST00000319023	ensembl	human	known	70_37	missense	SNP	0.999	T
NKD2	85409	genome.wustl.edu	37	5	1037712	1037712	+	Intron	SNP	A	A	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:1037712A>C	ENST00000296849.5	+	10	1016				NKD2_ENST00000274150.4_Silent_p.R289R|NKD2_ENST00000382730.2_Intron|NKD2_ENST00000537972.1_Silent_p.R289R	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)						exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CGGCCTTTGCAGGGAGCTGTG	0.637																																																	0																																										SO:0001627	intron_variant	85409			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.788-208A>C	5.37:g.1037712A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96EK8|Q9BSN0	Silent	SNP	pfscan_EF_HAND_2	p.R289	ENST00000296849.5	37	c.865	CCDS3859.1	5																																																																																			NKD2	-	NULL		0.637	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	A	NM_033120		1037712	+1	no_errors	ENST00000537972	ensembl	human	known	70_37	silent	SNP	0.006	C
NR1D1	9572	genome.wustl.edu	37	17	38252730	38252730	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:38252730G>C	ENST00000246672.3	-	4	1200	c.570C>G	c.(568-570)ttC>ttG	p.F190L		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	190	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GACACTTCTTGAAGCGACATT	0.522																																																	0													119.0	105.0	109.0					17																	38252730		2203	4300	6503	SO:0001583	missense	9572			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.570C>G	17.37:g.38252730G>C	ENSP00000246672:p.Phe190Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.F190L	ENST00000246672.3	37	c.570	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422794	0.83559	.	.	ENSG00000126368	ENST00000246672	D	0.96522	-4.04	4.41	4.41	0.53225	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.134465	0.49305	D	0.000149	D	0.91872	0.7427	N	0.20881	0.62	0.80722	D	1	P	0.43938	0.822	B	0.41174	0.349	D	0.90579	0.4528	10	0.12103	T	0.63	.	16.3353	0.83059	0.0:0.0:1.0:0.0	.	190	P20393	NR1D1_HUMAN	L	190	ENSP00000246672:F190L	ENSP00000246672:F190L	F	-	3	2	NR1D1	35506256	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.406000	0.34646	2.451000	0.82905	0.306000	0.20318	TTC	NR1D1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.522	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	G			38252730	-1	no_errors	ENST00000246672	ensembl	human	known	70_37	missense	SNP	1.000	C
NTRK3	4916	genome.wustl.edu	37	15	88680772	88680772	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:88680772A>G	ENST00000360948.2	-	6	646	c.485T>C	c.(484-486)tTc>tCc	p.F162S	NTRK3_ENST00000355254.2_Missense_Mutation_p.F162S|NTRK3_ENST00000558676.1_Missense_Mutation_p.F162S|NTRK3_ENST00000557856.1_Missense_Mutation_p.F162S|NTRK3_ENST00000317501.3_Missense_Mutation_p.F162S|NTRK3_ENST00000542733.2_Missense_Mutation_p.F64S|NTRK3_ENST00000394480.2_Missense_Mutation_p.F162S|NTRK3_ENST00000540489.2_Missense_Mutation_p.F162S|NTRK3_ENST00000357724.2_Missense_Mutation_p.F162S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	162	LRRCT.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGCAGTTGAAAAAGTTCTG	0.587			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													69.0	59.0	63.0					15																	88680772		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.485T>C	15.37:g.88680772A>G	ENSP00000354207:p.Phe162Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F162S	ENST00000360948.2	37	c.485	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	31	5.082830	0.94050	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	D;D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.71	5.71	0.89125	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.997;0.999;0.999;0.997	D;D;D;D;D;D	0.83275	0.996;0.986;0.942;0.996;0.992;0.942	D	0.95033	0.8171	10	0.87932	D	0	.	15.1853	0.72996	1.0:0.0:0.0:0.0	.	64;162;162;162;162;162	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	162;162;162;162;64;162;162	ENSP00000377990:F162S;ENSP00000354207:F162S;ENSP00000350356:F162S;ENSP00000347397:F162S;ENSP00000437773:F64S;ENSP00000444673:F162S;ENSP00000318328:F162S	ENSP00000318328:F162S	F	-	2	0	NTRK3	86481776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.762000	0.91711	2.171000	0.68590	0.528000	0.53228	TTC	NTRK3	-	smart_Cys-rich_flank_reg_C		0.587	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		A			88680772	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	missense	SNP	1.000	G
NUP205	23165	genome.wustl.edu	37	7	135327944	135327944	+	Silent	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:135327944C>A	ENST00000285968.6	+	39	5423	c.5397C>A	c.(5395-5397)acC>acA	p.T1799T		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1799					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 transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTAGATACCCAAGCTCCAG	0.393																																																	0													126.0	115.0	119.0					7																	135327944		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5397C>A	7.37:g.135327944C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.T1799	ENST00000285968.6	37	c.5397	CCDS34759.1	7																																																																																			NUP205	-	NULL		0.393	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	C			135327944	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	1.000	A
OR6C76	390326	genome.wustl.edu	37	12	55820622	55820622	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:55820622G>C	ENST00000328314.3	+	1	585	c.585G>C	c.(583-585)atG>atC	p.M195I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TAGAGCTCATGAGCTTTATTT	0.398																																																	0													108.0	99.0	102.0					12																	55820622		2203	4299	6502	SO:0001583	missense	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.585G>C	12.37:g.55820622G>C	ENSP00000328402:p.Met195Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M195I	ENST00000328314.3	37	c.585	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	g	4.987	0.183242	0.09495	.	.	ENSG00000185821	ENST00000328314	T	0.36157	1.27	4.26	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.107337	0.40908	U	0.000987	T	0.18341	0.0440	N	0.16656	0.425	0.09310	N	1	B	0.15473	0.013	B	0.23275	0.045	T	0.09185	-1.0686	10	0.21014	T	0.42	.	4.824	0.13407	0.111:0.0:0.677:0.212	.	195	A6NM76	O6C76_HUMAN	I	195	ENSP00000328402:M195I	ENSP00000328402:M195I	M	+	3	0	OR6C76	54106889	0.000000	0.05858	0.185000	0.23176	0.987000	0.75469	-0.882000	0.04174	2.357000	0.79964	0.531000	0.56144	ATG	OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	G	NM_001005183		55820622	+1	no_errors	ENST00000328314	ensembl	human	known	70_37	missense	SNP	0.000	C
OR7E47P	26628	genome.wustl.edu	37	12	52501261	52501261	+	RNA	SNP	G	G	T	rs577399738		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:52501261G>T	ENST00000546390.1	+	0	660									olfactory receptor, family 7, subfamily E, member 47 pseudogene																		ATCCGGCCATGAGCCCTGACT	0.582																																																	0																																												219445			X87825		12q13.13	2013-01-23			ENSG00000257542	ENSG00000257542		"""GPCR / Class A : Olfactory receptors"""	8421	pseudogene	pseudogene						8647456	Standard	NR_120439		Approved	OR7E141			OTTHUMG00000169615		12.37:g.52501261G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000546390.1	37	NULL		12																																																																																			OR7E5P	-	-		0.582	OR7E47P-002	KNOWN	basic	processed_transcript	OR7E5P	HGNC	pseudogene	OTTHUMT00000405071.1	G	NG_004128		52501261	+1	no_errors	ENST00000546390	ensembl	human	known	70_37	rna	SNP	0.000	T
OR6C76	390326	genome.wustl.edu	37	12	55820808	55820808	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:55820808G>A	ENST00000328314.3	+	1	771	c.771G>A	c.(769-771)gtG>gtA	p.V257V		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCATGTATGTGAAAACATCAG	0.403																																																	0													107.0	96.0	100.0					12																	55820808		2203	4300	6503	SO:0001819	synonymous_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.771G>A	12.37:g.55820808G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V257	ENST00000328314.3	37	c.771	CCDS31823.1	12																																																																																			OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	G	NM_001005183		55820808	+1	no_errors	ENST00000328314	ensembl	human	known	70_37	silent	SNP	0.001	A
PAX1	5075	genome.wustl.edu	37	20	21687070	21687070	+	Intron	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:21687070C>G	ENST00000398485.2	+	2	340				PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.S70C	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1						bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCTGGCGCATCCGCAGAGCAG	0.667																																																	0													32.0	37.0	35.0					20																	21687070		2191	4280	6471	SO:0001627	intron_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.287-6C>G	20.37:g.21687070C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.S70C	ENST00000398485.2	37	c.209	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	C	9.549	1.115473	0.20795	.	.	ENSG00000125813	ENST00000444366	D	0.98345	-4.88	3.62	1.61	0.23674	.	.	.	.	.	D	0.97362	0.9137	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.54460	0.753	D	0.92603	0.6093	8	0.54805	T	0.06	.	4.3731	0.11258	0.3986:0.4908:0.0:0.1106	.	70	P15863-2	.	C	70	ENSP00000410355:S70C	ENSP00000410355:S70C	S	+	2	0	PAX1	21635070	0.969000	0.33509	0.952000	0.39060	0.794000	0.44872	1.696000	0.37773	0.484000	0.27630	0.561000	0.74099	TCC	PAX1	-	NULL		0.667	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	C			21687070	+1	no_errors	ENST00000444366	ensembl	human	novel	70_37	missense	SNP	0.202	G
PBLD	64081	genome.wustl.edu	37	10	70055968	70055968	+	Intron	DEL	A	A	-			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:70055968delA	ENST00000358769.2	-	4	486				PBLD_ENST00000309049.4_Intron|PBLD_ENST00000336578.1_Intron|PBLD_ENST00000495025.2_Intron|PBLD_ENST00000432941.1_Intron	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTGAGAACTTAAAAAAAAAAA	0.378																																																	0																																										SO:0001627	intron_variant	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.283+54T>-	10.37:g.70055968delA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZJ3|C9JIM0|Q9HCC2	RNA	DEL	-	NULL	ENST00000358769.2	37	NULL	CCDS7277.2	10																																																																																			PBLD	-	-		0.378	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	A	NM_022129		70055968	-1	no_errors	ENST00000478192	ensembl	human	known	70_37	rna	DEL	0.000	-
PBX3	5090	genome.wustl.edu	37	9	128729186	128729186	+	3'UTR	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:128729186G>T	ENST00000373489.5	+	0	2305				PBX3_ENST00000342287.5_3'UTR|PBX3_ENST00000373487.4_3'UTR	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3						adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TTAACTCTTTGTTTCCCTTCA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.*984G>T	9.37:g.128729186G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	RNA	SNP	-	NULL	ENST00000373489.5	37	NULL	CCDS6865.1	9																																																																																			PBX3	-	-		0.343	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	G			128729186	+1	no_errors	ENST00000492314	ensembl	human	known	70_37	rna	SNP	1.000	T
PCSK7	9159	genome.wustl.edu	37	11	117078531	117078532	+	Intron	INS	-	-	TTCA	rs202079323	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:117078531_117078532insTTCA	ENST00000320934.3	-	14	2417				PCSK7_ENST00000540028.1_Intron|PCSK7_ENST00000529458.1_Intron	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GCAATGCCCATTTCACGGATGG	0.48			T	IGH@	MLCLS									54	0.0107827	0.0295	0.0086	5008	,	,		26438	0.0		0.007	False		,,,				2504	0.002							Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0																																										SO:0001627	intron_variant	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1786+153->TGAA	11.37:g.117078532_117078535dupTTCA		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	RNA	INS	-	NULL	ENST00000320934.3	37	NULL	CCDS8382.1	11																																																																																			PCSK7	-	-		0.480	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	-	NM_004716		117078532	-1	no_errors	ENST00000533135	ensembl	human	known	70_37	rna	INS	0.000:0.000	TTCA
PDXK	8566	genome.wustl.edu	37	21	45165934	45165934	+	Intron	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr21:45165934G>A	ENST00000291565.4	+	5	514				PDXK_ENST00000467908.1_Intron|PDXK_ENST00000468090.1_Intron	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	AGCCTTTGCTGATAAGATGCC	0.483																																																	0													257.0	212.0	227.0					21																	45165934		2203	4300	6503	SO:0001627	intron_variant	8566			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.332-26G>A	21.37:g.45165934G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2Y0|Q9BS02	RNA	SNP	-	NULL	ENST00000291565.4	37	NULL	CCDS13699.1	21																																																																																			PDXK	-	-		0.483	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXK	HGNC	protein_coding	OTTHUMT00000195636.1	G	NM_003681		45165934	+1	no_errors	ENST00000468392	ensembl	human	known	70_37	rna	SNP	0.001	A
PIGQ	9091	genome.wustl.edu	37	16	628881	628881	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:628881C>G	ENST00000026218.5	+	6	1254	c.1166C>G	c.(1165-1167)tCg>tGg	p.S389W	PIGQ_ENST00000321878.5_Missense_Mutation_p.S389W|PIGQ_ENST00000409527.2_Missense_Mutation_p.S389W	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	389	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCCCTCCTCTCGGACATTATC	0.647																																																	0													155.0	134.0	141.0					16																	628881		2201	4300	6501	SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1166C>G	16.37:g.628881C>G	ENSP00000026218:p.Ser389Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.S389W	ENST00000026218.5	37	c.1166	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850658	0.71719	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218	T;T;T	0.50548	0.74;0.74;2.05	5.49	5.49	0.81192	.	0.186027	0.49305	D	0.000145	T	0.69378	0.3104	M	0.71581	2.175	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	0.71227	-0.4655	10	0.62326	D	0.03	-16.4684	18.3555	0.90356	0.0:1.0:0.0:0.0	.	403;389;389	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	W	389	ENSP00000386760:S389W;ENSP00000326674:S389W;ENSP00000026218:S389W	ENSP00000026218:S389W	S	+	2	0	PIGQ	568882	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	7.769000	0.85360	2.591000	0.87537	0.591000	0.81541	TCG	PIGQ	-	pfam_GlcNAc_Gpi1		0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	C	NM_004204		628881	+1	no_errors	ENST00000026218	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEKHA1	59338	genome.wustl.edu	37	10	124189979	124189979	+	3'UTR	SNP	A	A	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:124189979A>G	ENST00000368990.3	+	0	1871				PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000433307.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1						androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATTATAACCATTTTTGATGC	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.*525A>G	10.37:g.124189979A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ55|D3DRE2|Q9BVK0	RNA	SNP	-	NULL	ENST00000368990.3	37	NULL	CCDS7629.1	10																																																																																			PLEKHA1	-	-		0.358	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	A	NM_001001974		124189979	+1	no_errors	ENST00000479786	ensembl	human	known	70_37	rna	SNP	0.015	G
PNO1	56902	genome.wustl.edu	37	2	68388847	68388847	+	Silent	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:68388847G>C	ENST00000263657.2	+	3	481	c.390G>C	c.(388-390)ctG>ctC	p.L130L	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	130						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTAGTGCTCTGACAAAAGCAG	0.338																																					NSCLC(83;642 1410 13044 32832 40058)												0													104.0	109.0	107.0					2																	68388847		2203	4300	6503	SO:0001819	synonymous_variant	56902			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.390G>C	2.37:g.68388847G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q0|Q53G13|Q8WVB8	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.L130	ENST00000263657.2	37	c.390	CCDS1885.1	2																																																																																			PNO1	-	NULL		0.338	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNO1	HGNC	protein_coding	OTTHUMT00000251756.1	G	NM_020143		68388847	+1	no_errors	ENST00000263657	ensembl	human	known	70_37	silent	SNP	1.000	C
PRKCG	5582	genome.wustl.edu	37	19	54406378	54406378	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:54406378G>A	ENST00000263431.3	+	15	1909	c.1627G>A	c.(1627-1629)Gtt>Att	p.V543I	PRKCG_ENST00000542049.1_Missense_Mutation_p.V430I|PRKCG_ENST00000540413.1_Missense_Mutation_p.V543I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTCCTTTGGAGTTCTGCTGTA	0.537																																																	0													335.0	301.0	312.0					19																	54406378		2203	4300	6503	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1627G>A	19.37:g.54406378G>A	ENSP00000263431:p.Val543Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.V543I	ENST00000263431.3	37	c.1627	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860108	0.91433	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.27890	1.64;1.64;1.64	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41373	0.1156	N	0.17594	0.5	0.58432	D	0.999999	D;P;P	0.63046	0.992;0.791;0.722	D;B;P	0.77004	0.989;0.313;0.655	T	0.41484	-0.9506	9	0.72032	D	0.01	.	17.1095	0.86672	0.0:0.0:1.0:0.0	.	430;543;543	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	I	543;543;430	ENSP00000443493:V543I;ENSP00000263431:V543I;ENSP00000438090:V430I	ENSP00000263431:V543I	V	+	1	0	PRKCG	59098190	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.566000	0.98157	2.719000	0.93026	0.655000	0.94253	GTT	PRKCG	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.537	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	G	NM_002739		54406378	+1	no_errors	ENST00000540413	ensembl	human	known	70_37	missense	SNP	1.000	A
PRRX1	5396	genome.wustl.edu	37	1	170688882	170688882	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:170688882C>T	ENST00000239461.6	+	2	570	c.257C>T	c.(256-258)tCa>tTa	p.S86L	PRRX1_ENST00000367760.3_Missense_Mutation_p.S86L|PRRX1_ENST00000497230.2_Missense_Mutation_p.S86L	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	86					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGCTGAACTCAGAAGAAAAA	0.423																																																	0													49.0	48.0	48.0					1																	170688882		2203	4300	6503	SO:0001583	missense	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.257C>T	1.37:g.170688882C>T	ENSP00000239461:p.Ser86Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.S86L	ENST00000239461.6	37	c.257	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144495	0.57044	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.92299	-2.8;-2.98;-3.01;-2.96	5.11	5.11	0.69529	Homeodomain-related (1);Homeodomain-like (1);	0.160991	0.45361	D	0.000375	T	0.80513	0.4637	N	0.14661	0.345	0.80722	D	1	B;B	0.20459	0.043;0.045	B;B	0.22601	0.011;0.04	T	0.77330	-0.2628	10	0.42905	T	0.14	.	17.109	0.86670	0.0:1.0:0.0:0.0	.	86;86	P54821;P54821-2	PRRX1_HUMAN;.	L	39;86;86;86	ENSP00000451943:S39L;ENSP00000356734:S86L;ENSP00000239461:S86L;ENSP00000450762:S86L	ENSP00000239461:S86L	S	+	2	0	PRRX1	168955506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.372000	0.79612	2.352000	0.79861	0.655000	0.94253	TCA	PRRX1	-	superfamily_Homeodomain-like		0.423	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	C	NM_006902		170688882	+1	no_errors	ENST00000239461	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMB10	5699	genome.wustl.edu	37	16	67970623	67970626	+	Frame_Shift_Del	DEL	CCCT	CCCT	-			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CCCT	CCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:67970623_67970626delCCCT	ENST00000358514.4	-	1	364_367	c.27_30delAGGG	c.(25-30)cgagggfs	p.RG9fs	CTC-479C5.12_ENST00000573493.1_5'Flank	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	9					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell morphogenesis (GO:0000902)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|humoral immune response (GO:0006959)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	Carfilzomib(DB08889)	AGGAGAAGCCCCCTCGGGGCTCCA	0.672																																																	0																																										SO:0001589	frameshift_variant	5699			Y13640	CCDS10853.1	16q22.1	2008-02-05			ENSG00000205220	ENSG00000205220		"""Proteasome (prosome, macropain) subunits"""	9538	protein-coding gene	gene with protein product		176847		MECL1		8268911	Standard	NM_002801		Approved	LMP10, MGC1665, beta2i	uc002eux.2	P40306	OTTHUMG00000137553	ENST00000358514.4:c.27_30delAGGG	16.37:g.67970623_67970626delCCCT	ENSP00000351314:p.Arg9fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5J4|Q5U098	Frame_Shift_Del	DEL	pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB	p.G10fs	ENST00000358514.4	37	c.30_27	CCDS10853.1	16																																																																																			PSMB10	-	NULL		0.672	PSMB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB10	HGNC	protein_coding	OTTHUMT00000268887.1	CCCT	NM_002801		67970626	-1	no_errors	ENST00000358514	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:0.999:0.928:0.344	-
PTCHD3	374308	genome.wustl.edu	37	10	27702727	27702727	+	Silent	SNP	C	C	T	rs141109338		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:27702727C>T	ENST00000438700.3	-	1	570	c.453G>A	c.(451-453)gcG>gcA	p.A151A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	151					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGTGCCCAGCGCGGCTGTCA	0.677																																																	0								C		0,4406		0,0,2203	60.0	69.0	66.0		453	-2.0	0.0	10	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTCHD3	NM_001034842.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		151/768	27702727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.453G>A	10.37:g.27702727C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.A151	ENST00000438700.3	37	c.453	CCDS31173.1	10																																																																																			PTCHD3	-	NULL		0.677	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	C	XM_370541		27702727	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	silent	SNP	0.007	T
PTEN	5728	genome.wustl.edu	37	10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:89717661C>G	ENST00000371953.3	+	7	2043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(6)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											149.0	129.0	136.0					10																	89717661		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.686C>G	10.37:g.89717661C>G	ENSP00000361021:p.Ser229*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S229*	ENST00000371953.3	37	c.686	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.460257	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.48	5.48	0.80851	.	0.183008	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.118	19.3305	0.94285	0.0:1.0:0.0:0.0	.	.	.	.	X	229	.	.	S	+	2	0	PTEN	89707641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.724000	0.68500	2.571000	0.86741	0.585000	0.79938	TCA	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89717661	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PTPRF	5792	genome.wustl.edu	37	1	44070878	44070878	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:44070878G>C	ENST00000359947.4	+	18	3493	c.3153G>C	c.(3151-3153)caG>caC	p.Q1051H	PTPRF_ENST00000438120.1_Missense_Mutation_p.Q1042H|PTPRF_ENST00000372414.3_Missense_Mutation_p.Q1051H|PTPRF_ENST00000372413.3_Missense_Mutation_p.Q1042H|PTPRF_ENST00000422171.2_Missense_Mutation_p.Q399H|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1051	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACAATGGGCAGAGTGTGGAGG	0.587																																																	0													38.0	39.0	39.0					1																	44070878		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3153G>C	1.37:g.44070878G>C	ENSP00000353030:p.Gln1051His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1051H	ENST00000359947.4	37	c.3153	CCDS489.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.18|14.18|14.18	2.457118|2.457118|2.457118	0.43634|0.43634|0.43634	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	.|T;T;T;T;T;T|.	.|0.54279|.	.|0.59;0.59;0.59;0.59;0.59;0.58|.	5.31|5.31|5.31	3.32|3.32|3.32	0.38043|0.38043|0.38043	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	.|0.000000|.	.|0.31392|.	.|N|.	.|0.007732|.	T|T|T	0.41488|0.41488|0.41488	0.1161|0.1161|0.1161	L|L|L	0.28192|0.28192|0.28192	0.835|0.835|0.835	0.51233|0.51233|0.51233	D|D|D	0.99991|0.99991|0.99991	.|B;B;B;D;B|.	.|0.67145|.	.|0.001;0.001;0.012;0.996;0.006|.	.|B;B;B;P;B|.	.|0.61201|.	.|0.003;0.003;0.009;0.885;0.013|.	T|T|T	0.16808|0.16808|0.16808	-1.0390|-1.0390|-1.0390	5|10|5	.|0.45353|.	.|T|.	.|0.12|.	.|.|.	7.1201|7.1201|7.1201	0.25440|0.25440|0.25440	0.1495:0.1417:0.7088:0.0|0.1495:0.1417:0.7088:0.0|0.1495:0.1417:0.7088:0.0	.|.|.	.|696;399;617;1042;1051|.	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.|.;.;.;.;PTPRF_HUMAN|.	Q|H|T	424;465|1051;1042;1051;1042;399;112|697	.|ENSP00000353030:Q1051H;ENSP00000398822:Q1042H;ENSP00000361491:Q1051H;ENSP00000361490:Q1042H;ENSP00000387885:Q399H;ENSP00000361484:Q112H|.	.|ENSP00000353030:Q1051H|.	E|Q|R	+|+|+	1|3|2	0|2|0	PTPRF|PTPRF|PTPRF	43843465|43843465|43843465	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.393000|0.393000|0.393000	0.30537|0.30537|0.30537	3.336000|3.336000|3.336000	0.52113|0.52113|0.52113	1.406000|1.406000|1.406000	0.46857|0.46857|0.46857	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAG|CAG|AGA	PTPRF	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44070878	+1	no_errors	ENST00000359947	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB11FIP1	80223	genome.wustl.edu	37	8	37734763	37734763	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:37734763C>A	ENST00000330843.4	-	2	690	c.678G>T	c.(676-678)ttG>ttT	p.L226F	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.L78F|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L226F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L78F	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	226					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTCTTCTGCAAATTTGACT	0.473																																																	0													233.0	213.0	220.0					8																	37734763		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.678G>T	8.37:g.37734763C>A	ENSP00000331342:p.Leu226Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L226F	ENST00000330843.4	37	c.678	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864571	0.51482	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.60797	1.12;1.53;0.3;0.16	5.63	4.74	0.60224	.	0.000000	0.49916	D	0.000127	T	0.75213	0.3819	M	0.82630	2.6	0.50039	D	0.999847	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.984;0.995;0.993;0.992	T	0.77827	-0.2443	10	0.66056	D	0.02	-12.3291	11.0211	0.47718	0.0:0.8576:0.0:0.1424	.	78;78;226;226	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	F	226;226;78;78	ENSP00000287263:L226F;ENSP00000331342:L226F;ENSP00000430009:L78F;ENSP00000430680:L78F	ENSP00000287263:L226F	L	-	3	2	RAB11FIP1	37853921	1.000000	0.71417	0.996000	0.52242	0.052000	0.14988	3.333000	0.52090	2.644000	0.89710	0.655000	0.94253	TTG	RAB11FIP1	-	NULL		0.473	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37734763	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	1.000	A
PUF60	22827	genome.wustl.edu	37	8	144904017	144904017	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:144904017T>C	ENST00000526683.1	-	3	733	c.178A>G	c.(178-180)Acg>Gcg	p.T60A	PUF60_ENST00000453551.2_Missense_Mutation_p.T17A|PUF60_ENST00000313352.7_Missense_Mutation_p.T17A|PUF60_ENST00000456095.2_Missense_Mutation_p.T31A|PUF60_ENST00000527197.1_Missense_Mutation_p.T31A|PUF60_ENST00000349157.6_Missense_Mutation_p.T60A|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	60	Inhibits homodimerization.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCTCGGGCGTCAGGGGAGGC	0.657																																																	0													29.0	35.0	33.0					8																	144904017		2057	4173	6230	SO:0001583	missense	22827			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.178A>G	8.37:g.144904017T>C	ENSP00000434359:p.Thr60Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.T60A	ENST00000526683.1	37	c.178	CCDS47934.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.166958|4.166958	0.78339|0.78339	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162|ENST00000527744	T;T;T;T;T;T;T;T;T;T|.	0.19250|.	2.63;2.64;2.58;2.64;2.44;2.57;2.6;3.4;3.29;2.16|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69088|.	0.3072|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;B|.	0.45428|.	0.594;0.858;0.27|.	B;P;B|.	0.45712|.	0.341;0.491;0.184|.	T|.	0.68116|.	-0.5494|.	10|.	0.29301|.	T|.	0.29|.	.|.	14.1021|14.1021	0.65062|0.65062	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	31;60;60|.	Q9UHX1-5;Q9UHX1-2;Q9UHX1|.	.;.;PUF60_HUMAN|.	A|W	60;17;17;31;60;31;59;97;97;97|57	ENSP00000434359:T60A;ENSP00000402953:T17A;ENSP00000322016:T17A;ENSP00000395417:T31A;ENSP00000322036:T60A;ENSP00000431960:T31A;ENSP00000432610:T59A;ENSP00000434863:T97A;ENSP00000437309:T97A;ENSP00000433403:T97A|.	ENSP00000322016:T17A|.	T|X	-|-	1|3	0|0	PUF60|PUF60	144976005|144976005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.448000|3.448000	0.52943|0.52943	1.927000|1.927000	0.55829|0.55829	0.460000|0.460000	0.39030|0.39030	ACG|TGA	PUF60	-	tigrfam_PolyU-bd		0.657	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	T	NM_014281		144904017	-1	no_errors	ENST00000526683	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB11FIP3	9727	genome.wustl.edu	37	16	570765	570765	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:570765C>A	ENST00000262305.4	+	14	2585	c.2197C>A	c.(2197-2199)Cgc>Agc	p.R733S	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R778S|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R437S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	733	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GATCAACTTCCGCCTGCAGGA	0.587																																					Melanoma(160;2366 2595 4474 8099)												0													159.0	127.0	138.0					16																	570765		2201	4300	6501	SO:0001583	missense	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2197C>A	16.37:g.570765C>A	ENSP00000262305:p.Arg733Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.R778S	ENST00000262305.4	37	c.2332	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410624	0.62399	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585;ENST00000450428;ENST00000448401	.	.	.	4.35	4.35	0.52113	Rab-binding domain FIP-RBD (2);	.	.	.	.	T	0.77136	0.4086	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.79850	-0.1629	8	0.66056	D	0.02	-32.7857	15.9773	0.80079	0.0:1.0:0.0:0.0	.	778;437;733	O75154-3;O75154-2;O75154	.;.;RFIP3_HUMAN	S	733;778;654;437;437	.	ENSP00000262305:R733S	R	+	1	0	RAB11FIP3	510766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.009000	0.49552	2.411000	0.81874	0.561000	0.74099	CGC	RAB11FIP3	-	pfam_Rab-bd_FIP-RBD		0.587	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4	C	NM_014700		570765	+1	no_errors	ENST00000457159	ensembl	human	known	70_37	missense	SNP	1.000	A
RARB	5915	genome.wustl.edu	37	3	25542806	25542806	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:25542806C>T	ENST00000404969.1	+	3	461	c.461C>T	c.(460-462)tCc>tTc	p.S154F	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.S35F|RARB_ENST00000437042.2_Missense_Mutation_p.S35F|RARB_ENST00000330688.4_Missense_Mutation_p.S147F			P10826	RARB_HUMAN	retinoic acid receptor, beta	154	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GTGGGAATGTCCAAAGAATGT	0.403																																																	0													94.0	93.0	93.0					3																	25542806		2203	4300	6503	SO:0001583	missense	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.461C>T	3.37:g.25542806C>T	ENSP00000385865:p.Ser154Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S154F	ENST00000404969.1	37	c.461		3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514482	0.85389	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);Zinc finger, nuclear hormone receptor-type (3);	0.061317	0.64402	D	0.000003	D	0.98501	0.9500	M	0.85373	2.75	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.76071	0.987;0.968	D	0.99828	1.1052	10	0.87932	D	0	.	17.5994	0.88022	0.0:1.0:0.0:0.0	.	154;147	P10826;F1D8S6	RARB_HUMAN;.	F	154;154;154;35;147;35	ENSP00000373282:S154F;ENSP00000385865:S154F;ENSP00000398840:S35F;ENSP00000332296:S147F;ENSP00000391391:S35F	ENSP00000332296:S147F	S	+	2	0	RARB	25517810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.138000	0.66242	0.650000	0.86243	TCC	RARB	-	pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt		0.403	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		C	NM_000965, NM_016152		25542806	+1	no_errors	ENST00000404969	ensembl	human	known	70_37	missense	SNP	1.000	T
RASSF7	8045	genome.wustl.edu	37	11	561798	561798	+	Silent	SNP	G	G	C	rs143459467	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:561798G>C	ENST00000397583.3	+	2	463	c.30G>C	c.(28-30)ctG>ctC	p.L10L	RASSF7_ENST00000524468.1_Intron|RASSF7_ENST00000431809.1_Silent_p.L10L|RASSF7_ENST00000344375.4_Silent_p.L10L|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000454668.2_Silent_p.L10L|RASSF7_ENST00000397582.3_Silent_p.L10L|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	10	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCATGGAGCTGAAGGTGTGGG	0.622																																					Pancreas(184;1170 3913 7268)												0													115.0	79.0	91.0					11																	561798		2201	4300	6501	SO:0001819	synonymous_variant	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.30G>C	11.37:g.561798G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9N9|Q3KP41|Q3KP42	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.L10	ENST00000397583.3	37	c.30	CCDS7702.1	11																																																																																			RASSF7	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.622	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	G	NM_003475		561798	+1	no_errors	ENST00000344375	ensembl	human	known	70_37	silent	SNP	1.000	C
RASGRP2	10235	genome.wustl.edu	37	11	64507254	64507254	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:64507254G>A	ENST00000354024.3	-	7	802	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	RASGRP2_ENST00000377494.1_Missense_Mutation_p.H184Y|RASGRP2_ENST00000377497.3_Missense_Mutation_p.H184Y|RASGRP2_ENST00000394432.3_Missense_Mutation_p.H184Y	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	184	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCAGCCATGAGTCACGAAA	0.582																																																	0													94.0	79.0	84.0					11																	64507254		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.550C>T	11.37:g.64507254G>A	ENSP00000338864:p.His184Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H184Y	ENST00000354024.3	37	c.550	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681114	0.88542	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.64	4.64	0.57946	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	M	0.70903	2.155	0.80722	D	1	D;P	0.54207	0.965;0.931	P;P	0.61132	0.884;0.884	T	0.56565	-0.7958	10	0.72032	D	0.01	-1.5648	15.3728	0.74581	0.0:0.0:1.0:0.0	.	184;184	Q7LDG7;A6NDC7	GRP2_HUMAN;.	Y	184	ENSP00000366714:H184Y;ENSP00000377953:H184Y;ENSP00000366717:H184Y;ENSP00000338864:H184Y;ENSP00000399114:H184Y	ENSP00000338864:H184Y	H	-	1	0	RASGRP2	64263830	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.463000	0.97652	2.291000	0.77112	0.555000	0.69702	CAT	RASGRP2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.582	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	G	NM_153819		64507254	-1	no_errors	ENST00000377494	ensembl	human	known	70_37	missense	SNP	1.000	A
RRBP1	6238	genome.wustl.edu	37	20	17639306	17639306	+	Missense_Mutation	SNP	G	G	T	rs375871731		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:17639306G>T	ENST00000377813.1	-	3	2150	c.1847C>A	c.(1846-1848)cCa>cAa	p.P616Q	RRBP1_ENST00000360807.4_Missense_Mutation_p.P186Q|RRBP1_ENST00000377807.2_Missense_Mutation_p.P186Q|RRBP1_ENST00000246043.4_Missense_Mutation_p.P616Q|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	616					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGGTGCCTCTGGGCTCTGGGC	0.483																																																	0													147.0	134.0	139.0					20																	17639306		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1847C>A	20.37:g.17639306G>T	ENSP00000367044:p.Pro616Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.P616Q	ENST00000377813.1	37	c.1847		20	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.924954	0.00493	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.41	4.31	0.51392	.	0.242674	0.21529	N	0.073069	T	0.13798	0.0334	N	0.02802	-0.49	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12734	-1.0536	10	0.02654	T	1	-16.6036	11.406	0.49898	0.0:0.0:0.4389:0.5611	.	186	Q9P2E9-3	.	Q	186;616;186;616	ENSP00000354045:P186Q;ENSP00000367044:P616Q;ENSP00000367038:P186Q;ENSP00000246043:P616Q	ENSP00000246043:P616Q	P	-	2	0	RRBP1	17587306	0.361000	0.24972	0.996000	0.52242	0.113000	0.19764	0.072000	0.14617	1.019000	0.39547	-0.467000	0.05162	CCA	RRBP1	-	NULL		0.483	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17639306	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	0.971	T
RYR1	6261	genome.wustl.edu	37	19	38995490	38995490	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:38995490G>A	ENST00000359596.3	+	51	8170	c.8170G>A	c.(8170-8172)Gag>Aag	p.E2724K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2724K|RYR1_ENST00000355481.4_Missense_Mutation_p.E2724K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2724	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCTAAGGCAGAGAAAAAGGC	0.582																																																	0													62.0	57.0	59.0					19																	38995490		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8170G>A	19.37:g.38995490G>A	ENSP00000352608:p.Glu2724Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E2724K	ENST00000359596.3	37	c.8170	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579960	0.65992	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96856	-4.14;-4.15;-4.15	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000004	D	0.94155	0.8125	L	0.60455	1.87	0.46981	D	0.999276	B;B	0.33238	0.403;0.281	B;B	0.29942	0.109;0.05	D	0.93524	0.6864	10	0.35671	T	0.21	.	15.8128	0.78578	0.0:0.0:1.0:0.0	.	2724;2724	P21817-2;P21817	.;RYR1_HUMAN	K	2724	ENSP00000352608:E2724K;ENSP00000347667:E2724K;ENSP00000354254:E2724K	ENSP00000347667:E2724K	E	+	1	0	RYR1	43687330	1.000000	0.71417	0.974000	0.42286	0.754000	0.42855	7.685000	0.84117	2.334000	0.79466	0.491000	0.48974	GAG	RYR1	-	NULL		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38995490	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	missense	SNP	1.000	A
SAPCD2	89958	genome.wustl.edu	37	9	139960103	139960105	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:139960103_139960105delCTC	ENST00000409687.3	-	3	827_829	c.700_702delGAG	c.(700-702)gagdel	p.E234del	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	234						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)											CCTGCTCCAGCTCCTTCATCTGC	0.611																																																	0																																										SO:0001651	inframe_deletion	89958			BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.700_702delGAG	9.37:g.139960103_139960105delCTC	ENSP00000386348:p.Glu234del	Somatic		WXS	Illumina HiSeq	Phase_IV		In_Frame_Del	DEL	pfam_APC_dom	p.E234in_frame_del	ENST00000409687.3	37	c.702_700	CCDS7027.2	9																																																																																			SAPCD2	-	pfam_APC_dom		0.611	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAPCD2	HGNC	protein_coding	OTTHUMT00000055215.2	CTC	NM_178448		139960105	-1	no_errors	ENST00000409687	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
SBF1	6305	genome.wustl.edu	37	22	50902823	50902823	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr22:50902823G>A	ENST00000390679.3	-	15	1868	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	SBF1_ENST00000348911.6_Missense_Mutation_p.R563W|SBF1_ENST00000380817.3_Missense_Mutation_p.R562W			O95248	MTMR5_HUMAN	SET binding factor 1	562					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTCCAGCCGCCGGGCGCTG	0.637																																																	0													59.0	67.0	64.0					22																	50902823		2105	4211	6316	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1684C>T	22.37:g.50902823G>A	ENSP00000375097:p.Arg562Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R562W	ENST00000390679.3	37	c.1684		22	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996908	0.54147	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.57595	0.39;0.39;0.39	4.33	0.623	0.17654	.	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.73332	-0.4016	10	0.87932	D	0	.	12.5995	0.56489	0.0:0.0:0.5697:0.4303	.	562;563;562	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	W	562;563;573;572;562	ENSP00000370196:R562W;ENSP00000252027:R563W;ENSP00000375097:R562W	ENSP00000336522:R572W	R	-	1	2	SBF1	49249689	0.785000	0.28726	0.816000	0.32577	0.406000	0.30931	0.551000	0.23361	0.399000	0.25367	0.462000	0.41574	CGG	SBF1	-	pfam_SBF2		0.637	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		G			50902823	-1	no_errors	ENST00000380817	ensembl	human	known	70_37	missense	SNP	0.986	A
SCFD2	152579	genome.wustl.edu	37	4	53752028	53752028	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:53752028G>A	ENST00000401642.3	-	8	1981	c.1848C>T	c.(1846-1848)agC>agT	p.S616S	SCFD2_ENST00000388940.4_Silent_p.S571S	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	616					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GATGAGGCCGGCTCACCTGCA	0.498																																																	0													85.0	69.0	74.0					4																	53752028		2203	4300	6503	SO:0001819	synonymous_variant	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1848C>T	4.37:g.53752028G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.S616	ENST00000401642.3	37	c.1848	CCDS33984.1	4																																																																																			SCFD2	-	pfam_Sec1-like,superfamily_Sec1-like		0.498	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	G	NM_152540		53752028	-1	no_errors	ENST00000401642	ensembl	human	known	70_37	silent	SNP	1.000	A
SEC24A	10802	genome.wustl.edu	37	5	134010893	134010893	+	Silent	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:134010893C>G	ENST00000398844.2	+	6	1425	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	SEC24A_ENST00000322887.4_Silent_p.L379L	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	379					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGAAACTCAACTGTAACC	0.418																																																	0													70.0	64.0	66.0					5																	134010893		1858	4103	5961	SO:0001819	synonymous_variant	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1137C>G	5.37:g.134010893C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.L379	ENST00000398844.2	37	c.1137	CCDS43363.1	5																																																																																			SEC24A	-	NULL		0.418	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	C			134010893	+1	no_errors	ENST00000398844	ensembl	human	known	70_37	silent	SNP	0.999	G
SLC12A5	57468	genome.wustl.edu	37	20	44665926	44665926	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:44665926C>G	ENST00000454036.2	+	6	632	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	SLC12A5_ENST00000372315.1_Missense_Mutation_p.L172V|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L172V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	195					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCAGGTCTCTGGGCCCAGA	0.602																																																	0													77.0	70.0	73.0					20																	44665926		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.583C>G	20.37:g.44665926C>G	ENSP00000387694:p.Leu195Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L195V	ENST00000454036.2	37	c.583	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539776	0.65085	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.99186	-5.53;-5.53;-5.53	4.79	2.86	0.33363	Amino acid permease domain (1);	0.000000	0.64402	D	0.000006	D	0.99465	0.9810	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98771	1.0728	10	0.87932	D	0	.	10.1777	0.42948	0.0:0.8389:0.0:0.1611	.	195;172;172	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	V	195;172;172	ENSP00000387694:L195V;ENSP00000361389:L172V;ENSP00000243964:L172V	ENSP00000243964:L172V	L	+	1	2	SLC12A5	44099333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.787000	0.62432	0.632000	0.30432	-0.150000	0.13652	CTG	SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.602	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44665926	+1	no_errors	ENST00000454036	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC35E1	79939	genome.wustl.edu	37	19	16664607	16664607	+	Silent	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:16664607G>C	ENST00000595753.1	-	6	1133	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	CTD-3222D19.2_ENST00000409035.1_3'UTR|CTD-3222D19.11_ENST00000597357.1_RNA|SLC35E1_ENST00000593812.1_5'Flank	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	372					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L228L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGGGGAAGAGGAGGCCGTTGT	0.587																																																	1	Substitution - coding silent(1)	lung(1)											121.0	115.0	117.0					19																	16664607		2203	4300	6503	SO:0001819	synonymous_variant	79939			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.1116C>G	19.37:g.16664607G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBQ2|Q96JV7	Silent	SNP	pfam_DUF250,pfam_DMT,pfam_UAA	p.L372	ENST00000595753.1	37	c.1116	CCDS12346.2	19																																																																																			SLC35E1	-	NULL		0.587	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	G	NM_024881		16664607	-1	no_errors	ENST00000595753	ensembl	human	known	70_37	silent	SNP	0.003	C
SLC17A7	57030	genome.wustl.edu	37	19	49934353	49934353	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:49934353G>C	ENST00000221485.3	-	11	1479	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	SLC17A7_ENST00000543531.1_Missense_Mutation_p.I424M|SLC17A7_ENST00000600601.1_Missense_Mutation_p.I369M	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	436					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCATGAGGATGCTGGCGT	0.612																																																	0													94.0	76.0	82.0					19																	49934353		2203	4300	6503	SO:0001583	missense	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1308C>G	19.37:g.49934353G>C	ENSP00000221485:p.Ile436Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I436M	ENST00000221485.3	37	c.1308	CCDS12764.1	19	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339471	0.81911	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.55588	0.51;0.51	4.38	4.38	0.52667	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000015	T	0.72581	0.3478	M	0.82132	2.575	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.74348	0.977;0.983	T	0.77346	-0.2622	10	0.87932	D	0	.	14.8148	0.70024	0.0:0.0:1.0:0.0	.	436;278	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	M	436;424	ENSP00000221485:I436M;ENSP00000441767:I424M	ENSP00000221485:I436M	I	-	3	3	SLC17A7	54626165	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.403000	0.44530	2.462000	0.83206	0.484000	0.47621	ATC	SLC17A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.612	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	G			49934353	-1	no_errors	ENST00000221485	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC45A2	51151	genome.wustl.edu	37	5	33963886	33963886	+	Nonsense_Mutation	SNP	G	G	T	rs375077956		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:33963886G>T	ENST00000296589.4	-	3	944	c.798C>A	c.(796-798)taC>taA	p.Y266*	SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.Y207*|SLC45A2_ENST00000382102.3_Nonsense_Mutation_p.Y266*|SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000345083.5_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	266					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACCATACTCGTACATTCCAT	0.453																																					Ovarian(31;380 859 8490 22203 49048)												0													145.0	151.0	149.0					5																	33963886		2203	4300	6503	SO:0001587	stop_gained	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.798C>A	5.37:g.33963886G>T	ENSP00000296589:p.Tyr266*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.Y266*	ENST00000296589.4	37	c.798	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159866	0.57368	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	.	.	.	5.83	-11.6	0.00059	.	1.663060	0.03398	N	0.202887	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.3921	13.7826	0.63091	0.3107:0.0:0.6001:0.0892	.	.	.	.	X	266;207;266;91	.	ENSP00000296589:Y266X	Y	-	3	2	SLC45A2	33999643	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	-0.457000	0.06745	-2.594000	0.00455	-0.471000	0.05019	TAC	SLC45A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	G	NM_016180		33963886	-1	no_errors	ENST00000296589	ensembl	human	known	70_37	nonsense	SNP	0.000	T
SLC9A2	6549	genome.wustl.edu	37	2	103324666	103324666	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:103324666C>G	ENST00000233969.2	+	12	2299	c.2157C>G	c.(2155-2157)ttC>ttG	p.F719L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	719					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CAGAACAGTTCTCCAAGAAAT	0.547																																																	0													89.0	99.0	96.0					2																	103324666		2203	4300	6503	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2157C>G	2.37:g.103324666C>G	ENSP00000233969:p.Phe719Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F719L	ENST00000233969.2	37	c.2157	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018475	0.19355	.	.	ENSG00000115616	ENST00000233969	T	0.54279	0.58	5.48	2.69	0.31865	.	1.299920	0.04495	N	0.380168	T	0.32734	0.0839	N	0.14661	0.345	0.25419	N	0.988286	B	0.14012	0.009	B	0.09377	0.004	T	0.23013	-1.0200	10	0.11485	T	0.65	.	5.0175	0.14345	0.159:0.5922:0.0:0.2488	.	719	Q9UBY0	SL9A2_HUMAN	L	719	ENSP00000233969:F719L	ENSP00000233969:F719L	F	+	3	2	SLC9A2	102691098	0.959000	0.32827	1.000000	0.80357	0.941000	0.58515	0.098000	0.15189	0.795000	0.33922	0.655000	0.94253	TTC	SLC9A2	-	prints_Na/H_exchanger_2		0.547	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103324666	+1	no_errors	ENST00000233969	ensembl	human	known	70_37	missense	SNP	0.996	G
SLCO2A1	6578	genome.wustl.edu	37	3	133663963	133663963	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr3:133663963C>G	ENST00000310926.4	-	10	1710	c.1437G>C	c.(1435-1437)atG>atC	p.M479I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.M403I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	479	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TTGCAGAGCTCATGTTGATGT	0.582																																																	0													133.0	131.0	131.0					3																	133663963		2203	4300	6503	SO:0001583	missense	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1437G>C	3.37:g.133663963C>G	ENSP00000311291:p.Met479Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M479I	ENST00000310926.4	37	c.1437	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149788	0.37923	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.04119	3.7;3.7	5.45	-1.37	0.09056	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	.	.	.	.	T	0.01124	0.0037	N	0.00399	-1.545	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.47086	-0.9144	9	0.19590	T	0.45	.	2.8633	0.05593	0.149:0.2594:0.4138:0.1778	.	298;403;479	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	I	479;403	ENSP00000311291:M479I;ENSP00000418893:M403I	ENSP00000311291:M479I	M	-	3	0	SLCO2A1	135146653	0.000000	0.05858	0.001000	0.08648	0.891000	0.51852	-0.920000	0.04013	-0.243000	0.09653	0.491000	0.48974	ATG	SLCO2A1	-	pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	C	NM_005630		133663963	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	missense	SNP	0.001	G
SOCS2	8835	genome.wustl.edu	37	12	93968515	93968516	+	Frame_Shift_Ins	INS	-	-	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:93968515_93968516insT	ENST00000340600.2	+	3	755_756	c.157_158insT	c.(157-159)atgfs	p.M53fs	SOCS2-AS1_ENST00000500986.1_RNA|SOCS2_ENST00000549122.1_Frame_Shift_Ins_p.M53fs|SOCS2_ENST00000548537.1_3'UTR|SOCS2-AS1_ENST00000499137.2_RNA|SOCS2_ENST00000549206.1_Frame_Shift_Ins_p.M53fs|SOCS2_ENST00000551556.1_Frame_Shift_Ins_p.M53fs|SOCS2_ENST00000536696.2_Frame_Shift_Ins_p.M53fs	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	53	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTGGGGAAGTATGACTGTTAAT	0.356																																																	0																																										SO:0001589	frameshift_variant	8835			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.158dupT	12.37:g.93968516_93968516dupT	ENSP00000339428:p.Met53fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3D1|O14542|O95102|Q9UKS5	Frame_Shift_Ins	INS	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2	p.M53fs	ENST00000340600.2	37	c.157_158	CCDS9047.1	12																																																																																			SOCS2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.356	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS2	HGNC	protein_coding	OTTHUMT00000407731.2	-			93968516	+1	no_errors	ENST00000340600	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
SORCS1	114815	genome.wustl.edu	37	10	108466392	108466392	+	Splice_Site	SNP	G	G	T	rs372404908		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:108466392G>T	ENST00000263054.6	-	8	1151	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	SORCS1_ENST00000344440.6_Splice_Site_p.L382M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	382					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTGATGTCAGCTGGATCATA	0.478																																																	0													113.0	101.0	105.0					10																	108466392		2203	4300	6503	SO:0001630	splice_region_variant	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1144-1C>A	10.37:g.108466392G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L382M	ENST00000263054.6	37	c.1144	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964034	0.53507	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.34859	1.34;1.34	5.64	3.42	0.39159	VPS10 (1);	0.283456	0.29355	N	0.012383	T	0.37758	0.1015	L	0.29908	0.895	0.41780	D	0.989811	P;P;P;P;P	0.52170	0.919;0.951;0.951;0.919;0.951	P;P;P;P;P	0.58928	0.638;0.848;0.802;0.709;0.726	T	0.09975	-1.0650	9	.	.	.	-13.1793	7.6859	0.28540	0.2102:0.131:0.6588:0.0	.	382;382;382;382;382	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	382	ENSP00000263054:L382M;ENSP00000345964:L382M	.	L	-	1	2	SORCS1	108456382	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	1.089000	0.30890	1.360000	0.45960	0.655000	0.94253	CTG	SORCS1	-	smart_VPS10		0.478	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	G	NM_052918	Missense_Mutation	108466392	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	missense	SNP	1.000	T
SPARCL1	8404	genome.wustl.edu	37	4	88416150	88416150	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:88416150C>T	ENST00000282470.6	-	3	654	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SPARCL1_ENST00000418378.1_Missense_Mutation_p.D62N|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	62					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TGGGAATCGTCTTCTGTGGAT	0.363																																																	0													125.0	133.0	131.0					4																	88416150		2203	4300	6503	SO:0001583	missense	8404			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.184G>A	4.37:g.88416150C>T	ENSP00000282470:p.Asp62Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.D62N	ENST00000282470.6	37	c.184	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495203	0.26774	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.42	2.54	0.30619	.	0.254691	0.29159	N	0.012971	T	0.20618	0.0496	N	0.19112	0.55	0.20403	N	0.999904	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.18777	-1.0326	10	0.10377	T	0.69	-1.8187	5.0193	0.14352	0.0:0.7083:0.0:0.2917	.	62;62	Q8N4S1;Q14515	.;SPRL1_HUMAN	N	62	ENSP00000282470:D62N;ENSP00000414856:D62N;ENSP00000423483:D62N;ENSP00000416971:D62N;ENSP00000438188:D62N;ENSP00000423448:D62N;ENSP00000444832:D62N	ENSP00000282470:D62N	D	-	1	0	SPARCL1	88635174	0.999000	0.42202	0.897000	0.35233	0.040000	0.13550	0.606000	0.24194	0.695000	0.31675	0.655000	0.94253	GAC	SPARCL1	-	pirsf_SPARC-like_p1		0.363	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	C			88416150	-1	no_errors	ENST00000282470	ensembl	human	known	70_37	missense	SNP	0.918	T
RP11-383M4.6	0	genome.wustl.edu	37	9	84562977	84562977	+	lincRNA	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:84562977C>G	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ATCTTCAAATCAGAAGAGGAT	0.423																																																	0																																												389762																															9.37:g.84562977C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			SPATA31D3	-	-		0.423	RP11-383M4.6-001	KNOWN	basic	lincRNA	SPATA31D3	HGNC	lincRNA	OTTHUMT00000453562.1	C			84562977	+1	no_errors	ENST00000334208	ensembl	human	known	70_37	rna	SNP	0.000	G
SPINT1	6692	genome.wustl.edu	37	15	41146702	41146702	+	Missense_Mutation	SNP	G	G	C	rs199651027	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr15:41146702G>C	ENST00000344051.4	+	7	1330	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q	SPINT1_ENST00000431806.1_Missense_Mutation_p.E350Q|SPINT1_ENST00000562057.1_Missense_Mutation_p.E350Q			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	366	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCCTCCGACGAGGCTGCCTG	0.632																																																	0													48.0	50.0	49.0					15																	41146702		2203	4300	6503	SO:0001583	missense	6692				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1096G>C	15.37:g.41146702G>C	ENSP00000342098:p.Glu366Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E366Q	ENST00000344051.4	37	c.1096	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243819	0.79912	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.98862	-5.19;-5.19	5.4	5.4	0.78164	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.97994	1.0356	10	0.66056	D	0.02	-33.0403	18.7683	0.91881	0.0:0.0:1.0:0.0	.	350;350;366	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	Q	366;333;350	ENSP00000342098:E366Q;ENSP00000409935:E350Q	ENSP00000342098:E366Q	E	+	1	0	SPINT1	38933994	1.000000	0.71417	0.989000	0.46669	0.449000	0.32228	8.938000	0.92943	2.541000	0.85698	0.563000	0.77884	GAG	SPINT1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.632	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	G	NM_003710		41146702	+1	no_errors	ENST00000344051	ensembl	human	known	70_37	missense	SNP	1.000	C
STAM2	10254	genome.wustl.edu	37	2	153004816	153004817	+	Splice_Site	INS	-	-	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:153004816_153004817insA	ENST00000263904.4	-	3	475		c.e3-2		STAM2_ENST00000465460.1_Splice_Site	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTTTCGCTCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	10254			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.126-2->T	2.37:g.153004827_153004827dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Splice_Site	INS	-	e3-2	ENST00000263904.4	37	c.126-3_126-2	CCDS2196.1	2																																																																																			STAM2	-	-		0.297	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	-	NM_005843	Intron	153004817	-1	no_errors	ENST00000263904	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.002	A
STK11	6794	genome.wustl.edu	37	19	1218457	1218458	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:1218457_1218458TC>AT	ENST00000326873.7	+	2	1505_1506	c.332_333TC>AT	c.(331-333)aTC>aAT	p.I111N	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAATGTCATCCAGCTGGTGG	0.554		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)																																								SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		Exception_encountered	19.37:g.1218457_1218458delinsAT	ENSP00000324856:p.Ile111Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	Missense_Mutation|Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I111N|p.I111	ENST00000326873.7	37	c.332|c.333	CCDS45896.1	19																																																																																			STK11	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.554	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	T|C	NM_000455		1218457|1218458	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense|silent	SNP	1.000	A|T
STK11	6794	genome.wustl.edu	37	19	1221966	1221966	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:1221966C>T	ENST00000326873.7	+	7	2054	c.881C>T	c.(880-882)cCg>cTg	p.P294L		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTACGAACCGGCCAAGAGG	0.692		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	20	Whole gene deletion(20)	cervix(14)|lung(2)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											16.0	19.0	18.0					19																	1221966		1950	4061	6011	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.881C>T	19.37:g.1221966C>T	ENSP00000324856:p.Pro294Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P294L	ENST00000326873.7	37	c.881	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911551	0.52439	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87650	-2.28	3.56	3.56	0.40772	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051025	0.85682	D	0.000000	D	0.94656	0.8277	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.96002	0.8994	10	0.87932	D	0	-27.7662	15.4073	0.74890	0.0:1.0:0.0:0.0	.	294	Q15831	STK11_HUMAN	L	294	ENSP00000324856:P294L	ENSP00000324856:P294L	P	+	2	0	STK11	1172966	1.000000	0.71417	0.950000	0.38849	0.051000	0.14879	5.542000	0.67218	2.290000	0.77057	0.561000	0.74099	CCG	STK11	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.692	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	C	NM_000455		1221966	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMB8	5696	genome.wustl.edu	37	6	32805780	32805780	+	IGR	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:32805780G>A	ENST00000374882.3	-	0	1124				TAP2_ENST00000374897.2_Silent_p.V77V|TAP2_ENST00000452392.2_Silent_p.V77V|TAP2_ENST00000374899.4_Silent_p.V77V	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CTCTCAGGGAGACAGTCAGGG	0.692																																					NSCLC(48;53 1172 10859 13624 22883)												0													37.0	42.0	40.0					6																	32805780		1509	2708	4217	SO:0001628	intergenic_variant	6891				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32805780G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.V77	ENST00000374882.3	37	c.231	CCDS4757.1	6																																																																																			TAP2	-	prints_ABC_B3,tigrfam_Ag_transporter2		0.692	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000076617.3	G	NM_148919		32805780	-1	no_errors	ENST00000374897	ensembl	human	known	70_37	silent	SNP	0.997	A
TAS2R1	50834	genome.wustl.edu	37	5	9629839	9629839	+	Silent	SNP	G	G	A	rs553576885		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr5:9629839G>A	ENST00000382492.2	-	1	624	c.306C>T	c.(304-306)ttC>ttT	p.F102F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	102					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGGCACAATAGAAAACGCCGA	0.443																																																	0													33.0	35.0	34.0					5																	9629839		2203	4300	6503	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.306C>T	5.37:g.9629839G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q646G8	Silent	SNP	pfam_TAS2_rcpt	p.F102	ENST00000382492.2	37	c.306	CCDS3876.1	5																																																																																			TAS2R1	-	pfam_TAS2_rcpt		0.443	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	G			9629839	-1	no_errors	ENST00000382492	ensembl	human	known	70_37	silent	SNP	1.000	A
TCHH	7062	genome.wustl.edu	37	1	152083004	152083004	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:152083004C>G	ENST00000368804.1	-	2	2688	c.2689G>C	c.(2689-2691)Gag>Cag	p.E897Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	897					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCAGCTGCTCTTGTAGGGCT	0.582																																																	0													129.0	142.0	137.0					1																	152083004		2135	4251	6386	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2689G>C	1.37:g.152083004C>G	ENSP00000357794:p.Glu897Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E897Q	ENST00000368804.1	37	c.2689	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	7.730	0.698942	0.15106	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	3.8	1.6	0.23607	.	.	.	.	.	T	0.01353	0.0044	L	0.32530	0.975	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.47142	-0.9140	9	0.13853	T	0.58	-3.4882	7.4966	0.27492	0.1868:0.631:0.1821:0.0	.	897	Q07283	TRHY_HUMAN	Q	897	ENSP00000357794:E897Q	ENSP00000357794:E897Q	E	-	1	0	TCHH	150349628	0.000000	0.05858	0.100000	0.21137	0.009000	0.06853	-0.680000	0.05197	0.675000	0.31264	0.450000	0.29827	GAG	TCHH	-	NULL		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152083004	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.144	G
TENM4	26011	genome.wustl.edu	37	11	78381478	78381478	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:78381478G>C	ENST00000278550.7	-	32	6374	c.5912C>G	c.(5911-5913)tCa>tGa	p.S1971*		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1971					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S1971L(1)									GTAGCCCACTGAGCGGATGGT	0.542																																																	1	Substitution - Missense(1)	skin(1)											59.0	60.0	60.0					11																	78381478		2000	4157	6157	SO:0001587	stop_gained	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5912C>G	11.37:g.78381478G>C	ENSP00000278550:p.Ser1971*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Nonsense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1971*	ENST00000278550.7	37	c.5912	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	49	15.603715	0.99839	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6946	0.91596	0.0:0.0:1.0:0.0	.	.	.	.	X	1971;435	.	.	S	-	2	0	ODZ4	78059126	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.601000	0.98297	2.716000	0.92895	0.655000	0.94253	TCA	TENM4	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	G			78381478	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TGFB1I1	7041	genome.wustl.edu	37	16	31488298	31488298	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:31488298C>T	ENST00000394863.3	+	10	1216	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TGFB1I1_ENST00000394858.2_Silent_p.S345S|TGFB1I1_ENST00000361773.3_Silent_p.S345S|TGFB1I1_ENST00000567607.1_Silent_p.S345S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	362	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|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, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CGGCGCTCAGCGCGCTCTGGC	0.716																																																	0													7.0	8.0	8.0					16																	31488298		2174	4239	6413	SO:0001819	synonymous_variant	7041			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1086C>T	16.37:g.31488298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.S362	ENST00000394863.3	37	c.1086	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.716	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	C			31488298	+1	no_errors	ENST00000394863	ensembl	human	known	70_37	silent	SNP	1.000	T
THBS2	7058	genome.wustl.edu	37	6	169640669	169640669	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:169640669G>A	ENST00000366787.3	-	7	1159	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	304					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGCTCCCAGAGAAACTGGTTA	0.428																																					Esophageal Squamous(91;219 1934 18562 44706)												0													83.0	80.0	81.0					6																	169640669		2203	4300	6503	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.910C>T	6.37:g.169640669G>A	ENSP00000355751:p.Leu304Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.L304F	ENST00000366787.3	37	c.910	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118279	0.56505	.	.	ENSG00000186340	ENST00000366787	D	0.82984	-1.67	5.29	5.29	0.74685	.	0.260360	0.20820	U	0.085100	T	0.74419	0.3714	M	0.68593	2.085	0.31287	N	0.689885	P	0.52842	0.956	P	0.47044	0.535	T	0.78244	-0.2279	10	0.72032	D	0.01	-48.3136	4.6196	0.12444	0.0816:0.1411:0.6107:0.1666	.	304	P35442	TSP2_HUMAN	F	304	ENSP00000355751:L304F	ENSP00000355751:L304F	L	-	1	0	THBS2	169382594	0.996000	0.38824	0.976000	0.42696	0.961000	0.63080	2.521000	0.45563	2.469000	0.83416	0.561000	0.74099	CTC	THBS2	-	NULL		0.428	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	G	NM_003247		169640669	-1	no_errors	ENST00000366787	ensembl	human	known	70_37	missense	SNP	0.955	A
THBS2	7058	genome.wustl.edu	37	6	169648967	169648967	+	Missense_Mutation	SNP	C	C	G	rs148267594	byFrequency	TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:169648967C>G	ENST00000366787.3	-	4	403	c.154G>C	c.(154-156)Gtg>Ctg	p.V52L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	52	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TAAGCCGGCACGCCGGGGTCG	0.577																																					Esophageal Squamous(91;219 1934 18562 44706)												0													101.0	84.0	90.0					6																	169648967		2203	4300	6503	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.154G>C	6.37:g.169648967C>G	ENSP00000355751:p.Val52Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.V52L	ENST00000366787.3	37	c.154	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	C	6.266	0.417233	0.11870	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02032	4.49;4.49	4.42	-0.204	0.13200	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.644575	0.12021	U	0.506979	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	B	0.18741	0.03	B	0.15484	0.013	T	0.45745	-0.9240	10	0.27082	T	0.32	-11.6365	3.3864	0.07273	0.2928:0.3539:0.0:0.3532	.	52	P35442	TSP2_HUMAN	L	52	ENSP00000355751:V52L;ENSP00000398928:V52L	ENSP00000355751:V52L	V	-	1	0	THBS2	169390892	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-1.121000	0.03270	0.083000	0.17047	-0.369000	0.07265	GTG	THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.577	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	C	NM_003247		169648967	-1	no_errors	ENST00000366787	ensembl	human	known	70_37	missense	SNP	0.000	G
TIGD3	220359	genome.wustl.edu	37	11	65124400	65124400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:65124400C>A	ENST00000309880.5	+	2	1328	c.1121C>A	c.(1120-1122)tCg>tAg	p.S374*		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	374						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCCCCGTCCTCGCACAAAACC	0.622																																																	0													56.0	63.0	60.0					11																	65124400		2201	4297	6498	SO:0001587	stop_gained	220359				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1121C>A	11.37:g.65124400C>A	ENSP00000308354:p.Ser374*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S374*	ENST00000309880.5	37	c.1121	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	C	12.06	1.826003	0.32237	.	.	ENSG00000173825	ENST00000309880	.	.	.	3.7	-5.17	0.02849	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-0.7614	3.7332	0.08500	0.2915:0.2286:0.0:0.4799	.	.	.	.	X	374	.	ENSP00000308354:S374X	S	+	2	0	TIGD3	64880976	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.677000	0.05215	-1.328000	0.02261	-0.390000	0.06520	TCG	TIGD3	-	NULL		0.622	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	C	NM_145719		65124400	+1	no_errors	ENST00000309880	ensembl	human	known	70_37	nonsense	SNP	0.000	A
TMEM102	284114	genome.wustl.edu	37	17	7340051	7340051	+	Silent	SNP	G	G	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:7340051G>T	ENST00000323206.1	+	3	1026	c.753G>T	c.(751-753)ccG>ccT	p.P251P	RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Silent_p.P251P|FGF11_ENST00000293829.4_5'Flank|FGF11_ENST00000575235.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	251					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCCAAAGCCGTCGGAGGCTC	0.612																																																	0													77.0	81.0	80.0					17																	7340051		2203	4300	6503	SO:0001819	synonymous_variant	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.753G>T	17.37:g.7340051G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTP8	Silent	SNP	NULL	p.P251	ENST00000323206.1	37	c.753	CCDS11104.1	17																																																																																			TMEM102	-	NULL		0.612	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM102	HGNC	protein_coding	OTTHUMT00000256405.1	G	NM_178518		7340051	+1	no_errors	ENST00000323206	ensembl	human	known	70_37	silent	SNP	0.000	T
TMEM131	23505	genome.wustl.edu	37	2	98388811	98388811	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:98388811C>T	ENST00000186436.5	-	33	4625	c.4397G>A	c.(4396-4398)aGc>aAc	p.S1466N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1466	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGTTTTTTGCTTTTTTGCTT	0.338																																																	0													190.0	171.0	177.0					2																	98388811		1802	4064	5866	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4397G>A	2.37:g.98388811C>T	ENSP00000186436:p.Ser1466Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S1466N	ENST00000186436.5	37	c.4397	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121044	0.37436	.	.	ENSG00000075568	ENST00000186436	T	0.21543	2.0	5.79	4.92	0.64577	.	0.081494	0.85682	D	0.000000	T	0.22205	0.0535	L	0.56769	1.78	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.02610	-1.1134	10	0.37606	T	0.19	-11.0245	11.7693	0.51949	0.0:0.8092:0.1235:0.0673	.	1466	Q92545	TM131_HUMAN	N	1466	ENSP00000186436:S1466N	ENSP00000186436:S1466N	S	-	2	0	TMEM131	97755243	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	1.257000	0.32932	1.471000	0.48121	-0.251000	0.11542	AGC	TMEM131	-	NULL		0.338	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98388811	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM167B	56900	genome.wustl.edu	37	1	109635591	109635591	+	Silent	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:109635591C>G	ENST00000338272.8	+	2	1160	c.90C>G	c.(88-90)ctC>ctG	p.L30L	RP5-1065J22.8_ENST00000608574.1_RNA|TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	30						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TACCTCGTCTCAAAACCTGGC	0.458																																																	0													250.0	261.0	257.0					1																	109635591		2203	4298	6501	SO:0001819	synonymous_variant	56900				CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 119"""	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.90C>G	1.37:g.109635591C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUU9	Silent	SNP	pfam_DUF1242	p.L30	ENST00000338272.8	37	c.90	CCDS30789.1	1																																																																																			TMEM167B	-	pfam_DUF1242		0.458	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM167B	HGNC	protein_coding	OTTHUMT00000100611.2	C	NM_020141		109635591	+1	no_errors	ENST00000338272	ensembl	human	known	70_37	silent	SNP	0.998	G
TNFRSF21	27242	genome.wustl.edu	37	6	47200714	47200714	+	Silent	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:47200714C>A	ENST00000296861.2	-	6	2148	c.1755G>T	c.(1753-1755)gtG>gtT	p.V585V		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	585					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCTGCCGCAACACTGTGTCCT	0.522																																																	0													65.0	64.0	65.0					6																	47200714		2203	4300	6503	SO:0001819	synonymous_variant	27242			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1755G>T	6.37:g.47200714C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDI9|Q0D2P5|Q96D86	Silent	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21	p.V585	ENST00000296861.2	37	c.1755	CCDS4921.1	6																																																																																			TNFRSF21	-	superfamily_DEATH-like		0.522	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	C	NM_014452		47200714	-1	no_errors	ENST00000296861	ensembl	human	known	70_37	silent	SNP	0.995	A
TPR	7175	genome.wustl.edu	37	1	186296624	186296624	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:186296624C>G	ENST00000367478.4	-	40	6153	c.5857G>C	c.(5857-5859)Gag>Cag	p.E1953Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1953				Missing (in Ref. 2; CAA47021). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		tcatcatcctcttcttcatca	0.388			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													125.0	123.0	123.0					1																	186296624		2036	4191	6227	SO:0001583	missense	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5857G>C	1.37:g.186296624C>G	ENSP00000356448:p.Glu1953Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1953Q	ENST00000367478.4	37	c.5857	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547069	0.45383	.	.	ENSG00000047410	ENST00000367478	T	0.26067	1.76	5.26	5.26	0.73747	.	0.485095	0.24472	N	0.038229	T	0.19846	0.0477	N	0.22421	0.69	0.42150	D	0.991557	B	0.20780	0.048	B	0.22386	0.039	T	0.05321	-1.0892	10	0.23891	T	0.37	.	16.6673	0.85256	0.0:1.0:0.0:0.0	.	1953	P12270	TPR_HUMAN	Q	1953	ENSP00000356448:E1953Q	ENSP00000356448:E1953Q	E	-	1	0	TPR	184563247	0.989000	0.36119	0.995000	0.50966	0.998000	0.95712	4.672000	0.61597	2.451000	0.82905	0.650000	0.86243	GAG	TPR	-	NULL		0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	C	NM_003292		186296624	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	missense	SNP	0.995	G
TRERF1	55809	genome.wustl.edu	37	6	42235961	42235961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr6:42235961delG	ENST00000372922.4	-	5	1930	c.1368delC	c.(1366-1368)cccfs	p.P456fs	TRERF1_ENST00000340840.2_Frame_Shift_Del_p.P456fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.P456fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.P456fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.P456fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	456	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGATCCCACTGGGGGATAGGA	0.607																																																	0													50.0	54.0	53.0					6																	42235961		2203	4300	6503	SO:0001589	frameshift_variant	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1368delC	6.37:g.42235961delG	ENSP00000362013:p.Pro456fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S457fs	ENST00000372922.4	37	c.1368	CCDS4867.1	6																																																																																			TRERF1	-	NULL		0.607	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	G	NM_033502		42235961	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	frame_shift_del	DEL	0.206	-
TRPM5	29850	genome.wustl.edu	37	11	2442305	2442305	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:2442305G>A	ENST00000155858.6	-	3	430	c.422C>T	c.(421-423)tCg>tTg	p.S141L	TRPM5_ENST00000528453.1_Missense_Mutation_p.S141L|TRPM5_ENST00000452833.1_Missense_Mutation_p.S141L|TRPM5_ENST00000533060.1_Missense_Mutation_p.S141L	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCGGCCCAGCGAGGCCATGCC	0.721																																					NSCLC(1;49 61 17205 18850 43201)												0													12.0	12.0	12.0					11																	2442305		2094	4139	6233	SO:0001583	missense	29850			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.422C>T	11.37:g.2442305G>A	ENSP00000155858:p.Ser141Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S141L	ENST00000155858.6	37	c.422	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857581	0.71834	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04	3.97	3.97	0.46021	.	0.094585	0.44688	D	0.000438	T	0.07773	0.0195	L	0.57536	1.79	0.39527	D	0.968619	D;D;P	0.58620	0.983;0.983;0.933	P;P;P	0.47603	0.481;0.481;0.551	T	0.11641	-1.0579	10	0.87932	D	0	-11.4139	13.1225	0.59336	0.0:0.0:1.0:0.0	.	141;141;141	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	L	133;141;141;141;141;141	ENSP00000434383:S133L;ENSP00000155858:S141L;ENSP00000387965:S141L;ENSP00000434121:S141L;ENSP00000436809:S141L	ENSP00000155858:S141L	S	-	2	0	TRPM5	2398881	1.000000	0.71417	0.728000	0.30774	0.084000	0.17831	6.633000	0.74286	1.943000	0.56356	0.491000	0.48974	TCG	TRPM5	-	NULL		0.721	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	G	NM_014555		2442305	-1	no_errors	ENST00000452833	ensembl	human	known	70_37	missense	SNP	0.983	A
TSPAN11	441631	genome.wustl.edu	37	12	31116776	31116776	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:31116776G>A	ENST00000261177.9	+	3	159	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000544427.1_Missense_Mutation_p.V24I|TSPAN11_ENST00000546076.1_Missense_Mutation_p.V34I	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	34						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGGAGCAGCCGTCCTGGCTGT	0.667																																																	0													82.0	72.0	76.0					12																	31116776		2203	4300	6503	SO:0001583	missense	441631				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.100G>A	12.37:g.31116776G>A	ENSP00000261177:p.Val34Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L158|B2RUX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V34I	ENST00000261177.9	37	c.100	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633659	0.47049	.	.	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.78924	-1.22;-1.22;-1.22	3.5	3.5	0.40072	.	0.000000	0.64402	U	0.000004	T	0.69187	0.3083	L	0.47078	1.49	0.49915	D	0.999833	B;B	0.29085	0.162;0.232	B;B	0.31290	0.047;0.127	T	0.63475	-0.6629	10	0.13470	T	0.59	.	12.8516	0.57860	0.0:0.0:1.0:0.0	.	24;34	F5H0F0;A1L157	.;TSN11_HUMAN	I	34;24;34	ENSP00000437403:V34I;ENSP00000439895:V24I;ENSP00000261177:V34I	ENSP00000261177:V34I	V	+	1	0	TSPAN11	31008043	1.000000	0.71417	0.094000	0.20943	0.682000	0.39822	9.049000	0.93837	1.652000	0.50683	0.457000	0.33378	GTC	TSPAN11	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin		0.667	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	G	XM_497334		31116776	+1	no_errors	ENST00000261177	ensembl	human	known	70_37	missense	SNP	0.937	A
TSPEAR	54084	genome.wustl.edu	37	21	45945555	45945555	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr21:45945555C>T	ENST00000323084.4	-	8	1382	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.A371A	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	439					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGTTGGCCACCGCCAGGAAGT	0.612																																																	0													108.0	108.0	108.0					21																	45945555		2203	4300	6503	SO:0001819	synonymous_variant	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1317G>A	21.37:g.45945555C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.A439	ENST00000323084.4	37	c.1317	CCDS13712.1	21																																																																																			TSPEAR	-	pfam_EPTP,pfscan_EAR		0.612	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	C	NM_144991		45945555	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	silent	SNP	0.696	T
TSSC2	650368	genome.wustl.edu	37	11	3426097	3426097	+	RNA	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr11:3426097G>A	ENST00000529482.1	+	0	845									tumor suppressing subtransferable candidate 2 pseudogene																		AAGGGCCTCCGAGGGAGTATT	0.602																																																	0																																												7261					11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3426097G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000529482.1	37	NULL		11																																																																																			TSSC2	-	-		0.602	TSSC2-003	KNOWN	basic	processed_transcript	TSSC2	HGNC	pseudogene	OTTHUMT00000392020.1	G			3426097	+1	no_errors	ENST00000533775	ensembl	human	known	70_37	rna	SNP	1.000	A
TUBGCP2	10844	genome.wustl.edu	37	10	135096699	135096699	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr10:135096699G>A	ENST00000252936.3	-	14	2211	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	TUBGCP2_ENST00000417178.2_Silent_p.G594G|TUBGCP2_ENST00000368563.2_Silent_p.G724G|TUBGCP2_ENST00000543663.1_Silent_p.G752G|TUBGCP2_ENST00000368562.1_Silent_p.G317G			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	724					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTGTGTGGTGGCCAAGGACGT	0.602																																																	0													182.0	152.0	162.0					10																	135096699		2203	4300	6503	SO:0001819	synonymous_variant	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2172C>T	10.37:g.135096699G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.G752	ENST00000252936.3	37	c.2256	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_Spc97_Spc98		0.602	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	G			135096699	-1	no_errors	ENST00000543663	ensembl	human	known	70_37	silent	SNP	1.000	A
TXNRD1	7296	genome.wustl.edu	37	12	104682685	104682685	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr12:104682685C>G	ENST00000378070.4	+	1	190	c.128C>G	c.(127-129)tCc>tGc	p.S43C	TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_5'Flank			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	0					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CTTACACGCTCCGCTCTGCTT	0.657																																					Ovarian(139;555 1836 9186 9946 10884)												0													62.0	66.0	65.0					12																	104682685		1892	4115	6007	SO:0001583	missense	7296				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000378070.4:c.128C>G	12.37:g.104682685C>G	ENSP00000367310:p.Ser43Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.S43C	ENST00000378070.4	37	c.128		12	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845274	0.32606	.	.	ENSG00000198431	ENST00000378070	T	0.69040	-0.37	3.57	-2.37	0.06643	.	.	.	.	.	T	0.55893	0.1949	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.51748	-0.8666	6	0.41790	T	0.15	.	6.166	0.20390	0.3602:0.3567:0.2831:0.0	.	.	.	.	C	43	ENSP00000367310:S43C	ENSP00000367310:S43C	S	+	2	0	TXNRD1	103206815	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.218000	0.17622	-0.411000	0.07530	0.456000	0.33151	TCC	TXNRD1	-	NULL		0.657	TXNRD1-202	KNOWN	basic	protein_coding	TXNRD1	HGNC	protein_coding		C	NM_003330		104682685	+1	no_errors	ENST00000378070	ensembl	human	known	70_37	missense	SNP	0.000	G
UBQLN1	29979	genome.wustl.edu	37	9	86276830	86276830	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr9:86276830G>C	ENST00000376395.4	-	11	2165	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q520E	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	548	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						AGTTGTTGCTGAAATCTGACT	0.368																																					Melanoma(186;1284 2073 12755 14558 18426)												0													136.0	131.0	133.0					9																	86276830		2203	4300	6503	SO:0001583	missense	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.1642C>G	9.37:g.86276830G>C	ENSP00000365576:p.Gln548Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q548E	ENST00000376395.4	37	c.1642	CCDS6663.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.969521|4.969521	0.92855|0.92855	.|.	.|.	ENSG00000135018|ENSG00000135018	ENST00000526134|ENST00000376395;ENST00000257468	T|T;T	0.77358|0.16196	-1.09|2.36;2.36	5.19|5.19	5.19|5.19	0.71726|0.71726	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.35480|0.35480	0.0933|0.0933	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999998|0.999998	.|B;D	.|0.62365	.|0.307;0.991	.|B;D	.|0.78314	.|0.316;0.991	T|T	0.02610|0.02610	-1.1134|-1.1134	7|10	0.87932|0.13853	D|T	0|0.58	.|.	19.1663|19.1663	0.93559|0.93559	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|520;548	.|Q9UMX0-2;Q9UMX0	.|.;UBQL1_HUMAN	L|E	154|548;520	ENSP00000436912:F154L|ENSP00000365576:Q548E;ENSP00000257468:Q520E	ENSP00000436912:F154L|ENSP00000257468:Q520E	F|Q	-|-	3|1	2|0	UBQLN1|UBQLN1	85466650|85466650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.399000|9.399000	0.97285|0.97285	2.596000|2.596000	0.87737|0.87737	0.579000|0.579000	0.79373|0.79373	TTC|CAG	UBQLN1	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.368	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86276830	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	missense	SNP	1.000	C
UGT1A1	54658	genome.wustl.edu	37	2	234669139	234669139	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr2:234669139G>A	ENST00000608383.1	+	1	206	c.206G>A	c.(205-207)aGa>aAa	p.R69K	UGT1A4_ENST00000373409.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.R69K|UGT1A1_ENST00000609767.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.R69K|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	69					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTGTACATCAGAGACGGAGCA	0.502																																																	0													179.0	153.0	162.0					2																	234669139		2203	4300	6503	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.206G>A	2.37:g.234669139G>A	ENSP00000476741:p.Arg69Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R69K	ENST00000608383.1	37	c.206	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	G	0.664	-0.804625	0.02819	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.61274	0.12;0.12	6.07	-1.81	0.07882	.	.	.	.	.	T	0.17492	0.0420	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.30592	-0.9973	9	0.02654	T	1	.	2.8791	0.05641	0.4166:0.3299:0.1551:0.0984	.	69;69	A6NJC3;P22309	.;UD11_HUMAN	K	69	ENSP00000304845:R69K;ENSP00000353593:R69K	ENSP00000304845:R69K	R	+	2	0	UGT1A1	234333878	0.000000	0.05858	0.067000	0.19924	0.322000	0.28314	0.133000	0.15912	-0.125000	0.11703	-0.312000	0.09012	AGA	UGT1A1	-	pfam_UDP_glucos_trans		0.502	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		G			234669139	+1	no_errors	ENST00000305208	ensembl	human	known	70_37	missense	SNP	0.000	A
UPF3B	65109	genome.wustl.edu	37	X	118971800	118971800	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:118971800C>G	ENST00000276201.2	-	10	1291	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.E395Q	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	408	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTGTACTTTCAGCCTTCTTT	0.373																																																	0													189.0	161.0	171.0					X																	118971800		2203	4299	6502	SO:0001583	missense	65109			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1222G>C	X.37:g.118971800C>G	ENSP00000276201:p.Glu408Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.E408Q	ENST00000276201.2	37	c.1222	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366816	0.61513	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.78816	-1.21;-1.21	5.83	4.97	0.65823	.	0.272850	0.46758	D	0.000280	T	0.76069	0.3936	L	0.52364	1.645	0.39176	D	0.962683	P;P	0.40731	0.728;0.608	P;B	0.44359	0.447;0.261	T	0.76575	-0.2909	10	0.41790	T	0.15	.	12.9013	0.58126	0.0:0.921:0.0:0.079	.	395;408	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	Q	408;395	ENSP00000276201:E408Q;ENSP00000245418:E395Q	ENSP00000276201:E408Q	E	-	1	0	UPF3B	118855828	0.998000	0.40836	0.662000	0.29724	0.981000	0.71138	4.142000	0.58044	1.234000	0.43709	0.526000	0.51066	GAA	UPF3B	-	NULL		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	C			118971800	-1	no_errors	ENST00000276201	ensembl	human	known	70_37	missense	SNP	0.959	G
USP24	23358	genome.wustl.edu	37	1	55538465	55538465	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr1:55538465C>G	ENST00000294383.6	-	65	7595	c.7596G>C	c.(7594-7596)caG>caC	p.Q2532H	USP24_ENST00000407756.1_Missense_Mutation_p.Q2372H|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2532					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTACCTTCTTCTGTAGCCACT	0.418																																																	0													52.0	53.0	53.0					1																	55538465		1932	4143	6075	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7596G>C	1.37:g.55538465C>G	ENSP00000294383:p.Gln2532His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.Q2532H	ENST00000294383.6	37	c.7596	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738083	0.30774	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02552	4.25;4.26	5.01	1.19	0.21007	.	0.000000	0.64402	D	0.000001	T	0.04907	0.0132	L	0.48642	1.525	0.51767	D	0.999934	D	0.61080	0.989	P	0.50708	0.648	T	0.49960	-0.8883	10	0.34782	T	0.22	.	9.6488	0.39883	0.0:0.6544:0.0:0.3456	.	2372	B7WPF4	.	H	2532;2372	ENSP00000294383:Q2532H;ENSP00000385700:Q2372H	ENSP00000294383:Q2532H	Q	-	3	2	USP24	55311053	0.852000	0.29690	0.997000	0.53966	0.922000	0.55478	-0.020000	0.12525	0.133000	0.18654	0.655000	0.94253	CAG	USP24	-	NULL		0.418	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	C			55538465	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	missense	SNP	1.000	G
USP32	84669	genome.wustl.edu	37	17	58303502	58303502	+	Missense_Mutation	SNP	C	C	T	rs376352735		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:58303502C>T	ENST00000300896.4	-	13	1524	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	USP32_ENST00000592339.1_Missense_Mutation_p.E114K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	444	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATTCTATCTTCGACCTGCTCC	0.433																																																	0								C	LYS/GLU	0,4406		0,0,2203	135.0	128.0	130.0		1330	5.3	1.0	17		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP32	NM_032582.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	444/1605	58303502	1,13005	2203	4300	6503	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1330G>A	17.37:g.58303502C>T	ENSP00000300896:p.Glu444Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.E444K	ENST00000300896.4	37	c.1330	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969756	0.53614	0.0	1.16E-4	ENSG00000170832	ENST00000300896	T	0.43688	0.94	5.28	5.28	0.74379	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.278455	0.40222	N	0.001153	T	0.34019	0.0883	L	0.29908	0.895	0.80722	D	1	B	0.23591	0.088	B	0.19946	0.027	T	0.07214	-1.0784	10	0.34782	T	0.22	.	17.0991	0.86644	0.0:1.0:0.0:0.0	.	444	Q8NFA0	UBP32_HUMAN	K	444	ENSP00000300896:E444K	ENSP00000300896:E444K	E	-	1	0	USP32	55658284	0.998000	0.40836	0.977000	0.42913	0.832000	0.47134	3.909000	0.56363	2.464000	0.83262	0.561000	0.74099	GAA	USP32	-	pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	C	NM_032582		58303502	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	0.984	T
USP42	84132	genome.wustl.edu	37	7	6189273	6189273	+	Silent	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr7:6189273G>A	ENST00000306177.5	+	13	1604	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	482					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTTCCATGTCGAGTCCTAACG	0.493																																																	0													131.0	125.0	127.0					7																	6189273		1963	4141	6104	SO:0001819	synonymous_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1446G>A	7.37:g.6189273G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S482	ENST00000306177.5	37	c.1446	CCDS47535.1	7																																																																																			USP42	-	NULL		0.493	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	G	XM_166526		6189273	+1	no_errors	ENST00000306177	ensembl	human	known	70_37	silent	SNP	0.216	A
USP51	158880	genome.wustl.edu	37	X	55515232	55515232	+	Silent	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chrX:55515232C>T	ENST00000500968.3	-	2	223	c.141G>A	c.(139-141)gcG>gcA	p.A47A	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	47					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTCTCGAAGACGCCTTCGTAG	0.667																																																	0													25.0	24.0	24.0					X																	55515232		2202	4300	6502	SO:0001819	synonymous_variant	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.141G>A	X.37:g.55515232C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWJ8	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.A47	ENST00000500968.3	37	c.141	CCDS14370.1	X																																																																																			USP51	-	NULL		0.667	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55515232	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	silent	SNP	0.000	T
UTP3	57050	genome.wustl.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																																	0																																										SO:0001651	inframe_deletion	57050			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI82	In_Frame_Del	DEL	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.E79in_frame_del	ENST00000254803.2	37	c.226_228	CCDS3546.1	4																																																																																			UTP3	-	NULL		0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	GAG	NM_020368		71554622	+1	no_errors	ENST00000254803	ensembl	human	known	70_37	in_frame_del	DEL	0.044:0.001:0.001	-
VSTM2L	128434	genome.wustl.edu	37	20	36572449	36572449	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr20:36572449G>A	ENST00000373461.4	+	4	656	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	VSTM2L_ENST00000373458.3_Missense_Mutation_p.E120K|VSTM2L_ENST00000373459.4_Missense_Mutation_p.R63Q	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	137	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCCCACGGACGAAGGCACCTA	0.647																																																	0													57.0	39.0	45.0					20																	36572449		2203	4300	6503	SO:0001583	missense	128434			AL109964	CCDS13299.1	20q11.23	2013-01-11	2007-08-10	2007-08-10	ENSG00000132821	ENSG00000132821		"""Immunoglobulin superfamily / V-set domain containing"""	16096	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 102"""	C20orf102			Standard	NM_080607		Approved	dJ1118M15.2	uc002xhk.4	Q96N03	OTTHUMG00000032430	ENST00000373461.4:c.409G>A	20.37:g.36572449G>A	ENSP00000362560:p.Glu137Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5V7|Q5JWZ4|Q5JWZ5|Q8ND45|Q9BR37	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E137K	ENST00000373461.4	37	c.409	CCDS13299.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.800878|5.800878	0.96960|0.96960	.|.	.|.	ENSG00000132821|ENSG00000132821	ENST00000373458;ENST00000373461;ENST00000448944|ENST00000373459	T;T;T|.	0.67171|.	1.55;-0.25;1.55|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82618|0.82618	0.5076|0.5076	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.79108|.	0.992|.	D|D	0.83833|0.83833	0.0253|0.0253	10|6	0.54805|0.48119	T|T	0.06|0.1	-25.2071|-25.2071	18.2505|18.2505	0.90000|0.90000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137|.	Q96N03|.	VTM2L_HUMAN|.	K|Q	120;137;120|63	ENSP00000362557:E120K;ENSP00000362560:E137K;ENSP00000406537:E120K|.	ENSP00000362557:E120K|ENSP00000362558:R63Q	E|R	+|+	1|2	0|0	VSTM2L|VSTM2L	36005863|36005863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.727000|9.727000	0.98787|0.98787	2.550000|2.550000	0.86006|0.86006	0.462000|0.462000	0.41574|0.41574	GAA|CGA	VSTM2L	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.647	VSTM2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM2L	HGNC	protein_coding	OTTHUMT00000079133.1	G			36572449	+1	no_errors	ENST00000373461	ensembl	human	known	70_37	missense	SNP	1.000	A
WWP2	11060	genome.wustl.edu	37	16	69971535	69971535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:69971535C>T	ENST00000359154.2	+	21	2424	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q775*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q775*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Nonsense_Mutation_p.Q336*|WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q659*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	775	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAACAGCAAGCAGATCCAGTG	0.612																																																	0													101.0	81.0	87.0					16																	69971535		2198	4300	6498	SO:0001587	stop_gained	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2323C>T	16.37:g.69971535C>T	ENSP00000352069:p.Gln775*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.Q775*	ENST00000359154.2	37	c.2323	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.909358	0.98557	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.56	5.56	0.83823	.	0.055531	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	.	.	.	X	775;775;775;662;659	.	.	Q	+	1	0	WWP2	68529036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.620000	0.88729	0.655000	0.94253	CAG	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.612	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	C	NM_007014		69971535	+1	no_errors	ENST00000356003	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZFP41	286128	genome.wustl.edu	37	8	144332125	144332125	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr8:144332125G>C	ENST00000330701.4	+	2	481	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	ZFP41_ENST00000520584.1_Missense_Mutation_p.E38Q|ZFP41_ENST00000522452.1_Missense_Mutation_p.E38Q	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	38					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAAGCCACCTGAGAGGCCCAC	0.577																																																	0													40.0	47.0	44.0					8																	144332125		2203	4300	6503	SO:0001583	missense	286128				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.112G>C	8.37:g.144332125G>C	ENSP00000327427:p.Glu38Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWJ5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E38Q	ENST00000330701.4	37	c.112	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155336	0.21454	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.06528	3.29;3.29;3.29	3.09	-6.1	0.02138	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43261	-0.9402	9	0.44086	T	0.13	-3.969	3.6406	0.08165	0.2194:0.128:0.5372:0.1154	.	38	Q8N8Y5	ZFP41_HUMAN	Q	38	ENSP00000430465:E38Q;ENSP00000327427:E38Q;ENSP00000428966:E38Q	ENSP00000327427:E38Q	E	+	1	0	ZFP41	144403500	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.348000	0.02629	-1.720000	0.01380	-0.229000	0.12294	GAG	ZFP41	-	NULL		0.577	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	HGNC	protein_coding	OTTHUMT00000381114.2	G	NM_173832		144332125	+1	no_errors	ENST00000330701	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF207	7756	genome.wustl.edu	37	17	30696449	30696449	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr17:30696449A>T	ENST00000321233.6	+	10	1406	c.1252A>T	c.(1252-1254)Atg>Ttg	p.M418L	ZNF207_ENST00000394670.4_Missense_Mutation_p.M434L|ZNF207_ENST00000577908.1_Missense_Mutation_p.M434L|ZNF207_ENST00000342555.6_Missense_Mutation_p.M437L|ZNF207_ENST00000341711.6_Missense_Mutation_p.M335L|ZNF207_ENST00000394673.2_Missense_Mutation_p.M403L	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	418					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCAACAAGGAATGAGACCCCC	0.448																																																	0													138.0	145.0	143.0					17																	30696449		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1252A>T	17.37:g.30696449A>T	ENSP00000322777:p.Met418Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.M434L	ENST00000321233.6	37	c.1300	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	A	15.06	2.720871	0.48728	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.47528	0.84;0.85	5.97	5.97	0.96955	.	0.038422	0.85682	D	0.000000	T	0.34454	0.0898	N	0.24115	0.695	0.52501	D	0.999953	B;B;B;B;B	0.32245	0.361;0.361;0.361;0.201;0.361	B;B;B;B;B	0.31946	0.138;0.138;0.138;0.044;0.138	T	0.15235	-1.0444	10	0.12103	T	0.63	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	387;437;434;403;418	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	L	434;387;437;403;335;418	ENSP00000378165:M434L;ENSP00000344913:M335L	ENSP00000322777:M403L	M	+	1	0	ZNF207	27720562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.285000	0.76669	0.477000	0.44152	ATG	ZNF207	-	NULL		0.448	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	A			30696449	+1	no_errors	ENST00000394670	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF582	147948	genome.wustl.edu	37	19	56895986	56895986	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:56895986C>A	ENST00000301310.4	-	5	958	c.800G>T	c.(799-801)aGc>aTc	p.S267I	ZNF582_ENST00000586929.1_Missense_Mutation_p.S267I|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAACTGTGAGCTTCGACTAAA	0.413																																					Ovarian(183;1887 2032 4349 30507 51343)												0													69.0	59.0	62.0					19																	56895986		2203	4300	6503	SO:0001583	missense	147948			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.800G>T	19.37:g.56895986C>A	ENSP00000301310:p.Ser267Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S267I	ENST00000301310.4	37	c.800	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996564	0.19043	.	.	ENSG00000018869	ENST00000301310	T	0.07800	3.16	5.18	-6.8	0.01709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000718	T	0.12689	0.0308	M	0.69248	2.105	0.09310	N	1	B;D	0.76494	0.046;0.999	B;P	0.60173	0.01;0.87	T	0.02411	-1.1163	10	0.20046	T	0.44	.	6.8117	0.23809	0.6054:0.1456:0.0:0.249	.	267;298	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	267	ENSP00000301310:S267I	ENSP00000301310:S267I	S	-	2	0	ZNF582	61587798	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.735000	0.00101	-1.299000	0.02344	-0.181000	0.13052	AGC	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	C	NM_144690		56895986	-1	no_errors	ENST00000301310	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF597	146434	genome.wustl.edu	37	16	3490834	3490834	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr16:3490834C>G	ENST00000301744.4	-	3	368	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	NAA60_ENST00000608722.1_5'Flank|NAA60_ENST00000573580.1_5'Flank|NAA60_ENST00000407558.4_5'Flank|NAA60_ENST00000424546.2_5'Flank	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	45	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCCAAAGACTCTTTTGTACCA	0.463																																																	0													107.0	90.0	96.0					16																	3490834		2197	4300	6497	SO:0001583	missense	146434			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.133G>C	16.37:g.3490834C>G	ENSP00000301744:p.Glu45Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E45Q	ENST00000301744.4	37	c.133	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403914	0.25291	.	.	ENSG00000167981	ENST00000301744	T	0.04317	3.65	4.07	3.12	0.35913	Krueppel-associated box (3);	0.418161	0.17752	N	0.163194	T	0.14614	0.0353	M	0.90814	3.15	0.09310	N	1	P	0.49307	0.922	P	0.49252	0.604	T	0.08452	-1.0721	10	0.87932	D	0	-5.0167	7.5987	0.28063	0.0:0.8832:0.0:0.1168	.	45	Q96LX8	ZN597_HUMAN	Q	45	ENSP00000301744:E45Q	ENSP00000301744:E45Q	E	-	1	0	ZNF597	3430835	0.067000	0.21026	0.031000	0.17742	0.023000	0.10783	2.230000	0.42999	1.058000	0.40530	0.563000	0.77884	GAG	ZNF597	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box		0.463	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	C	NM_152457		3490834	-1	no_errors	ENST00000301744	ensembl	human	known	70_37	missense	SNP	0.021	G
ZNF653	115950	genome.wustl.edu	37	19	11597904	11597904	+	Missense_Mutation	SNP	G	G	A	rs199756281		TCGA-C5-A7CL-01A-11D-A32I-09	TCGA-C5-A7CL-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f762575-e13b-4901-afd9-c1eb92ff718f	ed9e7b75-2998-4c55-8fc3-7c2ade72eb95	g.chr19:11597904G>A	ENST00000293771.5	-	5	1377	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CTCAGGCACCGTTGTTGCCAG	0.612																																					Pancreas(83;980 1446 4542 6441 43352)												0													67.0	74.0	71.0					19																	11597904		2203	4300	6503	SO:0001583	missense	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1241C>T	19.37:g.11597904G>A	ENSP00000293771:p.Thr414Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T414M	ENST00000293771.5	37	c.1241	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	G	6.734	0.504178	0.12822	.	.	ENSG00000161914	ENST00000293771	T	0.11063	2.81	4.36	3.33	0.38152	.	0.859417	0.10449	N	0.673303	T	0.06872	0.0175	N	0.14661	0.345	0.09310	N	1	P	0.49783	0.928	B	0.39660	0.306	T	0.30679	-0.9970	10	0.40728	T	0.16	-10.7371	9.5583	0.39353	0.1011:0.0:0.8989:0.0	.	414	Q96CK0	ZN653_HUMAN	M	414	ENSP00000293771:T414M	ENSP00000293771:T414M	T	-	2	0	ZNF653	11458904	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	1.058000	0.30504	0.972000	0.38314	0.561000	0.74099	ACG	ZNF653	-	NULL		0.612	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2	G	NM_138783		11597904	-1	no_errors	ENST00000293771	ensembl	human	known	70_37	missense	SNP	0.029	A
