#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
A2M	2	genome.wustl.edu	37	12	9262517	9262517	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:9262517C>G	ENST00000318602.7	-	6	926	c.619G>C	c.(619-621)Gta>Cta	p.V207L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	207					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCTTCTGTACCACCACCTTG	0.458																																																	0													128.0	140.0	136.0					12																	9262517		2189	4296	6485	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.619G>C	12.37:g.9262517C>G	ENSP00000323929:p.Val207Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.V207L	ENST00000318602.7	37	c.619	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516978	0.44763	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.73681	-0.77	5.41	4.51	0.55191	Alpha-2-macroglobulin, N-terminal (1);	0.425749	0.23933	N	0.043132	T	0.71074	0.3297	M	0.73598	2.24	0.31033	N	0.717184	B	0.29886	0.26	B	0.27076	0.076	T	0.72253	-0.4347	10	0.46703	T	0.11	.	9.2365	0.37470	0.0:0.8989:0.0:0.1011	.	207	P01023	A2MG_HUMAN	L	207;222	ENSP00000323929:V207L	ENSP00000323929:V207L	V	-	1	0	A2M	9153784	0.975000	0.34042	0.994000	0.49952	0.877000	0.50540	1.458000	0.35223	1.250000	0.43966	0.561000	0.74099	GTA	A2M	-	pfam_A2M_N		0.458	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	C	NM_000014		9262517	-1	no_errors	ENST00000318602	ensembl	human	known	70_37	missense	SNP	1.000	G
A4GNT	51146	genome.wustl.edu	37	3	137843671	137843671	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:137843671G>A	ENST00000236709.3	-	3	659	c.458C>T	c.(457-459)tCc>tTc	p.S153F		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	153					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGCCAGGCGGGATGCATCCGA	0.577																																																	0													78.0	74.0	75.0					3																	137843671		2203	4300	6503	SO:0001583	missense	51146			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.458C>T	3.37:g.137843671G>A	ENSP00000236709:p.Ser153Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.S153F	ENST00000236709.3	37	c.458	CCDS3097.1	3	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811967	0.32053	.	.	ENSG00000118017	ENST00000236709	T	0.79454	-1.27	5.27	2.19	0.27852	Glycosyltransferase, DXD sugar-binding motif (1);	0.862410	0.10104	N	0.715620	T	0.81635	0.4864	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	P	0.57960	0.83	T	0.68864	-0.5296	10	0.27785	T	0.31	0.0894	12.059	0.53552	0.0802:0.5323:0.3875:0.0	.	153	Q9UNA3	A4GCT_HUMAN	F	153	ENSP00000236709:S153F	ENSP00000236709:S153F	S	-	2	0	A4GNT	139326361	0.160000	0.22878	0.318000	0.25279	0.339000	0.28857	0.382000	0.20635	0.573000	0.29400	0.563000	0.77884	TCC	A4GNT	-	pfam_GlycoTrfase_DXD_sugar-bd_CS		0.577	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A4GNT	HGNC	protein_coding	OTTHUMT00000357557.1	G	NM_016161		137843671	-1	no_errors	ENST00000236709	ensembl	human	known	70_37	missense	SNP	0.066	A
ACTA1	58	genome.wustl.edu	37	1	229568794	229568794	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:229568794G>A	ENST00000366684.3	-	2	171	c.69C>T	c.(67-69)ttC>ttT	p.F23F	ACTA1_ENST00000366683.2_Silent_p.F23F	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	23					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.F23F(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CATCCCCGGCGAAGCCGGCTT	0.682																																																	1	Substitution - coding silent(1)	lung(1)											46.0	49.0	48.0					1																	229568794		2203	4300	6503	SO:0001819	synonymous_variant	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.69C>T	1.37:g.229568794G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.F23	ENST00000366684.3	37	c.69	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	G	NM_001100		229568794	-1	no_errors	ENST00000366684	ensembl	human	known	70_37	silent	SNP	0.952	A
ALKBH5	54890	genome.wustl.edu	37	17	18110256	18110256	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:18110256C>T	ENST00000399138.4	+	3	984	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	327					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|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)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GCGGTCCCACCGCAAGGCAGA	0.582																																					Ovarian(166;154 1953 40235 46283 46309)												0													146.0	151.0	149.0					17																	18110256		1938	4130	6068	SO:0001583	missense	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.979C>T	17.37:g.18110256C>T	ENSP00000382091:p.Arg327Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	NULL	p.R327C	ENST00000399138.4	37	c.979	CCDS42272.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049615	0.93740	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	P	0.60886	0.88	T	0.68640	-0.5355	9	0.87932	D	0	-20.6427	19.5182	0.95174	0.0:1.0:0.0:0.0	.	327	Q6P6C2-2	.	C	327;316;327	.	ENSP00000261650:R327C	R	+	1	0	ALKBH5	18050981	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.521000	0.73778	2.618000	0.88619	0.655000	0.94253	CGC	ALKBH5	-	NULL		0.582	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	C	NM_017758		18110256	+1	no_errors	ENST00000399138	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD34A	284615	genome.wustl.edu	37	1	145474435	145474435	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:145474435G>A	ENST00000323397.4	+	4	2400	c.1107G>A	c.(1105-1107)ttG>ttA	p.L369L	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	369	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTCCCCGTTGACCCTCCCTC	0.697																																																	0													21.0	23.0	22.0					1																	145474435		2203	4297	6500	SO:0001819	synonymous_variant	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1107G>A	1.37:g.145474435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSU3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L369	ENST00000323397.4	37	c.1107	CCDS30829.1	1																																																																																			ANKRD34A	-	NULL		0.697	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	G			145474435	+1	no_errors	ENST00000323397	ensembl	human	known	70_37	silent	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21231002	21231002	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:21231002A>C	ENST00000233242.1	-	26	8865	c.8738T>G	c.(8737-8739)cTg>cGg	p.L2913R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2913					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTTCAACAGTGTCTTGAT	0.468																																																	0													177.0	170.0	172.0					2																	21231002		2203	4299	6502	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8738T>G	2.37:g.21231002A>C	ENSP00000233242:p.Leu2913Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L2913R	ENST00000233242.1	37	c.8738	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	3.107	-0.183423	0.06340	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00737	5.76	5.74	4.56	0.56223	.	0.184464	0.26688	N	0.023018	T	0.00936	0.0031	L	0.59912	1.85	0.18873	N	0.999981	B	0.15473	0.013	B	0.14023	0.01	T	0.48139	-0.9061	10	0.06625	T	0.88	.	8.5376	0.33373	0.7361:0.1349:0.0:0.129	.	2913	P04114	APOB_HUMAN	R	2913	ENSP00000233242:L2913R	ENSP00000233242:L2913R	L	-	2	0	APOB	21084507	0.000000	0.05858	0.462000	0.27118	0.049000	0.14656	0.621000	0.24418	0.971000	0.38288	0.459000	0.35465	CTG	APOB	-	NULL		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	A			21231002	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.000	C
ANKRD36	375248	genome.wustl.edu	37	2	97860487	97860487	+	Missense_Mutation	SNP	T	T	C	rs59466168	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:97860487T>C	ENST00000461153.2	+	39	2718	c.2474T>C	c.(2473-2475)tTg>tCg	p.L825S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.L825S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	825								p.L825S(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAACCAGCCTTGAAGGTAATG	0.338																																																	1	Substitution - Missense(1)	stomach(1)																																								SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2474T>C	2.37:g.97860487T>C	ENSP00000419530:p.Leu825Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L825S	ENST00000461153.2	37	c.2474	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	6.237	0.411823	0.11812	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	D;D	0.82255	-1.59;-1.59	0.649	-1.05	0.10036	.	.	.	.	.	T	0.66446	0.2790	L	0.34521	1.04	0.58432	P	1.0000000000287557E-6	B	0.31893	0.345	B	0.18871	0.023	T	0.56032	-0.8046	7	0.25751	T	0.34	.	.	.	.	rs59466168;rs62154812	825	A6QL64	AN36A_HUMAN	S	825;825;187	ENSP00000419530:L825S;ENSP00000391950:L825S	ENSP00000391950:L825S	L	+	2	0	ANKRD36	97224214	0.001000	0.12720	0.048000	0.18961	0.004000	0.04260	-0.718000	0.04980	-0.323000	0.08602	-1.634000	0.00779	TTG	ANKRD36	-	NULL		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	T			97860487	+1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.064	C
ASPM	259266	genome.wustl.edu	37	1	197069809	197069809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:197069809G>A	ENST00000367409.4	-	18	8828	c.8572C>T	c.(8572-8574)Cag>Tag	p.Q2858*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2858					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTCTGCTGAACAAATCTT	0.383																																																	0													49.0	51.0	50.0					1																	197069809		2202	4296	6498	SO:0001587	stop_gained	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8572C>T	1.37:g.197069809G>A	ENSP00000356379:p.Gln2858*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.Q2858*	ENST00000367409.4	37	c.8572	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.761394	0.99761	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	.	.	.	4.76	1.39	0.22231	.	1.188110	0.05866	N	0.623876	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	3.5042	0.07684	0.0871:0.1432:0.4785:0.2912	.	.	.	.	X	2858;844	.	ENSP00000356376:Q844X	Q	-	1	0	ASPM	195336432	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.280000	0.18790	0.456000	0.26937	0.563000	0.77884	CAG	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS		0.383	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197069809	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	nonsense	SNP	0.000	A
BAHCC1	57597	genome.wustl.edu	37	17	79409609	79409609	+	Missense_Mutation	SNP	G	G	A	rs374297742		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:79409609G>A	ENST00000307745.7	+	9	1234	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K																								CCAGGCCGCCGAGGCCTGTGC	0.692																																																	0									LYS/GLU	0,3846		0,0,1923	13.0	16.0	15.0		1063	3.0	1.0	17		15	1,8137		0,1,4068	no	missense	BAHCC1	NM_001080519.2	56	0,1,5991	AA,AG,GG		0.0123,0.0,0.0083	possibly-damaging	355/2552	79409609	1,11983	1923	4069	5992	SO:0001583	missense	57597																														ENST00000307745.7:c.1234G>A	17.37:g.79409609G>A	ENSP00000303486:p.Glu412Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E412K	ENST00000307745.7	37	c.1234		17	.	.	.	.	.	.	.	.	.	.	g	15.30	2.792774	0.50102	0.0	1.23E-4	ENSG00000171282	ENST00000307745	T	0.12984	2.63	4.01	2.98	0.34508	.	.	.	.	.	T	0.10165	0.0249	L	0.29908	0.895	0.27233	N	0.959343	P	0.39404	0.672	B	0.30943	0.122	T	0.15235	-1.0444	9	0.62326	D	0.03	.	13.7118	0.62672	0.0:0.1707:0.8293:0.0	.	412	Q9P281	BAHC1_HUMAN	K	412	ENSP00000303486:E412K	ENSP00000303486:E412K	E	+	1	0	AC110285.1	77024204	0.999000	0.42202	0.974000	0.42286	0.105000	0.19272	1.832000	0.39151	2.101000	0.63845	0.282000	0.19409	GAG	BAHCC1	-	NULL		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		G			79409609	+1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.962	A
BNIP3P1	319138	genome.wustl.edu	37	14	28733828	28733828	+	RNA	SNP	T	T	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr14:28733828T>C	ENST00000550043.1	+	0	233									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		AATTGCACTTTAGCAATAATG	0.562																																																	0																																												319138					14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733828T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000550043.1	37	NULL		14																																																																																			BNIP3P1	-	-		0.562	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	T			28733828	+1	no_errors	ENST00000550043	ensembl	human	known	70_37	rna	SNP	0.147	C
BRD1	23774	genome.wustl.edu	37	22	50217002	50217002	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:50217002G>A	ENST00000216267.8	-	1	1450	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	BRD1_ENST00000404760.1_Missense_Mutation_p.R322W|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.R322W|BRD1_ENST00000457780.2_Missense_Mutation_p.R322W	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	322					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTTTCCACCGGGCTGGAGGG	0.582																																																	0													135.0	120.0	125.0					22																	50217002		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.964C>T	22.37:g.50217002G>A	ENSP00000216267:p.Arg322Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.R322W	ENST00000216267.8	37	c.964	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503764	0.64298	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.27	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	H	0.99312	4.51	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	0.76887	-0.2793	9	.	.	.	.	13.0582	0.58992	0.0:0.0:0.5834:0.4166	.	322;322;322	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	W	322	ENSP00000216267:R322W;ENSP00000384076:R322W;ENSP00000385858:R322W;ENSP00000410042:R322W	.	R	-	1	2	BRD1	48603006	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.615000	0.46368	1.194000	0.43101	0.514000	0.50259	CGG	BRD1	-	superfamily_Znf_FYVE_PHD		0.582	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	G	NM_014577		50217002	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	A
C11orf65	160140	genome.wustl.edu	37	11	108277614	108277614	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:108277614C>T	ENST00000529391.1	-	4	314	c.305G>A	c.(304-306)aGa>aAa	p.R102K	C11orf65_ENST00000526725.1_5'Flank|C11orf65_ENST00000393084.1_Missense_Mutation_p.R102K|C11orf65_ENST00000525729.1_Missense_Mutation_p.R53K			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	102										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TGCATAATTTCTAGGGCTGTT	0.343																																																	0													97.0	99.0	99.0					11																	108277614		2201	4298	6499	SO:0001583	missense	160140			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.305G>A	11.37:g.108277614C>T	ENSP00000436400:p.Arg102Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZU4|Q6PCA8	Missense_Mutation	SNP	NULL	p.R102K	ENST00000529391.1	37	c.305	CCDS8340.1	11	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638282	0.47153	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	.	.	.	5.4	4.5	0.54988	.	0.114908	0.56097	N	0.000024	T	0.27205	0.0667	L	0.35644	1.08	0.27678	N	0.946532	B;B	0.31705	0.154;0.336	B;B	0.26969	0.048;0.075	T	0.13124	-1.0521	9	0.19590	T	0.45	-28.0172	7.6469	0.28325	0.0:0.7505:0.0:0.2495	.	53;102	B4DZU4;Q8NCR3	.;CK065_HUMAN	K	53;102;102;84	.	ENSP00000376799:R102K	R	-	2	0	C11orf65	107782824	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.758000	0.38410	1.414000	0.47017	0.650000	0.86243	AGA	C11orf65	-	NULL		0.343	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	HGNC	protein_coding	OTTHUMT00000390010.3	C	NM_152587		108277614	-1	no_errors	ENST00000393084	ensembl	human	known	70_37	missense	SNP	1.000	T
C1S	716	genome.wustl.edu	37	12	7170342	7170342	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:7170342C>T	ENST00000406697.1	+	7	990	c.362C>T	c.(361-363)aCg>aTg	p.T121M	C1S_ENST00000360817.5_Missense_Mutation_p.T121M|C1S_ENST00000328916.3_Missense_Mutation_p.T121M|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	121	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGCGTTTTACGGGGTTTGCT	0.438																																					GBM(156;750 1943 12971 24779 31015)												0													125.0	116.0	119.0					12																	7170342		2203	4300	6503	SO:0001583	missense	716				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.362C>T	12.37:g.7170342C>T	ENSP00000385035:p.Thr121Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T121M	ENST00000406697.1	37	c.362	CCDS31735.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742805	0.89573	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000403949	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.04	6.04	0.98038	CUB (5);	0.000000	0.43919	D	0.000511	T	0.66005	0.2746	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66941	-0.5796	10	0.72032	D	0.01	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	121	P09871	C1S_HUMAN	M	121;121;121;103;121	ENSP00000385035:T121M;ENSP00000328173:T121M;ENSP00000354057:T121M;ENSP00000384464:T121M	ENSP00000328173:T121M	T	+	2	0	C1S	7040603	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	5.941000	0.70195	2.873000	0.98535	0.561000	0.74099	ACG	C1S	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.438	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1	C	NM_001734		7170342	+1	no_errors	ENST00000328916	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNG7	59284	genome.wustl.edu	37	19	54418743	54418743	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:54418743C>G	ENST00000391767.1	+	4	620	c.408C>G	c.(406-408)atC>atG	p.I136M	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.I136M|CACNG7_ENST00000222212.2_Missense_Mutation_p.I136M			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	136					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	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;0.0711)		TCTCTGGCATCTTCTTCATAC	0.557																																																	0													112.0	101.0	105.0					19																	54418743		2203	4300	6503	SO:0001583	missense	59284			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.408C>G	19.37:g.54418743C>G	ENSP00000375647:p.Ile136Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.I136M	ENST00000391767.1	37	c.408	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265470	0.59431	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.92397	-3.03;-3.03;-3.03	3.91	3.91	0.45181	.	0.110577	0.64402	D	0.000015	D	0.94876	0.8344	M	0.80332	2.49	0.58432	D	0.999993	D	0.52996	0.957	P	0.59221	0.854	D	0.94630	0.7821	10	0.49607	T	0.09	-18.4271	14.2221	0.65833	0.0:1.0:0.0:0.0	.	136	P62955	CCG7_HUMAN	M	136	ENSP00000375647:I136M;ENSP00000222212:I136M;ENSP00000375646:I136M	ENSP00000222212:I136M	I	+	3	3	CACNG7	59110555	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.331000	0.43894	2.469000	0.83416	0.563000	0.77884	ATC	CACNG7	-	pfam_PMP22/EMP/MP20/Claudin		0.557	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	C			54418743	+1	no_errors	ENST00000222212	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC60	160777	genome.wustl.edu	37	12	119954432	119954432	+	Silent	SNP	G	G	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:119954432G>T	ENST00000327554.2	+	8	1353	c.888G>T	c.(886-888)ctG>ctT	p.L296L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	296										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CATCAGATCTGCAGAAGCTCC	0.532																																																	0													83.0	83.0	83.0					12																	119954432		2203	4300	6503	SO:0001819	synonymous_variant	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.888G>T	12.37:g.119954432G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L296	ENST00000327554.2	37	c.888	CCDS9190.1	12																																																																																			CCDC60	-	NULL		0.532	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	G	NM_178499		119954432	+1	no_errors	ENST00000327554	ensembl	human	known	70_37	silent	SNP	1.000	T
CDK13	8621	genome.wustl.edu	37	7	40132633	40132633	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:40132633C>T	ENST00000181839.4	+	13	4090	c.3485C>T	c.(3484-3486)tCt>tTt	p.S1162F	CDK13_ENST00000340829.5_Missense_Mutation_p.S1102F	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1162					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATTCAGCCTTCTTCTCAGACC	0.483																																																	0													163.0	165.0	164.0					7																	40132633		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3485C>T	7.37:g.40132633C>T	ENSP00000181839:p.Ser1162Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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.S1162F	ENST00000181839.4	37	c.3485	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410014	0.62399	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70986	-0.53;-0.47	5.46	4.59	0.56863	.	.	.	.	.	T	0.69691	0.3139	L	0.40543	1.245	0.34411	D	0.696356	D;D	0.56968	0.972;0.978	P;P	0.51615	0.498;0.675	T	0.76512	-0.2932	8	.	.	.	-0.1292	12.8495	0.57850	0.0:0.9252:0.0:0.0748	.	1102;1162	Q14004-2;Q14004	.;CDK13_HUMAN	F	1162;1102	ENSP00000181839:S1162F;ENSP00000340557:S1102F	.	S	+	2	0	CDK13	40099158	0.998000	0.40836	0.959000	0.39883	0.632000	0.37999	3.458000	0.53014	1.542000	0.49330	-0.150000	0.13652	TCT	CDK13	-	NULL		0.483	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40132633	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	missense	SNP	0.955	T
CENPB	1059	genome.wustl.edu	37	20	3766324	3766324	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:3766324G>A	ENST00000379751.4	-	1	1013	c.807C>T	c.(805-807)gtC>gtT	p.V269V	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	269					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCTGGGTGGTGACACCACCCT	0.692																																																	0													24.0	24.0	24.0					20																	3766324		2197	4293	6490	SO:0001819	synonymous_variant	1059			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.807C>T	20.37:g.3766324G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96EI4	Silent	SNP	pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.V269	ENST00000379751.4	37	c.807	CCDS13064.1	20																																																																																			CENPB	-	pfam_DDE_SF_endonuclease_CENPB-like		0.692	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPB	HGNC	protein_coding	OTTHUMT00000077772.2	G	NM_001810		3766324	-1	no_errors	ENST00000379751	ensembl	human	known	70_37	silent	SNP	1.000	A
CES5A	221223	genome.wustl.edu	37	16	55883536	55883536	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr16:55883536C>T	ENST00000290567.9	-	11	1544	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	CES5A_ENST00000319165.9_Intron|CES5A_ENST00000521992.1_Splice_Site_p.E504K|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Splice_Site_p.E445K|CES5A_ENST00000518005.1_Splice_Site_p.E369K	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	475						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AGTCCCTTACCGAACATAACA	0.532																																																	0													173.0	151.0	158.0					16																	55883536		1568	3582	5150	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1423+1G>A	16.37:g.55883536C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.E504K	ENST00000290567.9	37	c.1510	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	.	20.4	3.976774	0.74360	.	.	ENSG00000159398	ENST00000521992;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.36	4.36	0.52297	Carboxylesterase, type B (1);	.	.	.	.	T	0.17534	0.0421	L	0.57536	1.79	0.34957	D	0.751823	D	0.67145	0.996	P	0.58391	0.838	T	0.03259	-1.1055	8	.	.	.	.	8.4256	0.32727	0.0:0.897:0.0:0.103	.	475	Q6NT32	EST5A_HUMAN	K	504;369;475;445;255	ENSP00000428864:E504K;ENSP00000428571:E369K;ENSP00000290567:E475K;ENSP00000428887:E445K	.	E	-	1	0	CES5A	54441037	0.985000	0.35326	0.999000	0.59377	0.906000	0.53458	2.668000	0.46816	2.698000	0.92095	0.655000	0.94253	GAA	CES5A	-	pfam_CarbesteraseB		0.532	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	C	NM_145024	Missense_Mutation	55883536	-1	no_errors	ENST00000521992	ensembl	human	known	70_37	missense	SNP	0.998	T
CIC	23152	genome.wustl.edu	37	19	42793213	42793213	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:42793213G>C	ENST00000575354.2	+	7	1145	c.1105G>C	c.(1105-1107)Gac>Cac	p.D369H	CIC_ENST00000160740.3_Missense_Mutation_p.D369H|CIC_ENST00000572681.2_Missense_Mutation_p.D1278H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGAGAAGTAGACAGTCAGGC	0.667			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													46.0	50.0	49.0					19																	42793213		2203	4299	6502	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1105G>C	19.37:g.42793213G>C	ENSP00000458663:p.Asp369His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D369H	ENST00000575354.2	37	c.1105	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419439	0.25552	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.76	3.73	0.42828	.	.	.	.	.	T	0.51466	0.1676	N	0.14661	0.345	0.38486	D	0.947854	D	0.76494	0.999	P	0.61328	0.887	T	0.60840	-0.7183	8	0.87932	D	0	-20.5016	12.2832	0.54776	0.0:0.0:0.8292:0.1708	.	369	Q96RK0	CIC_HUMAN	H	369	.	ENSP00000160740:D369H	D	+	1	0	CIC	47485053	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	6.351000	0.73022	1.242000	0.43836	-0.234000	0.12200	GAC	CIC	-	NULL		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42793213	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	1.000	C
CLIC3	9022	genome.wustl.edu	37	9	139890114	139890114	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:139890114C>T	ENST00000494426.1	-	2	388	c.129G>A	c.(127-129)acG>acA	p.T43T	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	43	GST N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGTGTCCACCGTGGTGAGGG	0.711																																																	0													43.0	39.0	41.0					9																	139890114		2200	4298	6498	SO:0001819	synonymous_variant	9022			AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"""Ion channels / Chloride channels : Intracellular"""	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.129G>A	9.37:g.139890114C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SPZ7	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel	p.T43	ENST00000494426.1	37	c.129	CCDS7021.1	9																																																																																			CLIC3	-	superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel		0.711	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC3	HGNC	protein_coding	OTTHUMT00000055173.2	C	NM_004669		139890114	-1	no_errors	ENST00000494426	ensembl	human	known	70_37	silent	SNP	0.018	T
CP	1356	genome.wustl.edu	37	3	148928011	148928011	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:148928011C>T	ENST00000264613.6	-	3	812	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	184	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTGGAGCATCAATGTGGGAA	0.413																																																	0													220.0	189.0	199.0					3																	148928011		2203	4300	6503	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.550G>A	3.37:g.148928011C>T	ENSP00000264613:p.Asp184Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.D184N	ENST00000264613.6	37	c.550	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627280	0.87560	.	.	ENSG00000047457	ENST00000264613	D	0.98701	-5.08	5.8	5.8	0.92144	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.045214	0.85682	D	0.000000	D	0.98270	0.9427	L	0.45137	1.4	0.47037	D	0.999299	P;P	0.52692	0.955;0.955	P;P	0.56042	0.79;0.691	D	0.97978	1.0347	10	0.32370	T	0.25	-29.0439	20.0465	0.97608	0.0:1.0:0.0:0.0	.	184;184	A8K5A4;P00450	.;CERU_HUMAN	N	184	ENSP00000264613:D184N	ENSP00000264613:D184N	D	-	1	0	CP	150410701	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	3.451000	0.52964	2.735000	0.93741	0.557000	0.71058	GAT	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.413	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	C	NM_000096		148928011	-1	no_errors	ENST00000264613	ensembl	human	known	70_37	missense	SNP	0.998	T
CX3CL1	6376	genome.wustl.edu	37	16	57416399	57416399	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr16:57416399G>A	ENST00000006053.6	+	3	760	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CX3CL1_ENST00000565912.1_Missense_Mutation_p.E179K|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E223K	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	217	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAAGACCTCTGAGGCCCCGTC	0.672																																																	0													39.0	41.0	40.0					16																	57416399		2198	4300	6498	SO:0001583	missense	6376			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.649G>A	16.37:g.57416399G>A	ENSP00000006053:p.Glu217Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_fractalkine_CX3CL1	p.E217K	ENST00000006053.6	37	c.649	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502807	0.44558	.	.	ENSG00000006210	ENST00000006053	T	0.05996	3.36	5.24	1.96	0.26148	.	42.502000	0.00166	N	0.000001	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	P	0.38148	0.62	B	0.32533	0.147	T	0.40683	-0.9550	10	0.87932	D	0	-22.4824	8.8397	0.35135	0.0912:0.1887:0.7201:0.0	.	217	P78423	X3CL1_HUMAN	K	217	ENSP00000006053:E217K	ENSP00000006053:E217K	E	+	1	0	CX3CL1	55973900	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.122000	0.15687	0.134000	0.18681	0.603000	0.83216	GAG	CX3CL1	-	prints_Chemokine_fractalkine_CX3CL1		0.672	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	G	NM_002996		57416399	+1	no_errors	ENST00000006053	ensembl	human	known	70_37	missense	SNP	0.000	A
DOCK1	1793	genome.wustl.edu	37	10	128795093	128795093	+	Silent	SNP	C	C	T	rs554024311	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:128795093C>T	ENST00000280333.6	+	7	664	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	185					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTAGTCTCTTCAGAGCTCATG	0.358													C|||	2	0.000399361	0.0	0.0	5008	,	,		20589	0.0		0.0	False		,,,				2504	0.002																0													197.0	188.0	191.0					10																	128795093		1847	4098	5945	SO:0001819	synonymous_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.555C>T	10.37:g.128795093C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.F185	ENST00000280333.6	37	c.555		10																																																																																			DOCK1	-	NULL		0.358	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		128795093	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	silent	SNP	1.000	T
DSE	29940	genome.wustl.edu	37	6	116757460	116757460	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:116757460G>A	ENST00000331677.3	+	7	2273	c.1829G>A	c.(1828-1830)aGa>aAa	p.R610K	DSE_ENST00000537543.1_Missense_Mutation_p.R629K|DSE_ENST00000359564.2_Missense_Mutation_p.R610K|DSE_ENST00000452085.3_Missense_Mutation_p.R610K			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	610					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCAGGCAGAGAGATGGTCTC	0.498																																																	0													121.0	108.0	112.0					6																	116757460		2203	4300	6503	SO:0001583	missense	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1829G>A	6.37:g.116757460G>A	ENSP00000332151:p.Arg610Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.R629K	ENST00000331677.3	37	c.1886	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	1.778	-0.482639	0.04383	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	6.01	4.24	0.50183	.	0.189794	0.47852	D	0.000210	T	0.29491	0.0735	L	0.51422	1.61	0.35420	D	0.793166	B;B	0.15473	0.013;0.013	B;B	0.19391	0.025;0.025	T	0.18618	-1.0331	10	0.02654	T	1	-6.1905	10.8737	0.46899	0.2007:0.0:0.7993:0.0	.	629;610	B7Z765;Q9UL01	.;DSE_HUMAN	K	610;629;610;610	ENSP00000404049:R610K;ENSP00000441152:R629K;ENSP00000332151:R610K;ENSP00000352567:R610K	ENSP00000332151:R610K	R	+	2	0	DSE	116864153	1.000000	0.71417	0.985000	0.45067	0.946000	0.59487	4.114000	0.57858	0.889000	0.36185	0.650000	0.86243	AGA	DSE	-	NULL		0.498	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	G	NM_013352		116757460	+1	no_errors	ENST00000537543	ensembl	human	known	70_37	missense	SNP	0.747	A
DSG4	147409	genome.wustl.edu	37	18	28991196	28991196	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr18:28991196A>T	ENST00000308128.4	+	15	2275	c.2140A>T	c.(2140-2142)Atc>Ttc	p.I714F	DSG4_ENST00000359747.4_Missense_Mutation_p.I733F|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	714					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTTTCAGAAATCTACACCAA	0.612																																																	0													84.0	79.0	81.0					18																	28991196		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2140A>T	18.37:g.28991196A>T	ENSP00000311859:p.Ile714Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I733F	ENST00000308128.4	37	c.2197	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383976	0.82792	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.56941	0.43;0.43	5.96	5.96	0.96718	.	0.000000	0.35466	N	0.003192	T	0.62466	0.2430	L	0.44542	1.39	0.48040	D	0.999579	D;D	0.65815	0.995;0.964	D;P	0.63113	0.911;0.737	T	0.59257	-0.7488	10	0.33141	T	0.24	.	15.0003	0.71466	1.0:0.0:0.0:0.0	.	733;714	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	F	714;733	ENSP00000311859:I714F;ENSP00000352785:I733F	ENSP00000311859:I714F	I	+	1	0	DSG4	27245194	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.039000	0.57325	2.271000	0.75665	0.528000	0.53228	ATC	DSG4	-	NULL		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	A	NM_177986		28991196	+1	no_errors	ENST00000359747	ensembl	human	known	70_37	missense	SNP	1.000	T
DYM	54808	genome.wustl.edu	37	18	46570541	46570541	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr18:46570541C>G	ENST00000269445.6	-	17	2351	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.E442Q	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	632					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						GGCTGCTCCTCTTCCACATAT	0.423																																																	0													104.0	118.0	113.0					18																	46570541		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.1894G>C	18.37:g.46570541C>G	ENSP00000269445:p.Glu632Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.E632Q	ENST00000269445.6	37	c.1894	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894451	0.91889	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.85088	-1.94;-1.94	5.91	5.91	0.95273	.	0.125910	0.51477	D	0.000099	D	0.93259	0.7852	M	0.83384	2.64	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.81914	0.979;0.995	D	0.93296	0.6672	10	0.72032	D	0.01	-14.0644	19.9089	0.97019	0.0:1.0:0.0:0.0	.	442;632	Q7RTS9-2;Q7RTS9	.;DYM_HUMAN	Q	442;632	ENSP00000395942:E442Q;ENSP00000269445:E632Q	ENSP00000269445:E632Q	E	-	1	0	DYM	44824539	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.635000	0.83286	2.793000	0.96121	0.655000	0.94253	GAG	DYM	-	pfam_Dymeclin		0.423	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	C	NM_017653		46570541	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	1.000	G
E2F3	1871	genome.wustl.edu	37	6	20402643	20402643	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:20402643C>G	ENST00000346618.3	+	1	246	c.180C>G	c.(178-180)atC>atG	p.I60M	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	60					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACATCCAGATCCTCACCACGA	0.731																																																	0													26.0	32.0	30.0					6																	20402643		2193	4281	6474	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.180C>G	6.37:g.20402643C>G	ENSP00000262904:p.Ile60Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.I60M	ENST00000346618.3	37	c.180	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269644	0.23221	.	.	ENSG00000112242	ENST00000346618	T	0.06933	3.24	3.8	1.94	0.25998	.	0.557821	0.17735	N	0.163741	T	0.01189	0.0039	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	T	0.44787	-0.9305	10	0.22109	T	0.4	.	6.4229	0.21754	0.0:0.7087:0.1858:0.1055	.	60	O00716	E2F3_HUMAN	M	60	ENSP00000262904:I60M	ENSP00000262904:I60M	I	+	3	3	E2F3	20510622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.435000	0.52849	0.383000	0.24910	0.543000	0.68304	ATC	E2F3	-	NULL		0.731	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	C			20402643	+1	no_errors	ENST00000346618	ensembl	human	known	70_37	missense	SNP	1.000	G
E2F8	79733	genome.wustl.edu	37	11	19255959	19255959	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:19255959C>G	ENST00000527884.1	-	6	1108	c.876G>C	c.(874-876)aaG>aaC	p.K292N	E2F8_ENST00000250024.4_Missense_Mutation_p.K292N|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	292					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAATTAAAATCTTGGCAGCAA	0.388																																																	0													176.0	180.0	179.0					11																	19255959		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.876G>C	11.37:g.19255959C>G	ENSP00000434199:p.Lys292Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.K292N	ENST00000527884.1	37	c.876	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575059	0.65878	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.24723	1.84;1.84	5.37	3.26	0.37387	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	L	0.54965	1.715	0.58432	D	0.999996	P	0.52463	0.953	D	0.65684	0.937	T	0.20240	-1.0281	10	0.72032	D	0.01	-21.1653	4.2769	0.10813	0.0:0.5335:0.0:0.4665	.	292	A0AVK6	E2F8_HUMAN	N	292	ENSP00000434199:K292N;ENSP00000250024:K292N	ENSP00000250024:K292N	K	-	3	2	E2F8	19212535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.263000	0.51546	1.278000	0.44430	0.655000	0.94253	AAG	E2F8	-	pfam_E2F_TDP		0.388	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	C	NM_024680		19255959	-1	no_errors	ENST00000250024	ensembl	human	known	70_37	missense	SNP	1.000	G
SNX10	29887	genome.wustl.edu	37	7	26412102	26412102	+	Intron	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:26412102C>T	ENST00000338523.4	+	7	711				AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000462993.1_Intron|SNX10_ENST00000409367.1_Intron|SNX10_ENST00000396376.1_Intron|SNX10_ENST00000446848.2_Intron|AC004540.4_ENST00000451368.1_RNA|SNX10_ENST00000409838.1_Intron	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10						cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCCCTCTCTTCTTTTCCAGTT	0.398																																																	0													148.0	157.0	153.0					7																	26412102		2203	4300	6503	SO:0001627	intron_variant	0			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.525-9C>T	7.37:g.26412102C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFH5|Q8IYT5	RNA	SNP	-	NULL	ENST00000338523.4	37	NULL	CCDS5399.1	7																																																																																			AC004540.4	-	-		0.398	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225792	Clone_based_vega_gene	protein_coding	OTTHUMT00000214120.1	C			26412102	-1	no_errors	ENST00000451264	ensembl	human	known	70_37	rna	SNP	1.000	T
SORD	6652	genome.wustl.edu	37	15	45365748	45365748	+	3'UTR	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr15:45365748C>T	ENST00000267814.9	+	0	1274				SORD_ENST00000559562.1_3'UTR|SORD_ENST00000558580.1_3'UTR|RP11-109D20.2_ENST00000560967.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase						fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		GCTCTGCCCTCATCCCCACAG	0.458																																																	0													58.0	72.0	68.0					15																	45365748		2123	4298	6421	SO:0001624	3_prime_UTR_variant	0				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.*20C>T	15.37:g.45365748C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	RNA	SNP	-	NULL	ENST00000267814.9	37	NULL	CCDS10116.1	15																																																																																			RP11-109D20.2	-	-		0.458	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259352	Clone_based_vega_gene	protein_coding	OTTHUMT00000254033.3	C			45365748	-1	no_errors	ENST00000560967	ensembl	human	known	70_37	rna	SNP	0.413	T
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	C			37868208	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	1.000	T
ERBB3	2065	genome.wustl.edu	37	12	56488256	56488256	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:56488256G>A	ENST00000267101.3	+	15	2215	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.G533E|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	592					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCCCCCATGGAGTCCTAGGT	0.537																																																	0													97.0	99.0	98.0					12																	56488256		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1775G>A	12.37:g.56488256G>A	ENSP00000267101:p.Gly592Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G592E	ENST00000267101.3	37	c.1775	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688456	0.88639	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	D;D	0.88896	-2.44;-2.44	5.77	5.77	0.91146	Growth factor, receptor (1);	0.000000	0.64402	D	0.000005	D	0.94248	0.8153	M	0.83118	2.625	0.80722	D	1	D;B	0.89917	1.0;0.328	D;B	0.75484	0.986;0.073	D	0.94463	0.7678	10	0.87932	D	0	.	12.8107	0.57637	0.0785:0.0:0.9215:0.0	.	533;592	P21860-4;P21860	.;ERBB3_HUMAN	E	592;533	ENSP00000267101:G592E;ENSP00000408340:G533E	ENSP00000267101:G592E	G	+	2	0	ERBB3	54774523	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.490000	0.81461	2.737000	0.93849	0.561000	0.74099	GGA	ERBB3	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56488256	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	A
FERD3L	222894	genome.wustl.edu	37	7	19184649	19184649	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:19184649G>A	ENST00000275461.3	-	1	395	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	113	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTGAACATCCGCTTCCTTTCG	0.612																																																	0													96.0	79.0	85.0					7																	19184649		2203	4300	6503	SO:0001583	missense	222894			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.337C>T	7.37:g.19184649G>A	ENSP00000275461:p.Arg113Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495K0	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R113W	ENST00000275461.3	37	c.337	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661616	0.67700	.	.	ENSG00000146618	ENST00000275461	D	0.99722	-6.53	5.66	2.52	0.30459	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96847	0.9622	10	0.87932	D	0	-21.6828	15.4532	0.75294	0.0:0.0:0.5625:0.4375	.	113	Q96RJ6	FER3L_HUMAN	W	113	ENSP00000275461:R113W	ENSP00000275461:R113W	R	-	1	2	FERD3L	19151174	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	1.035000	0.30216	0.729000	0.32403	-0.127000	0.14921	CGG	FERD3L	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	G			19184649	-1	no_errors	ENST00000275461	ensembl	human	known	70_37	missense	SNP	1.000	A
GABRG1	2565	genome.wustl.edu	37	4	46060338	46060339	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr4:46060338_46060339CC>AG	ENST00000295452.4	-	7	978_979	c.811_812GG>CT	c.(811-813)GGa>CTa	p.G271L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	271					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTGAAATATCCCATTCTTCTG	0.337																																																	0																																										SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.811_812delinsAG	4.37:g.46060338_46060339delinsAG	ENSP00000295452:p.Gly271Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G271V|p.G271R	ENST00000295452.4	37	c.812|c.811	CCDS3470.1	4																																																																																			GABRG1	-	superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel,tigrfam_Neur_channel		0.337	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	C	NM_173536		46060338|46060339	-1	no_errors	ENST00000295452	ensembl	human	known	70_37	missense	SNP	1.000	A|G
GPR148	344561	genome.wustl.edu	37	2	131487317	131487317	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:131487317G>A	ENST00000309926.4	+	1	675	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GAGGAGCAAGGAGCTTCATAC	0.582																																																	0													106.0	102.0	103.0					2																	131487317		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.593G>A	2.37:g.131487317G>A	ENSP00000308908:p.Gly198Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G198E	ENST00000309926.4	37	c.593	CCDS2163.1	2	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.343836	0.01277	.	.	ENSG00000173302	ENST00000309926	T	0.37584	1.19	2.87	0.935	0.19483	GPCR, rhodopsin-like superfamily (1);	1.958860	0.03947	U	0.287886	T	0.17916	0.0430	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.27262	0.078	T	0.22730	-1.0208	10	0.02654	T	1	0.0026	5.7454	0.18118	0.4108:0.0:0.5892:0.0	.	198	Q8TDV2	GP148_HUMAN	E	198	ENSP00000308908:G198E	ENSP00000308908:G198E	G	+	2	0	GPR148	131203787	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.010000	0.12743	0.076000	0.16826	0.462000	0.41574	GGA	GPR148	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.582	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR148	HGNC	protein_coding	OTTHUMT00000254552.3	G	XM_293092		131487317	+1	no_errors	ENST00000309926	ensembl	human	known	70_37	missense	SNP	0.000	A
GALNT5	11227	genome.wustl.edu	37	2	158167845	158167845	+	Silent	SNP	A	A	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:158167845A>G	ENST00000259056.4	+	10	3293	c.2808A>G	c.(2806-2808)aaA>aaG	p.K936K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	936					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AATTTGAAAAATATTATGAAG	0.333																																																	0													51.0	57.0	55.0					2																	158167845		2203	4300	6503	SO:0001819	synonymous_variant	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2808A>G	2.37:g.158167845A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K936	ENST00000259056.4	37	c.2808	CCDS2203.1	2																																																																																			GALNT5	-	superfamily_Ricin_B_lectin		0.333	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	A	NM_014568		158167845	+1	no_errors	ENST00000259056	ensembl	human	known	70_37	silent	SNP	0.440	G
HERC2	8924	genome.wustl.edu	37	15	28525273	28525273	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr15:28525273C>T	ENST00000261609.7	-	5	591	c.483G>A	c.(481-483)gaG>gaA	p.E161E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTGACATTCTCCTGAAAAA	0.458																																																	0													121.0	116.0	118.0					15																	28525273		2203	4300	6503	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.483G>A	15.37:g.28525273C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.E161	ENST00000261609.7	37	c.483	CCDS10021.1	15																																																																																			HERC2	-	NULL		0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	C	NM_004667		28525273	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNS3	3790	genome.wustl.edu	37	2	18113430	18113430	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:18113430C>T	ENST00000403915.1	+	3	1606	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.L385L	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	385					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGGGAAAGCTCATCGCCAGCA	0.552																																																	0													140.0	121.0	127.0					2																	18113430		2203	4300	6503	SO:0001819	synonymous_variant	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1155C>T	2.37:g.18113430C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.L385	ENST00000403915.1	37	c.1155	CCDS1692.1	2																																																																																			KCNS3	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.552	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	C	NM_002252		18113430	+1	no_errors	ENST00000304101	ensembl	human	known	70_37	silent	SNP	0.166	T
KCTD2	23510	genome.wustl.edu	37	17	73043594	73043594	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:73043594C>G	ENST00000322444.6	+	1	255	c.249C>G	c.(247-249)ttC>ttG	p.F83L	ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_5'Flank|KCTD2_ENST00000581589.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	83	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					GCACCTACTTCGTGACCACCA	0.711																																																	0													26.0	27.0	26.0					17																	73043594		2203	4300	6503	SO:0001583	missense	23510			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.249C>G	17.37:g.73043594C>G	ENSP00000312814:p.Phe83Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.F83L	ENST00000322444.6	37	c.249	CCDS32728.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377450	0.82682	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.55052	0.54	4.23	2.12	0.27331	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.93763	3.455	0.58432	D	0.999999	D	0.61697	0.99	P	0.57009	0.811	T	0.80899	-0.1176	10	0.87932	D	0	.	13.7286	0.62774	0.0:0.7044:0.2956:0.0	.	83	Q14681	KCTD2_HUMAN	L	83;65	ENSP00000312814:F83L	ENSP00000312814:F83L	F	+	3	2	KCTD2	70555189	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.426000	0.44731	0.320000	0.23234	-0.337000	0.08149	TTC	KCTD2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.711	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD2	HGNC	protein_coding	OTTHUMT00000445538.1	C			73043594	+1	no_errors	ENST00000322444	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM4D	55693	genome.wustl.edu	37	11	94731208	94731208	+	Silent	SNP	A	A	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:94731208A>G	ENST00000335080.5	+	3	1504	c.672A>G	c.(670-672)gaA>gaG	p.E224E	KDM4D_ENST00000536741.1_Silent_p.E224E	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	224	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGCGCCTGGAACGCCTGGCCA	0.592																																																	0													56.0	59.0	58.0					11																	94731208		2201	4298	6499	SO:0001819	synonymous_variant	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.672A>G	11.37:g.94731208A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E224	ENST00000335080.5	37	c.672	CCDS8302.1	11																																																																																			KDM4D	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.592	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	A	NM_018039		94731208	+1	no_errors	ENST00000335080	ensembl	human	known	70_37	silent	SNP	0.338	G
KIAA1524	57650	genome.wustl.edu	37	3	108276131	108276131	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:108276131C>A	ENST00000295746.8	-	17	2220	c.2144G>T	c.(2143-2145)aGg>aTg	p.R715M	KIAA1524_ENST00000491772.1_Missense_Mutation_p.R556M	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	715					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCTAACTTCCTATTATGTTG	0.378																																																	0													138.0	135.0	136.0					3																	108276131		2202	4299	6501	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2144G>T	3.37:g.108276131C>A	ENSP00000295746:p.Arg715Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R715M	ENST00000295746.8	37	c.2144	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516557	0.64634	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.30448	1.53;2.55	6.03	4.24	0.50183	.	0.456756	0.28493	N	0.015157	T	0.24812	0.0602	N	0.24115	0.695	0.29190	N	0.875937	P	0.50819	0.939	P	0.46275	0.51	T	0.07195	-1.0785	10	0.66056	D	0.02	-7.1022	9.6328	0.39789	0.0:0.7939:0.0:0.2061	.	715	Q8TCG1	CIP2A_HUMAN	M	556;715	ENSP00000419487:R556M;ENSP00000295746:R715M	ENSP00000295746:R715M	R	-	2	0	KIAA1524	109758821	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.378000	0.34328	0.869000	0.35703	0.557000	0.71058	AGG	KIAA1524	-	NULL		0.378	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	C	NM_020890		108276131	-1	no_errors	ENST00000295746	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF5B	3799	genome.wustl.edu	37	10	32307041	32307041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:32307041delT	ENST00000302418.4	-	23	2940	c.2483delA	c.(2482-2484)cagfs	p.Q828fs	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	828					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTTTTGCTTCTGAGCAGCGCT	0.353			T	"""RET, ALK"""	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													93.0	98.0	97.0					10																	32307041		2203	4300	6503	SO:0001589	frameshift_variant	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2483delA	10.37:g.32307041delT	ENSP00000307078:p.Gln828fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB2|Q5VZ85	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q828fs	ENST00000302418.4	37	c.2483	CCDS7171.1	10																																																																																			KIF5B	-	NULL		0.353	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	T	NM_004521		32307041	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
KLHDC3	116138	genome.wustl.edu	37	6	42985400	42985400	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:42985400G>C	ENST00000326974.4	+	3	493	c.298G>C	c.(298-300)Ggg>Cgg	p.G100R	KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_Missense_Mutation_p.K4N	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	100					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGACACCGAAGGGGCCTGCAA	0.557																																																	0													79.0	79.0	79.0					6																	42985400		2203	4300	6503	SO:0001583	missense	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.298G>C	6.37:g.42985400G>C	ENSP00000313995:p.Gly100Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.G100R	ENST00000326974.4	37	c.298	CCDS4880.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.260921|4.260921	0.80246|0.80246	.|.	.|.	ENSG00000124702|ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116|ENST00000244670	T|T	0.65178|0.16073	-0.14|2.37	5.4|5.4	5.4|5.4	0.78164|0.78164	Kelch-type beta propeller (1);|.	0.055023|.	0.64402|.	D|.	0.000001|.	T|T	0.10637|0.10637	0.0260|0.0260	L|L	0.38692|0.38692	1.165|1.165	0.40101|0.40101	D|D	0.976372|0.976372	P;D|B	0.76494|0.21905	0.909;0.999|0.062	P;D|B	0.80764|0.24269	0.752;0.994|0.052	T|T	0.04440|0.04440	-1.0951|-1.0951	10|9	0.51188|0.87932	T|D	0.08|0	.|.	19.5531|19.5531	0.95330|0.95330	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	100;100|4	E7ENU0;Q9BQ90|F8W6A4	.;KLDC3_HUMAN|.	R|N	100;100;100;73|4	ENSP00000313995:G100R|ENSP00000244670:K4N	ENSP00000313995:G100R|ENSP00000244670:K4N	G|K	+|+	1|3	0|2	KLHDC3|KLHDC3	43093378|43093378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.271000|9.271000	0.95698|0.95698	2.701000|2.701000	0.92244|0.92244	0.655000|0.655000	0.94253|0.94253	GGG|AAG	KLHDC3	-	NULL		0.557	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	G	NM_057161		42985400	+1	no_errors	ENST00000326974	ensembl	human	known	70_37	missense	SNP	1.000	C
KNDC1	85442	genome.wustl.edu	37	10	134980891	134980891	+	Missense_Mutation	SNP	G	G	A	rs149750022		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:134980891G>A	ENST00000304613.3	+	2	130	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.V37M|KNDC1_ENST00000368571.2_5'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	37	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCAGGAGAACGTGTCTCTGGC	0.706																																																	0								G	MET/VAL	0,4388		0,0,2194	19.0	18.0	18.0		109	4.0	1.0	10	dbSNP_134	18	2,8562		0,2,4280	yes	missense	KNDC1	NM_152643.6	21	0,2,6474	AA,AG,GG		0.0234,0.0,0.0154	possibly-damaging	37/1750	134980891	2,12950	2194	4282	6476	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.109G>A	10.37:g.134980891G>A	ENSP00000304437:p.Val37Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V37M	ENST00000304613.3	37	c.109	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	.	15.76	2.928548	0.52759	0.0	2.34E-4	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.31247	1.5;1.5	3.98	3.98	0.46160	KIND (2);	0.000000	0.45606	D	0.000345	T	0.51652	0.1687	M	0.62723	1.935	0.48511	D	0.999665	D	0.89917	1.0	D	0.85130	0.997	T	0.56751	-0.7927	10	0.87932	D	0	-16.3584	13.9112	0.63869	0.0:0.0:1.0:0.0	.	37	Q76NI1	VKIND_HUMAN	M	37	ENSP00000304437:V37M;ENSP00000357561:V37M	ENSP00000304437:V37M	V	+	1	0	KNDC1	134830881	1.000000	0.71417	0.991000	0.47740	0.199000	0.23934	9.225000	0.95219	1.946000	0.56461	0.205000	0.17691	GTG	KNDC1	-	smart_KIND		0.706	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	G	NM_152643		134980891	+1	no_errors	ENST00000368572	ensembl	human	known	70_37	missense	SNP	1.000	A
KNTC1	9735	genome.wustl.edu	37	12	123057788	123057788	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:123057788G>C	ENST00000333479.7	+	26	2416	c.2239G>C	c.(2239-2241)Gaa>Caa	p.E747Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.E710Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	747					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTACATGAGAGAACATGACTT	0.398																																																	0													172.0	170.0	170.0					12																	123057788		1844	4093	5937	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2239G>C	12.37:g.123057788G>C	ENSP00000328236:p.Glu747Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E747Q	ENST00000333479.7	37	c.2239	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442030	0.25900	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.28069	1.63;2.23	5.66	5.66	0.87406	.	0.051442	0.85682	D	0.000000	T	0.23611	0.0571	L	0.38838	1.175	0.80722	D	1	P;P	0.45768	0.58;0.866	B;B	0.37550	0.253;0.173	T	0.02138	-1.1207	10	0.27785	T	0.31	-23.7505	14.6071	0.68486	0.0:0.2666:0.7334:0.0	.	710;747	E7ES84;P50748	.;KNTC1_HUMAN	Q	710;747	ENSP00000397992:E710Q;ENSP00000328236:E747Q	ENSP00000328236:E747Q	E	+	1	0	KNTC1	121623741	1.000000	0.71417	0.294000	0.24946	0.174000	0.22865	5.151000	0.64875	2.680000	0.91292	0.655000	0.94253	GAA	KNTC1	-	NULL		0.398	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123057788	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.960	C
KTN1	3895	genome.wustl.edu	37	14	56139951	56139951	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr14:56139951G>C	ENST00000395314.3	+	40	3817	c.3749G>C	c.(3748-3750)aGa>aCa	p.R1250T	KTN1_ENST00000438792.2_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000395309.3_Missense_Mutation_p.R1250T|KTN1_ENST00000416613.1_Missense_Mutation_p.R1250T|KTN1_ENST00000554507.1_Intron|KTN1_ENST00000555573.1_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000413890.2_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1250					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGCAGTAAGACAGAATGAA	0.378			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													86.0	84.0	85.0					14																	56139951		2203	4300	6503	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3749G>C	14.37:g.56139951G>C	ENSP00000378725:p.Arg1250Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.R1250T	ENST00000395314.3	37	c.3749	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582831	0.86748	.	.	ENSG00000126777	ENST00000395309;ENST00000395314;ENST00000416613	T;T;T	0.33438	1.41;1.41;1.41	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000005	T	0.52805	0.1757	L	0.50333	1.59	0.58432	D	0.999997	D	0.69078	0.997	D	0.79784	0.993	T	0.38243	-0.9670	10	0.45353	T	0.12	-13.1045	20.3591	0.98849	0.0:0.0:1.0:0.0	.	1250	Q86UP2	KTN1_HUMAN	T	1250	ENSP00000378720:R1250T;ENSP00000378725:R1250T;ENSP00000388807:R1250T	ENSP00000378720:R1250T	R	+	2	0	KTN1	55209704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.187000	0.94912	2.816000	0.96949	0.561000	0.74099	AGA	KTN1	-	NULL		0.378	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56139951	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMB1	3912	genome.wustl.edu	37	7	107577713	107577713	+	Silent	SNP	A	A	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:107577713A>G	ENST00000222399.6	-	26	4001	c.3771T>C	c.(3769-3771)atT>atC	p.I1257I	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Silent_p.I1281I	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1257	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TAACATCTTTAATCAGTTTCC	0.358																																																	0													173.0	157.0	162.0					7																	107577713		2203	4300	6503	SO:0001819	synonymous_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3771T>C	7.37:g.107577713A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.I1257	ENST00000222399.6	37	c.3771	CCDS5750.1	7																																																																																			LAMB1	-	superfamily_t-SNARE		0.358	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	A	NM_002291		107577713	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	silent	SNP	1.000	G
NUP107	57122	genome.wustl.edu	37	12	69080906	69080906	+	Intron	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:69080906G>A	ENST00000229179.4	+	1	340				NUP107_ENST00000539906.1_5'Flank|RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTCGCCTGTTGGCGAAACGAA	0.552																																																	0													56.0	54.0	55.0					12																	69080906		692	1591	2283	SO:0001627	intron_variant	100507250			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.8+53G>A	12.37:g.69080906G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ67|Q6PJE1	RNA	SNP	-	NULL	ENST00000229179.4	37	NULL	CCDS8985.1	12																																																																																			RP11-637A17.2	-	-		0.552	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507250	Clone_based_vega_gene	protein_coding	OTTHUMT00000403195.1	G	NM_020401		69080906	-1	no_errors	ENST00000502102	ensembl	human	known	70_37	rna	SNP	0.002	A
ENTPD1	953	genome.wustl.edu	37	10	97515949	97515949	+	5'UTR	DEL	G	G	-	rs200451742	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:97515949delG	ENST00000371205.4	+	0	236				ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Intron|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000453258.2_Intron			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGCAGAGGCTGGGGGGGGGAA	0.493																																																	0													25.0	29.0	27.0					10																	97515949		2203	4300	6503	SO:0001623	5_prime_UTR_variant	728558			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.-48G>-	10.37:g.97515949delG		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	RNA	DEL	-	NULL	ENST00000371205.4	37	NULL	CCDS7444.1	10																																																																																			RP11-429G19.2	-	-		0.493	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728558	Clone_based_vega_gene	protein_coding	OTTHUMT00000049566.1	G	NM_001776		97515949	-1	no_errors	ENST00000416301	ensembl	human	known	70_37	rna	DEL	0.906	-
BMS1P20	96610	genome.wustl.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																																	0																																												96610					22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000426066.1	37	NULL		22																																																																																			LL22NC03-80A10.6	-	-		0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC96610	Clone_based_vega_gene	processed_transcript	OTTHUMT00000473090.1	A			22664606	+1	no_errors	ENST00000426066	ensembl	human	known	70_37	rna	SNP	0.999	G
LPIN2	9663	genome.wustl.edu	37	18	2937748	2937748	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr18:2937748C>T	ENST00000261596.4	-	7	1348	c.1110G>A	c.(1108-1110)gcG>gcA	p.A370A		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	370					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		AGGGCGCCTCCGCTAAGGCTG	0.488																																																	0													73.0	73.0	73.0					18																	2937748		2203	4300	6503	SO:0001819	synonymous_variant	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1110G>A	18.37:g.2937748C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD25|D3DUH3	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.A370	ENST00000261596.4	37	c.1110	CCDS11829.1	18																																																																																			LPIN2	-	NULL		0.488	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2937748	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	silent	SNP	0.000	T
MAGEB10	139422	genome.wustl.edu	37	X	27840298	27840298	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chrX:27840298T>G	ENST00000356790.2	+	3	1120	c.875T>G	c.(874-876)tTg>tGg	p.L292W		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	292	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CTTGAGTTTTTGGCCAAGGTA	0.483																																																	0													50.0	47.0	48.0					X																	27840298		2202	4300	6502	SO:0001583	missense	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.875T>G	X.37:g.27840298T>G	ENSP00000368304:p.Leu292Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L292W	ENST00000356790.2	37	c.875	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413593	0.42817	.	.	ENSG00000177689	ENST00000356790	T	0.02421	4.3	2.62	-0.0224	0.13948	.	0.260360	0.29473	U	0.012058	T	0.03651	0.0104	M	0.72624	2.21	0.09310	N	1	P	0.36712	0.566	B	0.37422	0.249	T	0.31833	-0.9929	10	0.54805	T	0.06	.	2.5747	0.04803	0.0:0.1725:0.2823:0.5452	.	292	Q96LZ2	MAGBA_HUMAN	W	292	ENSP00000368304:L292W	ENSP00000368304:L292W	L	+	2	0	MAGEB10	27750219	0.000000	0.05858	0.000000	0.03702	0.524000	0.34500	0.320000	0.19540	-0.087000	0.12528	0.345000	0.21793	TTG	MAGEB10	-	pfscan_MAGE		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	T	NM_182506		27840298	+1	no_errors	ENST00000356790	ensembl	human	known	70_37	missense	SNP	0.000	G
MAST4	375449	genome.wustl.edu	37	5	66398418	66398418	+	Silent	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:66398418C>G	ENST00000403625.2	+	9	1420	c.1125C>G	c.(1123-1125)gtC>gtG	p.V375V	MAST4_ENST00000261569.7_Silent_p.V181V|MAST4_ENST00000404260.3_Silent_p.V378V|MAST4_ENST00000490016.2_Silent_p.V186V|MAST4_ENST00000405643.1_Silent_p.V196V|MAST4_ENST00000403666.1_Silent_p.V186V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	378						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGAACCATGTCTACAAAGAAA	0.408																																																	0													121.0	117.0	118.0					5																	66398418		1880	4103	5983	SO:0001819	synonymous_variant	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1125C>G	5.37:g.66398418C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V378	ENST00000403625.2	37	c.1134	CCDS54861.1	5																																																																																			MAST4	-	pfam_MA_Ser/Thr_Kinase_dom		0.408	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66398418	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	silent	SNP	1.000	G
MDK	4192	genome.wustl.edu	37	11	46403873	46403873	+	Missense_Mutation	SNP	G	G	C	rs533427797		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:46403873G>C	ENST00000405308.2	+	3	535	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	MDK_ENST00000395569.4_Intron|MDK_ENST00000407067.1_Missense_Mutation_p.E36Q|MDK_ENST00000395565.1_Missense_Mutation_p.E36Q|MDK_ENST00000395566.4_Missense_Mutation_p.E36Q|MDK_ENST00000359803.3_Missense_Mutation_p.E36Q|MDK_ENST00000533283.1_3'UTR	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	36					adrenal gland development (GO:0030325)|behavioral fear response (GO:0001662)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cerebellar granular layer development (GO:0021681)|cerebral cortex development (GO:0021987)|defecation (GO:0030421)|dentate gyrus development (GO:0021542)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of behavior (GO:0050795)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to wounding (GO:0009611)|short-term memory (GO:0007614)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		CCCGGGGAGCGAGTGCGCTGA	0.701																																																	0													14.0	19.0	17.0					11																	46403873		2150	4199	6349	SO:0001583	missense	4192				CCDS7919.1, CCDS59226.1	11p11.2	2008-07-18			ENSG00000110492	ENSG00000110492			6972	protein-coding gene	gene with protein product		162096		NEGF2		8406506	Standard	NM_002391		Approved	MK, FLJ27379	uc001nco.4	P21741	OTTHUMG00000150315	ENST00000405308.2:c.106G>C	11.37:g.46403873G>C	ENSP00000385451:p.Glu36Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2LEK4|Q9UCC7	Missense_Mutation	SNP	pfam_Midkine_heparin-bd_GF_N,pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.E36Q	ENST00000405308.2	37	c.106	CCDS7919.1	11	.	.	.	.	.	.	.	.	.	.	g	15.71	2.912913	0.52439	.	.	ENSG00000110492	ENST00000405308;ENST00000441869;ENST00000405994;ENST00000359803;ENST00000533952;ENST00000395566;ENST00000407067;ENST00000395565	.	.	.	4.33	1.33	0.21861	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	.	.	.	.	T	0.34164	0.0888	L	0.52573	1.65	0.30462	N	0.774169	P;B;B	0.39181	0.663;0.146;0.036	B;B;B	0.37508	0.252;0.038;0.023	T	0.34354	-0.9832	8	0.66056	D	0.02	.	6.5789	0.22583	0.2292:0.1302:0.6406:0.0	.	36;36;36	C9JHA4;E9PLM6;P21741	.;.;MK_HUMAN	Q	36	.	ENSP00000352852:E36Q	E	+	1	0	MDK	46360449	0.574000	0.26684	0.147000	0.22382	0.048000	0.14542	0.923000	0.28757	0.182000	0.20032	-0.141000	0.14075	GAG	MDK	-	pfam_Midkine_heparin-bd_GF_N,superfamily_Midkine_heparin-bd_GF_diS,prints_Midkine_heparin-bd_GF		0.701	MDK-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MDK	HGNC	protein_coding	OTTHUMT00000317546.2	G	NM_001012334		46403873	+1	no_errors	ENST00000489525	ensembl	human	known	70_37	missense	SNP	0.705	C
MCAM	4162	genome.wustl.edu	37	11	119185550	119185550	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:119185550G>A	ENST00000264036.4	-	3	407	c.393C>T	c.(391-393)cgC>cgT	p.R131R	MCAM_ENST00000392814.1_5'Flank|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	131					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CACTGTAGACGCGGAGCTGGA	0.607																																																	0													45.0	51.0	49.0					11																	119185550		2199	4295	6494	SO:0001819	synonymous_variant	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.393C>T	11.37:g.119185550G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R131	ENST00000264036.4	37	c.393	CCDS31690.1	11																																																																																			MCAM	-	smart_Ig_sub		0.607	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	G			119185550	-1	no_errors	ENST00000264036	ensembl	human	known	70_37	silent	SNP	0.005	A
MIR1205	100302161	genome.wustl.edu	37	8	128972893	128972893	+	RNA	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:128972893G>C	ENST00000408844.1	+	0	15					NR_031610.1				microRNA 1205																		GCCTCTGCAGGGTTTGCTTTG	0.443																																																	0													149.0	130.0	136.0					8																	128972893		1568	3582	5150			100302161					8	2011-09-12		2008-12-18	ENSG00000221771	ENSG00000221771		"""ncRNAs / Micro RNAs"""	35271	non-coding RNA	RNA, micro				MIRN1205			Standard	NR_031610		Approved	hsa-mir-1205	uc022bbg.1				8.37:g.128972893G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408844.1	37	NULL		8																																																																																			MIR1205	-	-		0.443	MIR1205-201	KNOWN	basic	miRNA	MIR1205	HGNC	miRNA		G	NR_031610		128972893	+1	no_errors	ENST00000408844	ensembl	human	known	70_37	rna	SNP	0.016	C
ANKRD30BL	554226	genome.wustl.edu	37	2	133014619	133014619	+	Intron	SNP	C	C	T	rs199913868|rs78327226	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:133014619C>T	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGTACCGCAGCGACCCGCCTA	0.701																																																	0													26.0	45.0	39.0					2																	133014619		1552	3578	5130	SO:0001627	intron_variant	100313824					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+482G>A	2.37:g.133014619C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			MIR663B	-	-		0.701	ANKRD30BL-002	KNOWN	basic	processed_transcript	MIR663B	HGNC	protein_coding	OTTHUMT00000331354.1	C	NR_027019		133014619	-1	no_errors	ENST00000408361	ensembl	human	known	70_37	rna	SNP	0.004	T
MOV10L1	54456	genome.wustl.edu	37	22	50599416	50599416	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:50599416G>A	ENST00000262794.5	+	26	3569	c.3486G>A	c.(3484-3486)ctG>ctA	p.L1162L	MOV10L1_ENST00000395858.3_Silent_p.L1116L|MOV10L1_ENST00000395852.1_Silent_p.L289L|MOV10L1_ENST00000540615.1_Intron|MOV10L1_ENST00000545383.1_Silent_p.L1162L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1162					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGCTTTGCTGGAATACAGTA	0.502																																																	0													254.0	235.0	241.0					22																	50599416		2203	4300	6503	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3486G>A	22.37:g.50599416G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.L1162	ENST00000262794.5	37	c.3486	CCDS14084.1	22																																																																																			MOV10L1	-	NULL		0.502	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50599416	+1	no_errors	ENST00000262794	ensembl	human	known	70_37	silent	SNP	1.000	A
MRPL21	219927	genome.wustl.edu	37	11	68663993	68663993	+	Missense_Mutation	SNP	C	C	T	rs143584803		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:68663993C>T	ENST00000362034.2	-	4	395	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	MRPL21_ENST00000450904.2_Missense_Mutation_p.R44Q|MRPL21_ENST00000567045.1_Missense_Mutation_p.R44Q	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	129					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTCTCCAGTCGAATTCTCTC	0.537																																																	0								C	GLN/ARG,GLN/ARG	3,4397	6.2+/-15.9	0,3,2197	162.0	157.0	158.0		386,131	4.3	0.4	11	dbSNP_134	158	0,8588		0,0,4294	no	missense,missense	MRPL21	NM_181514.1,NM_181515.1	43,43	0,3,6491	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	129/206,44/121	68663993	3,12985	2200	4294	6494	SO:0001583	missense	219927			AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.386G>A	11.37:g.68663993C>T	ENSP00000354580:p.Arg129Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKU0|C9JPR2	Missense_Mutation	SNP	pfam_Ribosomal_L21,tigrfam_Ribosomal_L21	p.R129Q	ENST00000362034.2	37	c.386	CCDS8186.1	11	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179413	0.57800	6.82E-4	0.0	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	5.26	4.35	0.52113	.	0.110264	0.64402	N	0.000007	T	0.63965	0.2556	L	0.42245	1.32	0.53005	D	0.999967	D;D	0.71674	0.977;0.998	P;D	0.65874	0.64;0.939	T	0.63346	-0.6658	9	0.48119	T	0.1	-18.1726	9.1	0.36662	0.0:0.8309:0.0:0.1691	.	129;129	B4DXI4;Q7Z2W9	.;RM21_HUMAN	Q	44;129;129	.	ENSP00000354580:R129Q	R	-	2	0	MRPL21	68420569	0.918000	0.31147	0.415000	0.26534	0.244000	0.25665	2.780000	0.47742	1.215000	0.43411	0.655000	0.94253	CGA	MRPL21	-	pfam_Ribosomal_L21,tigrfam_Ribosomal_L21		0.537	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL21	HGNC	protein_coding	OTTHUMT00000396856.1	C	NM_181512		68663993	-1	no_errors	ENST00000362034	ensembl	human	known	70_37	missense	SNP	0.991	T
MUC20	200958	genome.wustl.edu	37	3	195453204	195453204	+	Missense_Mutation	SNP	C	C	T	rs202189746		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:195453204C>T	ENST00000447234.2	+	2	1856	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	MUC20_ENST00000436408.1_Missense_Mutation_p.S577L|MUC20_ENST00000445522.2_Missense_Mutation_p.S542L|MUC20_ENST00000320736.6_Missense_Mutation_p.S406L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	577	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACAGCCCCTCGGAAGCCGCC	0.592																																																	0								C	LEU/SER,LEU/SER	6,4048		0,6,2021	63.0	60.0	61.0		1112,1217	1.6	0.0	3		61	7,8389		0,7,4191	no	missense,missense	MUC20	NM_001098516.1,NM_152673.2	145,145	0,13,6212	TT,TC,CC		0.0834,0.148,0.1044	possibly-damaging,possibly-damaging	371/504,406/539	195453204	13,12437	2027	4198	6225	SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1730C>T	3.37:g.195453204C>T	ENSP00000414350:p.Ser577Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.S577L	ENST00000447234.2	37	c.1730		3	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556464	0.45487	0.00148	8.34E-4	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.17213	2.72;2.77;2.88;2.29	4.54	1.61	0.23674	.	1.280730	0.05598	N	0.575842	T	0.20700	0.0498	L	0.36672	1.1	0.09310	N	1	D	0.60160	0.987	P	0.53649	0.731	T	0.12091	-1.0561	10	0.39692	T	0.17	-9.0E-4	2.92	0.05766	0.1864:0.533:0.1805:0.1001	.	406	E9PH32	.	L	577;406;577;542	ENSP00000414350:S577L;ENSP00000325431:S406L;ENSP00000396774:S577L;ENSP00000405629:S542L	ENSP00000325431:S406L	S	+	2	0	MUC20	196938875	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.531000	0.23052	0.206000	0.20587	0.514000	0.50259	TCG	MUC20	-	NULL		0.592	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	C	NM_152673		195453204	+1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.000	T
MYH9	4627	genome.wustl.edu	37	22	36682865	36682865	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr22:36682865G>T	ENST00000216181.5	-	35	5190	c.4960C>A	c.(4960-4962)Ctg>Atg	p.L1654M	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1654					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGTCATCCAGCTCGCGCATG	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026519	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													119.0	104.0	109.0					22																	36682865		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4960C>A	22.37:g.36682865G>T	ENSP00000216181:p.Leu1654Met	Somatic	864	WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1654M	ENST00000216181.5	37	c.4960	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136945	0.77775	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.80566	-1.39	5.4	4.38	0.52667	Myosin tail (1);	0.206892	0.36778	N	0.002415	D	0.86372	0.5917	M	0.80028	2.48	0.80722	D	1	P	0.50528	0.936	P	0.53266	0.722	D	0.88498	0.3080	10	0.72032	D	0.01	.	14.392	0.66986	0.0725:0.0:0.9275:0.0	.	1654	P35579	MYH9_HUMAN	M	1076;256;1654	ENSP00000216181:L1654M	ENSP00000216181:L1654M	L	-	1	2	MYH9	35012811	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.088000	0.64486	2.509000	0.84616	0.557000	0.71058	CTG	MYH9	-	pfam_Myosin_tail,superfamily_tRNA-bd_arm		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36682865	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T
NCAN	1463	genome.wustl.edu	37	19	19360596	19360596	+	Missense_Mutation	SNP	G	G	A	rs370283222		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:19360596G>A	ENST00000252575.6	+	15	3941	c.3842G>A	c.(3841-3843)cGg>cAg	p.R1281Q	NCAN_ENST00000538881.1_Missense_Mutation_p.R732Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1281					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CATCGGATGCGGCGAcaccac	0.597																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	344.0	263.0	290.0		3842	4.6	0.6	19		290	0,8600		0,0,4300	no	missense	NCAN	NM_004386.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1281/1322	19360596	1,13005	2203	4300	6503	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3842G>A	19.37:g.19360596G>A	ENSP00000252575:p.Arg1281Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.R1281Q	ENST00000252575.6	37	c.3842	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759899	0.69763	2.27E-4	0.0	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86366	-1.9;-2.11	5.65	4.6	0.57074	.	0.218632	0.23420	N	0.048375	D	0.84488	0.5483	L	0.29908	0.895	0.18873	N	0.999988	D	0.71674	0.998	P	0.52514	0.701	T	0.75772	-0.3200	10	0.27082	T	0.32	-27.8088	12.5872	0.56424	0.0:0.1668:0.8332:0.0	.	1281	O14594	NCAN_HUMAN	Q	1295;1281;732	ENSP00000252575:R1281Q;ENSP00000442202:R732Q	ENSP00000252575:R1281Q	R	+	2	0	NCAN	19221596	1.000000	0.71417	0.560000	0.28344	0.756000	0.42949	4.957000	0.63652	1.365000	0.46057	0.549000	0.68633	CGG	NCAN	-	NULL		0.597	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19360596	+1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.356	A
NTNG2	84628	genome.wustl.edu	37	9	135073615	135073615	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:135073615G>A	ENST00000393229.3	+	3	1252	c.476G>A	c.(475-477)cGc>cAc	p.R159H	NTNG2_ENST00000393228.4_Missense_Mutation_p.R159H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R159H|NTNG2_ENST00000372179.3_Missense_Mutation_p.R159H	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	159	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GACAACGGGCGCACCTGGCAG	0.662																																																	0													57.0	44.0	49.0					9																	135073615		2203	4300	6503	SO:0001583	missense	84628			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.476G>A	9.37:g.135073615G>A	ENSP00000376921:p.Arg159His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R159H	ENST00000393229.3	37	c.476	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994006	0.93167	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.47528	1.92;0.84;0.84;1.92	5.22	5.22	0.72569	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.66056	0.2751	L	0.56769	1.78	0.54753	D	0.999985	D	0.76494	0.999	D	0.78314	0.991	T	0.66822	-0.5826	10	0.52906	T	0.07	.	17.7699	0.88489	0.0:0.0:1.0:0.0	.	159	Q96CW9	NTNG2_HUMAN	H	159	ENSP00000376921:R159H;ENSP00000376920:R159H;ENSP00000353888:R159H;ENSP00000361252:R159H	ENSP00000353888:R159H	R	+	2	0	NTNG2	134063436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.031000	0.88826	2.417000	0.82017	0.561000	0.74099	CGC	NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	G	NM_032536		135073615	+1	no_errors	ENST00000360670	ensembl	human	known	70_37	missense	SNP	1.000	A
OR10T2	128360	genome.wustl.edu	37	1	158368642	158368642	+	Silent	SNP	G	G	T	rs145580938	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:158368642G>T	ENST00000334438.1	-	1	614	c.615C>A	c.(613-615)atC>atA	p.I205I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					TAATTACCAGGATGCTGAGGC	0.453																																																	0													54.0	55.0	54.0					1																	158368642		2203	4300	6503	SO:0001819	synonymous_variant	128360			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.615C>A	1.37:g.158368642G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF98	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I205	ENST00000334438.1	37	c.615	CCDS30895.1	1																																																																																			OR10T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	HGNC	protein_coding	OTTHUMT00000046371.1	G	NM_001004475		158368642	-1	no_errors	ENST00000334438	ensembl	human	known	70_37	silent	SNP	0.632	T
OR1M1	125963	genome.wustl.edu	37	19	9204406	9204406	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:9204406G>A	ENST00000429566.3	+	1	552	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACATCCTCCTGATGGCCCGTC	0.577																																																	0													115.0	93.0	100.0					19																	9204406		2203	4300	6503	SO:0001819	synonymous_variant	125963				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.486G>A	19.37:g.9204406G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L162	ENST00000429566.3	37	c.486	CCDS32896.1	19																																																																																			OR1M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.577	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	G			9204406	+1	no_errors	ENST00000429566	ensembl	human	known	70_37	silent	SNP	0.001	A
OTOR	56914	genome.wustl.edu	37	20	16729605	16729605	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:16729605C>G	ENST00000246081.2	+	2	253	c.209C>G	c.(208-210)tCa>tGa	p.S70*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	70	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TATGTGTACTCAAAGCTGGTA	0.383																																																	0													70.0	73.0	72.0					20																	16729605		2203	4300	6503	SO:0001587	stop_gained	56914			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.209C>G	20.37:g.16729605C>G	ENSP00000246081:p.Ser70*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW22|Q3MIU6	Nonsense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.S70*	ENST00000246081.2	37	c.209	CCDS13124.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.242906	0.97408	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-40.9894	18.5344	0.91004	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000246081:S70X	S	+	2	0	OTOR	16677605	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.745000	0.62125	2.826000	0.97356	0.655000	0.94253	TCA	OTOR	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain		0.383	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	HGNC	protein_coding	OTTHUMT00000078108.2	C			16729605	+1	no_errors	ENST00000246081	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PBX2P1	5088	genome.wustl.edu	37	3	142896297	142896297	+	RNA	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:142896297C>T	ENST00000560287.1	+	0	1171									pre-B-cell leukemia homeobox 2 pseudogene 1																		ATCACTCCGACGCTCGATGGG	0.582																																																	0																																												5088					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142896297C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-		0.582	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	C	NG_002434		142896297	+1	no_errors	ENST00000560287	ensembl	human	known	70_37	rna	SNP	1.000	T
PCDHA11	56138	genome.wustl.edu	37	5	140249937	140249937	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:140249937G>A	ENST00000398640.2	+	1	1249	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	417	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAGAACGTGTGGGCCTA	0.622																																																	0													160.0	159.0	159.0					5																	140249937		2203	4300	6503	SO:0001583	missense	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1249G>A	5.37:g.140249937G>A	ENSP00000381636:p.Val417Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V417M	ENST00000398640.2	37	c.1249	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	8.306	0.821032	0.16678	.	.	ENSG00000249158	ENST00000398640	T	0.51574	0.7	5.7	2.99	0.34606	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48804	0.1520	M	0.71036	2.16	0.09310	N	1	P;P	0.48911	0.877;0.917	B;B	0.44224	0.444;0.223	T	0.38714	-0.9648	9	0.56958	D	0.05	.	8.8792	0.35365	0.2873:0.0:0.7127:0.0	.	417;417	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	M	417	ENSP00000381636:V417M	ENSP00000381636:V417M	V	+	1	0	PCDHA11	140230121	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.212000	0.09319	0.352000	0.24053	0.563000	0.77884	GTG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140249937	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	missense	SNP	0.001	A
PCDHB3	56132	genome.wustl.edu	37	5	140481796	140481796	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:140481796C>T	ENST00000231130.2	+	1	1563	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.692																																																	0													56.0	60.0	59.0					5																	140481796		2202	4298	6500	SO:0001819	synonymous_variant	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1563C>T	5.37:g.140481796C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8P2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y521	ENST00000231130.2	37	c.1563	CCDS4245.1	5																																																																																			PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140481796	+1	no_errors	ENST00000231130	ensembl	human	known	70_37	silent	SNP	0.940	T
PCDHGB4	8641	genome.wustl.edu	37	5	140768904	140768904	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:140768904G>A	ENST00000519479.1	+	1	1453	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGGCCAAGTCTCTTACTG	0.592																																																	0													67.0	74.0	72.0					5																	140768904		1968	4146	6114	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1453G>A	5.37:g.140768904G>A	ENSP00000428288:p.Val485Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V485I	ENST00000519479.1	37	c.1453	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	7.146	0.582879	0.13749	.	.	ENSG00000253953	ENST00000519479	T	0.47528	0.84	5.18	-0.923	0.10465	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29882	0.0747	N	0.10837	0.055	0.09310	N	1	P;B	0.38335	0.627;0.175	P;B	0.47015	0.534;0.437	T	0.30650	-0.9971	9	0.13108	T	0.6	.	6.172	0.20422	0.4014:0.0:0.4829:0.1157	.	485;485	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	I	485	ENSP00000428288:V485I	ENSP00000428288:V485I	V	+	1	0	PCDHGB4	140749088	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.025000	0.12413	-0.179000	0.10654	-0.793000	0.03317	GTC	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	G	NM_003736		140768904	+1	no_errors	ENST00000519479	ensembl	human	known	70_37	missense	SNP	0.004	A
PDE11A	50940	genome.wustl.edu	37	2	178705049	178705049	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:178705049C>T	ENST00000286063.6	-	6	1746	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.E227K|PDE11A_ENST00000389683.3_Missense_Mutation_p.E33K|PDE11A_ENST00000409504.1_Missense_Mutation_p.E119K|PDE11A_ENST00000449286.2_Missense_Mutation_p.E119K	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	477	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCAACCAGCTCAGCAATGCTG	0.473									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													121.0	113.0	116.0					2																	178705049		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1429G>A	2.37:g.178705049C>T	ENSP00000286063:p.Glu477Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E477K	ENST00000286063.6	37	c.1429	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957826	0.53400	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.69	5.69	0.88448	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65852	0.2731	L	0.31752	0.955	0.80722	D	1	P;B	0.46656	0.882;0.1	P;B	0.51701	0.677;0.168	T	0.57831	-0.7743	10	0.10902	T	0.67	.	19.8324	0.96640	0.0:1.0:0.0:0.0	.	227;477	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	K	477;227;119;33;119	ENSP00000286063:E477K;ENSP00000351232:E227K;ENSP00000386539:E119K;ENSP00000374333:E33K;ENSP00000390599:E119K	ENSP00000286063:E477K	E	-	1	0	PDE11A	178413295	1.000000	0.71417	0.967000	0.41034	0.849000	0.48306	7.772000	0.85439	2.696000	0.92011	0.467000	0.42956	GAG	PDE11A	-	pfam_GAF,smart_GAF		0.473	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	C			178705049	-1	no_errors	ENST00000286063	ensembl	human	known	70_37	missense	SNP	1.000	T
PHTF1	10745	genome.wustl.edu	37	1	114256082	114256082	+	Intron	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:114256082G>C	ENST00000369604.1	-	8	1107				PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000393357.2_Intron|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Intron|PHTF1_ENST00000357783.2_Intron|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000447664.2_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1						transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAGGAAAAGAAGATTAATT	0.284																																																	0													35.0	36.0	35.0					1																	114256082		2192	4292	6484	SO:0001627	intron_variant	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.624-22C>G	1.37:g.114256082G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	RNA	SNP	-	NULL	ENST00000369604.1	37	NULL	CCDS861.1	1																																																																																			PHTF1	-	-		0.284	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	G	NM_006608		114256082	-1	no_errors	ENST00000474926	ensembl	human	known	70_37	rna	SNP	0.000	C
PIWIL4	143689	genome.wustl.edu	37	11	94337148	94337148	+	Splice_Site	SNP	A	A	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:94337148A>G	ENST00000299001.6	+	13	1776		c.e13-1		RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTTTTATGTAGCATAAAAGT	0.303																																																	0													74.0	75.0	74.0					11																	94337148		2200	4295	6495	SO:0001630	splice_region_variant	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1566-1A>G	11.37:g.94337148A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Splice_Site	SNP	-	e13-2	ENST00000299001.6	37	c.1566-2	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727706	0.69074	.	.	ENSG00000134627	ENST00000299001	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0261	0.64586	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIWIL4	93976796	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.194000	0.65125	2.148000	0.66965	0.533000	0.62120	.	PIWIL4	-	-		0.303	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	A	NM_152431	Intron	94337148	+1	no_errors	ENST00000299001	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PKD1L1	168507	genome.wustl.edu	37	7	47886542	47886542	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:47886542C>A	ENST00000289672.2	-	32	5138	c.5088G>T	c.(5086-5088)aaG>aaT	p.K1696N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1696	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCACTCTCTCTTGTCCCAAA	0.413																																																	0													120.0	113.0	115.0					7																	47886542		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5088G>T	7.37:g.47886542C>A	ENSP00000289672:p.Lys1696Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.K1696N	ENST00000289672.2	37	c.5088	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	8.523	0.869112	0.17322	.	.	ENSG00000158683	ENST00000289672	T	0.19806	2.12	5.07	-2.64	0.06114	.	0.791572	0.11082	N	0.601779	T	0.06462	0.0166	N	0.14661	0.345	0.09310	N	1	P	0.44195	0.828	B	0.30251	0.113	T	0.25152	-1.0140	10	0.33940	T	0.23	-3.4397	1.4317	0.02335	0.1258:0.2332:0.247:0.3939	.	1696	Q8TDX9	PK1L1_HUMAN	N	1696	ENSP00000289672:K1696N	ENSP00000289672:K1696N	K	-	3	2	PKD1L1	47853067	0.000000	0.05858	0.000000	0.03702	0.955000	0.61496	-0.483000	0.06536	-0.698000	0.05085	0.563000	0.77884	AAG	PKD1L1	-	NULL		0.413	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	C	NM_138295		47886542	-1	no_errors	ENST00000289672	ensembl	human	known	70_37	missense	SNP	0.000	A
PLAT	5327	genome.wustl.edu	37	8	42045026	42045026	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:42045026C>A	ENST00000220809.4	-	6	685	c.429G>T	c.(427-429)gaG>gaT	p.E143D	PLAT_ENST00000352041.3_Missense_Mutation_p.E97D|PLAT_ENST00000270189.6_Missense_Mutation_p.E143D|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.E143D	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	143	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CGGCGCCACTCTCCGCTGTGC	0.652																																																	0													51.0	44.0	46.0					8																	42045026		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.429G>T	8.37:g.42045026C>A	ENSP00000220809:p.Glu143Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E143D	ENST00000220809.4	37	c.429	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	C	7.387	0.630046	0.14257	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523;ENST00000521694	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.95	-11.1	0.00147	Kringle (4);Kringle-like fold (1);	0.411591	0.30159	N	0.010266	T	0.47728	0.1461	L	0.55213	1.73	0.09310	N	0.999998	B;B;B	0.18741	0.03;0.006;0.002	B;B;B	0.19946	0.027;0.008;0.022	T	0.18871	-1.0323	10	0.21540	T	0.41	.	10.0361	0.42129	0.0:0.2459:0.2829:0.4712	.	143;97;143	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	D	143;143;143;97;143;143	ENSP00000270189:E143D;ENSP00000392045:E143D;ENSP00000220809:E143D;ENSP00000270188:E97D;ENSP00000428797:E143D;ENSP00000429801:E143D	ENSP00000220809:E143D	E	-	3	2	PLAT	42164183	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-2.046000	0.01409	-1.959000	0.01018	0.655000	0.94253	GAG	PLAT	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	C	NM_000930		42045026	-1	no_errors	ENST00000220809	ensembl	human	known	70_37	missense	SNP	0.008	A
PLEC	5339	genome.wustl.edu	37	8	144993180	144993180	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:144993180C>T	ENST00000322810.4	-	32	11389	c.11220G>A	c.(11218-11220)caG>caA	p.Q3740Q	PLEC_ENST00000356346.3_Silent_p.Q3589Q|PLEC_ENST00000398774.2_Silent_p.Q3571Q|PLEC_ENST00000345136.3_Silent_p.Q3603Q|PLEC_ENST00000357649.2_Silent_p.Q3607Q|PLEC_ENST00000354589.3_Silent_p.Q3603Q|PLEC_ENST00000354958.2_Silent_p.Q3581Q|PLEC_ENST00000527096.1_Silent_p.Q3626Q|PLEC_ENST00000436759.2_Silent_p.Q3630Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3740	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCATCAGCTGGGCCCGCT	0.622																																																	0													33.0	41.0	38.0					8																	144993180		2183	4269	6452	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11220G>A	8.37:g.144993180C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q3740	ENST00000322810.4	37	c.11220	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144993180	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.021	T
PLXNA3	55558	genome.wustl.edu	37	X	153695476	153695476	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chrX:153695476G>A	ENST00000369682.3	+	18	3359	c.3184G>A	c.(3184-3186)Ggc>Agc	p.G1062S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1062	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGTACCGCGGCATTGAGAC	0.657																																																	0													79.0	71.0	74.0					X																	153695476		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3184G>A	X.37:g.153695476G>A	ENSP00000358696:p.Gly1062Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1062S	ENST00000369682.3	37	c.3184	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488462	0.84854	.	.	ENSG00000130827	ENST00000369682	T	0.79247	-1.25	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.56124	1.755	0.80722	D	1	P	0.37176	0.586	B	0.38264	0.269	T	0.76623	-0.2891	10	0.45353	T	0.12	.	17.6415	0.88138	0.0:0.0:1.0:0.0	.	1062	P51805	PLXA3_HUMAN	S	1062	ENSP00000358696:G1062S	ENSP00000358696:G1062S	G	+	1	0	PLXNA3	153348670	0.974000	0.33945	0.936000	0.37596	0.863000	0.49368	1.657000	0.37366	2.438000	0.82558	0.600000	0.82982	GGC	PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153695476	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP2CB	5516	genome.wustl.edu	37	8	30657146	30657146	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:30657146C>T	ENST00000221138.4	-	2	678	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	76					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	AGTTTGTATCCGGTGATTTTC	0.383																																																	0													138.0	135.0	136.0					8																	30657146		2203	4300	6503	SO:0001819	synonymous_variant	5516				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.228G>A	8.37:g.30657146C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSV4|P11082|Q6FHK5	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.P76	ENST00000221138.4	37	c.228	CCDS6079.1	8																																																																																			PPP2CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.383	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2CB	HGNC	protein_coding	OTTHUMT00000376527.2	C	NM_001009552		30657146	-1	no_errors	ENST00000221138	ensembl	human	known	70_37	silent	SNP	0.994	T
PSG2	5670	genome.wustl.edu	37	19	43586753	43586753	+	5'UTR	SNP	G	G	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:43586753G>T	ENST00000406487.1	-	0	67				PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2						cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CTCCTCTGTGGAGATGAGCCT	0.592																																																	0													83.0	79.0	80.0					19																	43586753		2201	4299	6500	SO:0001623	5_prime_UTR_variant	5670				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.-32C>A	19.37:g.43586753G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCD9|Q9UEA4|Q9UQ78	RNA	SNP	-	NULL	ENST00000406487.1	37	NULL	CCDS12616.1	19																																																																																			PSG2	-	-		0.592	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1	G	NM_031246		43586753	-1	no_errors	ENST00000491995	ensembl	human	known	70_37	rna	SNP	0.015	T
QRICH2	84074	genome.wustl.edu	37	17	74289415	74289415	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:74289415G>C	ENST00000262765.5	-	4	1074	c.895C>G	c.(895-897)Ctg>Gtg	p.L299V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	299										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACTGAAACCAGACCATGTTGG	0.478																																																	0													164.0	140.0	148.0					17																	74289415		2203	4300	6503	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.895C>G	17.37:g.74289415G>C	ENSP00000262765:p.Leu299Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.L299V	ENST00000262765.5	37	c.895	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	2.566	-0.300760	0.05495	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09817	2.94	3.46	-0.836	0.10770	.	.	.	.	.	T	0.08582	0.0213	L	0.56769	1.78	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.13407	0.009;0.003	T	0.42103	-0.9471	9	0.21014	T	0.42	-0.3304	1.3205	0.02115	0.1785:0.1181:0.3831:0.3203	.	299;299	B5MD94;Q9H0J4	.;QRIC2_HUMAN	V	299	ENSP00000262765:L299V	ENSP00000262765:L299V	L	-	1	2	QRICH2	71801010	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.159000	0.03150	0.055000	0.16094	-0.388000	0.06559	CTG	QRICH2	-	NULL		0.478	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	G	NM_032134		74289415	-1	no_errors	ENST00000262765	ensembl	human	known	70_37	missense	SNP	0.000	C
RGS2	5997	genome.wustl.edu	37	1	192779519	192779519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:192779519C>T	ENST00000235382.5	+	3	263	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	78					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						TGAGGAAGCACAGCTGTGGTC	0.468																																					Pancreas(71;51 2183 4981)												0													125.0	119.0	121.0					1																	192779519		2203	4300	6503	SO:0001587	stop_gained	5997			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.232C>T	1.37:g.192779519C>T	ENSP00000235382:p.Gln78*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9U5	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q78*	ENST00000235382.5	37	c.232	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.232154	0.95207	.	.	ENSG00000116741	ENST00000235382	.	.	.	5.81	3.94	0.45596	.	0.617829	0.17764	N	0.162797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6721	0.17728	0.1446:0.6413:0.1395:0.0745	.	.	.	.	X	78	.	ENSP00000235382:Q78X	Q	+	1	0	RGS2	191046142	0.958000	0.32768	0.785000	0.31869	0.996000	0.88848	2.202000	0.42743	0.802000	0.34089	0.655000	0.94253	CAG	RGS2	-	superfamily_Regulat_G_prot_signal_superfam		0.468	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	C	NM_002923		192779519	+1	no_errors	ENST00000235382	ensembl	human	known	70_37	nonsense	SNP	0.829	T
RIMS1	22999	genome.wustl.edu	37	6	72889509	72889509	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:72889509C>T	ENST00000521978.1	+	5	703	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	RIMS1_ENST00000517960.1_Missense_Mutation_p.P235S|RIMS1_ENST00000264839.7_Missense_Mutation_p.P235S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P235S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P235S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P235S|RIMS1_ENST00000518273.1_Missense_Mutation_p.P235S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P235S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	235					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTGCTCCTCCCAGCGCACC	0.592																																																	0													50.0	57.0	54.0					6																	72889509		2117	4245	6362	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.703C>T	6.37:g.72889509C>T	ENSP00000428417:p.Pro235Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.P235S	ENST00000521978.1	37	c.703	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	4.605	0.112390	0.08831	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15952	2.38;2.53;2.45;2.52;2.51;2.52;2.52;2.43	5.65	3.6	0.41247	.	0.401392	0.23579	N	0.046674	T	0.02494	0.0076	N	0.11201	0.11	0.20403	N	0.999905	B	0.02656	0.0	B	0.04013	0.001	T	0.35798	-0.9774	10	0.44086	T	0.13	-1.1803	4.3936	0.11351	0.0:0.5475:0.0:0.4525	.	235	Q86UR5	RIMS1_HUMAN	S	235	ENSP00000430101:P235S;ENSP00000275037:P235S;ENSP00000264839:P235S;ENSP00000429959:P235S;ENSP00000430408:P235S;ENSP00000430502:P235S;ENSP00000430932:P235S;ENSP00000428417:P235S	ENSP00000264839:P235S	P	+	1	0	RIMS1	72946230	0.217000	0.23597	0.014000	0.15608	0.039000	0.13416	1.594000	0.36697	1.369000	0.46134	0.655000	0.94253	CCC	RIMS1	-	NULL		0.592	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			72889509	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	missense	SNP	0.066	T
RUFY1	80230	genome.wustl.edu	37	5	179021873	179021873	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:179021873G>C	ENST00000319449.4	+	12	1432	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.E366Q|RUFY1_ENST00000437570.2_Missense_Mutation_p.E366Q	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	474					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGAATGCAGAGAGCAGTTT	0.408										HNSCC(44;0.11)																																							0													116.0	99.0	105.0					5																	179021873		2203	4300	6503	SO:0001583	missense	80230			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1420G>C	5.37:g.179021873G>C	ENSP00000325594:p.Glu474Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.E474Q	ENST00000319449.4	37	c.1420	CCDS4445.2	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.2|27.2|27.2	4.809651|4.809651|4.809651	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000176783|ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569|ENST00000508609|ENST00000502434	T;T;T|.|.	0.54866|.|.	0.55;0.59;0.59|.|.	5.16|5.16|5.16	5.16|5.16|5.16	0.70880|0.70880|0.70880	.|.|.	0.172432|.|.	0.51477|.|.	D|.|.	0.000090|.|.	T|T|T	0.78935|0.78935|0.78935	0.4362|0.4362|0.4362	M|M|M	0.80183|0.80183|0.80183	2.485|2.485|2.485	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.67145|.|.	0.996|.|.	D|.|.	0.63703|.|.	0.917|.|.	T|T|T	0.79624|0.79624|0.79624	-0.1726|-0.1726|-0.1726	10|5|5	0.46703|.|.	T|.|.	0.11|.|.	-29.1204|-29.1204|-29.1204	19.0495|19.0495|19.0495	0.93038|0.93038|0.93038	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	474|.|.	Q96T51|.|.	RUFY1_HUMAN|.|.	Q|H|T	474;366;366;76|262|151	ENSP00000325594:E474Q;ENSP00000390025:E366Q;ENSP00000377087:E366Q|.|.	ENSP00000325594:E474Q|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	RUFY1|RUFY1|RUFY1	178954479|178954479|178954479	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.846000|0.846000|0.846000	0.48090|0.48090|0.48090	8.450000|8.450000|8.450000	0.90340|0.90340|0.90340	2.567000|2.567000|2.567000	0.86603|0.86603|0.86603	0.550000|0.550000|0.550000	0.68814|0.68814|0.68814	GAG|CAG|AGA	RUFY1	-	NULL		0.408	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	G	NM_001040451		179021873	+1	no_errors	ENST00000319449	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN11A	11280	genome.wustl.edu	37	3	38889083	38889083	+	Missense_Mutation	SNP	G	G	A	rs374311646		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:38889083G>A	ENST00000302328.3	-	26	4676	c.4478C>T	c.(4477-4479)tCg>tTg	p.S1493L	SCN11A_ENST00000450244.1_Missense_Mutation_p.S1493L|SCN11A_ENST00000456224.3_Missense_Mutation_p.S1455L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1493					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1493L(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAGGAAGCGACATCATCAG	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LEU/SER	0,4406		0,0,2203	86.0	87.0	87.0		4478	5.8	1.0	3		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN11A	NM_014139.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1493/1792	38889083	1,13005	2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4478C>T	3.37:g.38889083G>A	ENSP00000307599:p.Ser1493Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S1493L	ENST00000302328.3	37	c.4478	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.290346	0.95546	0.0	1.16E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.98889	-5.21;-5.21;-5.21	5.81	5.81	0.92471	Ion transport (1);	0.109714	0.64402	D	0.000004	D	0.99576	0.9847	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97830	1.0262	10	0.87932	D	0	.	20.0787	0.97763	0.0:0.0:1.0:0.0	.	1493	Q9UI33	SCNBA_HUMAN	L	1493;1493;1455	ENSP00000307599:S1493L;ENSP00000400945:S1493L;ENSP00000416757:S1455L	ENSP00000307599:S1493L	S	-	2	0	SCN11A	38864087	1.000000	0.71417	0.974000	0.42286	0.931000	0.56810	9.859000	0.99545	2.750000	0.94351	0.637000	0.83480	TCG	SCN11A	-	pfam_Ion_trans_dom		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	G	NM_014139		38889083	-1	no_errors	ENST00000302328	ensembl	human	known	70_37	missense	SNP	1.000	A
SCNM1	79005	genome.wustl.edu	37	1	151139288	151139288	+	Intron	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:151139288G>A	ENST00000368905.4	+	3	233				LYSMD1_ENST00000440902.2_5'Flank|SCNM1_ENST00000461862.1_Intron|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGAAGTGGAGATTGGGTC	0.542																																																	0																																										SO:0001627	intron_variant	79005			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.123-122G>A	1.37:g.151139288G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWR1|Q5JR74	RNA	SNP	-	NULL	ENST00000368905.4	37	NULL	CCDS987.1	1																																																																																			SCNM1	-	-		0.542	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	G	NM_024041		151139288	+1	no_errors	ENST00000497147	ensembl	human	known	70_37	rna	SNP	0.009	A
BNIP3L	665	genome.wustl.edu	37	8	26238480	26238480	+	5'Flank	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr8:26238480C>T	ENST00000380629.2	+	0	0				BNIP3L_ENST00000523515.1_5'Flank|BNIP3L_ENST00000520409.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		TGAAATTTTACAATACTACAT	0.343																																																	0																																										SO:0001631	upstream_gene_variant	157489			AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26238480C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B0AZS9|Q5JW63|Q8NF87	RNA	SNP	-	NULL	ENST00000380629.2	37	NULL	CCDS6050.1	8																																																																																			SDAD1P1	-	-		0.343	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1P1	HGNC	protein_coding	OTTHUMT00000216895.1	C	NM_004331		26238480	-1	no_errors	ENST00000519902	ensembl	human	known	70_37	rna	SNP	1.000	T
SLC13A1	6561	genome.wustl.edu	37	7	122755586	122755586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:122755586C>A	ENST00000194130.2	-	15	1813	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	592					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGCATGGTCTCATTACTCATA	0.393																																																	0													156.0	128.0	137.0					7																	122755586		2203	4300	6503	SO:0001587	stop_gained	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1774G>T	7.37:g.122755586C>A	ENSP00000194130:p.Glu592*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5Z0	Nonsense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.E592*	ENST00000194130.2	37	c.1774	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679313	0.68042	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.81	-5.63	0.02474	.	2.147640	0.01996	N	0.045886	.	.	.	.	.	.	0.39829	D	0.972947	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.8397	12.0786	0.53657	0.0:0.2073:0.5625:0.2302	.	.	.	.	X	592	.	ENSP00000194130:E592X	E	-	1	0	SLC13A1	122542822	0.000000	0.05858	0.022000	0.16811	0.295000	0.27426	-0.035000	0.12205	-0.515000	0.06479	0.655000	0.94253	GAG	SLC13A1	-	NULL		0.393	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	C	NM_022444		122755586	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	nonsense	SNP	0.001	A
SLC18A2	6571	genome.wustl.edu	37	10	119029903	119029903	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:119029903G>A	ENST00000298472.5	+	15	1512	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	457					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GACAATTATTGGGATAATTGA	0.388																																																	0													203.0	188.0	193.0					10																	119029903		2203	4300	6503	SO:0001583	missense	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1369G>A	10.37:g.119029903G>A	ENSP00000298472:p.Gly457Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G457R	ENST00000298472.5	37	c.1369	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961417	0.92791	.	.	ENSG00000165646	ENST00000298472	D	0.82619	-1.63	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.92802	0.6257	10	0.87932	D	0	-11.4815	19.4009	0.94629	0.0:0.0:1.0:0.0	.	457	Q05940	VMAT2_HUMAN	R	457	ENSP00000298472:G457R	ENSP00000298472:G457R	G	+	1	0	SLC18A2	119019893	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.845000	0.99498	2.568000	0.86640	0.462000	0.41574	GGG	SLC18A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	G	NM_003054		119029903	+1	no_errors	ENST00000298472	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC1A2	6506	genome.wustl.edu	37	11	35336587	35336587	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr11:35336587A>T	ENST00000278379.3	-	3	575	c.293T>A	c.(292-294)aTc>aAc	p.I98N	SLC1A2_ENST00000395753.1_Missense_Mutation_p.I89N|SLC1A2_ENST00000395750.1_Missense_Mutation_p.I89N|SLC1A2_ENST00000606205.1_Missense_Mutation_p.I98N	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	98					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TAAGCTGGAGATGATTAGAGG	0.448																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0													142.0	135.0	138.0					11																	35336587		2202	4298	6500	SO:0001583	missense	6506			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.293T>A	11.37:g.35336587A>T	ENSP00000278379:p.Ile98Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.I98N	ENST00000278379.3	37	c.293	CCDS31459.1	11	.	.	.	.	.	.	.	.	.	.	A	22.5	4.297092	0.81025	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.66	5.66	0.87406	.	0.042787	0.85682	D	0.000000	T	0.78941	0.4363	M	0.89214	3.015	0.80722	D	1	D;D	0.60160	0.978;0.987	P;D	0.65323	0.905;0.934	D	0.83533	0.0092	10	0.87932	D	0	-19.8333	15.8792	0.79189	1.0:0.0:0.0:0.0	.	98;98	B4DQE9;P43004	.;EAA2_HUMAN	N	98;89;89;94	ENSP00000278379:I98N;ENSP00000379099:I89N;ENSP00000379102:I89N;ENSP00000406133:I94N	ENSP00000278379:I98N	I	-	2	0	SLC1A2	35293163	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.295000	0.96095	2.159000	0.67721	0.459000	0.35465	ATC	SLC1A2	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.448	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	A	NM_004171		35336587	-1	no_errors	ENST00000278379	ensembl	human	known	70_37	missense	SNP	1.000	T
SMAD1	4086	genome.wustl.edu	37	4	146435948	146435948	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr4:146435948G>A	ENST00000515385.1	+	2	725	c.183G>A	c.(181-183)ccG>ccA	p.P61P	SMAD1_ENST00000302085.4_Silent_p.P61P|SMAD1_ENST00000394092.2_Silent_p.P61P|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	61	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CAGGGCAACCGAGTAACTGTG	0.537																																					Pancreas(182;1287 2092 10326 35158 50562)												0													86.0	82.0	83.0					4																	146435948		2203	4300	6503	SO:0001819	synonymous_variant	4086			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.183G>A	4.37:g.146435948G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.P61	ENST00000515385.1	37	c.183	CCDS3765.1	4																																																																																			SMAD1	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.537	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	G	NM_005900		146435948	+1	no_errors	ENST00000302085	ensembl	human	known	70_37	silent	SNP	0.924	A
SNORD3D	780854	genome.wustl.edu	37	17	19015709	19015709	+	lincRNA	SNP	T	T	C	rs201196782		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:19015709T>C	ENST00000362793.1	-	0	432									small nucleolar RNA, C/D box 3D																		CTAGTCTCTGTCATTGAGCCA	0.547																																																	0													7.0	14.0	11.0					17																	19015709		814	1959	2773			780854					17p11.2	2013-09-05			ENSG00000199663				33192	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006882		Approved	U3-4					17.37:g.19015709T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000362793.1	37	NULL		17																																																																																			RP11-160E2.6	-	-		0.547	SNORD3D-201	KNOWN	basic	snoRNA	SNORD3D	Clone_based_vega_gene	lincRNA		T	NR_006882		19015709	-1	no_errors	ENST00000573866	ensembl	human	known	70_37	rna	SNP	0.007	C
SPATA16	83893	genome.wustl.edu	37	3	172766842	172766842	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr3:172766842G>T	ENST00000351008.3	-	3	838	c.655C>A	c.(655-657)Cct>Act	p.P219T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	219					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTTCAGCAGGTGCATCAAAT	0.368																																																	0													90.0	80.0	84.0					3																	172766842		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.655C>A	3.37:g.172766842G>T	ENSP00000341765:p.Pro219Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	NULL	p.P219T	ENST00000351008.3	37	c.655	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	G	0.353	-0.943603	0.02322	.	.	ENSG00000144962	ENST00000351008	T	0.15139	2.45	5.07	-0.0105	0.13996	Tetratricopeptide-like helical (1);	0.481200	0.19866	N	0.104305	T	0.07503	0.0189	N	0.14661	0.345	0.20873	N	0.999839	B	0.10296	0.003	B	0.11329	0.006	T	0.42103	-0.9471	10	0.09084	T	0.74	-0.3119	8.2022	0.31432	0.6819:0.0:0.3181:0.0	.	219	Q9BXB7	SPT16_HUMAN	T	219	ENSP00000341765:P219T	ENSP00000341765:P219T	P	-	1	0	SPATA16	174249536	0.977000	0.34250	0.983000	0.44433	0.111000	0.19643	1.172000	0.31908	-0.149000	0.11215	-1.004000	0.02495	CCT	SPATA16	-	NULL		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	G	NM_031955		172766842	-1	no_errors	ENST00000351008	ensembl	human	known	70_37	missense	SNP	0.996	T
SRRM2	23524	genome.wustl.edu	37	16	2813800	2813801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr16:2813800_2813801insA	ENST00000301740.8	+	11	3820_3821	c.3271_3272insA	c.(3271-3273)caafs	p.Q1091fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1091	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCAAATCTCAAACATCACCT	0.465																																																	0																																										SO:0001589	frameshift_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3274dupA	16.37:g.2813803_2813803dupA	ENSP00000301740:p.Gln1091fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	pfam_mRNA_splic_Cwf21	p.T1092fs	ENST00000301740.8	37	c.3271_3272	CCDS32373.1	16																																																																																			SRRM2	-	NULL		0.465	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-			2813801	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	frame_shift_ins	INS	0.969:0.793	A
STAG3	10734	genome.wustl.edu	37	7	99799930	99799930	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr7:99799930C>A	ENST00000426455.1	+	24	2937	c.2530C>A	c.(2530-2532)Cac>Aac	p.H844N	STAG3_ENST00000317296.5_Missense_Mutation_p.H844N|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.H786N	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	844					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCATGGACCACGTCTTCAT	0.547																																																	0													83.0	84.0	83.0					7																	99799930		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2530C>A	7.37:g.99799930C>A	ENSP00000400359:p.His844Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.H844N	ENST00000426455.1	37	c.2530	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	15.46	2.841357	0.51057	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.23950	1.88;1.89;1.88	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000086	T	0.43634	0.1256	L	0.46614	1.455	0.80722	D	1	B;D;B	0.76494	0.11;0.999;0.063	B;D;B	0.66084	0.074;0.941;0.074	T	0.05835	-1.0861	10	0.38643	T	0.18	-15.5655	17.3439	0.87305	0.0:1.0:0.0:0.0	.	786;844;844	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	N	844;786;844	ENSP00000400359:H844N;ENSP00000377586:H786N;ENSP00000319318:H844N	ENSP00000319318:H844N	H	+	1	0	STAG3	99637866	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	2.296000	0.43584	2.697000	0.92050	0.563000	0.77884	CAC	STAG3	-	NULL		0.547	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	C	NM_012447		99799930	+1	no_errors	ENST00000317296	ensembl	human	known	70_37	missense	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24078184	24078184	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:24078184G>C	ENST00000418390.2	+	4	1438	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D	TCEB3_ENST00000609199.1_Missense_Mutation_p.E363D	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	389					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGGTAAAAGAGAAGGGTTCTA	0.458											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91.0	99.0	96.0					1																	24078184		2203	4300	6503	SO:0001583	missense	6924			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1167G>C	1.37:g.24078184G>C	ENSP00000395574:p.Glu389Asp	Somatic	768	WXS	Illumina HiSeq	Phase_IV	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.E389D	ENST00000418390.2	37	c.1167	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	7.424	0.637313	0.14386	.	.	ENSG00000011007	ENST00000418390	T	0.11169	2.8	5.64	2.71	0.32032	.	0.489229	0.20442	N	0.092280	T	0.04998	0.0134	N	0.10809	0.05	0.38545	D	0.949303	B	0.11235	0.004	B	0.11329	0.006	T	0.37549	-0.9701	10	0.17832	T	0.49	-10.7536	7.1762	0.25747	0.2049:0.0:0.6723:0.1228	.	389	Q14241	ELOA1_HUMAN	D	389	ENSP00000395574:E389D	ENSP00000395574:E389D	E	+	3	2	TCEB3	23950771	0.987000	0.35691	0.995000	0.50966	0.156000	0.22039	0.078000	0.14761	0.723000	0.32274	0.655000	0.94253	GAG	TCEB3	-	NULL		0.458	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	G	NM_003198		24078184	+1	no_errors	ENST00000418390	ensembl	human	known	70_37	missense	SNP	1.000	C
TENC1	23371	genome.wustl.edu	37	12	53454245	53454245	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr12:53454245C>T	ENST00000314250.6	+	19	2964	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	TENC1_ENST00000379902.3_Missense_Mutation_p.R768W|TENC1_ENST00000314276.3_Missense_Mutation_p.R902W|TENC1_ENST00000549700.1_Missense_Mutation_p.R827W|TENC1_ENST00000451358.1_Missense_Mutation_p.R882W|TENC1_ENST00000546602.1_Missense_Mutation_p.R795W|TENC1_ENST00000552570.1_Missense_Mutation_p.R892W	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	892	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CACACTGCCTCGGTCTCCCCG	0.647																																																	0													60.0	52.0	55.0					12																	53454245		2203	4300	6503	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2674C>T	12.37:g.53454245C>T	ENSP00000319684:p.Arg892Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R902W	ENST00000314250.6	37	c.2704	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374803	0.61735	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94758	-3.46;-3.46;-3.46;-3.46;-3.51;-3.46;-3.49	4.69	4.69	0.59074	.	0.916272	0.09228	N	0.831009	D	0.94178	0.8132	N	0.24115	0.695	0.38810	D	0.955392	D;D;D;D	0.64830	0.993;0.993;0.99;0.994	P;P;P;P	0.59761	0.841;0.841;0.734;0.863	D	0.91638	0.5324	10	0.66056	D	0.02	-1.2334	13.3128	0.60390	0.0:1.0:0.0:0.0	.	892;795;892;902	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	W	768;902;892;882;795;892;827	ENSP00000369232:R768W;ENSP00000319756:R902W;ENSP00000319684:R892W;ENSP00000393362:R882W;ENSP00000449363:R795W;ENSP00000447021:R892W;ENSP00000449361:R827W	ENSP00000319684:R892W	R	+	1	2	TENC1	51740512	0.751000	0.28327	1.000000	0.80357	0.987000	0.75469	1.457000	0.35212	2.618000	0.88619	0.462000	0.41574	CGG	TENC1	-	NULL		0.647	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53454245	+1	no_errors	ENST00000314276	ensembl	human	known	70_37	missense	SNP	1.000	T
TPX2	22974	genome.wustl.edu	37	20	30371595	30371595	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:30371595C>T	ENST00000300403.6	+	12	1812	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	TPX2_ENST00000340513.4_Silent_p.T464T	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	428					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AACCACCCACCGAGCCTATTG	0.423																																																	0													86.0	92.0	90.0					20																	30371595		2203	4300	6503	SO:0001819	synonymous_variant	22974			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1284C>T	20.37:g.30371595C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Silent	SNP	pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot	p.T464	ENST00000300403.6	37	c.1392	CCDS13190.1	20																																																																																			TPX2	-	pfam_TPX2_importin		0.423	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	C			30371595	+1	no_errors	ENST00000340513	ensembl	human	known	70_37	silent	SNP	0.997	T
TRIM9	114088	genome.wustl.edu	37	14	51446219	51446219	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr14:51446219G>T	ENST00000298355.3	-	9	3077	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	TRIM9_ENST00000338969.5_Missense_Mutation_p.D733E	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	652	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTCTATTTAAGTCGAGGAGGA	0.448																																																	0													200.0	219.0	213.0					14																	51446219		2203	4300	6503	SO:0001583	missense	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1956C>A	14.37:g.51446219G>T	ENSP00000298355:p.Asp652Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.D733E	ENST00000298355.3	37	c.2199	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533622	0.85812	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	D;D	0.81996	-1.56;-1.56	5.89	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.983;0.998	D	0.91729	0.5395	10	0.87932	D	0	.	11.3507	0.49585	0.1387:0.0:0.8613:0.0	.	733;652	Q9C026-4;Q9C026	.;TRIM9_HUMAN	E	652;733	ENSP00000298355:D652E;ENSP00000342970:D733E	ENSP00000298355:D652E	D	-	3	2	TRIM9	50515969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.848000	0.55903	2.788000	0.95919	0.557000	0.71058	GAC	TRIM9	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.448	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	G	NM_015163		51446219	-1	no_errors	ENST00000338969	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPC4AP	26133	genome.wustl.edu	37	20	33594341	33594341	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr20:33594341G>A	ENST00000252015.2	-	15	1813	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.S567L|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S177L|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S536L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	575					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CACATCCCTTGACTTACACTC	0.512																																																	0													134.0	113.0	120.0					20																	33594341		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1724C>T	20.37:g.33594341G>A	ENSP00000252015:p.Ser575Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_DUF3689	p.S575L	ENST00000252015.2	37	c.1724	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658368	0.88154	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.78	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72338	0.977;0.977;0.977	T	0.59685	-0.7408	10	0.62326	D	0.03	.	15.1933	0.73063	0.0:0.1413:0.8587:0.0	.	536;567;575	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	L	575;567;177;536;560	ENSP00000252015:S575L;ENSP00000400614:S567L;ENSP00000446090:S177L;ENSP00000400497:S536L	ENSP00000252015:S575L	S	-	2	0	TRPC4AP	33058002	1.000000	0.71417	0.830000	0.32933	0.981000	0.71138	9.652000	0.98499	1.213000	0.43380	0.655000	0.94253	TCA	TRPC4AP	-	pfam_DUF3689		0.512	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	G	NM_015638		33594341	-1	no_errors	ENST00000252015	ensembl	human	known	70_37	missense	SNP	0.999	A
TRPM3	80036	genome.wustl.edu	37	9	73225620	73225620	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:73225620C>T	ENST00000377111.2	-	18	2779	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	TRPM3_ENST00000377110.3_Missense_Mutation_p.E846K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E708K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E718K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E695K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E850K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E693K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E873K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E708K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E718K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E705K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E705K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	871					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTTCCTCTTCATCCTTCTTC	0.473																																																	0													229.0	195.0	206.0					9																	73225620		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2536G>A	9.37:g.73225620C>T	ENSP00000366315:p.Glu846Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E873K	ENST00000377111.2	37	c.2617		9	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577135	0.86645	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.17	6.17	0.99709	.	0.057641	0.64402	D	0.000001	T	0.66839	0.2830	M	0.64170	1.965	0.50632	D	0.999882	B;B;P;B;B;P;B;B	0.38617	0.074;0.017;0.64;0.161;0.044;0.561;0.005;0.004	B;B;B;B;B;B;B;B	0.40825	0.062;0.023;0.341;0.045;0.028;0.281;0.061;0.007	T	0.64626	-0.6363	10	0.44086	T	0.13	-22.9909	20.8794	0.99867	0.0:1.0:0.0:0.0	.	846;846;836;850;708;705;818;693	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	K	846;846;718;708;705;850;705;693;718;708;873	ENSP00000366315:E846K;ENSP00000366314:E846K;ENSP00000366310:E718K;ENSP00000354066:E708K;ENSP00000366309:E705K;ENSP00000350140:E850K;ENSP00000386127:E705K;ENSP00000379581:E693K;ENSP00000379587:E718K;ENSP00000350791:E708K;ENSP00000389542:E873K	ENSP00000350140:E850K	E	-	1	0	TRPM3	72415440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	TRPM3	-	NULL		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	C	NM_206945		73225620	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T
TTC21B	79809	genome.wustl.edu	37	2	166773832	166773832	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:166773832C>A	ENST00000243344.7	-	14	1971	c.1834G>T	c.(1834-1836)Gat>Tat	p.D612Y		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	612					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGGCTTGTATCAACTTCAGTT	0.378																																																	0													169.0	159.0	162.0					2																	166773832		2203	4300	6503	SO:0001583	missense	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1834G>T	2.37:g.166773832C>A	ENSP00000243344:p.Asp612Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D612Y	ENST00000243344.7	37	c.1834	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700630	0.30142	.	.	ENSG00000123607	ENST00000243344	T	0.61158	0.13	5.74	5.74	0.90152	.	0.101398	0.64402	D	0.000002	T	0.58779	0.2146	L	0.54323	1.7	0.80722	D	1	P	0.52061	0.95	P	0.46758	0.526	T	0.62487	-0.6844	10	0.62326	D	0.03	-16.6578	13.1646	0.59562	0.0:0.9273:0.0:0.0727	.	612	Q7Z4L5	TT21B_HUMAN	Y	612	ENSP00000243344:D612Y	ENSP00000243344:D612Y	D	-	1	0	TTC21B	166482078	1.000000	0.71417	0.157000	0.22605	0.038000	0.13279	4.773000	0.62331	2.723000	0.93209	0.591000	0.81541	GAT	TTC21B	-	NULL		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	C	NM_024753		166773832	-1	no_errors	ENST00000243344	ensembl	human	known	70_37	missense	SNP	0.999	A
TTN	7273	genome.wustl.edu	37	2	179495034	179495034	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:179495034C>G	ENST00000591111.1	-	189	39516	c.39292G>C	c.(39292-39294)Gac>Cac	p.D13098H	TTN_ENST00000342175.6_Missense_Mutation_p.D5866H|TTN_ENST00000342992.6_Missense_Mutation_p.D12171H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5799H|TTN_ENST00000460472.2_Missense_Mutation_p.D5674H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D14739H|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13098					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCGTCTGGTCCAGGCGACAG	0.388																																																	0													78.0	84.0	82.0					2																	179495034		1855	4082	5937	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39292G>C	2.37:g.179495034C>G	ENSP00000465570:p.Asp13098His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D12171H	ENST00000591111.1	37	c.36511		2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462918	0.43736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52041	0.1710	M	0.81497	2.545	0.49389	D	0.999786	D;D;D;D	0.62365	0.991;0.991;0.991;0.991	P;P;P;P	0.50231	0.635;0.635;0.635;0.635	T	0.57974	-0.7718	9	0.87932	D	0	.	14.7083	0.69208	0.0:0.9314:0.0:0.0686	.	5674;5799;5866;13098	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	12171;5674;5866;5799;5674	ENSP00000343764:D12171H;ENSP00000434586:D5674H;ENSP00000340554:D5866H;ENSP00000352154:D5799H	ENSP00000340554:D5866H	D	-	1	0	TTN	179203279	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.866000	0.56040	2.873000	0.98535	0.563000	0.77884	GAC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179495034	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179605180	179605180	+	Silent	SNP	C	C	T	rs746578	byFrequency	TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr2:179605180C>T	ENST00000591111.1	-	46	12053	c.11829G>A	c.(11827-11829)gcG>gcA	p.A3943A	TTN_ENST00000342175.6_Silent_p.A4089A|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.A4022A|TTN_ENST00000460472.2_Silent_p.A3897A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A4260A			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGATGAGCGCACTTTGTG	0.483													C|||	1196	0.238818	0.1846	0.1585	5008	,	,		20859	0.4702		0.1382	False		,,,				2504	0.2342																0								C	,,,	585,3313		44,497,1408	106.0	99.0	101.0		11691,,12066,12267	-1.9	0.0	2	dbSNP_86	101	1064,7228		80,904,3162	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	124,1401,4570	TT,TC,CC		12.8316,15.0077,13.5275	,,,	3897/26927,,4022/27052,4089/27119	179605180	1649,10541	1949	4146	6095	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11829G>A	2.37:g.179605180C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A4089	ENST00000591111.1	37	c.12267		2																																																																																			TTN	-	superfamily_RNaseH-like_dom		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179605180	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	silent	SNP	0.000	T
TUBGCP2	10844	genome.wustl.edu	37	10	135094896	135094896	+	Silent	SNP	G	G	A	rs370230871		TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:135094896G>A	ENST00000252936.3	-	16	2493	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	TUBGCP2_ENST00000368563.2_Silent_p.F818F|TUBGCP2_ENST00000417178.2_Silent_p.F688F|TUBGCP2_ENST00000368562.1_Silent_p.F411F|TUBGCP2_ENST00000543663.1_Silent_p.F846F			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	818					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)		TGGTGGCCTCGAAGCCGGACA	0.612																																																	0													112.0	91.0	98.0					10																	135094896		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.2454C>T	10.37:g.135094896G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.F846	ENST00000252936.3	37	c.2538	CCDS7676.1	10																																																																																			TUBGCP2	-	NULL		0.612	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	G			135094896	-1	no_errors	ENST00000543663	ensembl	human	known	70_37	silent	SNP	0.894	A
UBAC1	10422	genome.wustl.edu	37	9	138847247	138847247	+	Silent	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr9:138847247G>A	ENST00000371756.3	-	2	370	c.153C>T	c.(151-153)agC>agT	p.S51S		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	51	Ubiquitin-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GATCTTCTAAGCTCCCATGAG	0.433																																					NSCLC(78;973 1398 27381 29552 42415)												0													205.0	226.0	219.0					9																	138847247		2203	4300	6503	SO:0001819	synonymous_variant	10422			AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.153C>T	9.37:g.138847247G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75500|Q9UMW7	Silent	SNP	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk	p.S51	ENST00000371756.3	37	c.153	CCDS35177.1	9																																																																																			UBAC1	-	NULL		0.433	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAC1	HGNC	protein_coding	OTTHUMT00000055034.1	G	NM_016172		138847247	-1	no_errors	ENST00000371756	ensembl	human	known	70_37	silent	SNP	1.000	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34840174	34840174	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr6:34840174C>T	ENST00000192788.5	+	21	4453	c.4282C>T	c.(4282-4284)Ctt>Ttt	p.L1428F	UHRF1BP1_ENST00000452449.2_Intron	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1428							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAAAAACTTCTTCAGGAGAT	0.433																																																	0													75.0	72.0	73.0					6																	34840174		1836	4097	5933	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4282C>T	6.37:g.34840174C>T	ENSP00000192788:p.Leu1428Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Missense_Mutation	SNP	NULL	p.L1428F	ENST00000192788.5	37	c.4282	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273622	0.59649	.	.	ENSG00000065060	ENST00000192788	T	0.16196	2.36	6.08	4.29	0.51040	.	0.071959	0.56097	N	0.000034	T	0.11793	0.0287	M	0.73962	2.25	0.80722	D	1	B	0.23735	0.09	B	0.22152	0.038	T	0.03630	-1.1018	10	0.72032	D	0.01	-9.9274	11.6535	0.51304	0.0:0.861:0.0:0.139	.	1428	Q6BDS2	URFB1_HUMAN	F	1428	ENSP00000192788:L1428F	ENSP00000192788:L1428F	L	+	1	0	UHRF1BP1	34948152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.181000	0.50903	1.587000	0.49959	0.655000	0.94253	CTT	UHRF1BP1	-	NULL		0.433	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34840174	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	1.000	T
ULK2	9706	genome.wustl.edu	37	17	19746514	19746514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr17:19746514G>A	ENST00000395544.4	-	8	1064	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	ULK2_ENST00000361658.2_Nonsense_Mutation_p.Q189*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCATAATGTTGAGACATAATA	0.378																																																	0													149.0	149.0	149.0					17																	19746514		2203	4300	6503	SO:0001587	stop_gained	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.565C>T	17.37:g.19746514G>A	ENSP00000378914:p.Gln189*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY69|O75119	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q189*	ENST00000395544.4	37	c.565	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.316856	0.99135	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-13.2979	18.5774	0.91159	0.0:0.0:1.0:0.0	.	.	.	.	X	189	.	ENSP00000354877:Q189X	Q	-	1	0	ULK2	19687106	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.383000	0.97214	2.639000	0.89480	0.655000	0.94253	CAA	ULK2	-	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_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom		0.378	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2	G	NM_014683		19746514	-1	no_errors	ENST00000361658	ensembl	human	known	70_37	nonsense	SNP	1.000	A
UPF2	26019	genome.wustl.edu	37	10	11994158	11994158	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr10:11994158C>G	ENST00000356352.2	-	14	3414	c.2941G>C	c.(2941-2943)Gaa>Caa	p.E981Q	UPF2_ENST00000397053.2_Missense_Mutation_p.E981Q|UPF2_ENST00000357604.5_Missense_Mutation_p.E981Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	981	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTAGCAGTTCTAGTGTATCA	0.368																																																	0													176.0	171.0	173.0					10																	11994158		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2941G>C	10.37:g.11994158C>G	ENSP00000348708:p.Glu981Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E981Q	ENST00000356352.2	37	c.2941	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145002	0.77888	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.26518	1.73;1.73;1.73	5.48	5.48	0.80851	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.62088	1.915	0.80722	D	1	D	0.58970	0.984	P	0.50082	0.63	T	0.04090	-1.0978	10	0.27082	T	0.32	.	19.7018	0.96057	0.0:1.0:0.0:0.0	.	981	Q9HAU5	RENT2_HUMAN	Q	981	ENSP00000348708:E981Q;ENSP00000350221:E981Q;ENSP00000380244:E981Q	ENSP00000348708:E981Q	E	-	1	0	UPF2	12034164	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	GAA	UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			11994158	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	G
USP11	8237	genome.wustl.edu	37	X	47106743	47106743	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chrX:47106743G>A	ENST00000218348.3	+	19	2590	c.2590G>A	c.(2590-2592)Gag>Aag	p.E864K	USP11_ENST00000377107.2_Missense_Mutation_p.E821K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	864	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GCCACAGAATGAGTCGAATCC	0.562																																																	0													69.0	63.0	65.0					X																	47106743		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2590G>A	X.37:g.47106743G>A	ENSP00000218348:p.Glu864Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.E864K	ENST00000218348.3	37	c.2590	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	g	7.963	0.747334	0.15710	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.29397	1.57;1.57	5.5	4.64	0.57946	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.822342	0.11592	N	0.548676	T	0.15392	0.0371	N	0.12831	0.26	0.20563	N	0.99989	B;B	0.32653	0.379;0.201	B;B	0.31442	0.13;0.075	T	0.15752	-1.0426	10	0.07030	T	0.85	-10.4827	9.2803	0.37725	0.1014:0.0:0.8986:0.0	.	590;864	B3KP28;P51784	.;UBP11_HUMAN	K	821;864	ENSP00000366311:E821K;ENSP00000218348:E864K	ENSP00000218348:E864K	E	+	1	0	USP11	46991687	0.991000	0.36638	0.005000	0.12908	0.188000	0.23474	2.140000	0.42159	1.098000	0.41479	0.431000	0.28591	GAG	USP11	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		G	NM_004651		47106743	+1	no_errors	ENST00000218348	ensembl	human	known	70_37	missense	SNP	0.308	A
ZC3H12A	80149	genome.wustl.edu	37	1	37948736	37948736	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr1:37948736T>C	ENST00000373087.6	+	6	1440	c.1324T>C	c.(1324-1326)Tcc>Ccc	p.S442P		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCATTGGCTCCCTGGAGAG	0.662																																																	0													23.0	27.0	26.0					1																	37948736		2201	4299	6500	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1324T>C	1.37:g.37948736T>C	ENSP00000362179:p.Ser442Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.S442P	ENST00000373087.6	37	c.1324	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748648	0.69533	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.22134	1.97	5.52	5.52	0.82312	.	0.601453	0.18798	N	0.130880	T	0.44030	0.1274	M	0.68952	2.095	0.40650	D	0.982025	D;B	0.89917	1.0;0.029	D;B	0.91635	0.999;0.018	T	0.21586	-1.0241	10	0.29301	T	0.29	-43.0297	14.2234	0.65843	0.0:0.0:0.0:1.0	.	237;442	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	P	442	ENSP00000362179:S442P	ENSP00000362174:S442P	S	+	1	0	ZC3H12A	37721323	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.321000	0.59209	2.086000	0.62901	0.459000	0.35465	TCC	ZC3H12A	-	NULL		0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	T	NM_025079		37948736	+1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFP36	7538	genome.wustl.edu	37	19	39898462	39898462	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:39898462C>T	ENST00000248673.3	+	2	162	c.104C>T	c.(103-105)tCg>tTg	p.S35L	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000597629.1_Missense_Mutation_p.S41L	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	35					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGGCTCCTCGGGACCCTGG	0.697																																					NSCLC(67;1164 1324 12056 21056 30097)												0													46.0	53.0	51.0					19																	39898462		2202	4298	6500	SO:0001583	missense	7538			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.104C>T	19.37:g.39898462C>T	ENSP00000248673:p.Ser35Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA54	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S41L	ENST00000248673.3	37	c.122		19	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955058	0.34471	.	.	ENSG00000128016	ENST00000248673	T	0.19105	2.17	3.68	1.2	0.21068	.	2.363590	0.02222	U	0.064120	T	0.15782	0.0380	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	10	0.48119	T	0.1	0.2064	7.0963	0.25311	0.0:0.6949:0.189:0.1161	.	35	P26651	TTP_HUMAN	L	35	ENSP00000248673:S35L	ENSP00000248673:S35L	S	+	2	0	ZFP36	44590302	.	.	0.167000	0.22817	0.982000	0.71751	.	.	0.719000	0.32188	0.478000	0.44815	TCG	ZFP36	-	NULL		0.697	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	HGNC	protein_coding		C			39898462	+1	no_errors	ENST00000597629	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF454	285676	genome.wustl.edu	37	5	178392175	178392175	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr5:178392175C>T	ENST00000320129.3	+	5	1073	c.770C>T	c.(769-771)tCc>tTc	p.S257F	ZNF454_ENST00000519564.1_Missense_Mutation_p.S257F	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGTGAGCTCCTCACTTACG	0.433																																																	0													86.0	91.0	89.0					5																	178392175		2203	4300	6503	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.770C>T	5.37:g.178392175C>T	ENSP00000326249:p.Ser257Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1P2|Q2M323	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.S257F	ENST00000320129.3	37	c.770	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242001	0.39598	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.37058	1.22;1.22	4.46	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.394519	0.18841	N	0.129669	T	0.49712	0.1573	M	0.79475	2.455	0.09310	N	1	D	0.67145	0.996	P	0.56700	0.804	T	0.43015	-0.9417	10	0.87932	D	0	-15.1912	7.1735	0.25732	0.1905:0.6253:0.1842:0.0	.	257	Q8N9F8	ZN454_HUMAN	F	257	ENSP00000326249:S257F;ENSP00000430354:S257F	ENSP00000326249:S257F	S	+	2	0	ZNF454	178324781	0.000000	0.05858	1.000000	0.80357	0.723000	0.41478	0.255000	0.18333	2.469000	0.83416	0.555000	0.69702	TCC	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	C	XM_209718		178392175	+1	no_errors	ENST00000320129	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF546	339327	genome.wustl.edu	37	19	40513243	40513243	+	Silent	SNP	C	C	T			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:40513243C>T	ENST00000347077.4	+	5	450	c.234C>T	c.(232-234)gaC>gaT	p.D78D	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.D52D	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D78D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTGCCTGGACGCTGTGCAGA	0.423																																																	1	Substitution - coding silent(1)	ovary(1)											133.0	116.0	122.0					19																	40513243		2203	4300	6503	SO:0001819	synonymous_variant	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.234C>T	19.37:g.40513243C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K913	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D78	ENST00000347077.4	37	c.234	CCDS12548.1	19																																																																																			ZNF546	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	C	NM_178544		40513243	+1	no_errors	ENST00000347077	ensembl	human	known	70_37	silent	SNP	0.040	T
ZNF606	80095	genome.wustl.edu	37	19	58491316	58491316	+	Silent	SNP	A	A	G			TCGA-C5-A1MJ-01A-11D-A14W-08	TCGA-C5-A1MJ-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85ef0ee0-dd3d-4733-89e7-1fb876ad266a	b6cb5ac1-ed74-4096-b0f4-9960384a128d	g.chr19:58491316A>G	ENST00000341164.4	-	7	1352	c.732T>C	c.(730-732)gcT>gcC	p.A244A	ZNF606_ENST00000536132.1_Silent_p.A154A	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCCAACTTTGAGCATGTGTAT	0.368																																																	0													94.0	93.0	94.0					19																	58491316		2203	4300	6503	SO:0001819	synonymous_variant	80095			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.732T>C	19.37:g.58491316A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A244	ENST00000341164.4	37	c.732	CCDS12968.1	19																																																																																			ZNF606	-	NULL		0.368	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	HGNC	protein_coding	OTTHUMT00000405961.1	A	NM_025027		58491316	-1	no_errors	ENST00000341164	ensembl	human	known	70_37	silent	SNP	0.170	G
