#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
ADAMTS19	171019	genome.wustl.edu	37	5	128957956	128957956	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:128957956C>T	ENST00000274487.4	+	10	1812	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	556	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGGTTCCCTCCAAGCTGCCA	0.458																																																	0													161.0	137.0	145.0					5																	128957956		2203	4300	6503	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1667C>T	5.37:g.128957956C>T	ENSP00000274487:p.Ser556Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S556F	ENST00000274487.4	37	c.1667	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722643	0.68959	.	.	ENSG00000145808	ENST00000274487	T	0.67345	-0.26	4.42	3.55	0.40652	Metallopeptidase, catalytic domain (1);	0.078816	0.52532	D	0.000076	T	0.69904	0.3163	M	0.67569	2.06	0.52099	D	0.999944	P	0.49862	0.929	P	0.48982	0.597	T	0.72010	-0.4419	9	.	.	.	.	13.3797	0.60761	0.0:0.9226:0.0:0.0774	.	556	Q8TE59	ATS19_HUMAN	F	556	ENSP00000274487:S556F	.	S	+	2	0	ADAMTS19	128985855	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.081000	0.50120	1.461000	0.47929	0.585000	0.79938	TCC	ADAMTS19	-	NULL		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	C	NM_133638		128957956	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	missense	SNP	1.000	T
AZIN2	113451	genome.wustl.edu	37	1	33567488	33567488	+	Intron	SNP	G	G	A	rs372074592		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:33567488G>A	ENST00000294517.6	+	10	1616				ADC_ENST00000373443.3_Intron|ADC_ENST00000358680.3_Missense_Mutation_p.V204M|ADC_ENST00000484656.1_Intron|ADC_ENST00000398167.1_Intron|ADC_ENST00000373441.1_Intron|ADC_ENST00000373440.1_Missense_Mutation_p.V204M	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN							agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	tttcattgccgtgtagcgctc	0.438																																																	0								G		0,1752		0,0,876	55.0	49.0	51.0			0.9	0.0	1		51	1,3981		0,1,1990	no	intron	ADC	NM_052998.2		0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			33567488	1,5733	876	1991	2867	SO:0001627	intron_variant	0																														ENST00000294517.6:c.1029+3708G>A	1.37:g.33567488G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase	p.V204M	ENST00000294517.6	37	c.610	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179839	0.38511	0.0	2.51E-4	ENSG00000142920	ENST00000341637;ENST00000358680;ENST00000373440	T;T	0.48836	0.8;0.8	0.917	0.917	0.19380	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.09310	N	1	D;D	0.63880	0.993;0.985	P;B	0.45071	0.468;0.32	T	0.31223	-0.9951	8	0.87932	D	0	.	5.1706	0.15108	0.0:0.0:1.0:0.0	.	204;362	Q96A70-5;Q96A70-3	.;.	M	374;204;204	ENSP00000351508:V204M;ENSP00000362539:V204M	ENSP00000339901:V374M	V	+	1	0	ADC	33340075	0.001000	0.12720	0.002000	0.10522	0.320000	0.28249	-0.004000	0.12878	0.811000	0.34303	0.555000	0.69702	GTG	ADC	-	NULL		0.438	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	G			33567488	+1	no_errors	ENST00000358680	ensembl	human	known	70_37	missense	SNP	0.002	A
ANXA2	302	genome.wustl.edu	37	15	60674634	60674634	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr15:60674634T>C	ENST00000396024.3	-	4	214	c.55A>G	c.(55-57)Aca>Gca	p.T19A	ANXA2_ENST00000421017.2_Missense_Mutation_p.T19A|ANXA2_ENST00000451270.2_Missense_Mutation_p.T19A|ANXA2_ENST00000332680.4_Missense_Mutation_p.T37A|ANXA2_ENST00000557937.1_5'UTR	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	19	S100A10-binding site. {ECO:0000255}.				angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTTGGGGGTGTAGAGTGCTGA	0.378																																																	0													73.0	63.0	66.0					15																	60674634		2203	4300	6503	SO:0001583	missense	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.55A>G	15.37:g.60674634T>C	ENSP00000379342:p.Thr19Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinII,prints_AnnexinV	p.T37A	ENST00000396024.3	37	c.109	CCDS10175.1	15	.	.	.	.	.	.	.	.	.	.	T	6.267	0.417439	0.11870	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.66	4.52	0.55395	.	0.606427	0.16391	U	0.216479	T	0.06508	0.0167	N	0.08118	0	0.34959	D	0.752021	B;D;B	0.56035	0.001;0.974;0.0	B;D;B	0.67725	0.001;0.953;0.0	T	0.49952	-0.8884	10	0.15066	T	0.55	.	8.6944	0.34287	0.0:0.087:0.0:0.913	.	19;37;19	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	A	19;37;19;19	ENSP00000379342:T19A;ENSP00000346032:T37A;ENSP00000411352:T19A;ENSP00000387545:T19A	ENSP00000346032:T37A	T	-	1	0	ANXA2	58461926	0.957000	0.32711	0.880000	0.34516	0.975000	0.68041	2.091000	0.41691	0.956000	0.37904	0.528000	0.53228	ACA	ANXA2	-	prints_AnnexinII		0.378	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2	HGNC	protein_coding	OTTHUMT00000256135.1	T	NM_001002857		60674634	-1	no_errors	ENST00000332680	ensembl	human	known	70_37	missense	SNP	0.948	C
ALPK3	57538	genome.wustl.edu	37	15	85402524	85402524	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr15:85402524G>A	ENST00000258888.5	+	7	4641	c.4474G>A	c.(4474-4476)Ggt>Agt	p.G1492S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1492	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGATGCCTCCGGTAGCCTGAA	0.582																																																	0													92.0	79.0	83.0					15																	85402524		2203	4299	6502	SO:0001583	missense	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4474G>A	15.37:g.85402524G>A	ENSP00000258888:p.Gly1492Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G1492S	ENST00000258888.5	37	c.4474	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.479366	0.96307	.	.	ENSG00000136383	ENST00000258888	T	0.40225	1.04	5.35	5.35	0.76521	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.76170	2.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.67795	-0.5578	10	0.62326	D	0.03	-21.5733	16.9141	0.86147	0.0:0.0:1.0:0.0	.	1492	Q96L96	ALPK3_HUMAN	S	1492	ENSP00000258888:G1492S	ENSP00000258888:G1492S	G	+	1	0	ALPK3	83203528	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	6.176000	0.71955	2.664000	0.90586	0.655000	0.94253	GGT	ALPK3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	G	NM_020778		85402524	+1	no_errors	ENST00000258888	ensembl	human	known	70_37	missense	SNP	1.000	A
APOH	350	genome.wustl.edu	37	17	64210633	64210633	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr17:64210633C>T	ENST00000205948.6	-	7	957	c.920G>A	c.(919-921)tGt>tAt	p.C307Y		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	307	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGTATAGCTACACTTCTTTTC	0.398																																					Melanoma(155;624 1882 16869 48804 51309)												0													188.0	161.0	170.0					17																	64210633		2203	4300	6503	SO:0001583	missense	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.920G>A	17.37:g.64210633C>T	ENSP00000205948:p.Cys307Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.C307Y	ENST00000205948.6	37	c.920	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	c	17.78	3.474134	0.63737	.	.	ENSG00000091583	ENST00000205948	T	0.46819	0.86	5.5	5.5	0.81552	Complement control module (2);Beta-2-glycoprotein-1 fifth domain (2);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69636	-0.5092	10	0.35671	T	0.21	.	18.2454	0.89984	0.0:1.0:0.0:0.0	.	307	P02749	APOH_HUMAN	Y	307	ENSP00000205948:C307Y	ENSP00000205948:C307Y	C	-	2	0	APOH	61641095	1.000000	0.71417	0.971000	0.41717	0.715000	0.41141	5.401000	0.66326	2.601000	0.87937	0.650000	0.86243	TGT	APOH	-	pfam_Sushi_2,superfamily_Complement_control_module		0.398	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	C	NM_000042		64210633	-1	no_errors	ENST00000205948	ensembl	human	known	70_37	missense	SNP	0.992	T
ASB17	127247	genome.wustl.edu	37	1	76397739	76397739	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:76397739G>A	ENST00000284142.6	-	1	377	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACTTCAAAACGGTATCCTGAT	0.373																																																	0													127.0	117.0	120.0					1																	76397739		2203	4300	6503	SO:0001583	missense	127247			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.238C>T	1.37:g.76397739G>A	ENSP00000284142:p.Arg80Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APB8|Q8N0X5	Missense_Mutation	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.R80C	ENST00000284142.6	37	c.238	CCDS671.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728133	0.48833	.	.	ENSG00000154007	ENST00000284142	T	0.44881	0.91	6.08	3.24	0.37175	.	0.334157	0.26096	N	0.026370	T	0.13500	0.0327	N	0.24115	0.695	0.40531	D	0.980936	B	0.11235	0.004	B	0.04013	0.001	T	0.05484	-1.0882	10	0.87932	D	0	.	8.4951	0.33123	0.239:0.0:0.761:0.0	.	80	Q8WXJ9	ASB17_HUMAN	C	80	ENSP00000284142:R80C	ENSP00000284142:R80C	R	-	1	0	ASB17	76170327	1.000000	0.71417	0.935000	0.37517	0.380000	0.30137	2.588000	0.46137	0.469000	0.27268	0.655000	0.94253	CGT	ASB17	-	superfamily_Ankyrin_rpt-contain_dom		0.373	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	G	NM_080868		76397739	-1	no_errors	ENST00000284142	ensembl	human	known	70_37	missense	SNP	0.947	A
ATP10B	23120	genome.wustl.edu	37	5	160047923	160047923	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:160047923G>A	ENST00000327245.5	-	15	2693	c.1847C>T	c.(1846-1848)aCg>aTg	p.T616M	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	616					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAGGGACGTCCCCAGAGC	0.483																																																	0													176.0	171.0	172.0					5																	160047923		1986	4194	6180	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1847C>T	5.37:g.160047923G>A	ENSP00000313600:p.Thr616Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T616M	ENST00000327245.5	37	c.1847	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	2.976	-0.211396	0.06140	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85339	-1.97;-1.97	5.53	-2.77	0.05877	HAD-like domain (1);	1.110240	0.06609	N	0.755297	T	0.80737	0.4680	L	0.50333	1.59	0.09310	N	1	B;B	0.23490	0.016;0.086	B;B	0.22386	0.016;0.039	T	0.61850	-0.6978	9	.	.	.	.	13.2751	0.60182	0.6716:0.0:0.3284:0.0	.	224;616	Q2YDW8;O94823	.;AT10B_HUMAN	M	616;224	ENSP00000313600:T616M;ENSP00000431081:T224M	.	T	-	2	0	ATP10B	159980501	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.057000	0.11768	-1.060000	0.03189	-0.982000	0.02568	ACG	ATP10B	-	superfamily_HAD-like_dom		0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	G	NM_025153		160047923	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.000	A
BAI2	576	genome.wustl.edu	37	1	32203034	32203034	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:32203034C>T	ENST00000373658.3	-	20	3316	c.2975G>A	c.(2974-2976)aGc>aAc	p.S992N	BAI2_ENST00000398556.3_Missense_Mutation_p.S940N|BAI2_ENST00000398547.1_Missense_Mutation_p.S925N|BAI2_ENST00000373655.2_Missense_Mutation_p.S992N|BAI2_ENST00000465256.1_5'Flank|BAI2_ENST00000440175.2_Missense_Mutation_p.S634N|BAI2_ENST00000257070.4_Missense_Mutation_p.S992N|BAI2_ENST00000398542.1_Missense_Mutation_p.S925N|BAI2_ENST00000527361.1_Missense_Mutation_p.S992N|BAI2_ENST00000398538.1_Missense_Mutation_p.S980N	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	992					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCTGCCTTGCTCAGCACCCG	0.562																																																	0													85.0	79.0	81.0					1																	32203034		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2975G>A	1.37:g.32203034C>T	ENSP00000362762:p.Ser992Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.S992N	ENST00000373658.3	37	c.2975	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	6.091	0.385024	0.11524	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.04	5.04	0.67666	GPCR, family 2-like (1);	0.000000	0.51477	D	0.000090	T	0.23649	0.0572	N	0.03881	-0.34	0.47819	D	0.999523	B;B;B;B;B	0.23316	0.082;0.067;0.03;0.082;0.083	B;B;B;B;B	0.32928	0.155;0.051;0.048;0.155;0.086	T	0.11203	-1.0597	10	0.02654	T	1	.	18.8871	0.92383	0.0:1.0:0.0:0.0	.	992;980;634;992;992	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	N	940;925;992;992;925;992;992;634;980	ENSP00000381564:S940N;ENSP00000381555:S925N;ENSP00000362762:S992N;ENSP00000362759:S992N;ENSP00000381550:S925N;ENSP00000257070:S992N;ENSP00000435397:S992N;ENSP00000391071:S634N;ENSP00000381548:S980N	ENSP00000257070:S992N	S	-	2	0	BAI2	31975621	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	1.515000	0.35845	2.724000	0.93272	0.561000	0.74099	AGC	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.562	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32203034	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	T
C2CD3	26005	genome.wustl.edu	37	11	73849953	73849953	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:73849953C>A	ENST00000334126.7	-	5	993	c.767G>T	c.(766-768)gGa>gTa	p.G256V	C2CD3_ENST00000539061.1_Missense_Mutation_p.G256V|C2CD3_ENST00000313663.7_Missense_Mutation_p.G256V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	256					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGCTGTAGTCCAAAGGAAGA	0.403																																																	0													89.0	82.0	84.0					11																	73849953		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.767G>T	11.37:g.73849953C>A	ENSP00000334379:p.Gly256Val	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G256V	ENST00000334126.7	37	c.767		11	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808820	0.50421	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.09817	2.94;2.96	5.84	3.96	0.45880	.	0.368103	0.28583	N	0.014824	T	0.27866	0.0686	M	0.72118	2.19	0.53005	D	0.999968	D;D	0.69078	0.989;0.997	P;D	0.66602	0.783;0.945	T	0.01786	-1.1274	10	0.72032	D	0.01	-4.4485	10.5601	0.45140	0.0:0.8443:0.0:0.1557	.	256;256	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	V	256	ENSP00000334379:G256V;ENSP00000323339:G256V	ENSP00000289350:G256V	G	-	2	0	C2CD3	73527601	0.340000	0.24792	0.999000	0.59377	0.932000	0.56968	0.624000	0.24462	1.482000	0.48325	-0.150000	0.13652	GGA	C2CD3	-	NULL		0.403	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73849953	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.999	A
BARX2	8538	genome.wustl.edu	37	11	129312620	129312620	+	Intron	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:129312620C>T	ENST00000281437.4	+	3	584				BARX2_ENST00000531946.1_Nonsense_Mutation_p.R5*|BARX2_ENST00000526127.1_Intron	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2						cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGGGGAGGTCCGAGCCTTGGT	0.537																																																	0																																										SO:0001627	intron_variant	8538			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.489-110C>T	11.37:g.129312620C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43518|Q6NT51	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.R5*	ENST00000281437.4	37	c.13	CCDS8481.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.574995	0.97676	.	.	ENSG00000043039	ENST00000531946	.	.	.	3.76	-3.55	0.04639	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0171	0.19608	0.1289:0.3595:0.0:0.5116	.	.	.	.	X	5	.	.	R	+	1	2	BARX2	128817830	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.527000	0.00946	-1.268000	0.02439	-3.029000	0.00073	CGA	BARX2	-	NULL		0.537	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX2	HGNC	protein_coding	OTTHUMT00000386153.1	C	NM_003658		129312620	+1	no_errors	ENST00000531946	ensembl	human	putative	70_37	nonsense	SNP	0.000	T
CACNA1I	8911	genome.wustl.edu	37	22	40037064	40037064	+	Missense_Mutation	SNP	T	T	G			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr22:40037064T>G	ENST00000402142.3	+	6	933	c.933T>G	c.(931-933)aaT>aaG	p.N311K	CACNA1I_ENST00000404898.1_Missense_Mutation_p.N311K|CACNA1I_ENST00000336649.4_Missense_Mutation_p.N311K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.N311K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.N311K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.N311K	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	311					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGACCTCAATGCCAGCGGCC	0.617																																																	0													62.0	68.0	66.0					22																	40037064		2049	4187	6236	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.933T>G	22.37:g.40037064T>G	ENSP00000385019:p.Asn311Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.N311K	ENST00000402142.3	37	c.933	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613894	0.66672	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96830	-4.13;-4.08;-4.12;-4.07;-4.14;-4.05	5.21	-2.68	0.06041	Ion transport (1);	0.116923	0.56097	D	0.000022	D	0.94036	0.8089	N	0.12182	0.205	0.36317	D	0.858016	P;P;P;D	0.89917	0.951;0.843;0.898;1.0	P;P;P;D	0.87578	0.718;0.479;0.643;0.998	D	0.90829	0.4715	10	0.30078	T	0.28	.	12.5088	0.55995	0.0:0.2976:0.0:0.7024	.	311;311;311;311	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	K	311	ENSP00000385019:N311K;ENSP00000384093:N311K;ENSP00000383887:N311K;ENSP00000385680:N311K;ENSP00000337829:N311K;ENSP00000383028:N311K	ENSP00000337829:N311K	N	+	3	2	CACNA1I	38367010	0.000000	0.05858	0.953000	0.39169	0.774000	0.43823	-3.087000	0.00610	-0.721000	0.04929	-1.013000	0.02462	AAT	CACNA1I	-	pfam_Ion_trans_dom		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	T	NM_001003406		40037064	+1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	0.921	G
CACNB4	785	genome.wustl.edu	37	2	152954869	152954869	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:152954869G>A	ENST00000539935.1	-	2	189	c.122C>T	c.(121-123)aCt>aTt	p.T41I	CACNB4_ENST00000201943.5_Missense_Mutation_p.T41I|AC079790.2_ENST00000420365.1_RNA|CACNB4_ENST00000427385.1_Missense_Mutation_p.T23I	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	41					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGGTCGAAGTGGTGCTGCC	0.667																																																	0													71.0	79.0	76.0					2																	152954869		2021	4182	6203	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.122C>T	2.37:g.152954869G>A	ENSP00000438949:p.Thr41Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.T41I	ENST00000539935.1	37	c.122	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393673	0.83011	.	.	ENSG00000182389	ENST00000539935;ENST00000439467;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T	0.73681	-0.77;-0.76;-0.73;-0.76	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	L	0.34521	1.04	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.70487	0.969;0.969;0.969	T	0.82168	-0.0591	10	0.72032	D	0.01	-0.1364	15.9983	0.80268	0.0:0.0:1.0:0.0	.	41;41;23	A7BJ74;O00305;B4DG40	.;CACB4_HUMAN;.	I	41;36;23;41;41	ENSP00000438949:T41I;ENSP00000390161:T36I;ENSP00000410978:T23I;ENSP00000201943:T41I	ENSP00000201943:T41I	T	-	2	0	CACNB4	152663115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.807000	0.75201	2.372000	0.80975	0.655000	0.94253	ACT	CACNB4	-	NULL		0.667	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152954869	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	A
CDC16	8881	genome.wustl.edu	37	13	115012591	115012591	+	Intron	DEL	T	T	-	rs5807004		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr13:115012591delT	ENST00000356221.3	+	11	1079				CDC16_ENST00000375310.1_Intron|CDC16_ENST00000375312.3_Intron|CDC16_ENST00000252458.6_Intron|CDC16_ENST00000360383.3_Intron|CDC16_ENST00000252457.5_Intron|CDC16_ENST00000375308.1_Intron|MIR548AR_ENST00000582191.1_RNA			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAATAAATGttttttttttt	0.353																																																	0																																										SO:0001627	intron_variant	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.971+112T>-	13.37:g.115012591delT		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A365|Q5T8C8|Q96AE6|Q9Y564	RNA	DEL	-	NULL	ENST00000356221.3	37	NULL	CCDS9542.2	13																																																																																			CDC16	-	-		0.353	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1	T	NM_003903		115012591	+1	no_errors	ENST00000494581	ensembl	human	known	70_37	rna	DEL	0.004	-
CMC4	100272147	genome.wustl.edu	37	X	154290189	154290189	+	Silent	SNP	T	T	G			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:154290189T>G	ENST00000369484.3	-	3	814	c.136A>C	c.(136-138)Aga>Cga	p.R46R	CMC4_ENST00000369479.1_Silent_p.R46R	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	46					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											ACGACAGATCTTCCCTTGGGA	0.438																																																	0													173.0	146.0	155.0					X																	154290189		2203	4300	6503	SO:0001819	synonymous_variant	100272147				CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.136A>C	X.37:g.154290189T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYP9	Silent	SNP	pfam_MTCP1,superfamily_MTCP1	p.R46	ENST00000369484.3	37	c.136	CCDS14764.1	X																																																																																			CMC4	-	pfam_MTCP1,superfamily_MTCP1		0.438	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	CMC4	HGNC	protein_coding	OTTHUMT00000037822.2	T	NM_001018024.2		154290189	-1	no_errors	ENST00000369479	ensembl	human	known	70_37	silent	SNP	1.000	G
CTNNA2	1496	genome.wustl.edu	37	2	80831287	80831287	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:80831287C>T	ENST00000402739.4	+	15	2283	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R760C|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R794C|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R760C|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R439C|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R760C|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000599412.2_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R760C	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	760					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAATTAGCTCGTGCTGTGGC	0.438																																																	0													75.0	70.0	72.0					2																	80831287		1921	4148	6069	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2278C>T	2.37:g.80831287C>T	ENSP00000384638:p.Arg760Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R794C	ENST00000402739.4	37	c.2380		2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657968	0.88154	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.947;0.99;0.988;0.988	T	0.76443	-0.2957	9	.	.	.	.	16.1587	0.81683	0.1339:0.8661:0.0:0.0	.	392;760;760;760	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	C	760;760;794;760;760;760;439	ENSP00000418191:R760C;ENSP00000419295:R760C;ENSP00000355398:R794C;ENSP00000384638:R760C;ENSP00000444675:R760C;ENSP00000441705:R760C;ENSP00000341500:R439C	.	R	+	1	0	CTNNA2	80684798	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	6.008000	0.70739	2.713000	0.92767	0.655000	0.94253	CGT	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	C	NM_004389		80831287	+1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	1.000	T
DACT1	51339	genome.wustl.edu	37	14	59112032	59112032	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr14:59112032G>A	ENST00000335867.4	+	4	715	c.691G>A	c.(691-693)Gca>Aca	p.A231T	DACT1_ENST00000395153.3_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000541264.2_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	231					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A231T(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCTCAGGGGCAGTTTGCCG	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											125.0	115.0	119.0					14																	59112032		2203	4300	6503	SO:0001583	missense	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.691G>A	14.37:g.59112032G>A	ENSP00000337439:p.Ala231Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.A231T	ENST00000335867.4	37	c.691	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	G	2.705	-0.269987	0.05716	.	.	ENSG00000165617	ENST00000335867	T	0.41758	0.99	5.41	2.55	0.30701	.	0.491785	0.21510	N	0.073384	T	0.16599	0.0399	N	0.10685	0.025	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.25012	-1.0144	10	0.08599	T	0.76	-2.0246	4.4329	0.11536	0.3943:0.0:0.4513:0.1544	.	231	Q9NYF0	DACT1_HUMAN	T	231	ENSP00000337439:A231T	ENSP00000337439:A231T	A	+	1	0	DACT1	58181785	0.344000	0.24827	0.957000	0.39632	0.988000	0.76386	0.460000	0.21924	0.332000	0.23536	0.563000	0.77884	GCA	DACT1	-	NULL		0.433	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	G	NM_016651		59112032	+1	no_errors	ENST00000335867	ensembl	human	known	70_37	missense	SNP	0.142	A
DNAH11	8701	genome.wustl.edu	37	7	21639564	21639564	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:21639564T>C	ENST00000409508.3	+	15	2858	c.2827T>C	c.(2827-2829)Ttt>Ctt	p.F943L	DNAH11_ENST00000328843.6_Missense_Mutation_p.F943L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	943	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGGCACCGTTTTTTCAAGC	0.408									Kartagener syndrome																																								0													85.0	80.0	82.0					7																	21639564		1844	4086	5930	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2827T>C	7.37:g.21639564T>C	ENSP00000475939:p.Phe943Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F943L	ENST00000409508.3	37	c.2827		7	.	.	.	.	.	.	.	.	.	.	T	0.796	-0.757279	0.03019	.	.	ENSG00000105877	ENST00000328843	T	0.16196	2.36	5.58	3.18	0.36537	.	0.443923	0.25558	N	0.029853	T	0.06234	0.0161	.	.	.	0.32208	N	0.576957	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	9	0.02654	T	1	.	6.6804	0.23117	0.0:0.1398:0.1307:0.7295	.	943	Q96DT5	DYH11_HUMAN	L	943	ENSP00000330671:F943L	ENSP00000330671:F943L	F	+	1	0	DNAH11	21606089	0.666000	0.27475	0.954000	0.39281	0.329000	0.28539	1.055000	0.30467	0.480000	0.27534	0.459000	0.35465	TTT	DNAH11	-	NULL		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	T	NM_003777		21639564	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	0.826	C
DPYSL5	56896	genome.wustl.edu	37	2	27165488	27165488	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:27165488T>C	ENST00000288699.6	+	11	1468	c.1310T>C	c.(1309-1311)cTg>cCg	p.L437P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.L437P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	437					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTGCCACTGGTCACCATC	0.632											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58.0	53.0	55.0					2																	27165488		2203	4300	6503	SO:0001583	missense	56896			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1310T>C	2.37:g.27165488T>C	ENSP00000288699:p.Leu437Pro	Somatic	792	WXS	Illumina HiSeq	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L437P	ENST00000288699.6	37	c.1310	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640735	0.87859	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85773	-2.03;-2.03	6.08	6.08	0.98989	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	M	0.87180	2.865	0.80722	D	1	D	0.56521	0.976	P	0.50860	0.652	D	0.89961	0.4086	10	0.35671	T	0.21	-17.1377	15.6264	0.76863	0.0:0.0:0.0:1.0	.	437	Q9BPU6	DPYL5_HUMAN	P	437	ENSP00000288699:L437P;ENSP00000385549:L437P	ENSP00000288699:L437P	L	+	2	0	DPYSL5	27018992	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.224000	0.72265	2.333000	0.79357	0.533000	0.62120	CTG	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.632	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	T	NM_020134		27165488	+1	no_errors	ENST00000288699	ensembl	human	known	70_37	missense	SNP	1.000	C
RP11-764K9.1	0	genome.wustl.edu	37	9	68400387	68400387	+	lincRNA	DEL	C	C	-	rs111626719		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr9:68400387delC	ENST00000417843.2	-	0	1432																											GATCTGGGGTCCTCTGATGAG	0.542																																																	0																																												0																															9.37:g.68400387delC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-		0.542	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	C			68400387	-1	no_errors	ENST00000417843	ensembl	human	known	70_37	rna	DEL	0.103	-
FLNC	2318	genome.wustl.edu	37	7	128494890	128494890	+	Silent	SNP	T	T	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:128494890T>C	ENST00000325888.8	+	42	7320	c.7059T>C	c.(7057-7059)ggT>ggC	p.G2353G	FLNC_ENST00000346177.6_Silent_p.G2320G|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2353					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTGGAGGGTCCTAGCAAAG	0.617																																																	0													88.0	98.0	94.0					7																	128494890		2055	4206	6261	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7059T>C	7.37:g.128494890T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G2353	ENST00000325888.8	37	c.7059	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	T			128494890	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	0.270	C
GOPC	57120	genome.wustl.edu	37	6	117888189	117888189	+	Silent	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr6:117888189C>T	ENST00000368498.2	-	8	1161	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000052569.6_Silent_p.E354E|GOPC_ENST00000535237.1_Silent_p.E362E|GOPC_ENST00000467125.1_5'UTR	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	362	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CAAATTCAATCTCTCCTCTCT	0.363			O	ROS1	glioblastoma																																			Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0													83.0	72.0	76.0					6																	117888189		2203	4300	6503	SO:0001819	synonymous_variant	57120			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.1086G>A	6.37:g.117888189C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM30|Q59FS4|Q969U8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E362	ENST00000368498.2	37	c.1086	CCDS5117.1	6																																																																																			GOPC	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.363	GOPC-002	KNOWN	basic|CCDS	protein_coding	GOPC	HGNC	protein_coding	OTTHUMT00000041988.1	C	NM_020399		117888189	-1	no_errors	ENST00000368498	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR56	9289	genome.wustl.edu	37	16	57689404	57689406	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr16:57689404_57689406delCTC	ENST00000388812.4	+	6	1302_1304	c.862_864delCTC	c.(862-864)ctcdel	p.L290del	GPR56_ENST00000568908.1_In_Frame_Del_p.L290del|GPR56_ENST00000538815.1_In_Frame_Del_p.L290del|GPR56_ENST00000388813.5_In_Frame_Del_p.L290del|GPR56_ENST00000567835.1_In_Frame_Del_p.L290del|GPR56_ENST00000562558.1_In_Frame_Del_p.L290del|GPR56_ENST00000568909.1_In_Frame_Del_p.L290del|GPR56_ENST00000379694.4_In_Frame_Del_p.L120del|GPR56_ENST00000456916.1_In_Frame_Del_p.L290del|GPR56_ENST00000544297.1_In_Frame_Del_p.L115del|GPR56_ENST00000540164.2_In_Frame_Del_p.L290del|GPR56_ENST00000562631.1_In_Frame_Del_p.L290del|GPR56_ENST00000379696.3_In_Frame_Del_p.L290del			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	290					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGAGAAGAGACTCCTCCTGGTGG	0.576																																																	0																																										SO:0001651	inframe_deletion	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.862_864delCTC	16.37:g.57689407_57689409delCTC	ENSP00000373464:p.Leu290del	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	In_Frame_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like	p.L290in_frame_del	ENST00000388812.4	37	c.862_864	CCDS32460.1	16																																																																																			GPR56	-	NULL		0.576	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	CTC			57689406	+1	no_errors	ENST00000379696	ensembl	human	known	70_37	in_frame_del	DEL	0.976:0.981:0.964	-
HAUS5	23354	genome.wustl.edu	37	19	36103778	36103778	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:36103778G>A	ENST00000203166.5	+	1	107	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	HAUS5_ENST00000379045.2_Missense_Mutation_p.E28K|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	28					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCGGGCCCCGGAATCGACGCT	0.682																																																	0													14.0	24.0	21.0					19																	36103778		1447	3151	4598	SO:0001583	missense	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.82G>A	19.37:g.36103778G>A	ENSP00000439056:p.Glu28Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.E28K	ENST00000203166.5	37	c.82	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599945	0.46318	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33438	1.41;1.41	4.29	4.29	0.51040	.	0.114294	0.56097	D	0.000023	T	0.52322	0.1727	M	0.69823	2.125	0.41623	D	0.98897	D	0.67145	0.996	D	0.77557	0.99	T	0.54735	-0.8249	10	0.66056	D	0.02	-33.4015	12.5411	0.56169	0.0:0.0:1.0:0.0	.	28	O94927	HAUS5_HUMAN	K	28	ENSP00000439056:E28K;ENSP00000444373:E28K	ENSP00000439056:E28K	E	+	1	0	HAUS5	40795618	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	3.605000	0.54088	2.668000	0.90789	0.655000	0.94253	GAA	HAUS5	-	NULL		0.682	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	G			36103778	+1	no_errors	ENST00000203166	ensembl	human	known	70_37	missense	SNP	0.999	A
HLA-DRB5	3127	genome.wustl.edu	37	6	32487265	32487265	+	Missense_Mutation	SNP	C	C	G	rs139485758	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr6:32487265C>G	ENST00000374975.3	-	3	596	c.534G>C	c.(532-534)caG>caC	p.Q178H		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.Q178H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						AGTCTCCATTCTGAATCAGGC	0.552													C|||	836	0.166933	0.2224	0.1326	5008	,	,		15097	0.1667		0.1531	False		,,,				2504	0.1309																1	Substitution - Missense(1)	NS(1)											61.0	68.0	65.0					6																	32487265		1933	3889	5822	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.534G>C	6.37:g.32487265C>G	ENSP00000364114:p.Gln178His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.Q178H	ENST00000374975.3	37	c.534	CCDS4751.1	6	.	.	.	.	.	.	.	.	.	.	.	2.451	-0.326294	0.05350	.	.	ENSG00000198502	ENST00000374975	T	0.14391	2.51	4.6	-9.19	0.00685	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.115120	0.06656	N	0.763651	T	0.02193	0.0068	L	0.35487	1.065	0.80722	P	0.0	B;B	0.19445	0.036;0.003	B;B	0.33690	0.168;0.014	T	0.35871	-0.9771	9	0.35671	T	0.21	.	1.7649	0.03000	0.2235:0.402:0.1926:0.1818	.	105;178	Q29973;Q30154	.;DRB5_HUMAN	H	178	ENSP00000364114:Q178H	ENSP00000364114:Q178H	Q	-	3	2	HLA-DRB5	32595243	0.000000	0.05858	0.000000	0.03702	0.495000	0.33615	-4.437000	0.00234	-3.808000	0.00104	-0.273000	0.10243	CAG	HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.552	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	C	NM_002125		32487265	-1	no_errors	ENST00000374975	ensembl	human	known	70_37	missense	SNP	0.000	G
HRC	3270	genome.wustl.edu	37	19	49657003	49657003	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:49657003C>T	ENST00000252825.4	-	1	1678	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	HRC_ENST00000595625.1_Missense_Mutation_p.D498N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	498					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTTCATCGTCTTCCTCATGG	0.552																																					Melanoma(37;75 1097 24567 25669 30645)												0													128.0	111.0	117.0					19																	49657003		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1492G>A	19.37:g.49657003C>T	ENSP00000252825:p.Asp498Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.D498N	ENST00000252825.4	37	c.1492	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888752	0.33348	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.60548	0.18	2.63	2.63	0.31362	.	.	.	.	.	T	0.48750	0.1517	L	0.27053	0.805	0.27082	N	0.963051	P	0.51791	0.948	P	0.49528	0.614	T	0.29640	-1.0005	9	0.31617	T	0.26	-3.9595	8.8912	0.35434	0.0:1.0:0.0:0.0	.	498	P23327	SRCH_HUMAN	N	498;197	ENSP00000252825:D498N	ENSP00000252825:D498N	D	-	1	0	HRC	54348815	0.041000	0.20044	0.502000	0.27614	0.114000	0.19823	1.451000	0.35145	1.799000	0.52666	0.462000	0.41574	GAC	HRC	-	NULL		0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657003	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPA2	3306	genome.wustl.edu	37	14	65008081	65008081	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr14:65008081C>A	ENST00000394709.1	+	2	590	c.514C>A	c.(514-516)Cgc>Agc	p.R172S	HSPA2_ENST00000554883.1_3'UTR|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.R172S			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	172					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAATGTGCTGCGCATCATCAA	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)												0													54.0	56.0	55.0					14																	65008081		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.514C>A	14.37:g.65008081C>A	ENSP00000378199:p.Arg172Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R172S	ENST00000394709.1	37	c.514	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339320	0.41398	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.03181	4.02;4.02	5.18	4.25	0.50352	.	0.000000	0.51477	U	0.000092	T	0.18923	0.0454	H	0.99634	4.67	0.47094	D	0.999311	P	0.34629	0.46	B	0.33690	0.168	T	0.41502	-0.9505	10	0.87932	D	0	-10.6877	15.0382	0.71767	0.1428:0.8572:0.0:0.0	.	172	P54652	HSP72_HUMAN	S	172	ENSP00000378199:R172S;ENSP00000247207:R172S	ENSP00000247207:R172S	R	+	1	0	HSPA2	64077834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.950000	0.40323	2.407000	0.81776	0.563000	0.77884	CGC	HSPA2	-	pfam_Hsp_70_fam,pfam_MreB_Mrl		0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	C			65008081	+1	no_errors	ENST00000247207	ensembl	human	known	70_37	missense	SNP	1.000	A
EFCAB14	9813	genome.wustl.edu	37	1	47144274	47144274	+	Silent	SNP	G	G	A	rs376760911		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:47144274G>A	ENST00000371933.3	-	11	2323	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	449	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)										TCCCATCCACGTCCTGGCCAG	0.418																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	84.0	86.0	85.0		1347	-5.3	0.1	1		85	0,8600		0,0,4300	no	coding-synonymous	KIAA0494	NM_014774.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		449/496	47144274	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9813			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1347C>T	1.37:g.47144274G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ23|Q5SXB8	Silent	SNP	pfscan_EF_HAND_2	p.D449	ENST00000371933.3	37	c.1347	CCDS30706.1	1																																																																																			KIAA0494	-	pfscan_EF_HAND_2		0.418	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0494	HGNC	protein_coding	OTTHUMT00000021931.1	G	NM_014774		47144274	-1	no_errors	ENST00000371933	ensembl	human	known	70_37	silent	SNP	0.002	A
IPO9	55705	genome.wustl.edu	37	1	201839837	201839837	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:201839837C>T	ENST00000361565.4	+	18	2329	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	754					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTGGACCCCCGCACCTCAGA	0.582																																																	0													91.0	81.0	84.0					1																	201839837		2203	4300	6503	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2260C>T	1.37:g.201839837C>T	ENSP00000354742:p.Arg754Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R754C	ENST00000361565.4	37	c.2260	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.344421	0.95807	.	.	ENSG00000198700	ENST00000361565	T	0.67345	-0.26	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.50490	0.642	T	0.71994	-0.4424	10	0.66056	D	0.02	-3.9361	17.091	0.86622	0.0:1.0:0.0:0.0	.	754	Q96P70	IPO9_HUMAN	C	754	ENSP00000354742:R754C	ENSP00000354742:R754C	R	+	1	0	IPO9	200106460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.659000	0.54489	2.629000	0.89072	0.591000	0.81541	CGC	IPO9	-	superfamily_ARM-type_fold		0.582	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	C	NM_018085		201839837	+1	no_errors	ENST00000361565	ensembl	human	known	70_37	missense	SNP	1.000	T
IKBKE	9641	genome.wustl.edu	37	1	206651130	206651130	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:206651130C>T	ENST00000367120.3	+	8	1113	c.740C>T	c.(739-741)gCa>gTa	p.A247V	IKBKE_ENST00000537984.1_Missense_Mutation_p.A162V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGGGCCATTGCAGGTGCCCAG	0.662																																																	0													13.0	14.0	14.0					1																	206651130		2187	4281	6468	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.740C>T	1.37:g.206651130C>T	ENSP00000356087:p.Ala247Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	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.A247V	ENST00000367120.3	37	c.740	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876326	0.72180	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.61859	1.0;0.07	4.87	4.87	0.63330	Protein kinase, catalytic domain (1);	0.246361	0.39687	N	0.001288	T	0.68311	0.2987	L	0.42581	1.335	0.45354	D	0.998345	D;D	0.63046	0.988;0.992	P;D	0.63703	0.836;0.917	T	0.69716	-0.5070	10	0.49607	T	0.09	-4.8482	18.0149	0.89236	0.0:1.0:0.0:0.0	.	162;247	Q3B754;Q14164	.;IKKE_HUMAN	V	247;162	ENSP00000356087:A247V;ENSP00000444529:A162V	ENSP00000356087:A247V	A	+	2	0	IKBKE	204717753	0.999000	0.42202	0.032000	0.17829	0.090000	0.18270	5.908000	0.69916	2.246000	0.74042	0.561000	0.74099	GCA	IKBKE	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.662	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	C			206651130	+1	no_errors	ENST00000367120	ensembl	human	known	70_37	missense	SNP	0.978	T
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
LACTBL1	646262	genome.wustl.edu	37	1	23285272	23285272	+	Silent	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:23285272G>A	ENST00000426928.2	-	4	458	c.459C>T	c.(457-459)gcC>gcT	p.A153A				A8MY62	BLML_HUMAN	lactamase, beta-like 1	124																	CCTGCTGTTCGGCTGATGCCA	0.642																																																	0																																										SO:0001819	synonymous_variant	646262					1p36.12	2010-07-20			ENSG00000215906	ENSG00000215906			35445	protein-coding gene	gene with protein product							Standard	XM_003846622		Approved			A8MY62	OTTHUMG00000003228	ENST00000426928.2:c.459C>T	1.37:g.23285272G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.A153	ENST00000426928.2	37	c.459		1	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.165298	0.01673	.	.	ENSG00000215906	ENST00000426928	.	.	.	5.28	-9.71	0.00518	.	.	.	.	.	T	0.36166	0.0957	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42916	-0.9423	3	.	.	.	-11.4124	12.4234	0.55532	0.714:0.0929:0.193:0.0	.	.	.	.	L	142	.	.	P	-	2	0	LACTBL1	23157859	0.927000	0.31430	0.000000	0.03702	0.007000	0.05969	0.190000	0.17057	-2.459000	0.00537	-3.976000	0.00014	CCG	LACTBL1	-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like		0.642	LACTBL1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LACTBL1	HGNC	protein_coding	OTTHUMT00000008903.4	G	XM_002342035.1		23285272	-1	no_errors	ENST00000426928	ensembl	human	putative	70_37	silent	SNP	0.000	A
LMAN1	3998	genome.wustl.edu	37	18	57000397	57000397	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr18:57000397G>T	ENST00000251047.5	-	11	2017	c.1300C>A	c.(1300-1302)Cag>Aag	p.Q434K		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	434					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATGAAGTGCTGTGTTGTCTCA	0.433																																																	0													87.0	81.0	83.0					18																	57000397		2203	4300	6503	SO:0001583	missense	3998			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1300C>A	18.37:g.57000397G>T	ENSP00000251047:p.Gln434Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily	p.Q434K	ENST00000251047.5	37	c.1300	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946871	0.34377	.	.	ENSG00000074695	ENST00000251047	T	0.55930	0.49	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.61703	1.905	0.80722	D	1	B	0.32350	0.366	B	0.24269	0.052	T	0.45585	-0.9251	10	0.21014	T	0.42	-16.4785	19.8132	0.96556	0.0:0.0:1.0:0.0	.	434	P49257	LMAN1_HUMAN	K	434	ENSP00000251047:Q434K	ENSP00000251047:Q434K	Q	-	1	0	LMAN1	55151377	1.000000	0.71417	0.966000	0.40874	0.052000	0.14988	9.434000	0.97515	2.785000	0.95823	0.655000	0.94253	CAG	LMAN1	-	NULL		0.433	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	G	NM_005570		57000397	-1	no_errors	ENST00000251047	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC00839	84856	genome.wustl.edu	37	10	42972815	42972815	+	lincRNA	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr10:42972815C>T	ENST00000429940.2	+	0	445					NR_026827.1				long intergenic non-protein coding RNA 839																		TTCCGCTGCGCGTCCTCCCAG	0.647																																																	0																																												84856					10q11.21	2012-12-20			ENSG00000185904	ENSG00000185904		"""Long non-coding RNAs"""	28269	protein-coding gene	gene with protein product						12477932	Standard	NR_026827		Approved		uc001izy.3		OTTHUMG00000018010		10.37:g.42972815C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429940.2	37	NULL		10																																																																																			RP11-178A10.1	-	-		0.647	LINC00839-001	KNOWN	basic	lincRNA	LOC84856	Clone_based_vega_gene	lincRNA	OTTHUMT00000047672.2	C	NR_026827		42972815	+1	no_errors	ENST00000332123	ensembl	human	known	70_37	rna	SNP	0.023	T
LOR	4014	genome.wustl.edu	37	1	153233506	153233506	+	Silent	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:153233506C>T	ENST00000368742.3	+	2	138	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	27					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G27G(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcggtggcggcggcagcggcg	0.682																																																	1	Substitution - coding silent(1)	lung(1)											8.0	10.0	9.0					1																	153233506		2045	4027	6072	SO:0001819	synonymous_variant	4014			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.81C>T	1.37:g.153233506C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T869|Q5XKF8	Silent	SNP	NULL	p.G27	ENST00000368742.3	37	c.81	CCDS30870.1	1																																																																																			LOR	-	NULL		0.682	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	HGNC	protein_coding	OTTHUMT00000039107.1	C	NM_000427		153233506	+1	no_errors	ENST00000368742	ensembl	human	known	70_37	silent	SNP	0.000	T
LRBA	987	genome.wustl.edu	37	4	151818937	151818937	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr4:151818937G>C	ENST00000357115.3	-	15	2201	c.1958C>G	c.(1957-1959)tCt>tGt	p.S653C	LRBA_ENST00000507224.1_Missense_Mutation_p.S653C|LRBA_ENST00000510413.1_Missense_Mutation_p.S653C|LRBA_ENST00000535741.1_Missense_Mutation_p.S653C	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	653						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTCGTAGAGAAAGCATTTC	0.328																																																	0													85.0	80.0	81.0					4																	151818937		2202	4300	6502	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1958C>G	4.37:g.151818937G>C	ENSP00000349629:p.Ser653Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S653C	ENST00000357115.3	37	c.1958	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980957	0.92982	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71375	0.3332	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.981;0.998	T	0.72918	-0.4146	10	0.87932	D	0	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	653;653	P50851;P50851-2	LRBA_HUMAN;.	C	653	ENSP00000446299:S653C;ENSP00000421552:S653C;ENSP00000349629:S653C;ENSP00000422180:S653C	ENSP00000349629:S653C	S	-	2	0	LRBA	152038387	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.232000	0.95325	2.747000	0.94245	0.585000	0.79938	TCT	LRBA	-	superfamily_ARM-type_fold		0.328	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151818937	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	missense	SNP	1.000	C
LRIF1	55791	genome.wustl.edu	37	1	111490913	111490913	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:111490913C>G	ENST00000369763.4	-	4	2368	c.1978G>C	c.(1978-1980)Gtc>Ctc	p.V660L	LRIF1_ENST00000494675.1_Missense_Mutation_p.V124L|LRIF1_ENST00000485275.2_Missense_Mutation_p.V124L|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAACCGGTGACATTAGCTTCC	0.363																																																	0													262.0	230.0	241.0					1																	111490913		2203	4300	6503	SO:0001583	missense	55791			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1978G>C	1.37:g.111490913C>G	ENSP00000358778:p.Val660Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.V660L	ENST00000369763.4	37	c.1978	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.231658	0.01505	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.31247	1.91;1.5;1.5	5.72	1.56	0.23342	.	0.833592	0.10417	N	0.677182	T	0.05823	0.0152	L	0.31926	0.97	0.09310	N	0.999993	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.002	T	0.40021	-0.9585	10	0.11485	T	0.65	3.3161	3.0279	0.06097	0.1459:0.5487:0.1417:0.1637	.	124;660	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	L	660;124;124	ENSP00000358778:V660L;ENSP00000435259:V124L;ENSP00000432290:V124L	ENSP00000358778:V660L	V	-	1	0	LRIF1	111292436	0.000000	0.05858	0.278000	0.24718	0.018000	0.09664	-0.134000	0.10436	0.760000	0.33108	0.591000	0.81541	GTC	LRIF1	-	NULL		0.363	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRIF1	HGNC	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111490913	-1	no_errors	ENST00000369763	ensembl	human	known	70_37	missense	SNP	0.223	G
MAGEH1	28986	genome.wustl.edu	37	X	55479014	55479014	+	Silent	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:55479014G>A	ENST00000342972.1	+	1	477	c.207G>A	c.(205-207)tcG>tcA	p.S69S	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	69	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AAGAAGCCTCGAGCACTGCCC	0.582																																																	0													38.0	35.0	36.0					X																	55479014		2203	4300	6503	SO:0001819	synonymous_variant	28986			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.207G>A	X.37:g.55479014G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S69	ENST00000342972.1	37	c.207	CCDS14369.1	X																																																																																			MAGEH1	-	pfam_MAGE		0.582	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	G	NM_014061		55479014	+1	no_errors	ENST00000342972	ensembl	human	known	70_37	silent	SNP	0.006	A
MCF2L2	23101	genome.wustl.edu	37	3	183041027	183041027	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr3:183041027C>T	ENST00000328913.3	-	6	896	c.599G>A	c.(598-600)cGc>cAc	p.R200H	MCF2L2_ENST00000447025.2_Missense_Mutation_p.R200H|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R200H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R200H	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	200							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACTCACAGTGCGGTGATTTAC	0.517																																																	0													121.0	116.0	117.0					3																	183041027		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.599G>A	3.37:g.183041027C>T	ENSP00000328118:p.Arg200His	Somatic		WXS	Illumina HiSeq	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R200H	ENST00000328913.3	37	c.599	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801346	0.90538	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.56	4.68	0.58851	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.89414	3.03	0.42127	D	0.991459	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.87578	0.998;0.998;0.848	T	0.65899	-0.6056	10	0.87932	D	0	.	13.0232	0.58800	0.0:0.921:0.0:0.079	.	200;200;200	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	H	200	ENSP00000328118:R200H;ENSP00000420070:R200H;ENSP00000388190:R200H;ENSP00000414131:R200H	ENSP00000328118:R200H	R	-	2	0	MCF2L2	184523721	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	5.614000	0.67695	1.341000	0.45600	0.655000	0.94253	CGC	MCF2L2	-	NULL		0.517	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		183041027	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	1.000	T
MIR512-2	574459	genome.wustl.edu	37	19	54170018	54170018	+	RNA	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:54170018G>A	ENST00000384912.1	+	0	0				MIR512-1_ENST00000384913.1_RNA	NR_030180.1|NR_030181.1				microRNA 512-2																		TGACTGAGGCGAGCACCGAAG	0.572																																																	0													55.0	48.0	50.0					19																	54170018		1568	3577	5145			574458					19q13.42	2011-09-12		2008-12-18	ENSG00000207644	ENSG00000207644		"""ncRNAs / Micro RNAs"""	32091	non-coding RNA	RNA, micro				MIRN512-2			Standard	NR_030181		Approved	hsa-mir-512-2	uc021uzj.1				19.37:g.54170018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384912.1	37	NULL		19																																																																																			MIR512-1	-	-		0.572	MIR512-2-201	KNOWN	basic	miRNA	MIR512-1	HGNC	miRNA		G	NR_030181		54170018	+1	no_errors	ENST00000384913	ensembl	human	known	70_37	rna	SNP	0.182	A
MS4A3	932	genome.wustl.edu	37	11	59828645	59828645	+	Silent	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:59828645C>T	ENST00000278865.3	+	2	85	c.12C>T	c.(10-12)caC>caT	p.H4H	MS4A3_ENST00000358152.2_Silent_p.H4H|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Silent_p.H4H|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	4						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGCCTCCCACGAAGTTGATA	0.483																																																	0													77.0	78.0	78.0					11																	59828645		2201	4295	6496	SO:0001819	synonymous_variant	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.12C>T	11.37:g.59828645C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTP8|Q8NHW2	Silent	SNP	pfam_CD20-like	p.H4	ENST00000278865.3	37	c.12	CCDS31567.1	11																																																																																			MS4A3	-	NULL		0.483	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A3	HGNC	protein_coding	OTTHUMT00000394417.1	C			59828645	+1	no_errors	ENST00000278865	ensembl	human	known	70_37	silent	SNP	0.000	T
NBPF10	100132406	genome.wustl.edu	37	1	145323656	145323656	+	Missense_Mutation	SNP	A	A	T	rs75252120	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:145323656A>T	ENST00000342960.5	+	27	3528	c.3493A>T	c.(3493-3495)Att>Ttt	p.I1165F	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I1165F(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATTGCAGGAATTAAAAAGGA	0.473																																																	3	Substitution - Missense(3)	endometrium(2)|kidney(1)																																								SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3493A>T	1.37:g.145323656A>T	ENSP00000345684:p.Ile1165Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.I1165F	ENST00000342960.5	37	c.3493	CCDS53355.1	1	.	.	.	.	.	.	.	.	.	.	.	7.524	0.657305	0.14580	.	.	ENSG00000163386	ENST00000342960	T	0.03441	3.93	.	.	.	.	.	.	.	.	T	0.02342	0.0072	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.28530	T	0.3	.	.	.	.	.	.	.	.	F	1165	ENSP00000345684:I1165F	ENSP00000345684:I1165F	I	+	1	0	NBPF10	144035013	0.353000	0.24904	0.005000	0.12908	0.123000	0.20343	1.122000	0.31295	0.386000	0.24997	0.128000	0.15822	ATT	NBPF10	-	NULL		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding		A	NM_001039703		145323656	+1	no_errors	ENST00000342960	ensembl	human	known	70_37	missense	SNP	0.007	T
NBR2	10230	genome.wustl.edu	37	17	41296946	41296946	+	RNA	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr17:41296946C>T	ENST00000460115.1	+	0	1160					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		CAGCAGGCACCTGGCACCCAC	0.647																																																	0																																												10230			U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41296946C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3LRJ7	RNA	SNP	-	NULL	ENST00000460115.1	37	NULL		17																																																																																			NBR2	-	-		0.647	NBR2-001	KNOWN	basic	processed_transcript	NBR2	HGNC	pseudogene	OTTHUMT00000277175.1	C	NR_003108		41296946	+1	no_errors	ENST00000460115	ensembl	human	known	70_37	rna	SNP	0.011	T
NELL1	4745	genome.wustl.edu	37	11	20691274	20691274	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:20691274C>T	ENST00000357134.5	+	1	157	c.5C>T	c.(4-6)cCg>cTg	p.P2L	RP11-701I24.3_ENST00000528795.1_RNA|NELL1_ENST00000325319.5_Missense_Mutation_p.P2L|NELL1_ENST00000532434.1_Missense_Mutation_p.P2L|NELL1_ENST00000298925.5_Missense_Mutation_p.P2L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	2					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGCGATGCCGATGGATTTG	0.597																																																	0													151.0	131.0	138.0					11																	20691274		2203	4300	6503	SO:0001583	missense	4745			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.5C>T	11.37:g.20691274C>T	ENSP00000349654:p.Pro2Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.P2L	ENST00000357134.5	37	c.5	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599046	0.28534	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;T;T;T	0.88975	-2.45;-1.18;-1.25;-1.09	3.68	-0.412	0.12367	.	0.087891	0.44688	N	0.000432	D	0.82861	0.5129	L	0.57536	1.79	0.28349	N	0.920998	B;B;B;B	0.25169	0.119;0.072;0.004;0.072	B;B;B;B	0.14578	0.011;0.007;0.002;0.005	T	0.74077	-0.3781	10	0.87932	D	0	-0.352	6.9013	0.24285	0.0:0.5907:0.0:0.4093	.	2;2;2;2	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	2	ENSP00000298925:P2L;ENSP00000349654:P2L;ENSP00000317837:P2L;ENSP00000437170:P2L	ENSP00000298925:P2L	P	+	2	0	NELL1	20647850	0.278000	0.24230	0.022000	0.16811	0.704000	0.40688	-0.094000	0.11094	-0.193000	0.10415	0.563000	0.77884	CCG	NELL1	-	NULL		0.597	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	C	NM_006157		20691274	+1	no_errors	ENST00000357134	ensembl	human	known	70_37	missense	SNP	0.356	T
NSMAF	8439	genome.wustl.edu	37	8	59520362	59520362	+	Missense_Mutation	SNP	C	C	T	rs199548636		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr8:59520362C>T	ENST00000038176.3	-	11	937	c.725G>A	c.(724-726)cGc>cAc	p.R242H	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.R273H	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	242	GRAM.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.R242H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTGTAGATGCGGCGGACATC	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19497	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											143.0	147.0	146.0					8																	59520362		2203	4300	6503	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.725G>A	8.37:g.59520362C>T	ENSP00000038176:p.Arg242His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R273H	ENST00000038176.3	37	c.818	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422484	0.62622	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.88586	-2.4;-2.4	5.18	4.31	0.51392	GRAM (2);PH-BEACH domain (1);	0.050607	0.85682	N	0.000000	D	0.93015	0.7777	M	0.72118	2.19	0.47698	D	0.999493	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.975;0.965;0.991	D	0.92550	0.6049	9	.	.	.	.	12.3688	0.55244	0.0:0.9218:0.0:0.0782	.	273;242;242	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	H	242;273	ENSP00000038176:R242H;ENSP00000411012:R273H	.	R	-	2	0	NSMAF	59682916	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	5.221000	0.65272	1.321000	0.45227	-0.140000	0.14226	CGC	NSMAF	-	pfam_GRAM,smart_GRAM		0.443	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	C	NM_003580		59520362	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	1.000	T
OR4K1	79544	genome.wustl.edu	37	14	20404680	20404680	+	Silent	SNP	C	C	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr14:20404680C>A	ENST00000285600.4	+	1	914	c.855C>A	c.(853-855)atC>atA	p.I285I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAACCCCATCATCTACTCTC	0.423																																																	0													98.0	107.0	104.0					14																	20404680		2203	4300	6503	SO:0001819	synonymous_variant	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.855C>A	14.37:g.20404680C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I285	ENST00000285600.4	37	c.855	CCDS32025.1	14																																																																																			OR4K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.423	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	C			20404680	+1	no_errors	ENST00000285600	ensembl	human	known	70_37	silent	SNP	0.994	A
OSBPL1A	114876	genome.wustl.edu	37	18	21750344	21750344	+	Missense_Mutation	SNP	C	C	T	rs146787158		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr18:21750344C>T	ENST00000319481.3	-	24	2571	c.2365G>A	c.(2365-2367)Gct>Act	p.A789T	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.A407T|RNA5SP452_ENST00000363004.1_RNA|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.A276T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	789					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTTTGTAAGCGTCAAACGTG	0.383																																																	0								C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	249.0	224.0	233.0		1219,826,2365	5.9	1.0	18	dbSNP_134	233	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	OSBPL1A	NM_001242508.1,NM_018030.4,NM_080597.3	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	407/569,276/438,789/951	21750344	2,13004	2203	4300	6503	SO:0001583	missense	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2365G>A	18.37:g.21750344C>T	ENSP00000320291:p.Ala789Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.A789T	ENST00000319481.3	37	c.2365	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733503	0.48939	0.0	2.33E-4	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.45276	0.9;0.96;0.92	5.89	5.89	0.94794	.	0.047946	0.85682	D	0.000000	T	0.29652	0.0740	N	0.20807	0.61	0.80722	D	1	P	0.48834	0.916	B	0.35312	0.2	T	0.09640	-1.0665	10	0.44086	T	0.13	-21.5042	20.2435	0.98387	0.0:1.0:0.0:0.0	.	789	Q9BXW6	OSBL1_HUMAN	T	789;276;407	ENSP00000320291:A789T;ENSP00000382372:A276T;ENSP00000349545:A407T	ENSP00000320291:A789T	A	-	1	0	OSBPL1A	20004342	0.995000	0.38212	0.982000	0.44146	0.867000	0.49689	3.274000	0.51631	2.784000	0.95788	0.650000	0.86243	GCT	OSBPL1A	-	pfam_Oxysterol-bd		0.383	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	C	NM_080597		21750344	-1	no_errors	ENST00000319481	ensembl	human	known	70_37	missense	SNP	0.997	T
PDXK	8566	genome.wustl.edu	37	21	45176055	45176055	+	3'UTR	SNP	C	C	G			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr21:45176055C>G	ENST00000291565.4	+	0	1233				PDXK_ENST00000467908.1_3'UTR|PDXK_ENST00000468090.1_3'UTR	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ATATTTTTTTCTTTCATGAGT	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	8566			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.*111C>G	21.37:g.45176055C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2Y0|Q9BS02	RNA	SNP	-	NULL	ENST00000291565.4	37	NULL	CCDS13699.1	21																																																																																			PDXK	-	-		0.453	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXK	HGNC	protein_coding	OTTHUMT00000195636.1	C	NM_003681		45176055	+1	no_errors	ENST00000343528	ensembl	human	known	70_37	rna	SNP	0.236	G
POLR1A	25885	genome.wustl.edu	37	2	86315726	86315727	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:86315726_86315727delCA	ENST00000263857.6	-	6	1070_1071	c.692_693delTG	c.(691-693)gtgfs	p.V231fs	POLR1A_ENST00000409681.1_Frame_Shift_Del_p.V231fs			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	231					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGTCCTGTGCACCATGGCTGG	0.564																																																	0																																										SO:0001589	frameshift_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.692_693delTG	2.37:g.86315726_86315727delCA	ENSP00000263857:p.Val231fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.V231fs	ENST00000263857.6	37	c.693_692	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_1		0.564	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	CA	NM_015425		86315727	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	frame_shift_del	DEL	0.981:0.984	-
RASGRF2	5924	genome.wustl.edu	37	5	80497154	80497154	+	Silent	SNP	C	C	T	rs371857641		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:80497154C>T	ENST00000265080.4	+	19	2866	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	933					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TACAGGATTTCGAACTCAACA	0.368																																																	0								C		0,4406		0,0,2203	58.0	67.0	64.0		2799	-1.0	1.0	5		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RASGRF2	NM_006909.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		933/1238	80497154	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2799C>T	5.37:g.80497154C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG89|Q9UK56	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F933	ENST00000265080.4	37	c.2799	CCDS4052.1	5																																																																																			RASGRF2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N		0.368	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	C	NM_006909		80497154	+1	no_errors	ENST00000265080	ensembl	human	known	70_37	silent	SNP	1.000	T
RHOB	388	genome.wustl.edu	37	2	20647696	20647697	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:20647696_20647697insTG	ENST00000272233.4	+	1	862_863	c.470_471insTG	c.(469-474)ctcgagfs	p.E158fs		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	158					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	TACGACTACCTCGAGTGCTCTG	0.668																																																	0																																										SO:0001589	frameshift_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	Exception_encountered	2.37:g.20647696_20647697insTG	ENSP00000272233:p.Glu158fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E158fs	ENST00000272233.4	37	c.470_471	CCDS1699.1	2																																																																																			RHOB	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.668	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOB	HGNC	protein_coding	OTTHUMT00000207500.1	-	NM_004040		20647697	+1	no_errors	ENST00000272233	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TG
RHOB	388	genome.wustl.edu	37	2	20647697	20647697	+	Silent	SNP	C	C	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:20647697C>A	ENST00000272233.4	+	1	863	c.471C>A	c.(469-471)ctC>ctA	p.L157L		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	157					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	ACGACTACCTCGAGTGCTCTG	0.667																																																	0													69.0	71.0	70.0					2																	20647697		2200	4289	6489	SO:0001819	synonymous_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.471C>A	2.37:g.20647697C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L157	ENST00000272233.4	37	c.471	CCDS1699.1	2																																																																																			RHOB	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.667	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOB	HGNC	protein_coding	OTTHUMT00000207500.1	C	NM_004040		20647697	+1	no_errors	ENST00000272233	ensembl	human	known	70_37	silent	SNP	1.000	A
RIN2	54453	genome.wustl.edu	37	20	19977442	19977442	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr20:19977442C>T	ENST00000255006.6	+	11	2616	c.2467C>T	c.(2467-2469)Cgg>Tgg	p.R823W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.R341W	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	774	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GTGGCACAAACGGAGAACCAC	0.557																																																	0													69.0	82.0	78.0					20																	19977442		2081	4207	6288	SO:0001583	missense	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2467C>T	20.37:g.19977442C>T	ENSP00000255006:p.Arg823Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R823W	ENST00000255006.6	37	c.2467	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955088	0.73902	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.27402	2.64;1.67	5.74	1.15	0.20763	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.72894	2.215	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54931	-0.8219	9	.	.	.	-30.6228	15.5099	0.75772	0.6074:0.3926:0.0:0.0	.	341;774	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	W	823;341	ENSP00000255006:R823W;ENSP00000391239:R341W	.	R	+	1	2	RIN2	19925442	0.991000	0.36638	0.944000	0.38274	0.979000	0.70002	1.483000	0.35497	0.291000	0.22468	0.655000	0.94253	CGG	RIN2	-	NULL		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	C			19977442	+1	no_errors	ENST00000255006	ensembl	human	known	70_37	missense	SNP	0.779	T
RNF128	79589	genome.wustl.edu	37	X	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	rs146627932		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398																																																	0								G	ILE/VAL	1,3834		0,1,1631,571	174.0	147.0	156.0		157	5.0	1.0	X	dbSNP_134	156	1,6727		0,1,2427,1872	yes	missense	RNF128	NM_024539.3	29	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		53/403	105937389	2,10561	2203	4300	6503	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.157G>A	X.37:g.105937389G>A	ENSP00000316127:p.Val53Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V53I	ENST00000324342.3	37	c.157	CCDS14520.1	X	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979554	0.18812	2.61E-4	1.49E-4	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.30981	1.51;2.91	6.02	4.99	0.66335	.	.	.	.	.	T	0.13200	0.0320	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.27262	0.078	T	0.09618	-1.0666	9	0.17369	T	0.5	.	7.8295	0.29334	0.0971:0.2696:0.6333:0.0	.	53	Q8TEB7-2	.	I	26;53	ENSP00000412610:V26I;ENSP00000316127:V53I	ENSP00000316127:V53I	V	+	1	0	RNF128	105824045	0.956000	0.32656	1.000000	0.80357	0.978000	0.69477	1.486000	0.35530	2.550000	0.86006	0.594000	0.82650	GTT	RNF128	-	NULL		0.398	RNF128-002	KNOWN	basic|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057805.1	G	NM_024539		105937389	+1	no_errors	ENST00000324342	ensembl	human	known	70_37	missense	SNP	0.981	A
RPA1	6117	genome.wustl.edu	37	17	1798346	1798346	+	Missense_Mutation	SNP	G	G	T	rs556414801		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr17:1798346G>T	ENST00000254719.5	+	16	1813	c.1703G>T	c.(1702-1704)cGa>cTa	p.R568L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	568					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GCCAACTTCCGATCTTTCATA	0.453								Nucleotide excision repair (NER)																																									0													169.0	175.0	173.0					17																	1798346		2203	4300	6503	SO:0001583	missense	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1703G>T	17.37:g.1798346G>T	ENSP00000254719:p.Arg568Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1	p.R568L	ENST00000254719.5	37	c.1703	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918963	0.33908	.	.	ENSG00000132383	ENST00000254719	T	0.46819	0.86	5.63	5.63	0.86233	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);Nucleic acid-binding, OB-fold (1);	0.271739	0.41712	D	0.000833	T	0.46229	0.1382	M	0.62154	1.92	0.35764	D	0.820371	P	0.40211	0.707	B	0.39562	0.303	T	0.58901	-0.7554	10	0.41790	T	0.15	-10.4733	12.0311	0.53397	0.0869:0.0:0.9131:0.0	.	568	P27694	RFA1_HUMAN	L	568	ENSP00000254719:R568L	ENSP00000254719:R568L	R	+	2	0	RPA1	1745096	0.991000	0.36638	0.271000	0.24616	0.364000	0.29643	3.123000	0.50453	2.664000	0.90586	0.650000	0.86243	CGA	RPA1	-	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like,tigrfam_Rep_factor_Rpa1		0.453	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	G	NM_002945		1798346	+1	no_errors	ENST00000254719	ensembl	human	known	70_37	missense	SNP	0.874	T
RPL3	6122	genome.wustl.edu	37	22	39708974	39708974	+	Missense_Mutation	SNP	C	C	T	rs145936719		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr22:39708974C>T	ENST00000216146.4	-	10	1356	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|SNORD83A_ENST00000386747.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.D343N	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	395					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GCAATTCGGTCTTTCTTCAGT	0.493																																																	0													72.0	68.0	69.0					22																	39708974		2203	4300	6503	SO:0001583	missense	6122			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1183G>A	22.37:g.39708974C>T	ENSP00000346001:p.Asp395Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.D395N	ENST00000216146.4	37	c.1183	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276423	0.80580	.	.	ENSG00000100316	ENST00000401609;ENST00000216146	T;T	0.34472	1.36;1.36	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.77616	2.38	0.80722	D	1	B;P	0.49358	0.005;0.923	B;P	0.44811	0.006;0.461	T	0.56032	-0.8046	10	0.56958	D	0.05	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	395;346	P39023;B3KS36	RL3_HUMAN;.	N	343;395	ENSP00000386101:D343N;ENSP00000346001:D395N	ENSP00000346001:D395N	D	-	1	0	RPL3	38038920	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.310000	0.78947	2.576000	0.86940	0.563000	0.77884	GAC	RPL3	-	NULL		0.493	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	C	NM_000967		39708974	-1	no_errors	ENST00000216146	ensembl	human	known	70_37	missense	SNP	1.000	T
SBK2	646643	genome.wustl.edu	37	19	56042597	56042597	+	Silent	SNP	G	G	A	rs200066533	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:56042597G>A	ENST00000413299.1	-	3	406	c.369C>T	c.(367-369)taC>taT	p.Y123Y	SBK2_ENST00000344158.3_Silent_p.Y123Y	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCAATGCCGTAGGCCGTCA	0.642																																																	0													48.0	55.0	52.0					19																	56042597		2165	4254	6419	SO:0001819	synonymous_variant	646643				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.369C>T	19.37:g.56042597G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y123	ENST00000413299.1	37	c.369	CCDS42631.1	19																																																																																			SBK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.642	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBK2	HGNC	protein_coding	OTTHUMT00000341919.1	G	NM_001101401		56042597	-1	no_errors	ENST00000344158	ensembl	human	known	70_37	silent	SNP	0.995	A
SDHC	6391	genome.wustl.edu	37	1	161326591	161326591	+	Silent	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:161326591C>T	ENST00000367975.2	+	5	515	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SDHC_ENST00000392169.2_Silent_p.F69F|SDHC_ENST00000432287.2_Silent_p.F88F|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	122					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CACTTGTCTTCCCTCTCATGT	0.483			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1q21	6391	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""		O	0													170.0	158.0	162.0					1																	161326591		2203	4300	6503	SO:0001819	synonymous_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.366C>T	1.37:g.161326591C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Silent	SNP	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556	p.F122	ENST00000367975.2	37	c.366	CCDS1230.1	1																																																																																			SDHC	-	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556		0.483	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHC	HGNC	protein_coding	OTTHUMT00000083316.2	C	NM_003001		161326591	+1	no_errors	ENST00000367975	ensembl	human	known	70_37	silent	SNP	0.903	T
SEC16B	89866	genome.wustl.edu	37	1	177906448	177906448	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:177906448G>A	ENST00000308284.6	-	19	2493	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	SEC16B_ENST00000495165.1_5'Flank|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	802					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGGTCTCAGGAACTGAGTAA	0.642																																																	0													49.0	56.0	53.0					1																	177906448		2003	4166	6169	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2404C>T	1.37:g.177906448G>A	ENSP00000308339:p.Pro802Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.P802S	ENST00000308284.6	37	c.2404	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145841	0.37923	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.20069	2.1	4.59	3.66	0.41972	.	0.393999	0.24841	N	0.035173	T	0.21761	0.0524	L	0.55481	1.735	0.23459	N	0.997633	P;P;P;B	0.43352	0.518;0.804;0.804;0.297	B;B;B;B	0.41412	0.255;0.356;0.356;0.172	T	0.07558	-1.0766	10	0.40728	T	0.16	-8.9788	10.8618	0.46831	0.0:0.1905:0.8095:0.0	.	357;803;802;499	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	S	802;486;517	ENSP00000308339:P802S	ENSP00000239472:P517S	P	-	1	0	AL359075.1	176173071	0.216000	0.23585	0.413000	0.26509	0.287000	0.27160	2.544000	0.45761	1.276000	0.44395	0.650000	0.86243	CCT	SEC16B	-	NULL		0.642	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	G	NM_033127		177906448	-1	no_errors	ENST00000308284	ensembl	human	known	70_37	missense	SNP	0.169	A
SIGLEC10	89790	genome.wustl.edu	37	19	51918459	51918459	+	Missense_Mutation	SNP	C	C	T	rs149017451	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr19:51918459C>T	ENST00000339313.5	-	7	1422	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V353I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V378I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V436I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V388I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V346I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V436I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V288I|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V378I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	436	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTGAGAGAGACGTGCTGGGAG	0.662													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18467	0.0		0.0	False		,,,				2504	0.0																0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	12,4394		0,12,2191	72.0	67.0	69.0		1132,1306,1162,1132,1057,862,1306	-5.3	0.0	19	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	29,29,29,29,29,29,29	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	benign,benign,benign,benign,benign,benign,benign	378/640,436/603,388/555,378/545,353/520,288/455,436/698	51918459	12,12994	2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1306G>A	19.37:g.51918459C>T	ENSP00000345243:p.Val436Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V436I	ENST00000339313.5	37	c.1306	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	3.438	-0.114727	0.06881	0.002724	0.0	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62;2.62	4.71	-5.27	0.02763	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.928840	0.02193	N	0.061509	T	0.05593	0.0147	N	0.17631	0.505	0.09310	N	1	B;B;B;P;B;B;B;B	0.38335	0.099;0.209;0.128;0.627;0.105;0.322;0.276;0.358	B;B;B;B;B;B;B;B	0.32393	0.055;0.104;0.055;0.087;0.032;0.056;0.022;0.145	T	0.29305	-1.0016	10	0.14252	T	0.57	.	1.2317	0.01944	0.1271:0.2826:0.2516:0.3386	.	388;346;436;288;436;378;378;436	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	436;353;288;436;378;346;378;388;436	ENSP00000342389:V436I;ENSP00000396742:V353I;ENSP00000395475:V288I;ENSP00000348646:V436I;ENSP00000408387:V378I;ENSP00000431444:V346I;ENSP00000389132:V378I;ENSP00000414324:V388I;ENSP00000345243:V436I	ENSP00000345243:V436I	V	-	1	0	SIGLEC10	56610271	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-3.093000	0.00608	-0.414000	0.07495	0.462000	0.41574	GTC	SIGLEC10	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.662	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51918459	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.000	T
SPAG6	9576	genome.wustl.edu	37	10	22634734	22634734	+	Silent	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr10:22634734G>A	ENST00000376624.3	+	2	250	c.108G>A	c.(106-108)acG>acA	p.T36T	SPAG6_ENST00000376603.2_Silent_p.T36T|SPAG6_ENST00000313311.6_Silent_p.T36T|SPAG6_ENST00000538630.1_De_novo_Start_OutOfFrame|SPAG6_ENST00000376601.1_Silent_p.T36T	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	36					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						ACATCGAGACGCTGCAGAACG	0.682																																																	0													41.0	39.0	40.0					10																	22634734		2201	4300	6501	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.108G>A	10.37:g.22634734G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.T36	ENST00000376624.3	37	c.108	CCDS7139.1	10																																																																																			SPAG6	-	NULL		0.682	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	G			22634734	+1	no_errors	ENST00000376603	ensembl	human	known	70_37	silent	SNP	0.093	A
SPTA1	6708	genome.wustl.edu	37	1	158641935	158641935	+	Missense_Mutation	SNP	G	G	A	rs565907779		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr1:158641935G>A	ENST00000368147.4	-	11	1582	c.1402C>T	c.(1402-1404)Cgt>Tgt	p.R468C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	468					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R468C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACGATGACGCTCGTCCCAC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											106.0	103.0	104.0					1																	158641935		1959	4157	6116	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1402C>T	1.37:g.158641935G>A	ENSP00000357129:p.Arg468Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R468C	ENST00000368147.4	37	c.1402	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830990	0.50845	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61510	0.1;0.1	5.0	4.08	0.47627	.	0.265080	0.20210	N	0.096925	T	0.54615	0.1869	M	0.79475	2.455	0.54753	D	0.999989	P	0.43024	0.798	P	0.47573	0.55	T	0.62263	-0.6891	10	0.66056	D	0.02	.	11.3638	0.49660	0.0894:0.0:0.9106:0.0	.	468	P02549	SPTA1_HUMAN	C	468	ENSP00000357130:R468C;ENSP00000357129:R468C	ENSP00000357129:R468C	R	-	1	0	SPTA1	156908559	1.000000	0.71417	0.116000	0.21606	0.064000	0.16182	5.648000	0.67930	1.300000	0.44818	0.655000	0.94253	CGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158641935	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	0.993	A
TAS2R14	50840	genome.wustl.edu	37	12	11230243	11230243	+	Intron	SNP	C	C	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr12:11230243C>A	ENST00000381852.4	-	2	152				TAS2R64P_ENST00000534866.1_RNA|PRR4_ENST00000536668.1_Intron			Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATGCAGAGAACAGATTAACAG	0.408																																																	0																																										SO:0001627	intron_variant	338412			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000381852.4:c.1511-30456G>T	12.37:g.11230243C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q645X3	RNA	SNP	-	NULL	ENST00000381852.4	37	NULL		12																																																																																			TAS2R64P	-	-		0.408	TAS2R14-002	KNOWN	basic	processed_transcript	TAS2R64P	HGNC	protein_coding	OTTHUMT00000402305.1	C	NM_023922		11230243	-1	no_errors	ENST00000534866	ensembl	human	known	70_37	rna	SNP	0.146	A
TBX20	57057	genome.wustl.edu	37	7	35293127	35293127	+	Silent	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:35293127C>T	ENST00000408931.3	-	1	631	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	35					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTGTGTTCTCCGTCGCCTCCT	0.652																																																	0													53.0	48.0	50.0					7																	35293127		2202	4300	6502	SO:0001819	synonymous_variant	57057			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.105G>A	7.37:g.35293127C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.T35	ENST00000408931.3	37	c.105	CCDS43568.1	7																																																																																			TBX20	-	NULL		0.652	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	C	NM_020417		35293127	-1	no_errors	ENST00000408931	ensembl	human	known	70_37	silent	SNP	0.796	T
TENM2	57451	genome.wustl.edu	37	5	167674062	167674062	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:167674062T>C	ENST00000518659.1	+	27	6157	c.6118T>C	c.(6118-6120)Ttc>Ctc	p.F2040L	TENM2_ENST00000403607.2_Missense_Mutation_p.F1864L|TENM2_ENST00000520394.1_Missense_Mutation_p.F1801L|TENM2_ENST00000519204.1_Missense_Mutation_p.F1919L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2039L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2040					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGCCGTCACCTTCGGGTATGA	0.542																																																	0													82.0	82.0	82.0					5																	167674062		1934	4135	6069	SO:0001583	missense	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6118T>C	5.37:g.167674062T>C	ENSP00000429430:p.Phe2040Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F2040L	ENST00000518659.1	37	c.6118		5	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740384	0.69304	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90004	-2.12;-2.11;-2.24;-2.57;-2.6	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.77616	2.38	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.982	D;D;D	0.87578	0.998;0.995;0.961	D	0.92947	0.6377	10	0.30854	T	0.27	.	15.4825	0.75539	0.0:0.0:0.0:1.0	.	2039;2040;1801	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2040;2039;1919;1801;1864	ENSP00000429430:F2040L;ENSP00000438635:F2039L;ENSP00000428964:F1919L;ENSP00000427874:F1801L;ENSP00000384905:F1864L	ENSP00000384905:F1864L	F	+	1	0	ODZ2	167606640	1.000000	0.71417	0.974000	0.42286	0.919000	0.55068	8.040000	0.89188	2.070000	0.61991	0.459000	0.35465	TTC	TENM2	-	superfamily_ConA-like_lec_gl_sf		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	T	NM_001122679		167674062	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	missense	SNP	1.000	C
THOC2	57187	genome.wustl.edu	37	X	122765673	122765673	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:122765673A>C	ENST00000245838.8	-	22	2378	c.2347T>G	c.(2347-2349)Ttt>Gtt	p.F783V	THOC2_ENST00000355725.4_Missense_Mutation_p.F783V|THOC2_ENST00000491737.1_Missense_Mutation_p.F668V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	783					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GATGCTAAAAACCCACCAAAC	0.323																																																	0													147.0	138.0	141.0					X																	122765673		1833	4082	5915	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2347T>G	X.37:g.122765673A>C	ENSP00000245838:p.Phe783Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.F783V	ENST00000245838.8	37	c.2347	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740991	0.89573	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	D	0.85492	0.5709	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	D	0.88660	0.3188	9	0.72032	D	0.01	-17.0397	15.3733	0.74584	1.0:0.0:0.0:0.0	.	708;783	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	783;783;668;708	.	ENSP00000245838:F783V	F	-	1	0	THOC2	122593354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.320000	0.96346	2.014000	0.59158	0.481000	0.45027	TTT	THOC2	-	NULL		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	A			122765673	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	missense	SNP	1.000	C
TMEM25	84866	genome.wustl.edu	37	11	118406231	118406231	+	3'UTR	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:118406231C>T	ENST00000313236.5	+	0	2090				TMEM25_ENST00000524725.1_3'UTR|TMEM25_ENST00000533102.1_Missense_Mutation_p.L345F|TMEM25_ENST00000359862.4_3'UTR|TMEM25_ENST00000354064.7_3'UTR|TMEM25_ENST00000411589.2_3'UTR|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000354284.4_Intron	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCATGTCTCCTCCACCACGG	0.572																																																	0																																										SO:0001624	3_prime_UTR_variant	84866			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.*936C>T	11.37:g.118406231C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.L345F	ENST00000313236.5	37	c.1033	CCDS8398.1	11	.	.	.	.	.	.	.	.	.	.	C	6.605	0.480062	0.12581	.	.	ENSG00000149582	ENST00000533102	T	0.22945	1.93	4.21	0.0809	0.14422	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.30090	-0.9990	8	0.87932	D	0	.	3.0903	0.06291	0.3704:0.4182:0.0:0.2114	.	345	E9PKP3	.	F	345	ENSP00000431548:L345F	ENSP00000431548:L345F	L	+	1	0	TMEM25	117911441	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.462000	0.06704	0.024000	0.15214	0.585000	0.79938	CTC	TMEM25	-	NULL		0.572	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM25	HGNC	protein_coding	OTTHUMT00000389266.1	C	NM_032780		118406231	+1	no_errors	ENST00000533102	ensembl	human	known	70_37	missense	SNP	0.000	T
TNPO3	23534	genome.wustl.edu	37	7	128612587	128612587	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr7:128612587G>T	ENST00000265388.5	-	19	2466	c.2323C>A	c.(2323-2325)Cct>Act	p.P775T	TNPO3_ENST00000471234.1_Missense_Mutation_p.P711T|TNPO3_ENST00000393245.1_Missense_Mutation_p.P809T|TNPO3_ENST00000482320.1_Missense_Mutation_p.P709T|TNPO3_ENST00000471166.1_Missense_Mutation_p.P809T|RN7SL306P_ENST00000492941.2_RNA			Q9Y5L0	TNPO3_HUMAN	transportin 3	775					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGTAAGATAGGGATGACCACT	0.488																																					Pancreas(147;583 2585 39696 52331)												0													106.0	90.0	95.0					7																	128612587		2203	4300	6503	SO:0001583	missense	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2323C>A	7.37:g.128612587G>T	ENSP00000265388:p.Pro775Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.P809T	ENST00000265388.5	37	c.2425	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227341	0.58668	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68479	-0.27;-0.27;-0.27;-0.33;-0.27	5.41	5.41	0.78517	Armadillo-type fold (1);	0.051363	0.85682	D	0.000000	T	0.56688	0.2002	L	0.42245	1.32	0.50632	D	0.999881	B;B;B;B	0.33413	0.094;0.411;0.015;0.009	B;B;B;B	0.30646	0.01;0.118;0.012;0.005	T	0.53968	-0.8363	10	0.10377	T	0.69	.	17.0431	0.86495	0.0:0.0:1.0:0.0	.	711;809;775;775	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	T	809;775;709;711;809	ENSP00000376936:P809T;ENSP00000265388:P775T;ENSP00000420089:P709T;ENSP00000418646:P711T;ENSP00000418267:P809T	ENSP00000265388:P775T	P	-	1	0	TNPO3	128399823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.676000	0.84012	2.686000	0.91538	0.655000	0.94253	CCT	TNPO3	-	superfamily_ARM-type_fold		0.488	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	G	NM_012470		128612587	-1	no_errors	ENST00000393245	ensembl	human	known	70_37	missense	SNP	1.000	T
TRIO	7204	genome.wustl.edu	37	5	14477003	14477003	+	Splice_Site	SNP	C	C	G	rs371806945		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr5:14477003C>G	ENST00000344204.4	+	41	6108	c.6084C>G	c.(6082-6084)gaC>gaG	p.D2028E	TRIO_ENST00000537187.1_Splice_Site_p.D2028E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2028	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTTTCCAGCTTTTTTTTAG	0.303																																																	0								C	GLU/ASP	1,4405	2.1+/-5.4	0,1,2202	77.0	74.0	75.0		6084	4.5	1.0	5		75	0,8600		0,0,4300	no	missense-near-splice	TRIO	NM_007118.2	45	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging	2028/3098	14477003	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6084-1C>G	5.37:g.14477003C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D2028E	ENST00000344204.4	37	c.6084	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666540	0.47677	2.27E-4	0.0	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.60920	0.15;0.15	5.39	4.52	0.55395	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	N	0.20845	0.615	0.54753	D	0.999981	B;P	0.44776	0.05;0.843	B;D	0.63113	0.036;0.911	T	0.55547	-0.8124	9	.	.	.	.	11.084	0.48076	0.0:0.8521:0.0:0.1479	.	2028;2028	O75962-5;O75962	.;TRIO_HUMAN	E	2028;2028;1715;108	ENSP00000339299:D2028E;ENSP00000446348:D2028E	.	D	+	3	2	TRIO	14530003	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.242000	0.51384	1.269000	0.44280	0.585000	0.79938	GAC	TRIO	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.303	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	C	NM_007118	Missense_Mutation	14477003	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179637917	179637917	+	Silent	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:179637917G>A	ENST00000591111.1	-	33	7998	c.7774C>T	c.(7774-7776)Cta>Tta	p.L2592L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L2592L|TTN_ENST00000342175.6_Silent_p.L2546L|TTN_ENST00000589042.1_Silent_p.L2592L|TTN_ENST00000359218.5_Silent_p.L2546L|TTN_ENST00000460472.2_Silent_p.L2546L|TTN_ENST00000360870.5_Silent_p.L2592L|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12915					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)			ATCATATTTAGAACTGTCAAT	0.328																																																	0													49.0	51.0	51.0					2																	179637917		2203	4299	6502	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.7774C>T	2.37:g.179637917G>A		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_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.L2592	ENST00000591111.1	37	c.7774		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179637917	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.208	A
TUBBP5	643224	genome.wustl.edu	37	9	141071339	141071339	+	RNA	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr9:141071339C>T	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		TTTCCAGGGTCGCATGCCCAT	0.542																																																	0																																												643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071339C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-		0.542	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	C	NR_027156		141071339	+1	no_errors	ENST00000290377	ensembl	human	known	70_37	rna	SNP	1.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50664366	50664366	+	Missense_Mutation	SNP	G	G	A	rs368583248		TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr22:50664366G>A	ENST00000248846.5	-	10	1944	c.1840C>T	c.(1840-1842)Ctc>Ttc	p.L614F	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.L614F|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	614					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GACCAACAGAGGTAATGCTGC	0.587																																																	0								G	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	76.0	81.0	79.0		1840	3.0	1.0	22		79	0,8600		0,0,4300	no	missense	TUBGCP6	NM_020461.3	22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	614/1820	50664366	1,13005	2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1840C>T	22.37:g.50664366G>A	ENSP00000248846:p.Leu614Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.L614F	ENST00000248846.5	37	c.1840	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101890	0.56183	2.27E-4	0.0	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08807	3.05;3.05	5.19	3.01	0.34805	.	0.643042	0.15625	N	0.252713	T	0.17831	0.0428	L	0.46157	1.445	0.33324	D	0.567683	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.968	T	0.16424	-1.0403	10	0.66056	D	0.02	.	6.097	0.20025	0.1005:0.0:0.5064:0.3931	.	614;614	B2RWN4;Q96RT7	.;GCP6_HUMAN	F	614	ENSP00000248846:L614F;ENSP00000397387:L614F	ENSP00000248846:L614F	L	-	1	0	TUBGCP6	49006493	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	5.263000	0.65507	1.197000	0.43143	0.462000	0.41574	CTC	TUBGCP6	-	pfam_Spc97_Spc98		0.587	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50664366	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	A
TXNDC11	51061	genome.wustl.edu	37	16	11773493	11773493	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr16:11773493G>A	ENST00000356957.3	-	13	2623	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.A812V			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	839					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTTATTTCTGCTCTCAGTTT	0.592																																																	0													71.0	65.0	67.0					16																	11773493		2197	4300	6497	SO:0001583	missense	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2516C>T	16.37:g.11773493G>A	ENSP00000349439:p.Ala839Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A839V	ENST00000356957.3	37	c.2516		16	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469700	0.43839	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.15487	2.64;2.42	5.63	4.65	0.58169	.	0.534308	0.20362	N	0.093826	T	0.19967	0.0480	L	0.60455	1.87	0.09310	N	0.999999	P;P	0.41848	0.698;0.763	B;B	0.39840	0.276;0.311	T	0.07328	-1.0778	10	0.42905	T	0.14	-15.6316	12.8158	0.57665	0.081:0.0:0.919:0.0	.	839;812	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	V	839;812	ENSP00000349439:A839V;ENSP00000283033:A812V	ENSP00000283033:A812V	A	-	2	0	TXNDC11	11680994	0.901000	0.30685	0.140000	0.22221	0.994000	0.84299	2.361000	0.44160	1.316000	0.45131	0.655000	0.94253	GCA	TXNDC11	-	NULL		0.592	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	G	NM_015914		11773493	-1	no_errors	ENST00000356957	ensembl	human	known	70_37	missense	SNP	0.159	A
UROC1	131669	genome.wustl.edu	37	3	126208147	126208147	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr3:126208147G>T	ENST00000290868.2	-	17	1733	c.1680C>A	c.(1678-1680)aaC>aaA	p.N560K	UROC1_ENST00000383579.3_Missense_Mutation_p.N620K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	560					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CGTCGTAAATGTTGGAGGTCT	0.488																																																	0													154.0	147.0	150.0					3																	126208147		2203	4300	6503	SO:0001583	missense	131669			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1680C>A	3.37:g.126208147G>T	ENSP00000290868:p.Asn560Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.N560K	ENST00000290868.2	37	c.1680	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790146	0.50102	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46451	0.87;0.87	4.59	2.75	0.32379	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.88310	2.945	0.58432	D	0.999999	D;D	0.69078	0.997;0.992	D;D	0.74023	0.982;0.955	T	0.63611	-0.6598	10	0.87932	D	0	-18.9501	6.5516	0.22438	0.3152:0.0:0.6848:0.0	.	620;560	E9PE13;Q96N76	.;HUTU_HUMAN	K	560;620	ENSP00000290868:N560K;ENSP00000373073:N620K	ENSP00000290868:N560K	N	-	3	2	UROC1	127690837	1.000000	0.71417	0.985000	0.45067	0.617000	0.37484	1.473000	0.35387	0.447000	0.26695	0.491000	0.48974	AAC	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase		0.488	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	G	NM_144639		126208147	-1	no_errors	ENST00000290868	ensembl	human	known	70_37	missense	SNP	1.000	T
USP40	55230	genome.wustl.edu	37	2	234429739	234429740	+	In_Frame_Ins	INS	-	-	TTC	rs141501074|rs59586144|rs397953463	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr2:234429739_234429740insTTC	ENST00000427112.2	-	16	2254_2255	c.2219_2220insGAA	c.(2218-2220)aaa>aaGAAa	p.740_740K>KK	USP40_ENST00000251722.6_In_Frame_Ins_p.740_740K>KK|USP40_ENST00000450966.1_In_Frame_Ins_p.752_752K>KK			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TAGTGACCCATTTCTCTTCCTT	0.361														749	0.149561	0.1967	0.1326	5008	,	,		19239	0.0456		0.2425	False		,,,				2504	0.1094																0										676,2890		63,550,1170						-1.6	0.8		dbSNP_130	84	1690,6138		187,1316,2411	no	coding	USP40	NM_018218.2		250,1866,3581	A1A1,A1R,RR		21.5892,18.9568,20.7653				2366,9028				SO:0001652	inframe_insertion	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2217_2219dupGAA	2.37:g.234429740_234429742dupTTC	ENSP00000387898:p.Lys740dup	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX38|Q70EL0	In_Frame_Ins	INS	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.753in_frame_insK	ENST00000427112.2	37	c.2256_2255	CCDS46547.1	2																																																																																			USP40	-	NULL		0.361	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	-	XM_114294		234429740	-1	no_errors	ENST00000450966	ensembl	human	known	70_37	in_frame_ins	INS	0.067:0.070	TTC
VWF	7450	genome.wustl.edu	37	12	6120958	6120958	+	Silent	SNP	G	G	A	rs56981471	byFrequency	TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr12:6120958G>A	ENST00000261405.5	-	34	5921	c.5667C>T	c.(5665-5667)ccC>ccT	p.P1889P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1889					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGACGTCCCCGGGCTGCAGAA	0.562													g|||	108	0.0215655	0.0726	0.013	5008	,	,		17272	0.0		0.003	False		,,,				2504	0.0																0								A		262,4088		7,248,1920	8.0	10.0	9.0		5667	-1.0	1.0	12	dbSNP_129	9	5,8479		0,5,4237	yes	coding-synonymous	VWF	NM_000552.3		7,253,6157	AA,AG,GG		0.0589,6.023,2.0804		1889/2814	6120958	267,12567	2175	4242	6417	SO:0001819	synonymous_variant	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5667C>T	12.37:g.6120958G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCE8|Q99806	Silent	SNP	pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P1889	ENST00000261405.5	37	c.5667	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	G	NM_000552		6120958	-1	no_errors	ENST00000261405	ensembl	human	known	70_37	silent	SNP	0.981	A
XKRX	402415	genome.wustl.edu	37	X	100169813	100169813	+	Silent	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chrX:100169813G>A	ENST00000372956.2	-	3	1468	c.864C>T	c.(862-864)ttC>ttT	p.F288F	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Silent_p.F301F			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CACTTCTCCAGAACTTAATCC	0.498																																																	0													88.0	81.0	83.0					X																	100169813		2203	4300	6503	SO:0001819	synonymous_variant	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.864C>T	X.37:g.100169813G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	pfam_Transport_prot_XK	p.F301	ENST00000372956.2	37	c.903	CCDS14476.2	X																																																																																			XKRX	-	pfam_Transport_prot_XK		0.498	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	G	NM_212559		100169813	-1	no_errors	ENST00000328526	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF365	22891	genome.wustl.edu	37	10	64160273	64160273	+	3'UTR	SNP	C	C	T			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr10:64160273C>T	ENST00000395254.3	+	0	2229				ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACCATGCTGCCAGCCTCTATC	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.*725C>T	10.37:g.64160273C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000395254.3	37	NULL	CCDS31209.1	10																																																																																			ZNF365	-	-		0.483	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	C	NM_014951		64160273	+1	no_errors	ENST00000466727	ensembl	human	known	70_37	rna	SNP	0.059	T
ZNF75A	7627	genome.wustl.edu	37	16	3361824	3361824	+	5'UTR	SNP	G	G	A			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr16:3361824G>A	ENST00000574298.1	+	0	230				ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GTTTCGGGCTGAAGCCAACAG	0.488																																																	0																																										SO:0001623	5_prime_UTR_variant	7627			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.-244G>A	16.37:g.3361824G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VDI8|Q92669	RNA	SNP	-	NULL	ENST00000574298.1	37	NULL	CCDS10501.1	16																																																																																			ZNF75A	-	-		0.488	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF75A	HGNC	protein_coding	OTTHUMT00000251506.2	G	NM_153028		3361824	+1	no_errors	ENST00000498240	ensembl	human	known	70_37	rna	SNP	0.000	A
ZW10	9183	genome.wustl.edu	37	11	113618265	113618265	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A3EO-01A-11D-A20U-09	TCGA-FU-A3EO-11A-13D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2900e30-5120-4349-8520-13bfab27dfc7	400d56d0-c2e8-4ab4-b22c-1b39bb7cdc61	g.chr11:113618265A>C	ENST00000200135.3	-	9	1404	c.1260T>G	c.(1258-1260)caT>caG	p.H420Q		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	420					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCACAGTGTTATGAATTTCTG	0.358																																																	0													154.0	152.0	152.0					11																	113618265		2201	4296	6497	SO:0001583	missense	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1260T>G	11.37:g.113618265A>C	ENSP00000200135:p.His420Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.H420Q	ENST00000200135.3	37	c.1260	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966940	0.74131	.	.	ENSG00000086827	ENST00000200135	T	0.44881	0.91	5.89	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.58487	-0.7628	10	0.24483	T	0.36	-13.2577	10.4876	0.44731	0.1497:0.0:0.8503:0.0	.	420	O43264	ZW10_HUMAN	Q	420	ENSP00000200135:H420Q	ENSP00000200135:H420Q	H	-	3	2	ZW10	113123475	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.655000	0.54460	1.477000	0.48234	-0.468000	0.05107	CAT	ZW10	-	pfam_RZZ-complex_Zw10		0.358	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	A	NM_004724		113618265	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	missense	SNP	1.000	C
