#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_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
PDXDC2P	283970	genome.wustl.edu	37	16	70011737	70011737	+	RNA	SNP	T	T	C	rs199849939	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:70011737T>C	ENST00000531894.1	-	0	2724				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CAGGGCCCATTTGCTATTACA	0.438													t|||	927	0.185104	0.0227	0.3228	5008	,	,		20508	0.0833		0.4046	False		,,,				2504	0.1861																0								ENSG00000226232																																			RP11-419C5.2			0			-	Clone_based_vega_gene			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70011737T>C		Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	A8K9Z5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			-	-		0.438	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226232	processed_transcript	OTTHUMT00000395258.1	T		rs199849939		70011737	-1	no_errors	ENST00000525562	ensembl	human	known	74_37	rna	SNP	0.002	C
TSSC1	7260	genome.wustl.edu	37	2	3212436	3212436	+	Intron	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:3212436C>T	ENST00000382125.4	-	5	709				TSSC1_ENST00000478754.1_Intron|TSSC1_ENST00000443925.2_Missense_Mutation_p.C270Y|TSSC1_ENST00000398659.4_Intron	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1											breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGACTTCTTGCAGTCATAACT	0.527																																					Colon(140;1261 1762 4183 34270 49743)												0								ENSG00000032389																																			TSSC1	SO:0001627	intron_variant	0			-	HGNC	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.516+5483G>A	2.37:g.3212436C>T		Somatic	0	32	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_WD40_repeat_dom	p.C270Y	ENST00000382125.4	37	c.809	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	C	1.223	-0.626338	0.03610	.	.	ENSG00000032389	ENST00000443925	.	.	.	1.39	0.0644	0.14353	.	.	.	.	.	T	0.35158	0.0922	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36915	-0.9728	5	0.87932	D	0	.	3.1604	0.06518	0.0:0.5006:0.0:0.4994	.	.	.	.	Y	270	.	ENSP00000389080:C270Y	C	-	2	0	TSSC1	3191443	0.002000	0.14202	0.001000	0.08648	0.051000	0.14879	0.373000	0.20484	-0.007000	0.14345	0.462000	0.41574	TGC	-	NULL		0.527	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	protein_coding	OTTHUMT00000206694.2	C	NM_003310	-		3212436	-1	no_errors	ENST00000443925	ensembl	human	putative	74_37	missense	SNP	0.001	T
GRIK3	2899	genome.wustl.edu	37	1	37325619	37325619	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:37325619C>T	ENST00000373091.3	-	6	803		c.e6-1		GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTAGAGATCCTGGATAGAGA	0.577																																																	0								ENSG00000163873						81.0	86.0	84.0					1																	37325619		2203	4300	6503	GRIK3	SO:0001630	splice_region_variant	0			-	HGNC	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.787-1G>A	1.37:g.37325619C>T		Somatic	0	31	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	A9Z1Z8|B1AMS6|Q13004|Q16136	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e6-1	ENST00000373091.3	37	c.787-1	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941129	0.53079	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7824	0.96422	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK3	37098206	1.000000	0.71417	0.983000	0.44433	0.376000	0.30014	5.761000	0.68801	2.677000	0.91161	0.561000	0.74099	.	-	-		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	C	NM_000831	-	Intron	37325619	-1	no_errors	ENST00000373091	ensembl	human	known	74_37	splice_site	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38813373	38813373	+	Silent	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:38813373G>A	ENST00000359357.3	+	34	4472	c.4218G>A	c.(4216-4218)aaG>aaA	p.K1406K	DNAH8_ENST00000449981.2_Silent_p.K1623K|DNAH8_ENST00000441566.1_Silent_p.K1406K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1406					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGCCATTAAGGAGAAGGATA	0.368																																																	0								ENSG00000124721						80.0	74.0	76.0					6																	38813373		2203	4300	6503	DNAH8	SO:0001819	synonymous_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4218G>A	6.37:g.38813373G>A		Somatic	0	15	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1406	ENST00000359357.3	37	c.4218		6																																																																																			-	pfam_Dynein_heavy_dom-2		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38813373	+1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	SNP	1.000	A
MS4A14	84689	genome.wustl.edu	37	11	60164142	60164142	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:60164142C>T	ENST00000300187.6	+	1	368	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	MS4A14_ENST00000531783.1_Missense_Mutation_p.H31Y|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.H31Y|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	31						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTACAGACCTCATAGCTCTCT	0.453																																																	0								ENSG00000166928						105.0	87.0	93.0					11																	60164142		2203	4300	6503	MS4A14	SO:0001583	missense	0			-	HGNC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.91C>T	11.37:g.60164142C>T	ENSP00000300187:p.His31Tyr	Somatic	0	47	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	66	14.29	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CD20-like	p.H31Y	ENST00000300187.6	37	c.91	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170273	0.78452	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.32272	2.73;1.46;1.5;3.07	4.85	4.85	0.62838	.	0.864972	0.10365	N	0.683538	T	0.45337	0.1337	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.26608	-1.0098	10	0.87932	D	0	-10.4613	13.3508	0.60601	0.0:1.0:0.0:0.0	.	31;31	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	31	ENSP00000300187:H31Y;ENSP00000378453:H31Y;ENSP00000435764:H31Y;ENSP00000433761:H31Y	ENSP00000300187:H31Y	H	+	1	0	MS4A14	59920718	0.989000	0.36119	0.936000	0.37596	0.859000	0.49053	3.171000	0.50824	2.515000	0.84797	0.655000	0.94253	CAT	-	NULL		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	protein_coding	OTTHUMT00000395383.2	C		-		60164142	+1	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	SNP	0.977	T
INPP5J	27124	genome.wustl.edu	37	22	31522464	31522464	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr22:31522464G>A	ENST00000331075.5	+	3	1423	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	INPP5J_ENST00000412277.2_Missense_Mutation_p.M391I|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.M91I|INPP5J_ENST00000405300.1_Missense_Mutation_p.M91I|INPP5J_ENST00000404390.3_Missense_Mutation_p.M90I|INPP5J_ENST00000404453.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	458	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGCAGACATGATCGCCATAG	0.667																																																	0								ENSG00000185133						115.0	121.0	119.0					22																	31522464		2143	4235	6378	INPP5J	SO:0001583	missense	0			-	HGNC	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1374G>A	22.37:g.31522464G>A	ENSP00000333262:p.Met458Ile	Somatic	0	39	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.M458I	ENST00000331075.5	37	c.1374		22	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873654	0.51695	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	T;T;D;T;T;T	0.93659	-0.7;-0.7;-3.26;-0.7;-0.7;-0.7	4.8	4.8	0.61643	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91912	0.7439	N	0.11106	0.095	0.58432	D	0.999996	D;B	0.60575	0.988;0.02	D;B	0.74348	0.983;0.022	D	0.88993	0.3416	10	0.11485	T	0.65	.	18.2586	0.90026	0.0:0.0:1.0:0.0	.	458;90	Q15735;Q15735-3	PI5PA_HUMAN;.	I	458;391;23;91;91;90	ENSP00000333262:M458I;ENSP00000392924:M391I;ENSP00000406570:M23I;ENSP00000383150:M91I;ENSP00000384596:M91I;ENSP00000384534:M90I	ENSP00000333262:M458I	M	+	3	0	INPP5J	29852464	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.392000	0.97252	2.395000	0.81488	0.561000	0.74099	ATG	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.667	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	protein_coding	OTTHUMT00000321784.1	G	NM_001002837	-		31522464	+1	no_errors	ENST00000331075	ensembl	human	known	74_37	missense	SNP	1.000	A
TET1	80312	genome.wustl.edu	37	10	70412266	70412266	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:70412266delA	ENST00000373644.4	+	6	4585	c.4376delA	c.(4375-4377)caafs	p.Q1459fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1459					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGGTATGGTCAAAAAGGAAAC	0.358																																																	0								ENSG00000138336						96.0	96.0	96.0					10																	70412266		2203	4300	6503	TET1	SO:0001589	frameshift_variant	0				HGNC	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4376delA	10.37:g.70412266delA	ENSP00000362748:p.Gln1459fs	Somatic	0	16	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G1461fs	ENST00000373644.4	37	c.4376	CCDS7281.1	10																																																																																			-	NULL		0.358	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	A	NM_030625			70412266	+1	no_errors	ENST00000373644	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
RP11-423O2.5	0	genome.wustl.edu	37	1	142803930	142803930	+	lincRNA	SNP	A	A	G	rs74792472		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:142803930A>G	ENST00000423385.1	-	0	1035																											AATTTGATTAACTTCTAAATT	0.328																																																	0								ENSG00000234978																																			RP11-423O2.5			0			-	Clone_based_vega_gene																													1.37:g.142803930A>G		Somatic	0	11	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000423385.1	37	NULL		1																																																																																			-	-		0.328	RP11-423O2.5-001	KNOWN	basic	lincRNA	ENSG00000234978	lincRNA	OTTHUMT00000193203.1	A		rs74792472		142803930	-1	no_errors	ENST00000423385	ensembl	human	known	74_37	rna	SNP	0.001	G
RDH13	112724	genome.wustl.edu	37	19	55574429	55574430	+	5'UTR	INS	-	-	GGCGTCC	rs67813353|rs1654457|rs113253419	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:55574429_55574430insGGCGTCC	ENST00000415061.3	-	0	114_115				RDH13_ENST00000396247.3_Intron	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)						eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GTCAGGCGTCAGGGGTCGGCGC	0.738														4256	0.84984	0.7882	0.9035	5008	,	,		10693	0.9692		0.8598	False		,,,				2504	0.7618																0								ENSG00000160439		,	1689,194,481		747,48,147,64,18,158					,		0.0		dbSNP_130	2	3753,491,1004		1682,115,274,167,42,344	no	intron,utr-5	RDH13	NM_138412.3,NM_001145971.1	,	2429,163,421,231,60,502	A1A1,A1A2,A1R,A2A2,A2R,RR		28.487,28.5533,28.5076	,	,		5442,685,1485				RDH13	SO:0001623	5_prime_UTR_variant	0				HGNC		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.-30->GGACGCC	19.37:g.55574429_55574430insGGCGTCC		Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6UX79|Q96G88	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000415061.3	37	NULL	CCDS54320.1	19																																																																																			-	-		0.738	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	protein_coding	OTTHUMT00000451470.1	-	NM_138412			55574430	-1	no_errors	ENST00000589305	ensembl	human	known	74_37	rna	INS	0.004:0.003	GGCGTCC
DHX16	8449	genome.wustl.edu	37	6	30632764	30632764	+	Silent	SNP	C	C	A	rs544581944	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:30632764C>A	ENST00000376442.3	-	7	1326	c.1131G>T	c.(1129-1131)ccG>ccT	p.P377P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	377					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GTGGAGCTGACGGCTCCTAAG	0.587																																																	0								ENSG00000204560						44.0	46.0	45.0					6																	30632764		1511	2709	4220	DHX16	SO:0001819	synonymous_variant	0			-	HGNC	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1131G>T	6.37:g.30632764C>A		Somatic	0	43	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.00	O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P377	ENST00000376442.3	37	c.1131	CCDS4685.1	6																																																																																			-	NULL		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	protein_coding	OTTHUMT00000076076.2	C	NM_003587	-		30632764	-1	no_errors	ENST00000376442	ensembl	human	known	74_37	silent	SNP	0.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24538169	24538169	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:24538169G>A	ENST00000342740.5	+	38	4130	c.3976G>A	c.(3976-3978)Gtc>Atc	p.V1326I	CPNE6_ENST00000537691.1_5'Flank|CPNE6_ENST00000216775.2_5'Flank|CPNE6_ENST00000397016.2_5'Flank|LRRC16B_ENST00000334420.7_Missense_Mutation_p.V379I	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1326						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGAGCCCGAAGTCCAAGGTCT	0.607																																																	0								ENSG00000186648						10.0	8.0	9.0					14																	24538169		2162	4225	6387	LRRC16B	SO:0001583	missense	0			-	HGNC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3976G>A	14.37:g.24538169G>A	ENSP00000340467:p.Val1326Ile	Somatic	0	15	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	Q8TEF7|Q96HS9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V1326I	ENST00000342740.5	37	c.3976	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	3.888	-0.024651	0.07589	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.59502	0.26;0.26	5.04	2.19	0.27852	.	0.566297	0.14734	N	0.301587	T	0.25827	0.0629	N	0.03608	-0.345	0.19945	N	0.999946	B;B	0.25486	0.0;0.127	B;B	0.25291	0.001;0.059	T	0.29941	-0.9995	10	0.02654	T	1	-20.2507	7.143	0.25566	0.2842:0.0:0.7158:0.0	.	379;1326	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	I	1326;379	ENSP00000340467:V1326I;ENSP00000334701:V379I	ENSP00000334701:V379I	V	+	1	0	LRRC16B	23608009	0.995000	0.38212	0.775000	0.31657	0.949000	0.60115	1.261000	0.32980	0.721000	0.32231	0.561000	0.74099	GTC	-	NULL		0.607	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	protein_coding	OTTHUMT00000416527.1	G	NM_138360	-		24538169	+1	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	SNP	0.939	A
KRTAP10-11	386678	genome.wustl.edu	37	21	46067079	46067079	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:46067079C>A	ENST00000334670.8	+	1	749	c.704C>A	c.(703-705)tCc>tAc	p.S235Y	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	235	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						AGACCCTCCTCCTCTGTGTCC	0.652																																																	0								ENSG00000243489						117.0	127.0	123.0					21																	46067079		2203	4300	6503	KRTAP10-11	SO:0001583	missense	0			-	HGNC	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.704C>A	21.37:g.46067079C>A	ENSP00000334197:p.Ser235Tyr	Somatic	0	89	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	82	27.43	A2RRF9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S235Y	ENST00000334670.8	37	c.704	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356639	0.61293	.	.	ENSG00000243489;ENSG00000205439	ENST00000334670;ENST00000546091	T	0.01505	4.82	2.94	2.94	0.34122	.	.	.	.	.	T	0.06962	0.0177	L	0.56199	1.76	0.36195	D	0.850361	D	0.89917	1.0	D	0.74674	0.984	T	0.28554	-1.0040	9	0.87932	D	0	.	12.1689	0.54146	0.0:1.0:0.0:0.0	.	235	P60412	KR10B_HUMAN	Y	235;8	ENSP00000334197:S235Y	ENSP00000334197:S235Y	S	+	2	0	KRTAP12-3;KRTAP10-11	44891507	0.834000	0.29399	0.862000	0.33874	0.903000	0.53119	0.570000	0.23653	1.617000	0.50277	0.456000	0.33151	TCC	-	NULL		0.652	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	protein_coding	OTTHUMT00000128029.1	C	NM_198692	-		46067079	+1	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	SNP	1.000	A
BHLHE23	128408	genome.wustl.edu	37	20	61637484	61637484	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:61637484C>T	ENST00000370346.2	-	1	903	c.595G>A	c.(595-597)Gcc>Acc	p.A199T		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						GGCCCCAGGGCGGCGCCTGCG	0.736																																																	0								ENSG00000125533						4.0	5.0	4.0					20																	61637484		2008	3988	5996	BHLHE23	SO:0001583	missense	0			-	HGNC	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"""Basic helix-loop-helix proteins"""	16093	protein-coding gene	gene with protein product		609331	"""basic helix-loop-helix domain containing, class B, 4"""	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.595G>A	20.37:g.61637484C>T	ENSP00000359371:p.Ala199Thr	Somatic	0	11	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	B2RP69	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A199T	ENST00000370346.2	37	c.595	CCDS33507.1	20	.	.	.	.	.	.	.	.	.	.	C	11.75	1.733205	0.30684	.	.	ENSG00000125533	ENST00000370346	D	0.97529	-4.42	3.5	2.52	0.30459	.	0.000000	0.85682	U	0.000000	D	0.91938	0.7447	L	0.45137	1.4	0.58432	D	0.999991	P	0.45902	0.868	B	0.25506	0.061	D	0.88125	0.2834	10	0.40728	T	0.16	-2.51	11.5405	0.50663	0.0:0.817:0.183:0.0	.	199	Q8NDY6	BHE23_HUMAN	T	199	ENSP00000359371:A199T	ENSP00000359371:A199T	A	-	1	0	BHLHE23	61107929	0.101000	0.21875	0.228000	0.23943	0.084000	0.17831	0.475000	0.22164	0.414000	0.25790	0.491000	0.48974	GCC	-	NULL		0.736	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE23	protein_coding	OTTHUMT00000080095.2	C	NM_080606	-		61637484	-1	no_errors	ENST00000370346	ensembl	human	known	74_37	missense	SNP	0.994	T
SIPA1L2	57568	genome.wustl.edu	37	1	232561478	232561478	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:232561478C>T	ENST00000366630.1	-	17	4845	c.4487G>A	c.(4486-4488)aGg>aAg	p.R1496K	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R570K|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1496K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1496					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACCCCCTCCTGTTGCTGCA	0.577																																																	0								ENSG00000116991						67.0	80.0	76.0					1																	232561478		2191	4287	6478	SIPA1L2	SO:0001583	missense	0			-	HGNC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4487G>A	1.37:g.232561478C>T	ENSP00000355589:p.Arg1496Lys	Somatic	0	25	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R1496K	ENST00000366630.1	37	c.4487	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.673327	0.96754	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.33216	1.42;1.42;1.42	5.66	5.66	0.87406	.	0.072630	0.53938	D	0.000048	T	0.53126	0.1777	L	0.56280	1.765	0.53688	D	0.999977	D;D	0.67145	0.992;0.996	P;D	0.76071	0.866;0.987	T	0.37337	-0.9710	10	0.39692	T	0.17	-33.7588	20.1225	0.97967	0.0:1.0:0.0:0.0	.	1496;570	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	K	1496;1496;570	ENSP00000355589:R1496K;ENSP00000262861:R1496K;ENSP00000309102:R570K	ENSP00000262861:R1496K	R	-	2	0	SIPA1L2	230628101	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.748000	0.68697	2.831000	0.97527	0.650000	0.86243	AGG	-	pfam_DUF3401		0.577	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	C	XM_045839	-		232561478	-1	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	SNP	1.000	T
MED16	10025	genome.wustl.edu	37	19	880053	880053	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:880053G>A	ENST00000589119.1	-	7	1236	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.P413S|MED16_ENST00000325464.1_Missense_Mutation_p.P413S|MED16_ENST00000312090.6_Missense_Mutation_p.P413S|MED16_ENST00000395808.3_Missense_Mutation_p.P413S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	413					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCCACAGGCCTCGGGGCC	0.682																																																	0								ENSG00000175221						16.0	17.0	17.0					19																	880053		2165	4273	6438	MED16	SO:0001583	missense	0			-	HGNC	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1237C>T	19.37:g.880053G>A	ENSP00000464810:p.Pro413Ser	Somatic	0	21	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P413S	ENST00000589119.1	37	c.1237	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	G	1.468	-0.560714	0.03939	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000424039	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.24	0.0805	0.14421	WD40 repeat-like-containing domain (1);	0.442312	0.23676	N	0.045679	T	0.15696	0.0378	N	0.08118	0	0.35918	D	0.831601	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.12837	0.001;0.001;0.004;0.002;0.008	T	0.15925	-1.0420	10	0.09843	T	0.71	-0.328	4.3167	0.10997	0.3681:0.1846:0.4473:0.0	.	413;413;413;413;413	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	S	413;413;413;413;413;269;174;172;413	ENSP00000325612:P413S;ENSP00000308528:P413S;ENSP00000379153:P413S;ENSP00000269814:P413S	ENSP00000269814:P413S	P	-	1	0	MED16	831053	0.998000	0.40836	0.048000	0.18961	0.055000	0.15305	0.806000	0.27126	0.069000	0.16605	0.561000	0.74099	CCT	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom		0.682	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	protein_coding	OTTHUMT00000457902.3	G	NM_005481	-		880053	-1	no_errors	ENST00000325464	ensembl	human	known	74_37	missense	SNP	0.766	A
CARS	833	genome.wustl.edu	37	11	3038427	3038427	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:3038427T>C	ENST00000397111.5	-	15	1822	c.1577A>G	c.(1576-1578)aAc>aGc	p.N526S	CARS_ENST00000397114.3_Missense_Mutation_p.N516S|CARS_ENST00000380525.4_Missense_Mutation_p.N609S|CARS_ENST00000401769.3_Missense_Mutation_p.N539S|CARS_ENST00000278224.9_Missense_Mutation_p.N526S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	526					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CATATAGAGGTTGCACTGACT	0.537			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0								ENSG00000110619						107.0	85.0	92.0					11																	3038427		2202	4298	6500	CARS	SO:0001583	missense	0			-	HGNC	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1577A>G	11.37:g.3038427T>C	ENSP00000380300:p.Asn526Ser	Somatic	0	40	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.N609S	ENST00000397111.5	37	c.1826	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390514	0.82902	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.25	4.25	0.50352	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.78947	0.4364	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;0.989;1.0;1.0;0.989;1.0	P;P;D;D;P;D	0.97110	0.881;0.893;0.999;1.0;0.844;0.987	D	0.84909	0.0847	10	0.66056	D	0.02	-53.4236	13.5163	0.61543	0.0:0.0:0.0:1.0	.	539;609;526;526;609;516	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	S	609;526;526;516;539	ENSP00000369897:N609S;ENSP00000380300:N526S;ENSP00000278224:N526S;ENSP00000380303:N516S;ENSP00000384069:N539S	ENSP00000278224:N526S	N	-	2	0	CARS	2995003	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.416000	0.80143	1.783000	0.52377	0.374000	0.22700	AAC	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase		0.537	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	protein_coding	OTTHUMT00000030117.4	T	NM_001751	-		3038427	-1	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	142567933	142567933	+	Silent	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:142567933G>A	ENST00000389484.3	-	2	1091	c.120C>T	c.(118-120)caC>caT	p.H40H	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	40	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACGTGATCGTGGCAAAGAA	0.443										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						61.0	59.0	60.0					2																	142567933		2203	4300	6503	LRP1B	SO:0001819	synonymous_variant	0			-	HGNC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.120C>T	2.37:g.142567933G>A		Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H40	ENST00000389484.3	37	c.120	CCDS2182.1	2																																																																																			-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		142567933	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	SNP	1.000	A
PDCD4	27250	genome.wustl.edu	37	10	112653894	112653894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:112653894G>T	ENST00000280154.7	+	9	1310	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	PDCD4_ENST00000393104.2_Nonsense_Mutation_p.E335*|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	346	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AGACATATCTGAAGCTGAACA	0.328																																					Ovarian(115;1498 1603 9363 40056 40885)												0								ENSG00000150593						133.0	139.0	137.0					10																	112653894		2203	4299	6502	PDCD4	SO:0001587	stop_gained	0			-	HGNC	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1036G>T	10.37:g.112653894G>T	ENSP00000280154:p.Glu346*	Somatic	0	28	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.E346*	ENST00000280154.7	37	c.1036	CCDS7567.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.365976	0.98238	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-27.6135	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	346;335	.	ENSP00000280154:E346X	E	+	1	0	PDCD4	112643884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.473000	0.97714	2.838000	0.97847	0.655000	0.94253	GAA	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.328	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	protein_coding	OTTHUMT00000050361.1	G	NM_014456	-		112653894	+1	no_errors	ENST00000280154	ensembl	human	known	74_37	nonsense	SNP	1.000	T
PRIM2	5558	genome.wustl.edu	37	6	57512787	57512788	+	3'UTR	INS	-	-	CACCAAGGC	rs373452397|rs376103961|rs386701662|rs79832250		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:57512787_57512788insCACCAAGGC	ENST00000389488.2	+	0	1702_1703				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttgcactctgttgtgtaattgt	0.431																																																	0								ENSG00000146143																																			PRIM2	SO:0001624	3_prime_UTR_variant	0				HGNC		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1700->CACCAAGGC	6.37:g.57512787_57512788insCACCAAGGC		Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			-	-		0.431	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	protein_coding	OTTHUMT00000043468.3	-	NM_000947			57512788	+1	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	INS	0.057:0.034	CACCAAGGC
RP11-1036E20.9	0	genome.wustl.edu	37	11	59038010	59038011	+	lincRNA	INS	-	-	AA	rs56102919|rs77430335|rs397935653|rs112888385		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:59038010_59038011insAA	ENST00000399003.1	-	0	1142_1143																											tagttgtttacaaaaaaaaaac	0.371																																																	0								ENSG00000214797																																			RP11-1036E20.9			0				Clone_based_vega_gene																													11.37:g.59038019_59038020dupAA		Somatic	0	28	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399003.1	37	NULL		11																																																																																			-	-		0.371	RP11-1036E20.9-001	KNOWN	basic	lincRNA	ENSG00000214797	lincRNA	OTTHUMT00000394611.1	-				59038011	-1	no_errors	ENST00000399003	ensembl	human	known	74_37	rna	INS	0.006:0.000	AA
LMBR1	64327	genome.wustl.edu	37	7	156520638	156520638	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:156520638G>A	ENST00000353442.5	-	12	1215	c.979C>T	c.(979-981)Cca>Tca	p.P327S	LMBR1_ENST00000354505.4_Missense_Mutation_p.P368S|LMBR1_ENST00000359422.4_Missense_Mutation_p.P175S|LMBR1_ENST00000540390.1_Missense_Mutation_p.P306S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	327					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTTCCTTTTGGCATTGCTGTT	0.363																																																	0								ENSG00000105983						76.0	68.0	70.0					7																	156520638		2203	4300	6503	LMBR1	SO:0001583	missense	0			-	HGNC	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.979C>T	7.37:g.156520638G>A	ENSP00000326604:p.Pro327Ser	Somatic	0	32	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	10.71	A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.P368S	ENST00000353442.5	37	c.1102	CCDS5945.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331035	0.81690	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	4.66	4.66	0.58398	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.67296	-0.5706	10	0.72032	D	0.01	-11.4	17.1573	0.86794	0.0:0.0:1.0:0.0	.	306;368;327	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	S	327;175;366;368;306	ENSP00000326604:P327S;ENSP00000352392:P175S;ENSP00000408256:P366S;ENSP00000346500:P368S;ENSP00000445509:P306S	ENSP00000326604:P327S	P	-	1	0	LMBR1	156213399	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.706000	0.91362	2.153000	0.67306	0.467000	0.42956	CCA	-	pfam_LMBR1-like_membr_prot		0.363	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1	protein_coding	OTTHUMT00000347939.3	G	NM_022458	-		156520638	-1	no_errors	ENST00000354505	ensembl	human	known	74_37	missense	SNP	1.000	A
DENND2C	163259	genome.wustl.edu	37	1	115168618	115168618	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:115168618G>A	ENST00000393274.1	-	0	613				DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393277.1_5'UTR|DENND2C_ENST00000393276.3_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCAACTGGGTGAATGACAA	0.358																																																	0								ENSG00000175984						59.0	58.0	58.0					1																	115168618		2203	4297	6500	DENND2C	SO:0001623	5_prime_UTR_variant	0			-	HGNC		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.-13C>T	1.37:g.115168618G>A		Somatic	0	9	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	B1AL26|Q5TCX6|Q6P3R3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																			-	-		0.358	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	protein_coding	OTTHUMT00000314822.1	G	NM_198459	-		115168618	-1	no_errors	ENST00000493549	ensembl	human	known	74_37	rna	SNP	1.000	A
DLG5	9231	genome.wustl.edu	37	10	79551868	79551868	+	3'UTR	DEL	A	A	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:79551868delA	ENST00000372391.2	-	0	6095				DLG5_ENST00000372388.2_3'UTR|RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000459739.1_5'Flank|RP13-39P12.3_ENST00000601701.1_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)						apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AAATACTTAGAAAAGGCTTGT	0.493																																																	0								ENSG00000228748																																			RP13-39P12.3	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.*330T>-	10.37:g.79551868delA		Somatic	0	33	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372391.2	37	NULL	CCDS7353.2	10																																																																																			-	-		0.493	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228748	protein_coding	OTTHUMT00000048900.2	A				79551868	+1	no_errors	ENST00000434097	ensembl	human	known	74_37	rna	DEL	0.950	-
TEX38	374973	genome.wustl.edu	37	1	47137457	47137457	+	5'Flank	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:47137457C>G	ENST00000334122.4	+	0	0				TEX38_ENST00000415500.1_5'Flank|TEX38_ENST00000564373.1_5'Flank|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA|TEX38_ENST00000569393.1_Missense_Mutation_p.Q5E|ATPAF1_ENST00000525633.1_Intron|EFCAB14_ENST00000544071.1_Intron	NM_001145474.2	NP_001138946.1	Q6PEX7	TEX38_HUMAN	testis expressed 38							integral component of membrane (GO:0016021)											GCCCAATTCTCAGAACCCAGT	0.537																																																	0								ENSG00000186118																																			TEX38	SO:0001631	upstream_gene_variant	0			-	HGNC		CCDS57999.1, CCDS72780.1, CCDS72781.1	1p33	2012-10-12	2012-10-12	2012-10-12	ENSG00000186118	ENSG00000186118			29589	protein-coding gene	gene with protein product	"""testis highly expressed protein 4"""		"""chromosome 1 open reading frame 223"", ""ATPAF1 antisense RNA 1 (non-protein coding)"", ""ATPAF1 antisense RNA 1"""	C1orf223, ATPAF1-AS1		12477932	Standard	XM_005270845		Approved	LOC374973, THEG4	uc001cqj.3	Q6PEX7	OTTHUMG00000007991		1.37:g.47137457C>G	Exception_encountered	Somatic	0	30	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	A1A4F8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Q5E	ENST00000334122.4	37	c.13	CCDS57999.1	1																																																																																			-	NULL		0.537	TEX38-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TEX38	protein_coding	OTTHUMT00000021929.2	C	NM_001145474	-		47137457	+1	no_errors	ENST00000569393	ensembl	human	known	74_37	missense	SNP	0.444	G
ITGB6	3694	genome.wustl.edu	37	2	160980365	160980365	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:160980365G>C	ENST00000283249.2	-	12	2155	c.1918C>G	c.(1918-1920)Caa>Gaa	p.Q640E	ITGB6_ENST00000428609.2_Missense_Mutation_p.Q598E|ITGB6_ENST00000409872.1_Missense_Mutation_p.Q640E|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	640					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTCGGGCTTGGCCAGCTGCT	0.448																																																	0								ENSG00000115221						159.0	138.0	145.0					2																	160980365		2203	4300	6503	ITGB6	SO:0001583	missense	0			-	HGNC		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1918C>G	2.37:g.160980365G>C	ENSP00000283249:p.Gln640Glu	Somatic	0	30	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.Q640E	ENST00000283249.2	37	c.1918	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	0.719	-0.784307	0.02907	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	T;T;T	0.81330	-1.48;-1.48;-1.48	5.74	4.85	0.62838	Integrin beta subunit, tail (2);	0.342160	0.31709	N	0.007190	T	0.66066	0.2752	N	0.21448	0.665	0.28780	N	0.899875	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48636	-0.9018	10	0.05525	T	0.97	.	14.9376	0.70970	0.0:0.0:0.7267:0.2733	.	598;640	E9PEE8;P18564	.;ITB6_HUMAN	E	640;598;640	ENSP00000283249:Q640E;ENSP00000408024:Q598E;ENSP00000386367:Q640E	ENSP00000283249:Q640E	Q	-	1	0	ITGB6	160688611	1.000000	0.71417	0.978000	0.43139	0.495000	0.33615	3.220000	0.51207	1.542000	0.49330	0.561000	0.74099	CAA	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail		0.448	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	protein_coding	OTTHUMT00000255036.1	G	NM_000888	-		160980365	-1	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	SNP	0.991	C
ATG2B	55102	genome.wustl.edu	37	14	96788614	96788614	+	Intron	DEL	A	A	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:96788614delA	ENST00000359933.4	-	18	3630				snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTCAGTGCAAAAAAAAAGG	0.353																																																	0								ENSG00000066739			5,26,3501		0,0,5,0,26,1735	75.0	71.0	72.0			-2.9	0.0	14		75	23,91,7706		1,0,21,1,89,3798	no	intron	ATG2B	NM_018036.5		1,0,26,1,115,5533	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4578,0.8777,1.2773			96788614	28,117,11207	1827	4079	5906	ATG2B	SO:0001627	intron_variant	0				HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2737-23T>-	14.37:g.96788614delA		Somatic	0	18	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q6ZRE7|Q96DQ3|Q9NW80	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000359933.4	37	NULL	CCDS9944.2	14																																																																																			-	-		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	A	NM_018036			96788614	-1	no_errors	ENST00000488421	ensembl	human	known	74_37	rna	DEL	0.000	-
FBRS	64319	genome.wustl.edu	37	16	30680597	30680598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:30680597_30680598insT	ENST00000287468.5	+	12	1277_1278	c.1014_1015insT	c.(1015-1017)tttfs	p.F339fs	FBRS_ENST00000395073.2_Frame_Shift_Ins_p.F251fs|FBRS_ENST00000356166.6_Frame_Shift_Ins_p.F859fs|FBRS_ENST00000568722.1_Frame_Shift_Ins_p.F251fs	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	339										ovary(1)	1			Colorectal(24;0.103)			TTCACCTGCTGTTTGAGAGGCC	0.733																																																	0								ENSG00000156860																																			FBRS	SO:0001589	frameshift_variant	0				HGNC	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1017dupT	16.37:g.30680600_30680600dupT	ENSP00000287468:p.Phe339fs	Somatic	0	36	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.56	B4DP86|Q96CI9|Q9H9X4	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	prints_AUTS2	p.E859fs	ENST00000287468.5	37	c.2574_2575		16																																																																																			-	NULL		0.733	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	protein_coding		-	NM_022452			30680598	+1	no_errors	ENST00000356166	ensembl	human	known	74_37	frame_shift_ins	INS	0.995:0.999	T
ZAK	51776	genome.wustl.edu	37	2	174034619	174034619	+	Splice_Site	SNP	A	A	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:174034619A>G	ENST00000375213.3	+	3	324	c.246A>G	c.(244-246)acA>acG	p.T82T	MLTK_ENST00000480606.1_3'UTR|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Splice_Site_p.T82T|MLTK_ENST00000431503.2_5'UTR|MLTK_ENST00000539448.1_Splice_Site_p.T82T|MLTK_ENST00000409176.2_Splice_Site_p.T82T	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GCATTGTCACAGGTAAGAATT	0.343																																																	0								ENSG00000091436						129.0	126.0	127.0					2																	174034619		2203	4300	6503	MLTK	SO:0001630	splice_region_variant	0			-	Uniprot_gn																												ENST00000375213.3:c.247+1A>G	2.37:g.174034619A>G		Somatic	0	26	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T82	ENST00000375213.3	37	c.246	CCDS42777.1	2																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.343	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	protein_coding	OTTHUMT00000255401.1	A		-	Silent	174034619	+1	no_errors	ENST00000375213	ensembl	human	known	74_37	silent	SNP	1.000	G
NARS2	79731	genome.wustl.edu	37	11	78154811	78154811	+	Intron	DEL	A	A	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:78154811delA	ENST00000281038.5	-	12	1540				RP11-452H21.1_ENST00000534168.1_RNA|NARS2_ENST00000528850.1_Intron	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CAACCTAAGGAAAAAAAAAAA	0.393																																																	0								ENSG00000254420						35.0	37.0	36.0					11																	78154811		2200	4292	6492	RP11-452H21.1	SO:0001627	intron_variant	0				Clone_based_vega_gene	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1165-7T>-	11.37:g.78154811delA		Somatic	0	20	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	G3V178	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000281038.5	37	NULL	CCDS8261.1	11																																																																																			-	-		0.393	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254420	protein_coding	OTTHUMT00000391138.2	A	NM_024678			78154811	+1	no_errors	ENST00000534168	ensembl	human	known	74_37	rna	DEL	0.000	-
ALLC	55821	genome.wustl.edu	37	2	3727502	3727502	+	Silent	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:3727502C>T	ENST00000252505.3	+	5	378	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	91					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AAGGAGTCATCCGGGGCTTCG	0.552										HNSCC(21;0.051)																																							0								ENSG00000151360						151.0	161.0	158.0					2																	3727502		2131	4224	6355	ALLC	SO:0001819	synonymous_variant	0			-	HGNC	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.216C>T	2.37:g.3727502C>T		Somatic	0	45	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.I72	ENST00000252505.3	37	c.216	CCDS46223.1	2																																																																																			-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase		0.552	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	protein_coding	OTTHUMT00000322855.1	C		-		3727502	+1	no_errors	ENST00000252505	ensembl	human	known	74_37	silent	SNP	0.998	T
SSPO	23145	genome.wustl.edu	37	7	149516516	149516517	+	RNA	INS	-	-	CGT	rs559607566	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:149516516_149516517insCGT	ENST00000378016.2	+	0	11919_11920							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCGGGCATACCGTCCCCCTGG	0.708														3	0.000599042	0.0008	0.0	5008	,	,		15630	0.0		0.002	False		,,,				2504	0.0																0								ENSG00000197558			2,3756		0,2,1877						2.2	0.3			18	19,7869		0,19,3925	no	coding	SSPO	NM_198455.2		0,21,5802	A1A1,A1R,RR		0.2409,0.0532,0.1803				21,11625				SSPO			0				HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516517_149516519dupCGT		Somatic	0	12	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	8	57.89	Q76B61	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.708	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		-				149516517	+1	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	INS	0.986:0.197	CGT
RPS2	6187	genome.wustl.edu	37	16	2015016	2015073	+	5'Flank	DEL	CACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC	CACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC	-	rs74002749|rs141736343|rs548162749|rs559151369|rs118047079|rs528115967|rs568373363	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	CACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC	CACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:2015016_2015073delCACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC	ENST00000343262.4	-	0	0				SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA|RNF151_ENST00000569210.2_5'Flank|RPS2_ENST00000526522.1_5'Flank|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000529806.1_5'Flank|RNF151_ENST00000569714.1_5'Flank|RPS2_ENST00000530225.1_5'Flank|RNF151_ENST00000321392.3_5'Flank	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GAATCTACGTCACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATCCACCCGAAGA	0.647																																																	0								ENSG00000255198																																			SNHG9	SO:0001631	upstream_gene_variant	0				HGNC	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708		16.37:g.2015016_2015073delCACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC	Exception_encountered	Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2R5G0|D3DU82|Q3MIB1	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000343262.4	37	NULL	CCDS10452.1	16																																																																																			-	-		0.647	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNHG9	protein_coding	OTTHUMT00000250613.2	CACCCGAAAAGCGACTATAAACGCCGGCGCCTCCGTCCCCAGCCGCGGCTCGGGAATC	NM_002952			2015073	+1	no_errors	ENST00000531523	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.005:0.009:0.012:0.014:0.016:0.016:0.003:0.000:0.000:0.001:0.001:0.003:0.004:0.005:0.005:0.005:0.005:0.004:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.001:0.000:0.000:0.000:0.000	-
AC018630.1	0	genome.wustl.edu	37	12	11187132	11187133	+	In_Frame_Ins	INS	-	-	TTG	rs371394829		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:11187132_11187133insTTG	ENST00000601123.1	+	1	46_47	c.46_47insTTG	c.(46-48)tct>tTTGct	p.16_16S>FA	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron																							attattattttctaaacattca	0.277																																																	0								ENSG00000268301																																			AC018630.1	SO:0001652	inframe_insertion	0				Clone_based_ensembl_gene																												Exception_encountered	12.37:g.11187132_11187133insTTG	ENSP00000473087:p.Ser16delinsPheAla	Somatic	0	11	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11		In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.S16in_frame_insFA	ENST00000601123.1	37	c.46_47		12																																																																																			-	NULL		0.277	AC018630.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000268301	protein_coding		-				11187133	+1	no_errors	ENST00000601123	ensembl	human	novel	74_37	in_frame_ins	INS	0.012:0.013	TTG
TTN	7273	genome.wustl.edu	37	2	179584151	179584151	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:179584151C>A	ENST00000591111.1	-	81	23239	c.23015G>T	c.(23014-23016)cGc>cTc	p.R7672L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7989L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R6745L			Q8WZ42	TITIN_HUMAN	titin	13216	Ig-like 59.				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)	p.R6745H(1)		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)			TTTCAGCTTGCGGATGAAGGA	0.512																																																	1	Substitution - Missense(1)	ovary(1)						ENSG00000155657						79.0	81.0	80.0					2																	179584151		1909	4124	6033	TTN	SO:0001583	missense	0			-	HGNC	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.23015G>T	2.37:g.179584151C>A	ENSP00000465570:p.Arg7672Leu	Somatic	0	37	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom	p.R6745L	ENST00000591111.1	37	c.20234		2	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985090	0.35036	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76292	0.3967	L	0.42744	1.35	0.80722	D	1	D	0.63046	0.992	P	0.60236	0.871	T	0.76429	-0.2962	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7672	Q8WZ42	TITIN_HUMAN	L	6745	ENSP00000343764:R6745L	ENSP00000343764:R6745L	R	-	2	0	TTN	179292396	0.947000	0.32204	1.000000	0.80357	0.989000	0.77384	1.414000	0.34736	2.894000	0.99253	0.655000	0.94253	CGC	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom		0.512	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179584151	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.989	A
CPSF1	29894	genome.wustl.edu	37	8	145625525	145625526	+	Intron	DEL	CC	CC	-	rs145341443		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:145625525_145625526delCC	ENST00000349769.3	-	9	1032				MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGTccccggcccccccccccc	0.708																																					NSCLC(133;1088 1848 27708 34777 35269)												0								ENSG00000221802																																			MIR1234	SO:0001627	intron_variant	0				HGNC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.937+33GG>-	8.37:g.145625535_145625536delCC		Somatic	0	15	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q96AF0	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000349769.3	37	NULL	CCDS34966.1	8																																																																																			-	-		0.708	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1234	protein_coding	OTTHUMT00000382422.2	CC	NM_013291			145625526	-1	no_errors	ENST00000408875	ensembl	human	known	74_37	rna	DEL	0.002:0.002	-
HBD	3045	genome.wustl.edu	37	11	5254013	5254013	+	IGR	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:5254013G>T	ENST00000380299.3	-	0	785				HBD_ENST00000292901.3_Missense_Mutation_p.P111T	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta						blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGCCTCAGGAACCTTCTTA	0.388																																																	0								ENSG00000223609						30.0	29.0	29.0					11																	5254013		874	1989	2863	HBD	SO:0001628	intergenic_variant	0			-	HGNC	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674		11.37:g.5254013G>T		Somatic	0	36	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	58	14.71	Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.P111T	ENST00000380299.3	37	c.331	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	g	3.662	-0.069237	0.07228	.	.	ENSG00000223609	ENST00000292901	D	0.91686	-2.89	4.99	-4.31	0.03698	.	.	.	.	.	D	0.87755	0.6257	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.80269	-0.1453	6	0.87932	D	0	.	3.6943	0.08358	0.3877:0.0:0.2172:0.395	.	.	.	.	T	111	ENSP00000292901:P111T	ENSP00000292901:P111T	P	-	1	0	HBD	5210589	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.050000	0.11904	-0.408000	0.07565	-0.854000	0.03029	CCT	-	NULL		0.388	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	protein_coding	OTTHUMT00000142970.1	G	NM_000519	-		5254013	-1	no_errors	ENST00000292901	ensembl	human	putative	74_37	missense	SNP	0.000	T
MTTP	4547	genome.wustl.edu	37	4	100530103	100530103	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:100530103C>A	ENST00000265517.5	+	12	1941	c.1738C>A	c.(1738-1740)Caa>Aaa	p.Q580K	MTTP_ENST00000457717.1_Missense_Mutation_p.Q580K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.Q607K			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	580	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CGCCATTGTTCAAGACATCCT	0.403																																																	0								ENSG00000138823						134.0	129.0	131.0					4																	100530103		2203	4300	6503	MTTP	SO:0001583	missense	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1738C>A	4.37:g.100530103C>A	ENSP00000265517:p.Gln580Lys	Somatic	0	9	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q580K	ENST00000265517.5	37	c.1738	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189049	0.38707	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.66995	-0.24;-0.24;-0.24	5.0	4.15	0.48705	Lipid transport protein, N-terminal (2);Vitellinogen, superhelical (2);	0.165052	0.56097	D	0.000039	T	0.60340	0.2261	L	0.58669	1.825	0.52501	D	0.999958	B;B	0.23735	0.025;0.09	B;B	0.28385	0.031;0.089	T	0.56450	-0.7977	10	0.02654	T	1	-28.3572	15.6762	0.77326	0.0:0.8624:0.1376:0.0	.	607;580	E9PBP6;P55157	.;MTP_HUMAN	K	607;580;580	ENSP00000427679:Q607K;ENSP00000400821:Q580K;ENSP00000265517:Q580K	ENSP00000265517:Q580K	Q	+	1	0	MTTP	100749126	1.000000	0.71417	0.781000	0.31783	0.846000	0.48090	4.402000	0.59722	1.210000	0.43336	-0.176000	0.13171	CAA	-	superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	C		-		100530103	+1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	SNP	1.000	A
NTN4	59277	genome.wustl.edu	37	12	96059706	96059706	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:96059706C>G	ENST00000343702.4	-	9	2078	c.1630G>C	c.(1630-1632)Gtc>Ctc	p.V544L	NTN4_ENST00000553059.1_Missense_Mutation_p.V521L|NTN4_ENST00000344911.4_Missense_Mutation_p.V507L|NTN4_ENST00000538383.1_Missense_Mutation_p.V507L|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	544	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCACATTGACCTCAACATGA	0.338																																																	0								ENSG00000074527						106.0	98.0	101.0					12																	96059706		2203	4300	6503	NTN4	SO:0001583	missense	0			-	HGNC	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1630G>C	12.37:g.96059706C>G	ENSP00000340998:p.Val544Leu	Somatic	0	26	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	26	44.68	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.V544L	ENST00000343702.4	37	c.1630	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530119	0.85706	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.91	5.91	0.95273	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.55213	1.73	0.54753	D	0.999981	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.889	T	0.02705	-1.1121	10	0.33141	T	0.24	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	521;544	Q9HB63-2;Q9HB63	.;NET4_HUMAN	L	544;507;507;521	ENSP00000340998:V544L;ENSP00000339436:V507L;ENSP00000444432:V507L;ENSP00000447292:V521L	ENSP00000340998:V544L	V	-	1	0	NTN4	94583837	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.070000	0.76763	2.802000	0.96397	0.655000	0.94253	GTC	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.338	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	protein_coding	OTTHUMT00000408372.1	C	NM_021229	-		96059706	-1	no_errors	ENST00000343702	ensembl	human	known	74_37	missense	SNP	1.000	G
ERVK13-1	100507321	genome.wustl.edu	37	16	2712500	2712501	+	RNA	INS	-	-	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:2712500_2712501insT	ENST00000568395.1	-	0	4226_4227					NR_040023.1		Q9NX77	ENK13_HUMAN	endogenous retrovirus group K13, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)	structural molecule activity (GO:0005198)										agcataaggtatttttgctgga	0.416																																																	0								ENSG00000260565																																			ERVK13-1			0				HGNC			16p13.3	2011-12-16				ENSG00000260565			27548	other	endogenous retrovirus	"""HERV-K_16p3.3 provirus ancestral Env polyprotein"""						Standard	NR_040023		Approved		uc010bss.2	Q9NX77			16.37:g.2712505_2712505dupT		Somatic	0	21	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A8K9G3	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000568395.1	37	NULL		16																																																																																			-	-		0.416	ERVK13-1-001	KNOWN	basic	lincRNA	ERVK13-1	processed_transcript	OTTHUMT00000431428.1	-	NR_040023			2712501	-1	no_errors	ENST00000568395	ensembl	human	known	74_37	rna	INS	0.093:0.090	T
FRK	2444	genome.wustl.edu	37	6	116288797	116288797	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:116288797C>T	ENST00000606080.1	-	4	1162	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	FRK_ENST00000538210.1_Missense_Mutation_p.R97Q	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGATCCCAATCGCTTCAGAAG	0.448																																																	0								ENSG00000111816						165.0	152.0	156.0					6																	116288797		2203	4300	6503	FRK	SO:0001583	missense	0			-	HGNC	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.716G>A	6.37:g.116288797C>T	ENSP00000476145:p.Arg239Gln	Somatic	0	46	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.R239Q	ENST00000606080.1	37	c.716	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740858	0.49151	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.26067	1.76;1.76	5.36	3.46	0.39613	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.227351	0.28301	N	0.015843	T	0.06416	0.0165	L	0.33624	1.015	0.33377	D	0.574293	B	0.28439	0.212	B	0.18561	0.022	T	0.19224	-1.0312	10	0.49607	T	0.09	.	2.3622	0.04310	0.2672:0.4916:0.0:0.2412	.	239	P42685	FRK_HUMAN	Q	239;97	ENSP00000357615:R239Q;ENSP00000443075:R97Q	ENSP00000357615:R239Q	R	-	2	0	FRK	116395490	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.751000	0.47508	2.657000	0.90304	0.650000	0.86243	CGA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.448	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	protein_coding	OTTHUMT00000041924.2	C	NM_002031	-		116288797	-1	no_errors	ENST00000606080	ensembl	human	known	74_37	missense	SNP	0.997	T
LILRB1	10859	genome.wustl.edu	37	19	55146164	55146164	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:55146164T>G	ENST00000396331.1	+	11	1790	c.1433T>G	c.(1432-1434)cTc>cGc	p.L478R	LILRB1_ENST00000396327.3_Missense_Mutation_p.L479R|LILRB1_ENST00000448689.1_Missense_Mutation_p.L478R|LILRB1_ENST00000434867.2_Missense_Mutation_p.L478R|LILRB1_ENST00000418536.2_Missense_Mutation_p.L462R|LILRB1_ENST00000396321.2_Missense_Mutation_p.L478R|LILRB1_ENST00000396332.4_Missense_Mutation_p.L478R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.L462R|LILRB1_ENST00000396315.1_Missense_Mutation_p.L479R|LILRB1_ENST00000427581.2_Missense_Mutation_p.L528R|LILRB1_ENST00000324602.7_Missense_Mutation_p.L479R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	478					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ctcctcctcctcctcttcctc	0.612										HNSCC(37;0.09)																																							0								ENSG00000104972						133.0	113.0	120.0					19																	55146164		2203	4300	6503	LILRB1	SO:0001583	missense	0			-	HGNC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1433T>G	19.37:g.55146164T>G	ENSP00000379622:p.Leu478Arg	Somatic	0	36	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L479R	ENST00000396331.1	37	c.1436	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582818	0.28268	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00580	6.53;6.74;6.43;6.53;6.56;6.56;6.53;6.53;6.66;6.74;6.56	0.822	0.822	0.18806	.	3.215830	0.01930	N	0.041152	T	0.02342	0.0072	M	0.82323	2.585	0.09310	N	1	B;B;P;B;D;D	0.60160	0.102;0.049;0.923;0.022;0.973;0.987	B;B;P;B;P;P	0.59825	0.052;0.027;0.504;0.032;0.864;0.794	T	0.38023	-0.9680	10	0.87932	D	0	.	3.8571	0.08981	0.0:0.0:0.0:1.0	.	462;478;479;478;479;478	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	R	478;462;478;478;479;479;478;478;528;462;479	ENSP00000379614:L478R;ENSP00000391514:L462R;ENSP00000409968:L478R;ENSP00000379622:L478R;ENSP00000379618:L479R;ENSP00000315997:L479R;ENSP00000405243:L478R;ENSP00000379623:L478R;ENSP00000395004:L528R;ENSP00000379610:L462R;ENSP00000379608:L479R	ENSP00000315997:L479R	L	+	2	0	LILRB1	59837976	0.002000	0.14202	0.010000	0.14722	0.039000	0.13416	-0.091000	0.11146	0.598000	0.29829	0.155000	0.16302	CTC	-	NULL		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	protein_coding	OTTHUMT00000140796.4	T		-		55146164	+1	no_errors	ENST00000324602	ensembl	human	known	74_37	missense	SNP	0.012	G
HIVEP3	59269	genome.wustl.edu	37	1	42046088	42046088	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:42046088T>A	ENST00000372583.1	-	4	5266	c.4381A>T	c.(4381-4383)Aaa>Taa	p.K1461*	HIVEP3_ENST00000372584.1_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.K1461*|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1461					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGCTCAAGTTTTTCATCTGCC	0.522																																																	0								ENSG00000127124						105.0	107.0	107.0					1																	42046088		2203	4300	6503	HIVEP3	SO:0001587	stop_gained	0			-	HGNC	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4381A>T	1.37:g.42046088T>A	ENSP00000361664:p.Lys1461*	Somatic	0	52	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	67	18.29	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1461*	ENST00000372583.1	37	c.4381	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	T	49	16.018718	0.99852	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	.	.	.	5.37	5.37	0.77165	.	0.226096	0.31102	N	0.008254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0063	11.2316	0.48916	0.0:0.0:0.1531:0.8469	.	.	.	.	X	1461	.	ENSP00000247584:K1461X	K	-	1	0	HIVEP3	41818675	0.760000	0.28428	0.997000	0.53966	0.997000	0.91878	2.900000	0.48687	2.254000	0.74563	0.533000	0.62120	AAA	-	NULL		0.522	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	protein_coding	OTTHUMT00000016978.1	T	NM_024503	-		42046088	-1	no_errors	ENST00000247584	ensembl	human	known	74_37	nonsense	SNP	0.900	A
DNAH17	8632	genome.wustl.edu	37	17	76506478	76506478	+	Silent	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:76506478C>A	ENST00000585328.1	-	27	4339	c.4215G>T	c.(4213-4215)tcG>tcT	p.S1405S	DNAH17_ENST00000389840.5_Silent_p.S1404S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1404	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTTCCATGCCCGACTCCTTCA	0.582																																																	0								ENSG00000187775						174.0	176.0	176.0					17																	76506478		2111	4232	6343	DNAH17	SO:0001819	synonymous_variant	0			-	HGNC	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4215G>T	17.37:g.76506478C>A		Somatic	0	27	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	19	34.48	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.S1404	ENST00000585328.1	37	c.4212		17																																																																																			-	pfam_Dynein_heavy_dom-2		0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	protein_coding	OTTHUMT00000318962.2	C	NM_173628	-		76506478	-1	no_errors	ENST00000389840	ensembl	human	known	74_37	silent	SNP	0.013	A
TPD52L1	7164	genome.wustl.edu	37	6	125550267	125550267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:125550267G>T	ENST00000534000.1	+	3	435	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	TPD52L1_ENST00000368388.2_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000534199.1_Nonsense_Mutation_p.E18*|TPD52L1_ENST00000368402.5_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000532429.1_Nonsense_Mutation_p.E18*|TPD52L1_ENST00000304877.13_Nonsense_Mutation_p.E47*|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000528193.1_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000392482.2_Nonsense_Mutation_p.E18*|TPD52L1_ENST00000527711.1_Nonsense_Mutation_p.E47*|TPD52L1_ENST00000524679.1_Nonsense_Mutation_p.E18*	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	47					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTTGTAGCTAGAAGACGAAAT	0.428																																																	0								ENSG00000111907						69.0	63.0	65.0					6																	125550267		2203	4300	6503	TPD52L1	SO:0001587	stop_gained	0			-	HGNC	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.139G>T	6.37:g.125550267G>T	ENSP00000434142:p.Glu47*	Somatic	0	36	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPD52	p.E47*	ENST00000534000.1	37	c.139	CCDS5130.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.825556	0.98510	.	.	ENSG00000111907	ENST00000534368;ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.8757	19.3517	0.94389	0.0:0.0:1.0:0.0	.	.	.	.	X	18;47;47;47;47;47;47;18;18;18;18;47	.	ENSP00000306285:E47X	E	+	1	0	TPD52L1	125591966	1.000000	0.71417	0.974000	0.42286	0.731000	0.41821	9.386000	0.97228	2.659000	0.90383	0.585000	0.79938	GAA	-	pfam_TPD52		0.428	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	protein_coding	OTTHUMT00000042065.2	G		-		125550267	+1	no_errors	ENST00000534000	ensembl	human	known	74_37	nonsense	SNP	1.000	T
DRC1	92749	genome.wustl.edu	37	2	26676386	26676386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:26676386G>T	ENST00000288710.2	+	14	1962	c.1888G>T	c.(1888-1890)Gag>Tag	p.E630*		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	630					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAAGATTCTGGAGGCCTTCGT	0.602																																																	0								ENSG00000157856						57.0	59.0	58.0					2																	26676386		2203	4300	6503	DRC1	SO:0001587	stop_gained	0			-	HGNC	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1888G>T	2.37:g.26676386G>T	ENSP00000288710:p.Glu630*	Somatic	0	27	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E630*	ENST00000288710.2	37	c.1888	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.752511	0.96890	.	.	ENSG00000157856	ENST00000288710	.	.	.	5.03	3.19	0.36642	.	0.212051	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-22.1294	7.1542	0.25628	0.3313:0.0:0.6687:0.0	.	.	.	.	X	630	.	ENSP00000288710:E630X	E	+	1	0	CCDC164	26529890	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.355000	0.20163	1.255000	0.44051	0.609000	0.83330	GAG	-	NULL		0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	protein_coding	OTTHUMT00000246862.1	G	NM_145038	-		26676386	+1	no_errors	ENST00000288710	ensembl	human	known	74_37	nonsense	SNP	1.000	T
GNAS	2778	genome.wustl.edu	37	20	57464277	57464278	+	5'Flank	INS	-	-	CGGCG	rs370277950|rs143800311	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:57464277_57464278insCGGCG	ENST00000371085.3	+	0	0				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Intron|RP1-309F20.3_ENST00000441270.2_RNA|GNAS_ENST00000306090.10_5'Flank|RP1-309F20.3_ENST00000424434.1_RNA|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000371095.3_5'Flank|GNAS_ENST00000354359.7_5'Flank|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_Intron|GNAS_ENST00000265620.7_5'Flank|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371081.1_5'Flank	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGTGGCTGGCCGGCGCGGCGC	0.792			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				2796	0.558307	0.4145	0.5764	5008	,	,		4078	0.6994		0.5348	False		,,,				2504	0.6186				Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0								ENSG00000087460																																			GNAS	SO:0001631	upstream_gene_variant	0				HGNC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069		20.37:g.57464283_57464287dupCGGCG	Exception_encountered	Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000371085.3	37	NULL	CCDS13472.1	20																																																																																			-	-		0.792	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	protein_coding	OTTHUMT00000080431.2	-	NM_000516			57464278	+1	no_errors	ENST00000469431	ensembl	human	known	74_37	rna	INS	0.949:0.921	CGGCG
TUBB2B	347733	genome.wustl.edu	37	6	3225063	3225063	+	Silent	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:3225063G>T	ENST00000259818.7	-	4	1451	c.1260C>A	c.(1258-1260)tcC>tcA	p.S420S	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	420					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCTGGTACTCGGACACCAGGT	0.642																																																	0								ENSG00000137285						47.0	34.0	39.0					6																	3225063		2202	4282	6484	TUBB2B	SO:0001819	synonymous_variant	0			-	HGNC	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.1260C>A	6.37:g.3225063G>T		Somatic	0	26	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A8K068	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.S420	ENST00000259818.7	37	c.1260	CCDS4485.1	6																																																																																			-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin		0.642	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	protein_coding	OTTHUMT00000039680.2	G	NM_178012	-		3225063	-1	no_errors	ENST00000259818	ensembl	human	known	74_37	silent	SNP	0.493	T
C7orf31	136895	genome.wustl.edu	37	7	25194754	25194754	+	Silent	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:25194754G>A	ENST00000409280.1	-	6	779	c.471C>T	c.(469-471)ggC>ggT	p.G157G	C7orf31_ENST00000283905.3_Silent_p.G157G			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	157										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGAACATGGCGCCGCGACAGA	0.502																																																	0								ENSG00000153790						125.0	130.0	128.0					7																	25194754		2203	4300	6503	C7orf31	SO:0001819	synonymous_variant	0			-	HGNC	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.471C>T	7.37:g.25194754G>A		Somatic	0	39	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	38	29.63	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G157	ENST00000409280.1	37	c.471	CCDS5394.1	7																																																																																			-	NULL		0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	protein_coding	OTTHUMT00000326929.1	G	NM_138811	-		25194754	-1	no_errors	ENST00000283905	ensembl	human	known	74_37	silent	SNP	0.006	A
MBD1	4152	genome.wustl.edu	37	18	47796413	47796413	+	3'UTR	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:47796413C>G	ENST00000591416.1	-	0	3707				MBD1_ENST00000590208.1_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.D541H|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000588937.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TCATATAGATCATTGTCAAAA	0.398																																																	0								ENSG00000141644						123.0	121.0	121.0					18																	47796413		876	1991	2867	MBD1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.*1458G>C	18.37:g.47796413C>G		Somatic	0	27	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.D541H	ENST00000591416.1	37	c.1621	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	C	2.550	-0.304231	0.05495	.	.	ENSG00000141644	ENST00000339998	D	0.95853	-3.83	3.94	0.202	0.15190	.	.	.	.	.	D	0.90480	0.7018	.	.	.	0.09310	N	0.999993	P	0.39624	0.681	B	0.34242	0.178	T	0.82810	-0.0273	8	0.72032	D	0.01	.	6.177	0.20449	0.0:0.5536:0.0:0.4464	.	541	Q9UIS9-6	.	H	541	ENSP00000339546:D541H	ENSP00000339546:D541H	D	-	1	0	MBD1	46050411	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-0.034000	0.12225	0.010000	0.14839	0.655000	0.94253	GAT	-	NULL		0.398	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	protein_coding	OTTHUMT00000255926.3	C	NM_015846	-		47796413	-1	no_errors	ENST00000339998	ensembl	human	known	74_37	missense	SNP	0.000	G
COX6A2	1339	genome.wustl.edu	37	16	31439619	31439619	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:31439619G>A	ENST00000287490.4	-	1	130	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_005205.3	NP_005196.1	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	10					generation of precursor metabolites and energy (GO:0006091)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(2)|lung(1)	5						GCCAAGCCCCGGGTCAGGGGC	0.692																																																	0								ENSG00000156885						16.0	17.0	17.0					16																	31439619		2190	4297	6487	COX6A2	SO:0001583	missense	0			-	HGNC	U66875, M83308	CCDS10712.1	16p11.12	2011-07-04			ENSG00000156885	ENSG00000156885	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2279	protein-coding gene	gene with protein product		602009				1327966, 9177785	Standard	NM_005205		Approved		uc002ebx.2	Q02221	OTTHUMG00000132463	ENST00000287490.4:c.28C>T	16.37:g.31439619G>A	ENSP00000287490:p.Arg10Trp	Somatic	0	60	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	64	8.57	O00761|Q6GTW6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_c_oxidase_su6a,superfamily_Cyt_c_oxidase_su6a,pirsf_Cyt_c_oxidase_su6a	p.R10W	ENST00000287490.4	37	c.28	CCDS10712.1	16	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821094	0.71028	.	.	ENSG00000156885	ENST00000287490	.	.	.	4.49	-0.346	0.12620	.	0.361143	0.27004	N	0.021405	T	0.63414	0.2509	.	.	.	0.26538	N	0.974135	D	0.89917	1.0	D	0.87578	0.998	T	0.57963	-0.7720	8	0.87932	D	0	-10.7204	10.9807	0.47492	0.0:0.0:0.3429:0.6571	.	10	Q02221	CX6A2_HUMAN	W	10	.	ENSP00000287490:R10W	R	-	1	2	COX6A2	31347120	0.001000	0.12720	0.445000	0.26908	0.976000	0.68499	-0.614000	0.05604	0.181000	0.19994	0.563000	0.77884	CGG	-	pirsf_Cyt_c_oxidase_su6a		0.692	COX6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6A2	protein_coding	OTTHUMT00000255626.2	G	NM_005205	-		31439619	-1	no_errors	ENST00000287490	ensembl	human	known	74_37	missense	SNP	0.426	A
MOG	4340	genome.wustl.edu	37	6	29625018	29625018	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:29625018G>A	ENST00000376917.3	+	1	261	c.32G>A	c.(31-33)aGc>aAc	p.S11N	MOG_ENST00000533330.2_Missense_Mutation_p.S11N|MOG_ENST00000431798.2_Missense_Mutation_p.S11N|MOG_ENST00000494692.1_Missense_Mutation_p.S11N|MOG_ENST00000416766.2_Missense_Mutation_p.S11N|MOG_ENST00000483013.1_Missense_Mutation_p.S11N|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Missense_Mutation_p.S11N|MOG_ENST00000376902.3_Missense_Mutation_p.S11N|MOG_ENST00000396701.2_Missense_Mutation_p.S11N|MOG_ENST00000376898.3_Missense_Mutation_p.S11N|MOG_ENST00000376888.2_Missense_Mutation_p.S11N|MOG_ENST00000376894.4_Missense_Mutation_p.S11N|MOG_ENST00000376891.4_Missense_Mutation_p.S11N|MOG_ENST00000396704.3_Missense_Mutation_p.S11N	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	11					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTCTGCCCAGCTGCCTCTGC	0.567																																																	0								ENSG00000204655						106.0	62.0	78.0					6																	29625018		1510	2709	4219	MOG	SO:0001583	missense	0			-	HGNC		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.32G>A	6.37:g.29625018G>A	ENSP00000366115:p.Ser11Asn	Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S11N	ENST00000376917.3	37	c.32	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	6.178	0.400938	0.11696	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376888;ENST00000376894;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34667	3.42;3.45;3.45;1.41;3.39;1.37;1.35;3.25;3.4;3.41;3.41;3.39;3.38;3.39	4.58	3.68	0.42216	.	0.270364	0.32703	N	0.005741	T	0.16171	0.0389	L	0.27053	0.805	0.22330	N	0.999199	P;P;B;B;B;B;B;P;B;B;B;P;B	0.40731	0.557;0.728;0.421;0.403;0.275;0.403;0.403;0.557;0.18;0.275;0.403;0.557;0.421	B;P;B;B;B;B;B;B;B;B;B;B;B	0.44359	0.295;0.447;0.073;0.172;0.056;0.158;0.172;0.221;0.025;0.121;0.221;0.152;0.108	T	0.03175	-1.1064	10	0.87932	D	0	.	10.6085	0.45408	0.0:0.1951:0.8049:0.0	.	11;11;11;11;11;11;11;11;11;11;11;11;11	E9PG44;E9PGF0;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-4;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;.;MOG_HUMAN;.;.;.;.	N	11	ENSP00000366115:S11N;ENSP00000366100:S11N;ENSP00000431709:S11N;ENSP00000366085:S11N;ENSP00000366091:S11N;ENSP00000418090:S11N;ENSP00000420350:S11N;ENSP00000409394:S11N;ENSP00000366088:S11N;ENSP00000366095:S11N;ENSP00000410866:S11N;ENSP00000379929:S11N;ENSP00000417405:S11N;ENSP00000379932:S11N	ENSP00000366085:S11N	S	+	2	0	MOG	29732997	0.302000	0.24454	0.772000	0.31596	0.128000	0.20619	2.458000	0.45014	1.228000	0.43614	0.655000	0.94253	AGC	-	pirsf_Myelin-oligodendrocyte_glycop		0.567	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	protein_coding	OTTHUMT00000076160.3	G	NM_002433	-		29625018	+1	no_errors	ENST00000376898	ensembl	human	known	74_37	missense	SNP	0.827	A
PHACTR2	9749	genome.wustl.edu	37	6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0								ENSG00000112419																																			PHACTR2	SO:0001589	frameshift_variant	0				HGNC	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs	Somatic	0	28	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.N206fs	ENST00000427704.2	37	c.612_613	CCDS47492.1	6																																																																																			-	NULL		0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	protein_coding	OTTHUMT00000042528.2	-	NM_014721			144081696	+1	no_errors	ENST00000440869	ensembl	human	known	74_37	frame_shift_ins	INS	0.998:1.000	A
FAM135B	51059	genome.wustl.edu	37	8	139323106	139323106	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:139323106A>C	ENST00000395297.1	-	3	305	c.135T>G	c.(133-135)agT>agG	p.S45R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	45										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGATGGAGGCACTCAGTCTGT	0.552										HNSCC(54;0.14)																																							0								ENSG00000147724						84.0	81.0	82.0					8																	139323106		2003	4168	6171	FAM135B	SO:0001583	missense	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.135T>G	8.37:g.139323106A>C	ENSP00000378710:p.Ser45Arg	Somatic	0	22	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S45R	ENST00000395297.1	37	c.135	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250388	0.59212	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.15139	2.45	5.1	-3.61	0.04556	.	1.242550	0.06046	U	0.655675	T	0.28300	0.0699	L	0.36672	1.1	0.27108	N	0.962456	D	0.71674	0.998	D	0.80764	0.994	T	0.41858	-0.9485	10	0.37606	T	0.19	-10.0084	10.7916	0.46436	0.4818:0.0:0.5182:0.0	.	45	Q49AJ0	F135B_HUMAN	R	45	ENSP00000378710:S45R	ENSP00000160713:S45R	S	-	3	2	FAM135B	139392288	0.942000	0.31987	0.976000	0.42696	0.993000	0.82548	-0.220000	0.09215	-0.632000	0.05553	0.533000	0.62120	AGT	-	NULL		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	A	NM_015912	-		139323106	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	SNP	0.982	C
SCOC	60592	genome.wustl.edu	37	4	141294859	141294859	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:141294859C>A	ENST00000608372.1	+	1	196	c.169C>A	c.(169-171)Cct>Act	p.P57T	SCOC_ENST00000506597.1_Missense_Mutation_p.P57T|RP11-425I13.3_ENST00000609616.1_RNA|SCOC_ENST00000394205.3_Intron|SCOC_ENST00000506322.1_Intron|SCOC_ENST00000394201.4_5'UTR|SCOC_ENST00000338517.4_Intron|SCOC_ENST00000394203.3_Intron|SCOC_ENST00000502535.1_5'Flank|RP11-425I13.3_ENST00000608178.1_RNA|SCOC_ENST00000510586.1_5'UTR|SCOC_ENST00000512749.1_Intron|RP11-425I13.3_ENST00000512692.2_RNA			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	57					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					TCTCCCGGCGCCTCAAGCGGA	0.721																																																	0								ENSG00000153130						28.0	31.0	30.0					4																	141294859		692	1591	2283	SCOC	SO:0001583	missense	0			-	HGNC	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.169C>A	4.37:g.141294859C>A	ENSP00000477352:p.Pro57Thr	Somatic	0	60	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	53	26.39	B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF2205_coiled-coil	p.P57T	ENST00000608372.1	37	c.169	CCDS54806.1	4	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371488	0.24771	.	.	ENSG00000153130	ENST00000394201;ENST00000506597	.	.	.	5.27	4.43	0.53597	.	1.002640	0.08039	N	0.994872	T	0.39064	0.1064	L	0.29908	0.895	0.31208	N	0.699039	B;B	0.30068	0.267;0.164	B;B	0.30029	0.11;0.06	T	0.41502	-0.9505	9	0.49607	T	0.09	-11.951	10.2289	0.43243	0.0:0.908:0.0:0.092	.	57;57	E9PB65;Q9UIL1	.;SCOC_HUMAN	T	57	.	ENSP00000377751:P57T	P	+	1	0	SCOC	141514309	0.003000	0.15002	0.003000	0.11579	0.012000	0.07955	1.233000	0.32648	1.357000	0.45904	0.563000	0.77884	CCT	-	NULL		0.721	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	protein_coding	OTTHUMT00000257274.2	C		-		141294859	+1	no_errors	ENST00000608372	ensembl	human	known	74_37	missense	SNP	0.015	A
ZPBP	11055	genome.wustl.edu	37	7	50070806	50070806	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:50070806C>G	ENST00000046087.2	-	5	657	c.588G>C	c.(586-588)caG>caC	p.Q196H	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.Q195H	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	196					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTTAAAATCTGAAGAAGTT	0.353																																																	0								ENSG00000042813						57.0	61.0	60.0					7																	50070806		2203	4299	6502	ZPBP	SO:0001583	missense	0			-	HGNC	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.588G>C	7.37:g.50070806C>G	ENSP00000046087:p.Gln196His	Somatic	0	30	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sp38-bd,pfscan_Ig-like_dom	p.Q196H	ENST00000046087.2	37	c.588	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083914	0.55861	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.54675	0.56;0.56	5.17	4.28	0.50868	.	0.100687	0.44097	D	0.000496	T	0.66297	0.2775	M	0.68317	2.08	0.36384	D	0.8621	D;D	0.71674	0.998;0.998	D;D	0.70935	0.971;0.971	T	0.72330	-0.4326	9	.	.	.	-9.5571	9.6886	0.40114	0.0:0.835:0.0:0.165	.	195;196	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	H	196;195	ENSP00000046087:Q196H;ENSP00000402071:Q195H	.	Q	-	3	2	ZPBP	50041352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.906000	0.28517	1.291000	0.44653	0.655000	0.94253	CAG	-	pfam_Sp38-bd		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	protein_coding	OTTHUMT00000251374.1	C	NM_007009	-		50070806	-1	no_errors	ENST00000046087	ensembl	human	known	74_37	missense	SNP	1.000	G
PTPRVP	148713	genome.wustl.edu	37	1	202156135	202156136	+	RNA	INS	-	-	CCTCGCTCCTCGCTCCTCGCT	rs369231344|rs139095833|rs78957599|rs368169635	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:202156135_202156136insCCTCGCTCCTCGCTCCTCGCT	ENST00000482597.1	+	0	3411_3412					NR_002930.2				protein tyrosine phosphatase, receptor type, V, pseudogene																		CTGCAGGCCCCcctcgctcctc	0.639																																																	0								ENSG00000243323																																			PTPRVP			0				HGNC	AJ629456		1q32.1	2013-09-26	2010-03-16	2010-03-16	ENSG00000243323	ENSG00000243323		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	13421	pseudogene	pseudogene				PTPRV		15358244	Standard	NR_002930		Approved	OST-PTP, ESP	uc009xaa.2		OTTHUMG00000040524		1.37:g.202156135_202156136insCCTCGCTCCTCGCTCCTCGCT		Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000482597.1	37	NULL		1																																																																																			-	-		0.639	PTPRVP-003	KNOWN	basic	processed_transcript	PTPRVP	pseudogene	OTTHUMT00000334021.1	-	XM_086287			202156136	+1	no_errors	ENST00000482597	ensembl	human	known	74_37	rna	INS	0.022:0.016	CCTCGCTCCTCGCTCCTCGCT
YBEY	54059	genome.wustl.edu	37	21	47707039	47707040	+	Splice_Site	INS	-	-	AA	rs71318058|rs202070025|rs530846715|rs58271568		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:47707039_47707040insAA	ENST00000329319.3	+	2	608		c.e2+2		YBEY_ENST00000397692.1_Intron|YBEY_ENST00000339195.6_Splice_Site|YBEY_ENST00000397691.1_Splice_Site|YBEY_ENST00000397694.1_Intron|MCM3AP_ENST00000397708.1_5'Flank|YBEY_ENST00000397701.4_Splice_Site|MCM3AP_ENST00000291688.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)						rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTTCATGAGGTAAAAAAAAAAT	0.351																																																	1	Unknown(1)	lung(1)						ENSG00000182362																																			YBEY	SO:0001630	splice_region_variant	0				HGNC	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.210+2->AA	21.37:g.47707048_47707049dupAA		Somatic	0	12	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B7WPA9|B7WPF7|D3DSN2	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e1+2	ENST00000329319.3	37	c.210+2_210+1	CCDS33591.1	21																																																																																			-	-		0.351	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	protein_coding	OTTHUMT00000207265.1	-	NM_058181		Intron	47707040	+1	no_errors	ENST00000329319	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.124	AA
DKC1	1736	genome.wustl.edu	37	X	154005089	154005091	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:154005089_154005091delAAG	ENST00000369550.5	+	15	1702_1704	c.1492_1494delAAG	c.(1492-1494)aagdel	p.K505del	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	505	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGATACCACCaagaagaagaaga	0.409									Congenital Dyskeratosis																																								0								ENSG00000130826																																			DKC1	SO:0001651	inframe_deletion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita		HGNC	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1492_1494delAAG	X.37:g.154005098_154005100delAAG	ENSP00000358563:p.Lys505del	Somatic	0	17	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	39	15.22	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.K501in_frame_del	ENST00000369550.5	37	c.1492_1494	CCDS14761.1	X																																																																																			-	NULL		0.409	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	protein_coding	OTTHUMT00000061180.5	AAG	NM_001363			154005091	+1	no_errors	ENST00000369550	ensembl	human	known	74_37	in_frame_del	DEL	0.284:0.284:0.273	-
FUNDC2P2	388965	genome.wustl.edu	37	2	84518513	84518513	+	RNA	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:84518513C>A	ENST00000331369.5	+	0	707									FUN14 domain containing 2 pseudogene 2																		CCTGCTGTGGCAAATCCGAGT	0.493																																																	0								ENSG00000182814																																			FUNDC2P2			0			-	HGNC			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518513C>A		Somatic	0	13	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000331369.5	37	NULL		2																																																																																			-	-		0.493	FUNDC2P2-001	KNOWN	basic	processed_transcript	FUNDC2P2	pseudogene	OTTHUMT00000333681.1	C	NR_003663	-		84518513	+1	no_errors	ENST00000331369	ensembl	human	known	74_37	rna	SNP	0.059	A
VAV1	7409	genome.wustl.edu	37	19	6833926	6833926	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr19:6833926T>A	ENST00000602142.1	+	19	1821	c.1739T>A	c.(1738-1740)cTa>cAa	p.L580Q	VAV1_ENST00000596764.1_Missense_Mutation_p.L548Q|VAV1_ENST00000539284.1_Missense_Mutation_p.L483Q|VAV1_ENST00000599806.1_Missense_Mutation_p.L525Q|VAV1_ENST00000304076.2_Missense_Mutation_p.L580Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	580					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGGACAAACTACATCGCAGG	0.537																																																	0								ENSG00000141968						98.0	102.0	101.0					19																	6833926		2203	4300	6503	VAV1	SO:0001583	missense	0			-	HGNC		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1739T>A	19.37:g.6833926T>A	ENSP00000472929:p.Leu580Gln	Somatic	0	54	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	93	8.74	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.L580Q	ENST00000602142.1	37	c.1739	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	5.722	0.317727	0.10845	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.76316	-0.04;-1.01	3.95	0.497	0.16902	.	2.234620	0.01848	N	0.035735	T	0.60366	0.2263	N	0.14661	0.345	0.28894	N	0.893695	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.48456	-0.9034	10	0.11794	T	0.64	.	5.9989	0.19509	0.0:0.5582:0.0:0.4418	.	483;580;525;580	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	580;483	ENSP00000302269:L580Q;ENSP00000443242:L483Q	ENSP00000302269:L580Q	L	+	2	0	VAV1	6784926	0.000000	0.05858	0.711000	0.30485	0.520000	0.34377	-1.015000	0.03637	-0.118000	0.11851	-0.415000	0.06103	CTA	-	NULL		0.537	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	protein_coding	OTTHUMT00000458475.1	T		-		6833926	+1	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	SNP	0.680	A
C6	729	genome.wustl.edu	37	5	41149350	41149350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:41149350delT	ENST00000263413.3	-	17	2880	c.2616delA	c.(2614-2616)aaafs	p.K872fs	C6_ENST00000337836.5_Frame_Shift_Del_p.K872fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	872	C5b-binding domain.|Factor I module (FIM) 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TACCTGAACATTTTTCCCAGT	0.408																																																	0								ENSG00000039537						254.0	247.0	249.0					5																	41149350		2203	4300	6503	C6	SO:0001589	frameshift_variant	0				HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2616delA	5.37:g.41149350delT	ENSP00000263413:p.Lys872fs	Somatic	0	36	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.K872fs	ENST00000263413.3	37	c.2616	CCDS3936.1	5																																																																																			-	smart_FacI_MAC		0.408	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	T				41149350	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	frame_shift_del	DEL	0.522	-
ASRGL1	80150	genome.wustl.edu	37	11	62105471	62105471	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:62105471C>T	ENST00000415229.2	+	2	237	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	ASRGL1_ENST00000535727.1_5'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.H8Y|RP11-703H8.7_ENST00000400902.4_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	8					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CGTAGTGGTCCACGGCGGCGG	0.657																																																	0								ENSG00000162174						18.0	15.0	16.0					11																	62105471		2201	4296	6497	ASRGL1	SO:0001583	missense	0			-	HGNC		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.22C>T	11.37:g.62105471C>T	ENSP00000400057:p.His8Tyr	Somatic	0	35	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_T2	p.H8Y	ENST00000415229.2	37	c.22	CCDS8019.1	11	.	.	.	.	.	.	.	.	.	.	c	18.23	3.578898	0.65878	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.88896	-2.44;-2.44	4.36	4.36	0.52297	.	0.114193	0.64402	D	0.000015	D	0.96815	0.8960	H	0.99582	4.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97292	0.9925	10	0.62326	D	0.03	-20.4722	12.2532	0.54610	0.0:1.0:0.0:0.0	.	8	Q7L266	ASGL1_HUMAN	Y	8	ENSP00000400057:H8Y;ENSP00000301776:H8Y	ENSP00000301776:H8Y	H	+	1	0	ASRGL1	61862047	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	4.627000	0.61276	2.255000	0.74692	0.555000	0.69702	CAC	-	pfam_Peptidase_T2		0.657	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASRGL1	protein_coding	OTTHUMT00000394865.1	C	NM_001083926	-		62105471	+1	no_errors	ENST00000301776	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM46D	169966	genome.wustl.edu	37	X	79699000	79699000	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:79699000T>C	ENST00000308293.5	+	3	1201	c.962T>C	c.(961-963)aTt>aCt	p.I321T	FAM46D_ENST00000538312.1_Missense_Mutation_p.I321T	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	321										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGAAGACAGATTCTCCACCTG	0.403																																																	0								ENSG00000174016						134.0	112.0	119.0					X																	79699000		2203	4299	6502	FAM46D	SO:0001583	missense	0			-	HGNC	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.962T>C	X.37:g.79699000T>C	ENSP00000308575:p.Ile321Thr	Somatic	0	15	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1693	p.I321T	ENST00000308293.5	37	c.962	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.459074	0.00173	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.18174	2.23;2.23	4.35	3.44	0.39384	Domain of unknown function DUF1693 (1);	0.060971	0.64402	N	0.000004	T	0.01976	0.0062	N	0.00017	-2.845	0.29192	N	0.875777	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	10	0.02654	T	1	-3.9343	10.3311	0.43823	0.0:0.8987:0.0:0.1013	.	321	Q8NEK8	FA46D_HUMAN	T	321	ENSP00000443410:I321T;ENSP00000308575:I321T	ENSP00000308575:I321T	I	+	2	0	FAM46D	79585656	1.000000	0.71417	0.795000	0.32087	0.009000	0.06853	5.333000	0.65917	0.827000	0.34685	-0.251000	0.11542	ATT	-	pfam_DUF1693		0.403	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	protein_coding	OTTHUMT00000057338.1	T	NM_152630	-		79699000	+1	no_errors	ENST00000308293	ensembl	human	known	74_37	missense	SNP	0.997	C
TP53	7157	genome.wustl.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCTGCTCACCATCGCTATC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)						ENSG00000141510						48.0	46.0	47.0					17																	7578370		2203	4300	6503	TP53	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>A	17.37:g.7578370C>T		Somatic	0	21	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e4+1	ENST00000269305.4	37	c.559+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.	-	-		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7578370	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T
CLCA2	9635	genome.wustl.edu	37	1	86913240	86913240	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:86913240C>T	ENST00000370565.4	+	11	1925	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	588					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCTCTGCAAGCCCTGAAAGTG	0.483																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0								ENSG00000137975						151.0	146.0	148.0					1																	86913240		2203	4300	6503	CLCA2	SO:0001583	missense	0			-	HGNC		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1763C>T	1.37:g.86913240C>T	ENSP00000359596:p.Ala588Val	Somatic	0	34	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.A588V	ENST00000370565.4	37	c.1763	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738206	0.30774	.	.	ENSG00000137975	ENST00000370565	T	0.30448	1.53	5.61	4.7	0.59300	Domain of unknown function DUF1973 (1);	0.201250	0.42294	D	0.000727	T	0.12732	0.0309	L	0.56396	1.775	0.31943	N	0.610716	B	0.30763	0.294	B	0.31614	0.133	T	0.09314	-1.0680	10	0.17369	T	0.5	-9.8726	7.4261	0.27100	0.0:0.7125:0.1538:0.1337	.	588	Q9UQC9	CLCA2_HUMAN	V	588	ENSP00000359596:A588V	ENSP00000359596:A588V	A	+	2	0	CLCA2	86685828	0.266000	0.24112	0.996000	0.52242	0.764000	0.43329	0.347000	0.20014	2.653000	0.90120	0.655000	0.94253	GCC	-	pfam_DUF1973,tigrfam_CaCC_prot		0.483	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	protein_coding	OTTHUMT00000028284.1	C	NM_006536	-		86913240	+1	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	SNP	0.914	T
POU5F2	134187	genome.wustl.edu	37	5	93076580	93076580	+	Silent	SNP	C	C	T	rs552948117		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:93076580C>T	ENST00000510627.4	-	1	763	c.690G>A	c.(688-690)caG>caA	p.Q230Q	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|POU5F2_ENST00000606183.1_5'UTR|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	230					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TAGGGCACCGCTGGAAGAATT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17965	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000248483						68.0	67.0	67.0					5																	93076580		1973	4178	6151	POU5F2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.690G>A	5.37:g.93076580C>T		Somatic	0	30	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q15169|Q6MZL7|Q8N748	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q230	ENST00000510627.4	37	c.690	CCDS59489.1	5																																																																																			-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.537	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	protein_coding	OTTHUMT00000369873.5	C	NM_153216	-		93076580	-1	no_errors	ENST00000510627	ensembl	human	known	74_37	silent	SNP	0.996	T
EP400	57634	genome.wustl.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102																17	Substitution - coding silent(17)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)						ENSG00000183495						28.0	31.0	30.0					12																	132547087		2199	4282	6481	EP400	SO:0001819	synonymous_variant	0			-	HGNC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A		Somatic	0	32	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2761	ENST00000333577.4	37	c.8283		12																																																																																			-	NULL		0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409	rs12366766		132547087	+1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	SNP	1.000	A
SLITRK3	22865	genome.wustl.edu	37	3	164906374	164906374	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr3:164906374delG	ENST00000475390.1	-	2	2688	c.2245delC	c.(2245-2247)caafs	p.Q749fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.Q749fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	749					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGCACATTTGGGTAACCGGG	0.592										HNSCC(40;0.11)																																							0								ENSG00000121871						76.0	75.0	75.0					3																	164906374		2203	4300	6503	SLITRK3	SO:0001589	frameshift_variant	0				HGNC	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2245delC	3.37:g.164906374delG	ENSP00000420091:p.Gln749fs	Somatic	0	31	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	Q1RMY6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q749fs	ENST00000475390.1	37	c.2245	CCDS3197.1	3																																																																																			-	NULL		0.592	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	protein_coding	OTTHUMT00000350126.1	G	NM_014926			164906374	-1	no_errors	ENST00000241274	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
ADCYAP1R1	117	genome.wustl.edu	37	7	31102898	31102898	+	Silent	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:31102898C>T	ENST00000304166.4	+	2	307	c.18C>T	c.(16-18)caC>caT	p.H6H	ADCYAP1R1_ENST00000409489.1_Silent_p.H6H|ADCYAP1R1_ENST00000409363.1_Silent_p.H6H|ADCYAP1R1_ENST00000396211.2_Silent_p.H6H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	6					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTCGTGCACGTTTCCCTGG	0.612																																					Ovarian(44;225 1186 2158 11092)												0								ENSG00000078549						156.0	106.0	122.0					7																	31102898		2203	4300	6503	ADCYAP1R1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.18C>T	7.37:g.31102898C>T		Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.43	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.H6	ENST00000304166.4	37	c.18	CCDS5433.1	7																																																																																			-	NULL		0.612	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	protein_coding	OTTHUMT00000215041.3	C	NM_001118	-		31102898	+1	no_errors	ENST00000304166	ensembl	human	known	74_37	silent	SNP	0.013	T
PTHLH	5744	genome.wustl.edu	37	12	28114898	28114898	+	Intron	DEL	T	T	-	rs377014358		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:28114898delT	ENST00000545234.1	-	5	1065				PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000538310.1_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000539239.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Frame_Shift_Del_p.K186fs			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTGTTTTCCTTTTTTTTTTT	0.333																																																	0								ENSG00000087494						16.0	16.0	16.0					12																	28114898		875	1991	2866	PTHLH	SO:0001627	intron_variant	0				HGNC		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.524+1382A>-	12.37:g.28114898delT		Somatic	0	13	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q15251|Q6FH74	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.K186fs	ENST00000545234.1	37	c.557	CCDS44853.1	12																																																																																			-	NULL		0.333	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	protein_coding	OTTHUMT00000402913.1	T	NM_198965			28114898	-1	no_errors	ENST00000354417	ensembl	human	known	74_37	frame_shift_del	DEL	0.135	-
OR4A47	403253	genome.wustl.edu	37	11	48510958	48510958	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:48510958G>T	ENST00000446524.1	+	1	690	c.614G>T	c.(613-615)tGc>tTc	p.C205F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGACTGGCTTGCACTATTGTG	0.443																																																	0								ENSG00000237388						110.0	107.0	108.0					11																	48510958		2201	4298	6499	OR4A47	SO:0001583	missense	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.614G>T	11.37:g.48510958G>T	ENSP00000412752:p.Cys205Phe	Somatic	0	18	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C205F	ENST00000446524.1	37	c.614	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	12.44	1.938139	0.34189	.	.	ENSG00000237388	ENST00000446524	T	0.27720	1.65	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.43765	0.1262	L	0.31476	0.935	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32214	-0.9915	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	205	Q6IF82	O4A47_HUMAN	F	205	ENSP00000412752:C205F	ENSP00000412752:C205F	C	+	2	0	OR4A47	48467534	0.001000	0.12720	0.022000	0.16811	0.776000	0.43924	1.045000	0.30341	2.082000	0.62665	0.205000	0.17691	TGC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	G	NM_001005512	-		48510958	+1	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	SNP	0.032	T
G6PC2	57818	genome.wustl.edu	37	2	169764394	169764394	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:169764394C>A	ENST00000375363.3	+	5	965	c.873C>A	c.(871-873)agC>agA	p.S291R	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	291					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ACACACTGAGCTTCCGGTTGC	0.493																																																	0								ENSG00000152254						128.0	123.0	125.0					2																	169764394		2203	4300	6503	G6PC2	SO:0001583	missense	0			-	HGNC	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.873C>A	2.37:g.169764394C>A	ENSP00000364512:p.Ser291Arg	Somatic	0	39	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.S291R	ENST00000375363.3	37	c.873	CCDS2230.1	2	.	.	.	.	.	.	.	.	.	.	C	10.55	1.383042	0.25031	.	.	ENSG00000152254	ENST00000375363	T	0.76709	-1.04	5.98	2.89	0.33648	.	0.269559	0.37809	N	0.001922	T	0.60405	0.2266	L	0.37750	1.13	0.80722	D	1	P	0.39216	0.664	B	0.34242	0.178	T	0.52675	-0.8544	10	0.15952	T	0.53	-6.8791	6.9045	0.24301	0.0:0.5991:0.0:0.4009	.	291	Q9NQR9	G6PC2_HUMAN	R	291	ENSP00000364512:S291R	ENSP00000364512:S291R	S	+	3	2	G6PC2	169472640	0.999000	0.42202	0.996000	0.52242	0.129000	0.20672	0.730000	0.26043	0.875000	0.35847	0.655000	0.94253	AGC	-	pirsf_Glucose-6-phosphatase		0.493	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC2	protein_coding	OTTHUMT00000255234.2	C	NM_021176	-		169764394	+1	no_errors	ENST00000375363	ensembl	human	known	74_37	missense	SNP	0.997	A
HSPA14	51182	genome.wustl.edu	37	10	14885397	14885397	+	Intron	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:14885397G>T	ENST00000378372.3	+	3	460				HSPA14_ENST00000437161.2_Missense_Mutation_p.Q83H	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CCCAGCTACAGCAGCTCCCAC	0.582																																																	0								ENSG00000187522																																			HSPA14	SO:0001627	intron_variant	0			-	HGNC	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.221+3241G>T	10.37:g.14885397G>T		Somatic	0	39	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hsp_70_fam,prints_Hsp_70_fam	p.Q83H	ENST00000378372.3	37	c.249	CCDS7103.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.06|13.06	2.124454|2.124454	0.37533|0.37533	.|.	.|.	ENSG00000187522|ENSG00000187522	ENST00000437161|ENST00000309584	T|.	0.01159|.	5.25|.	5.71|5.71	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	T|T	0.49474|0.49474	0.1559|0.1559	.|.	.|.	.|.	0.25090|0.25090	N|N	0.990866|0.990866	D|P	0.65815|0.39883	0.995|0.693	D|P	0.66497|0.48738	0.944|0.588	T|T	0.45041|0.45041	-0.9288|-0.9288	8|7	0.87932|0.66056	D|D	0|0.02	.|.	10.5351|10.5351	0.44998|0.44998	0.089:0.0:0.911:0.0|0.089:0.0:0.911:0.0	.|.	83|108	B0YIZ1|A6NJU0	.|.	H|I	83|108	ENSP00000390513:Q83H|.	ENSP00000390513:Q83H|ENSP00000309384:S108I	Q|S	+|+	3|2	2|0	HSPA14|HSPA14	14925403|14925403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.876000|2.876000	0.48498|0.48498	1.417000|1.417000	0.47077|0.47077	0.591000|0.591000	0.81541|0.81541	CAG|AGC	-	pfam_Hsp_70_fam		0.582	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	protein_coding	OTTHUMT00000046910.1	G	NM_016299	-		14885397	+1	no_errors	ENST00000437161	ensembl	human	known	74_37	missense	SNP	1.000	T
ARCN1	372	genome.wustl.edu	37	11	118454689	118454689	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:118454689A>G	ENST00000264028.4	+	4	708	c.613A>G	c.(613-615)Att>Gtt	p.I205V	ARCN1_ENST00000392859.3_Missense_Mutation_p.I117V|ARCN1_ENST00000359415.4_Missense_Mutation_p.I246V|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	205					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGACCATCATTGAAACTGA	0.468																																																	0								ENSG00000095139						96.0	90.0	92.0					11																	118454689		2200	4295	6495	ARCN1	SO:0001583	missense	0			-	HGNC	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.613A>G	11.37:g.118454689A>G	ENSP00000264028:p.Ile205Val	Somatic	0	12	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.I205V	ENST00000264028.4	37	c.613	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597785	0.28445	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.49720	0.77;0.77;0.77	5.89	5.89	0.94794	.	0.096179	0.64402	D	0.000001	T	0.29882	0.0747	N	0.11818	0.18	0.51767	D	0.999935	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.15694	-1.0428	10	0.10636	T	0.68	-6.3768	15.9724	0.80031	1.0:0.0:0.0:0.0	.	117;246;205	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	V	117;246;205	ENSP00000376599:I117V;ENSP00000352385:I246V;ENSP00000264028:I205V	ENSP00000264028:I205V	I	+	1	0	ARCN1	117959899	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.520000	0.60524	2.257000	0.74773	0.460000	0.39030	ATT	-	NULL		0.468	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	protein_coding	OTTHUMT00000389278.1	A		-		118454689	+1	no_errors	ENST00000264028	ensembl	human	known	74_37	missense	SNP	1.000	G
HPD	3242	genome.wustl.edu	37	12	122284821	122284821	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:122284821C>T	ENST00000289004.4	-	11	813	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.G221R	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	260					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CCAGCGCCCCCGTTATAGTCC	0.562																																																	0								ENSG00000158104						86.0	76.0	79.0					12																	122284821		2203	4300	6503	HPD	SO:0001583	missense	0			-	HGNC	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.778G>A	12.37:g.122284821C>T	ENSP00000289004:p.Gly260Arg	Somatic	0	20	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	32	31.91	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.G260R	ENST00000289004.4	37	c.778	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108492	0.56291	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.70045	-0.45;-0.45	5.55	5.55	0.83447	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.64630	1.985	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.76049	-0.3101	10	0.42905	T	0.14	-41.0596	19.5083	0.95130	0.0:1.0:0.0:0.0	.	260	P32754	HPPD_HUMAN	R	260;257;221	ENSP00000289004:G260R;ENSP00000441677:G221R	ENSP00000289004:G260R	G	-	1	0	HPD	120769204	1.000000	0.71417	0.923000	0.36655	0.163000	0.22366	7.466000	0.80914	2.600000	0.87896	0.655000	0.94253	GGG	-	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase		0.562	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	protein_coding	OTTHUMT00000402184.1	C	NM_002150	-		122284821	-1	no_errors	ENST00000289004	ensembl	human	known	74_37	missense	SNP	1.000	T
DCC	1630	genome.wustl.edu	37	18	50450188	50450188	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:50450188G>C	ENST00000442544.2	+	4	1425	c.809G>C	c.(808-810)aGt>aCt	p.S270T	DCC_ENST00000412726.1_Missense_Mutation_p.S118T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	270	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTCCACCAAGTTTTACCTGG	0.393																																																	0								ENSG00000187323						141.0	115.0	124.0					18																	50450188		2203	4300	6503	DCC	SO:0001583	missense	0			-	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.809G>C	18.37:g.50450188G>C	ENSP00000389140:p.Ser270Thr	Somatic	0	33	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S270T	ENST00000442544.2	37	c.809	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422310	0.25639	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.68181	-0.31;-0.31	5.74	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.42821	D	0.000650	T	0.39517	0.1081	N	0.12920	0.275	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.31668	-0.9935	10	0.02654	T	1	.	5.0138	0.14326	0.0795:0.1455:0.6249:0.1502	.	118;270	E7EQM8;P43146	.;DCC_HUMAN	T	270;203;118	ENSP00000389140:S270T;ENSP00000397322:S118T	ENSP00000304146:S203T	S	+	2	0	DCC	48704186	0.993000	0.37304	0.991000	0.47740	0.910000	0.53928	0.601000	0.24119	1.437000	0.47472	0.650000	0.86243	AGT	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.393	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	-		50450188	+1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	0.994	C
FAM35BP	414241	genome.wustl.edu	37	10	46914775	46914775	+	lincRNA	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:46914775G>A	ENST00000605984.1	-	0	185				FAM35BP_ENST00000475914.1_RNA																							GTTCTCCTTGGAGATAAACTA	0.438																																																	0								ENSG00000272430																																			RP11-38L15.8			0			-	Clone_based_vega_gene																													10.37:g.46914775G>A		Somatic	0	31	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000605984.1	37	NULL		10																																																																																			-	-		0.438	RP11-38L15.8-001	KNOWN	basic	lincRNA	ENSG00000272430	lincRNA	OTTHUMT00000471245.1	G		-		46914775	-1	no_errors	ENST00000605984	ensembl	human	known	74_37	rna	SNP	0.874	A
FAIM3	9214	genome.wustl.edu	37	1	207095211	207095211	+	5'UTR	SNP	G	G	C			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:207095211G>C	ENST00000367091.3	-	0	132				FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000420007.2_5'UTR|FAIM3_ENST00000442471.2_5'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3						cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTCCCTTCTAGAGTGCAAGGT	0.517																																																	0								ENSG00000162894						75.0	69.0	71.0					1																	207095211		2203	4300	6503	FAIM3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.-12C>G	1.37:g.207095211G>C		Somatic	0	32	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	A8K7J2|B7Z6Z0|D9MWM3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000367091.3	37	NULL	CCDS1473.1	1																																																																																			-	-		0.517	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	protein_coding	OTTHUMT00000088677.1	G	NM_005449	-		207095211	-1	no_errors	ENST00000528654	ensembl	human	known	74_37	rna	SNP	0.003	C
C1orf140	400804	genome.wustl.edu	37	1	221509382	221509382	+	lincRNA	SNP	A	A	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:221509382A>T	ENST00000439004.1	-	0	256					NR_024236.1																						TAGGGGGTGTATAAGGAGTAA	0.433																																																	0								ENSG00000234754						104.0	100.0	101.0					1																	221509382		692	1591	2283	RP11-421L10.1			0			-	Clone_based_vega_gene																													1.37:g.221509382A>T		Somatic	0	35	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000439004.1	37	NULL		1																																																																																			-	-		0.433	RP11-421L10.1-001	KNOWN	basic	lincRNA	C1orf140	lincRNA	OTTHUMT00000091116.2	A		-		221509382	-1	no_errors	ENST00000439004	ensembl	human	known	74_37	rna	SNP	0.000	T
DSCAM	1826	genome.wustl.edu	37	21	41385110	41385110	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:41385110G>T	ENST00000400454.1	-	33	6367	c.5890C>A	c.(5890-5892)Cag>Aag	p.Q1964K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1964				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCCCCGGCTGCCACGACTGT	0.652																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						25.0	28.0	27.0					21																	41385110		1935	4138	6073	DSCAM	SO:0001583	missense	0			-	HGNC	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5890C>A	21.37:g.41385110G>T	ENSP00000383303:p.Gln1964Lys	Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	O60468	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q1964K	ENST00000400454.1	37	c.5890	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	16.67	3.186549	0.57909	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.59638	0.25;0.26	5.39	5.39	0.77823	.	0.125645	0.56097	D	0.000029	T	0.52517	0.1739	L	0.44542	1.39	0.50813	D	0.999897	B	0.29037	0.231	B	0.24541	0.054	T	0.51180	-0.8738	10	0.46703	T	0.11	.	19.17	0.93574	0.0:0.0:1.0:0.0	.	1964	O60469	DSCAM_HUMAN	K	1964;1698	ENSP00000383303:Q1964K;ENSP00000385342:Q1698K	ENSP00000383303:Q1964K	Q	-	1	0	DSCAM	40306980	1.000000	0.71417	0.997000	0.53966	0.796000	0.44982	9.183000	0.94887	2.521000	0.84997	0.557000	0.71058	CAG	-	NULL		0.652	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389	-		41385110	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T
FAT1	2195	genome.wustl.edu	37	4	187628455	187628455	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:187628455G>T	ENST00000441802.2	-	2	2736	c.2527C>A	c.(2527-2529)Cag>Aag	p.Q843K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	843	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTCAACCTGGATGATTTCA	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0								ENSG00000083857						156.0	153.0	154.0					4																	187628455		1973	4129	6102	FAT1	SO:0001583	missense	0			-	HGNC	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2527C>A	4.37:g.187628455G>T	ENSP00000406229:p.Gln843Lys	Somatic	0	25	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Q843K	ENST00000441802.2	37	c.2527	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378371	0.61735	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51817	0.69	4.95	4.95	0.65309	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.37507	1.11	0.80722	D	1	P	0.38020	0.615	B	0.42386	0.386	T	0.16571	-1.0398	10	0.07813	T	0.8	.	18.3634	0.90383	0.0:0.0:1.0:0.0	.	843	Q14517	FAT1_HUMAN	K	843	ENSP00000406229:Q843K	ENSP00000260147:Q843K	Q	-	1	0	FAT1	187865449	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.657000	0.98554	2.575000	0.86900	0.491000	0.48974	CAG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245	-		187628455	-1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	SNP	1.000	T
LYN	4067	genome.wustl.edu	37	8	56922483	56922483	+	Silent	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:56922483C>T	ENST00000519728.1	+	13	1649	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	LYN_ENST00000520220.2_Silent_p.D430D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTAATGCCGACGTGATGACCG	0.498																																																	0								ENSG00000254087						60.0	58.0	59.0					8																	56922483		2203	4300	6503	LYN	SO:0001819	synonymous_variant	0			-	HGNC	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1353C>T	8.37:g.56922483C>T		Somatic	0	13	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	A0AVQ5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D451	ENST00000519728.1	37	c.1353	CCDS6162.1	8																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.498	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	protein_coding	OTTHUMT00000378155.1	C	NM_002350	-		56922483	+1	no_errors	ENST00000519728	ensembl	human	known	74_37	silent	SNP	0.042	T
GTF3C5	9328	genome.wustl.edu	37	9	135927532	135927532	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr9:135927532C>T	ENST00000372097.5	+	5	1177	c.854C>T	c.(853-855)cCc>cTc	p.P285L	GTF3C5_ENST00000372099.6_Missense_Mutation_p.P276L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P160L|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P285L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	285					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTCTTGCTTCCCTTCATAGCC	0.557																																																	0								ENSG00000148308						334.0	247.0	276.0					9																	135927532		2203	4300	6503	GTF3C5	SO:0001583	missense	0			-	HGNC	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.854C>T	9.37:g.135927532C>T	ENSP00000361169:p.Pro285Leu	Somatic	0	32	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	39	32.76	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_IIIC_su-5	p.P285L	ENST00000372097.5	37	c.854	CCDS6958.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855184|4.855184	0.91355|0.91355	.|.	.|.	ENSG00000148308|ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000439697|ENST00000434175	T;T;T|.	0.54866|.	0.55;0.55;0.55|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78168|0.78168	0.4241|0.4241	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;0.994;1.0|.	T|T	0.82257|0.82257	-0.0547|-0.0547	10|7	0.87932|0.87932	D|D	0|0	-0.8027|-0.8027	16.9734|16.9734	0.86306|0.86306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	160;285;285|.	B7Z1V3;Q9Y5Q8-3;Q9Y5Q8|.	.;.;TF3C5_HUMAN|.	L|S	285;238;276;160;135;285;160|57	ENSP00000361169:P285L;ENSP00000361171:P276L;ENSP00000361180:P285L|.	ENSP00000361161:P135L|ENSP00000387697:P57S	P|P	+|+	2|1	0|0	GTF3C5|GTF3C5	134917353|134917353	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.956000|0.956000	0.61745|0.61745	7.273000|7.273000	0.78527|0.78527	2.250000|2.250000	0.74265|0.74265	0.643000|0.643000	0.83706|0.83706	CCC|CCT	-	pfam_TF_IIIC_su-5		0.557	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	protein_coding	OTTHUMT00000054826.1	C	NM_001122823	-		135927532	+1	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	SNP	1.000	T
FHOD3	80206	genome.wustl.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																																	0								ENSG00000134775																																			FHOD3	SO:0001589	frameshift_variant	0				HGNC	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs	Somatic	0	38	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.R461fs	ENST00000359247.4	37	c.1371_1372		18																																																																																			-	NULL		0.460	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	protein_coding	OTTHUMT00000460884.1	AG	XM_371114			34261460	+1	no_errors	ENST00000257209	ensembl	human	known	74_37	frame_shift_del	DEL	0.879:1.000	-
KCNQ2	3785	genome.wustl.edu	37	20	62055553	62055553	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:62055553G>T	ENST00000359125.2	-	11	1398	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	KCNQ2_ENST00000357249.2_Missense_Mutation_p.D408E|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D398E|KCNQ2_ENST00000354587.3_Missense_Mutation_p.D398E|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D398E|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D408E|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D408E	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	408					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCGGCGGGGGGTCCTTCCTTC	0.647																																																	0								ENSG00000075043						29.0	29.0	29.0					20																	62055553		2128	4192	6320	KCNQ2	SO:0001583	missense	0			-	HGNC	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1224C>A	20.37:g.62055553G>T	ENSP00000352035:p.Asp408Glu	Somatic	0	47	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.D398E	ENST00000359125.2	37	c.1194	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.721570	0.00700	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221	D;D;D;D;D;D;D;D;D;D;D	0.99032	-5.05;-5.23;-5.26;-4.98;-5.21;-5.1;-5.09;-5.17;-4.99;-5.13;-5.35	4.5	0.331	0.15933	.	0.330064	0.27122	N	0.020834	D	0.93232	0.7844	N	0.08118	0	0.24838	N	0.992489	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	D	0.87550	0.2464	10	0.13108	T	0.6	.	4.3277	0.11048	0.1304:0.6112:0.1281:0.1302	.	408;398;408;408;408	B4DEP4;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;KCNQ2_HUMAN	E	408;408;408;398;408;408;398;398;398;398;398	ENSP00000349789:D408E;ENSP00000352035:D408E;ENSP00000359246:D408E;ENSP00000346601:D398E;ENSP00000352718:D408E;ENSP00000399612:D408E;ENSP00000353668:D398E;ENSP00000339611:D398E;ENSP00000359244:D398E;ENSP00000359242:D398E;ENSP00000359241:D398E	ENSP00000339611:D398E	D	-	3	2	KCNQ2	61525997	0.838000	0.29461	0.995000	0.50966	0.073000	0.16967	-0.134000	0.10436	0.350000	0.24002	-1.313000	0.01306	GAC	-	NULL		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	G	NM_172109	-		62055553	-1	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	SNP	0.994	T
NXF4	55999	genome.wustl.edu	37	X	101822963	101822963	+	RNA	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chrX:101822963G>A	ENST00000360035.2	+	0	2716					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						AAGCCAACTGGTAGATCCAAG	0.458																																																	0								ENSG00000196970																																			NXF4			0			-	HGNC	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101822963G>A		Somatic	0	16	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			-	-		0.458	NXF4-001	KNOWN	basic	processed_transcript	NXF4	pseudogene	OTTHUMT00000095720.1	G		-		101822963	+1	no_errors	ENST00000360035	ensembl	human	known	74_37	rna	SNP	0.000	A
OSBPL5	114879	genome.wustl.edu	37	11	3113683	3113683	+	Silent	SNP	G	G	T	rs141473758		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:3113683G>T	ENST00000263650.7	-	19	2397	c.2238C>A	c.(2236-2238)ggC>ggA	p.G746G	OSBPL5_ENST00000542243.1_Silent_p.G377G|OSBPL5_ENST00000348039.5_Silent_p.G678G|OSBPL5_ENST00000478260.1_Silent_p.G200G|OSBPL5_ENST00000389989.3_Silent_p.G678G|OSBPL5_ENST00000525498.1_Silent_p.G657G	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	746					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCCCTGGGCTGCCCAGGAAGG	0.692											OREG0020694	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000021762						20.0	18.0	19.0					11																	3113683		2189	4289	6478	OSBPL5	SO:0001819	synonymous_variant	0			-	HGNC	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2238C>A	11.37:g.3113683G>T		Somatic	0	88	0.00	608	0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	116	10.08	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G746	ENST00000263650.7	37	c.2238	CCDS31344.1	11																																																																																			-	NULL		0.692	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	protein_coding	OTTHUMT00000032332.2	G		-		3113683	-1	no_errors	ENST00000263650	ensembl	human	known	74_37	silent	SNP	1.000	T
ALK	238	genome.wustl.edu	37	2	29940519	29940519	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr2:29940519G>A	ENST00000389048.3	-	2	1618	c.712C>T	c.(712-714)Cct>Tct	p.P238S	ALK_ENST00000431873.1_Missense_Mutation_p.P238S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	238					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AAATAATCAGGAGAAGGAGAA	0.393			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0								ENSG00000171094						166.0	145.0	152.0					2																	29940519		2203	4300	6503	ALK	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	-	HGNC	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.712C>T	2.37:g.29940519G>A	ENSP00000373700:p.Pro238Ser	Somatic	0	46	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P238S	ENST00000389048.3	37	c.712	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901385	0.33535	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.79033	-1.23;2.34	4.86	3.96	0.45880	.	.	.	.	.	T	0.60521	0.2275	N	0.14661	0.345	0.30555	N	0.765079	B	0.06786	0.001	B	0.06405	0.002	T	0.53620	-0.8413	8	.	.	.	.	11.4034	0.49883	0.0901:0.0:0.9099:0.0	.	238	Q9UM73	ALK_HUMAN	S	238	ENSP00000373700:P238S;ENSP00000414027:P238S	.	P	-	1	0	ALK	29794023	0.997000	0.39634	0.931000	0.37212	0.244000	0.25665	0.885000	0.28227	2.404000	0.81709	0.655000	0.94253	CCT	-	NULL		0.393	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	G	NM_004304	-		29940519	-1	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	SNP	0.964	A
EPHB6	2051	genome.wustl.edu	37	7	142562077	142562077	+	Silent	SNP	T	T	C	rs78315767		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:142562077T>C	ENST00000392957.2	+	7	1306	c.519T>C	c.(517-519)tcT>tcC	p.S173S	EPHB6_ENST00000442129.1_Silent_p.S173S|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	173	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Poly-Ser.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.S158S(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					cctcctcctcttcttcctcTG	0.622																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000106123						82.0	100.0	94.0					7																	142562077		2201	4299	6500	EPHB6	SO:0001819	synonymous_variant	0			-	HGNC	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.519T>C	7.37:g.142562077T>C		Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S173	ENST00000392957.2	37	c.519	CCDS5873.2	7																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	protein_coding	OTTHUMT00000341329.1	T		rs78315767		142562077	+1	no_errors	ENST00000392957	ensembl	human	known	74_37	silent	SNP	0.082	C
TBC1D30	23329	genome.wustl.edu	37	12	65225912	65225912	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr12:65225912C>T	ENST00000229088.6	+	6	911	c.911C>T	c.(910-912)aCa>aTa	p.T304I	TBC1D30_ENST00000539867.1_Missense_Mutation_p.T141I|TBC1D30_ENST00000542120.1_Missense_Mutation_p.T27I			Q9Y2I9	TBC30_HUMAN	TBC1 domain family, member 30	304	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)	ciliary basal body (GO:0036064)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			NS(3)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	5						CTTCACCGCACAGGCTGTAGT	0.433																																																	0								ENSG00000111490																																			TBC1D30	SO:0001583	missense	0			-	HGNC	AB023201	CCDS53813.1	12q14.3	2013-07-10			ENSG00000111490	ENSG00000111490			29164	protein-coding gene	gene with protein product		615077				12618308, 17646400	Standard	NM_015279		Approved	KIAA0984	uc010sst.2	Q9Y2I9	OTTHUMG00000168824	ENST00000229088.6:c.911C>T	12.37:g.65225912C>T	ENSP00000229088:p.Thr304Ile	Somatic	0	29	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	B3KP01|B9A6M9|E7EMW4|F5GYJ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T304I	ENST00000229088.6	37	c.911		12	.	.	.	.	.	.	.	.	.	.	c	25.1	4.602774	0.87157	.	.	ENSG00000111490	ENST00000229088;ENST00000542120;ENST00000539867;ENST00000455166;ENST00000544457;ENST00000411580;ENST00000539120	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.93	4.93	0.64822	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67118	-0.5751	9	.	.	.	-21.0825	18.3377	0.90294	0.0:1.0:0.0:0.0	.	141;304;141	F5GYJ9;Q9Y2I9;E7EMW4	.;TBC30_HUMAN;.	I	304;27;141;141;99;99;27	ENSP00000229088:T304I;ENSP00000440640:T27I;ENSP00000440207:T141I;ENSP00000442442:T27I	.	T	+	2	0	TBC1D30	63512179	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.047000	0.76599	2.553000	0.86117	0.563000	0.77884	ACA	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.433	TBC1D30-201	KNOWN	basic	protein_coding	TBC1D30	protein_coding		C	XM_037557	-		65225912	+1	no_errors	ENST00000229088	ensembl	human	known	74_37	missense	SNP	1.000	T
DRG1	4733	genome.wustl.edu	37	22	31799118	31799118	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr22:31799118G>T	ENST00000331457.4	+	3	431	c.270G>T	c.(268-270)gaG>gaT	p.E90D	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	90	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TATATTCTGAGGTGGCAGCCT	0.488																																																	0								ENSG00000185721						138.0	121.0	127.0					22																	31799118		2203	4300	6503	DRG1	SO:0001583	missense	0			-	HGNC	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.270G>T	22.37:g.31799118G>T	ENSP00000329715:p.Glu90Asp	Somatic	0	39	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.E90D	ENST00000331457.4	37	c.270	CCDS13897.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024850	0.75390	.	.	ENSG00000185721	ENST00000331457	T	0.18338	2.22	5.06	1.86	0.25419	Small GTP-binding protein domain (1);GTP1/OBG (1);GTP-binding domain, HSR1-related (1);	0.046284	0.85682	D	0.000000	T	0.31167	0.0788	M	0.87547	2.89	0.80722	D	1	P	0.46395	0.877	P	0.51550	0.673	T	0.07083	-1.0791	10	0.72032	D	0.01	-17.1292	5.5395	0.17030	0.4813:0.0:0.5187:0.0	.	90	Q9Y295	DRG1_HUMAN	D	90	ENSP00000329715:E90D	ENSP00000329715:E90D	E	+	3	2	DRG1	30129118	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.879000	0.39618	0.775000	0.33450	0.655000	0.94253	GAG	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom		0.488	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	protein_coding	OTTHUMT00000075680.5	G	NM_004147	-		31799118	+1	no_errors	ENST00000331457	ensembl	human	known	74_37	missense	SNP	1.000	T
ARHGEF28	64283	genome.wustl.edu	37	5	73160684	73160684	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr5:73160684C>A	ENST00000426542.2	+	16	2110	c.2090C>A	c.(2089-2091)cCt>cAt	p.P697H	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P697H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.P697H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P384H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P697H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P697H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P697H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	697					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GATGCTGCGCCTGCATGCACC	0.348																																																	0								ENSG00000214944						103.0	103.0	103.0					5																	73160684		1923	4139	6062	ARHGEF28	SO:0001583	missense	0			-	HGNC		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2090C>A	5.37:g.73160684C>A	ENSP00000412175:p.Pro697His	Somatic	0	37	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P697H	ENST00000426542.2	37	c.2090	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271960	0.59649	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.92	4.14	0.48551	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	.	.	.	.	D	0.96420	0.8832	M	0.85373	2.75	0.19300	N	0.999974	D;D;D;P	0.67145	0.996;0.994;0.993;0.952	P;D;P;P	0.65233	0.9;0.933;0.897;0.834	D	0.90784	0.4681	9	0.87932	D	0	.	12.808	0.57624	0.0:0.8663:0.0:0.1337	.	384;697;697;697	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	H	697;697;697;697;697;697;384	ENSP00000296794:P697H;ENSP00000441913:P697H;ENSP00000441436:P697H;ENSP00000287898:P697H;ENSP00000411459:P697H;ENSP00000412175:P697H;ENSP00000296799:P384H	ENSP00000287898:P697H	P	+	2	0	RP11-428C6.1	73196440	0.305000	0.24481	0.008000	0.14137	0.004000	0.04260	3.213000	0.51153	1.521000	0.48983	0.655000	0.94253	CCT	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.348	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	C		-		73160684	+1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	SNP	0.400	A
MESP1	55897	genome.wustl.edu	37	15	90294296	90294297	+	In_Frame_Ins	INS	-	-	CGGGGCTCGGCA	rs3841586|rs71934166		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr15:90294296_90294297insCGGGGCTCGGCA	ENST00000300057.4	-	1	244_245	c.166_167insTGCCGAGCCCCG	c.(166-168)gcg>gTGCCGAGCCCCGcg	p.55_56insVPSP	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	55					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GCCTGGCCGCGCGGGGCTCGCC	0.782																																																	0								ENSG00000166823			385,1077		135,115,481						-3.7	0.0		dbSNP_130	2	677,3275		154,369,1453	no	coding	MESP1	NM_018670.3		289,484,1934	A1A1,A1R,RR		17.1306,26.3338,19.6158				1062,4352				MESP1	SO:0001652	inframe_insertion	0				HGNC		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"""Basic helix-loop-helix proteins"""	29658	protein-coding gene	gene with protein product		608689	"""mesoderm posterior 1 homolog (mouse)"""			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.166_167insTGCCGAGCCCCG	15.37:g.90294296_90294297insCGGGGCTCGGCA	ENSP00000300057:p.Pro55_Ala56insValProSerPro	Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q9NSF1|Q9NSF2	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.56in_frame_insVPSP	ENST00000300057.4	37	c.167_166	CCDS10355.1	15																																																																																			-	NULL		0.782	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESP1	protein_coding	OTTHUMT00000313421.1	-	NM_018670			90294297	-1	no_errors	ENST00000300057	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	CGGGGCTCGGCA
SEMA3A	10371	genome.wustl.edu	37	7	83739786	83739786	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr7:83739786C>T	ENST00000265362.4	-	4	767	c.453G>A	c.(451-453)gaG>gaA	p.E151E	SEMA3A_ENST00000436949.1_Splice_Site_p.E151E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	151	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCAGCGTTACCTCAGGATGAT	0.373																																																	0								ENSG00000075213						87.0	84.0	85.0					7																	83739786		2203	4300	6503	SEMA3A	SO:0001630	splice_region_variant	0			-	HGNC	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.453+1G>A	7.37:g.83739786C>T		Somatic	0	15	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.E151	ENST00000265362.4	37	c.453	CCDS5599.1	7																																																																																			-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.373	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	C	NM_006080	-	Silent	83739786	-1	no_errors	ENST00000265362	ensembl	human	known	74_37	silent	SNP	1.000	T
ST14	6768	genome.wustl.edu	37	11	130060353	130060353	+	Silent	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:130060353C>T	ENST00000278742.5	+	7	1057	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	213					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCGCAGACAGCTGCAGCTTTG	0.697																																																	0								ENSG00000149418						29.0	35.0	33.0					11																	130060353		2189	4277	6466	ST14	SO:0001819	synonymous_variant	0			-	HGNC	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.639C>T	11.37:g.130060353C>T		Somatic	0	69	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	95	15.93	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.S213	ENST00000278742.5	37	c.639	CCDS8487.1	11																																																																																			-	pirsf_Peptidase_S1A_matripase,superfamily_CUB_dom		0.697	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	protein_coding	OTTHUMT00000386119.1	C		-		130060353	+1	no_errors	ENST00000278742	ensembl	human	known	74_37	silent	SNP	1.000	T
AFAP1	60312	genome.wustl.edu	37	4	7780398	7780398	+	Intron	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:7780398G>A	ENST00000360265.4	-	12	1880				AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000420658.1_Intron|AFAP1_ENST00000513842.1_Intron|AFAP1_ENST00000358461.2_Intron|AFAP1_ENST00000382543.3_Intron			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTGACCCCAAGCTGGCACTCA	0.567																																																	0								ENSG00000272620																																			AFAP1-AS1	SO:0001627	intron_variant	0			-	HGNC	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1645+90C>T	4.37:g.7780398G>A		Somatic	0	18	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000360265.4	37	NULL	CCDS3397.1	4																																																																																			-	-		0.567	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1-AS1	protein_coding	OTTHUMT00000246842.2	G	NM_021638	-		7780398	+1	no_errors	ENST00000608442	ensembl	human	known	74_37	rna	SNP	0.000	A
UROS	7390	genome.wustl.edu	37	10	127495982	127495982	+	Splice_Site	SNP	T	T	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:127495982T>A	ENST00000368797.4	-	6	618	c.394A>T	c.(394-396)Agg>Tgg	p.R132W	UROS_ENST00000368778.3_Splice_Site_p.S132C|UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368774.1_Missense_Mutation_p.S132C|UROS_ENST00000368786.1_Splice_Site_p.R132W	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	132					cellular response to amine stimulus (GO:0071418)|cellular response to arsenic-containing substance (GO:0071243)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to antibiotic (GO:0046677)|small molecule metabolic process (GO:0044281)|uroporphyrinogen III biosynthetic process (GO:0006780)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|uroporphyrinogen-III synthase activity (GO:0004852)			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TTCTACTTACTGGAACAAATA	0.368																																																	0								ENSG00000188690						141.0	131.0	134.0					10																	127495982		2202	4300	6502	UROS	SO:0001630	splice_region_variant	0			-	HGNC	J03824	CCDS7648.1	10q25.2-q26.3	2008-07-31	2008-07-31		ENSG00000188690	ENSG00000188690	4.2.1.75		12592	protein-coding gene	gene with protein product	"""congenital erythropoietic porphyria"""	606938				2037278	Standard	NM_000375		Approved		uc001lix.4	P10746	OTTHUMG00000019236	ENST00000368797.4:c.394+1A>T	10.37:g.127495982T>A		Somatic	0	43	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	B2RC13|D3DRF7|Q9H2T1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth	p.R132W	ENST00000368797.4	37	c.394	CCDS7648.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.26|15.26	2.782173|2.782173	0.49891|0.49891	.|.	.|.	ENSG00000188690|ENSG00000188690	ENST00000368797;ENST00000368786;ENST00000420761|ENST00000368778;ENST00000368774	D;D;D|D;D	0.92752|0.93426	-3.1;-3.1;-3.1|-3.22;-3.04	4.56|4.56	-1.33|-1.33	0.09172|0.09172	Tetrapyrrole biosynthesis, uroporphyrinogen III synthase (2);|.	0.259165|.	0.42420|.	D|.	0.000704|.	D|D	0.93324|0.93324	0.7872|0.7872	M|M	0.63428|0.63428	1.95|1.95	0.21604|0.21604	N|N	0.999628|0.999628	D|.	0.61080|.	0.989|.	P|.	0.55545|.	0.778|.	D|D	0.87679|0.87679	0.2546|0.2546	10|7	0.49607|0.59425	T|D	0.09|0.04	-8.2786|-8.2786	13.417|13.417	0.60974|0.60974	0.0:0.0:0.7162:0.2838|0.0:0.0:0.7162:0.2838	.|.	132|.	P10746|.	HEM4_HUMAN|.	W|C	132;132;104|132	ENSP00000357787:R132W;ENSP00000357775:R132W;ENSP00000414833:R104W|ENSP00000357767:S132C;ENSP00000357763:S132C	ENSP00000357775:R132W|ENSP00000357763:S132C	R|S	-|-	1|1	2|0	UROS|UROS	127485972|127485972	0.986000|0.986000	0.35501|0.35501	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	-0.045000|-0.045000	0.12003|0.12003	-0.062000|-0.062000	0.13088|0.13088	0.533000|0.533000	0.62120|0.62120	AGG|AGT	-	pfam_4pyrrol_synth_uPrphyn_synth,superfamily_4pyrrol_synth_uPrphyn_synth		0.368	UROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROS	protein_coding	OTTHUMT00000050929.1	T	NM_000375	-	Missense_Mutation	127495982	-1	no_errors	ENST00000368786	ensembl	human	known	74_37	missense	SNP	0.997	A
NBPF6	653149	genome.wustl.edu	37	1	108918849	108918849	+	Intron	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:108918849G>A	ENST00000444143.2	+	1	183				NBPF5P_ENST00000357046.4_RNA|NBPF6_ENST00000294652.8_Intron			Q5VWK0	NBPF6_HUMAN	neuroblastoma breakpoint family, member 6							cytoplasm (GO:0005737)				endometrium(2)	2						GCAGTTCCGAGACCTCAAAGA	0.478																																																	0								ENSG00000243967																																			NBPF5P	SO:0001627	intron_variant	0			-	HGNC		CCDS44184.1	1p13.3	2013-01-17				ENSG00000186086		"""neuroblastoma breakpoint family"""	31988	protein-coding gene	gene with protein product		613996				16079250	Standard	NM_001143987		Approved		uc009wep.3	Q5VWK0	OTTHUMG00000039830	ENST00000444143.2:c.-36+246G>A	1.37:g.108918849G>A		Somatic	0	59	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	71	17.44	A4QN25	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000444143.2	37	NULL	CCDS44184.1	1																																																																																			-	-		0.478	NBPF6-203	KNOWN	basic|CCDS	protein_coding	NBPF5P	protein_coding	OTTHUMT00000276886.3	G	XM_926213	-		108918849	+1	no_errors	ENST00000357046	ensembl	human	known	74_37	rna	SNP	0.027	A
HSPB2	3316	genome.wustl.edu	37	11	111784579	111784579	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:111784579A>T	ENST00000304298.3	+	2	1097	c.509A>T	c.(508-510)gAt>gTt	p.D170V	CRYAB_ENST00000531198.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.D170V|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000533475.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000533971.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	170					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCGCCTCCTGATCCAGAGGAA	0.567																																																	0								ENSG00000170276						34.0	34.0	34.0					11																	111784579		2201	4297	6498	HSPB2	SO:0001583	missense	0			-	Uniprot_gn	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.509A>T	11.37:g.111784579A>T	ENSP00000302476:p.Asp170Val	Somatic	0	30	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q6I9U7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.D170V	ENST00000304298.3	37	c.509	CCDS8352.1	11	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992357	0.35131	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.90676	-2.71;-2.71	5.37	5.37	0.77165	.	0.147852	0.44688	D	0.000421	D	0.89076	0.6612	N	0.14661	0.345	0.54753	D	0.999987	D	0.64830	0.994	D	0.65684	0.937	D	0.87548	0.2463	10	0.27785	T	0.31	-27.381	12.056	0.53536	1.0:0.0:0.0:0.0	.	170	Q16082	HSPB2_HUMAN	V	170	ENSP00000302476:D170V;ENSP00000445585:D170V	ENSP00000302476:D170V	D	+	2	0	HSPB2	111289789	0.978000	0.34361	0.999000	0.59377	0.992000	0.81027	2.545000	0.45769	2.169000	0.68431	0.528000	0.53228	GAT	-	NULL		0.567	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB2	protein_coding	OTTHUMT00000391669.1	A		-		111784579	+1	no_errors	ENST00000304298	ensembl	human	known	74_37	missense	SNP	1.000	T
DMRT1	1761	genome.wustl.edu	37	9	968119	968119	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr9:968119G>A	ENST00000382276.3	+	5	1251	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	DMRT1_ENST00000569227.1_Missense_Mutation_p.V210I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	368					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGTCACTCCCGTCATCGAGGA	0.522																																																	0								ENSG00000137090						50.0	41.0	44.0					9																	968119		2203	4300	6503	DMRT1	SO:0001583	missense	0			-	HGNC	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1102G>A	9.37:g.968119G>A	ENSP00000371711:p.Val368Ile	Somatic	0	31	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.V368I	ENST00000382276.3	37	c.1102	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	G	1.253	-0.618139	0.03663	.	.	ENSG00000137090	ENST00000382276	T	0.17370	2.28	5.68	4.79	0.61399	.	0.336050	0.31461	N	0.007615	T	0.09774	0.0240	N	0.26042	0.785	0.09310	N	1	B	0.31351	0.32	B	0.18561	0.022	T	0.26224	-1.0109	10	0.02654	T	1	.	14.7032	0.69168	0.0695:0.0:0.9305:0.0	.	368	Q9Y5R6	DMRT1_HUMAN	I	368	ENSP00000371711:V368I	ENSP00000371711:V368I	V	+	1	0	DMRT1	958119	0.964000	0.33143	0.287000	0.24848	0.968000	0.65278	2.922000	0.48860	1.415000	0.47037	0.655000	0.94253	GTC	-	NULL		0.522	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	protein_coding	OTTHUMT00000051489.2	G	NM_021951	-		968119	+1	no_errors	ENST00000382276	ensembl	human	known	74_37	missense	SNP	0.048	A
RBFOX1	54715	genome.wustl.edu	37	16	7760642	7760642	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr16:7760642G>T	ENST00000550418.1	+	16	2077	c.1089G>T	c.(1087-1089)ttG>ttT	p.L363F	RBFOX1_ENST00000553186.1_Missense_Mutation_p.L336F|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L368F|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L363F|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L384F|RBFOX1_ENST00000547372.1_3'UTR	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	363					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTGCACCTTTGACTGATGCCA	0.408																																					Ovarian(157;934 2567 15163 39509)												0								ENSG00000078328						227.0	200.0	209.0					16																	7760642		2197	4300	6497	RBFOX1	SO:0001583	missense	0			-	HGNC	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1089G>T	16.37:g.7760642G>T	ENSP00000450031:p.Leu363Phe	Somatic	0	45	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	56	16.42	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.L384F	ENST00000550418.1	37	c.1152	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801196	0.31869	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547338;ENST00000311745;ENST00000352951;ENST00000340209	T;T;T;T;T	0.34472	1.36;1.65;1.36;1.73;1.36	5.95	5.95	0.96441	.	0.155125	0.44688	D	0.000434	T	0.22551	0.0544	N	0.14661	0.345	0.52501	D	0.999955	B;B;P;P	0.41265	0.003;0.008;0.662;0.744	B;B;B;B	0.39258	0.007;0.007;0.295;0.212	T	0.05289	-1.0894	10	0.10111	T	0.7	-6.9584	15.8271	0.78718	0.0:0.1351:0.8649:0.0	.	357;384;336;363	F8WAC5;Q9NWB1-2;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	F	363;336;363;384;357;368	ENSP00000450031:L363F;ENSP00000447753:L336F;ENSP00000447717:L363F;ENSP00000309117:L384F;ENSP00000344196:L368F	ENSP00000309117:L384F	L	+	3	2	RBFOX1	7700643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.540000	0.73861	2.831000	0.97527	0.609000	0.83330	TTG	-	pirsf_RNA-bd_Fox-1		0.408	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	protein_coding	OTTHUMT00000409492.2	G	NM_145891	-		7760642	+1	no_errors	ENST00000311745	ensembl	human	known	74_37	missense	SNP	1.000	T
SHROOM3	57619	genome.wustl.edu	37	4	77414532	77414532	+	Intron	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:77414532G>A	ENST00000296043.6	+	1	1121				AC112249.1_ENST00000408191.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3						actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			atttagctgggagtcctgtat	0.338																																																	0								ENSG00000221118																																			AC112249.1	SO:0001627	intron_variant	0			-	Clone_based_ensembl_gene	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.168+57159G>A	4.37:g.77414532G>A		Somatic	0	34	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	38	25.49	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000296043.6	37	NULL	CCDS3579.2	4																																																																																			-	-		0.338	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221118	protein_coding	OTTHUMT00000252408.2	G	NM_020859	-		77414532	-1	no_errors	ENST00000408191	ensembl	human	novel	74_37	rna	SNP	0.005	A
IFT52	51098	genome.wustl.edu	37	20	42271199	42271199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr20:42271199C>T	ENST00000373030.3	+	13	1331	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	IFT52_ENST00000373039.4_Nonsense_Mutation_p.Q401*|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	401					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAAGGACCAACAGGATGCCAA	0.448																																																	0								ENSG00000101052						160.0	140.0	147.0					20																	42271199		2203	4300	6503	IFT52	SO:0001587	stop_gained	0			-	HGNC	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1201C>T	20.37:g.42271199C>T	ENSP00000362121:p.Gln401*	Somatic	0	35	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	24	31.43	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transp_unknown	p.Q401*	ENST00000373030.3	37	c.1201	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.231442	0.98150	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	5.36	5.36	0.76844	.	0.240402	0.41294	D	0.000912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-15.837	18.2537	0.90012	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000362121:Q401X	Q	+	1	0	IFT52	41704613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.397000	0.44477	2.682000	0.91365	0.650000	0.86243	CAG	-	NULL		0.448	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	protein_coding	OTTHUMT00000079317.1	C	NM_016004	-		42271199	+1	no_errors	ENST00000373030	ensembl	human	known	74_37	nonsense	SNP	1.000	T
CTBP1	1487	genome.wustl.edu	37	4	1209972	1209972	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:1209972G>A	ENST00000290921.6	-	5	750	c.569C>T	c.(568-570)gCg>gTg	p.A190V	CTBP1_ENST00000382952.3_Missense_Mutation_p.A179V	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	190					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCCGCAGCGCCACTGCCTG	0.682																																																	0								ENSG00000159692						38.0	36.0	36.0					4																	1209972		2203	4297	6500	CTBP1	SO:0001583	missense	0			-	HGNC	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.569C>T	4.37:g.1209972G>A	ENSP00000290921:p.Ala190Val	Somatic	0	26	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.A190V	ENST00000290921.6	37	c.569	CCDS3348.1	4	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503833	0.64410	.	.	ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180	D;D;D	0.84223	-1.82;-1.82;-1.82	4.62	3.77	0.43336	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.053822	0.64402	N	0.000001	D	0.87273	0.6136	M	0.64676	1.99	0.80722	D	1	D;D	0.71674	0.994;0.998	P;P	0.54460	0.654;0.753	D	0.85754	0.1345	10	0.38643	T	0.18	-24.5907	12.6245	0.56622	0.0812:0.0:0.9188:0.0	.	190;179	Q13363;Q7Z2Q5	CTBP1_HUMAN;.	V	179;190;184	ENSP00000372411:A179V;ENSP00000290921:A190V;ENSP00000424684:A184V	ENSP00000290921:A190V	A	-	2	0	CTBP1	1199972	1.000000	0.71417	0.849000	0.33467	0.032000	0.12392	9.010000	0.93611	0.933000	0.37291	0.561000	0.74099	GCG	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd		0.682	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	protein_coding	OTTHUMT00000202938.1	G	NM_001328	-		1209972	-1	no_errors	ENST00000290921	ensembl	human	known	74_37	missense	SNP	0.999	A
DSPP	1834	genome.wustl.edu	37	4	88537344	88537344	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr4:88537344G>A	ENST00000282478.7	+	4	3563	c.3530G>A	c.(3529-3531)aGc>aAc	p.S1177N	DSPP_ENST00000399271.1_Missense_Mutation_p.S1177N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1177	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agcagtgacagcagcaatagc	0.562																																																	0								ENSG00000152591						52.0	72.0	65.0					4																	88537344		1633	2898	4531	DSPP	SO:0001583	missense	0			-	HGNC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3530G>A	4.37:g.88537344G>A	ENSP00000282478:p.Ser1177Asn	Somatic	0	45	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	A8MUI0|O95815	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S1177N	ENST00000282478.7	37	c.3530	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	g	0.255	-1.003573	0.02128	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	2.34	1.48	0.22813	.	0.953605	0.08550	U	0.929197	T	0.78515	0.4295	L	0.38175	1.15	0.09310	N	1	B	0.23540	0.087	B	0.28784	0.094	T	0.61068	-0.7137	10	0.11794	T	0.64	-5.9401	5.0651	0.14578	0.1784:0.0:0.8216:0.0	.	1177	Q9NZW4	DSPP_HUMAN	N	1177	ENSP00000382213:S1177N;ENSP00000282478:S1177N	ENSP00000282478:S1177N	S	+	2	0	DSPP	88756368	0.915000	0.31059	0.016000	0.15963	0.027000	0.11550	2.050000	0.41297	0.556000	0.29098	0.298000	0.19748	AGC	-	NULL		0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	protein_coding	OTTHUMT00000363616.3	G	NM_014208	-		88537344	+1	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	SNP	0.201	A
ATG2B	55102	genome.wustl.edu	37	14	96792222	96792222	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr14:96792222T>G	ENST00000359933.4	-	15	3094	c.2201A>C	c.(2200-2202)cAt>cCt	p.H734P	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	734					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCAGGACTATGTGAATCATC	0.353																																																	0								ENSG00000066739						88.0	79.0	82.0					14																	96792222		1929	4129	6058	ATG2B	SO:0001583	missense	0			-	HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2201A>C	14.37:g.96792222T>G	ENSP00000353010:p.His734Pro	Somatic	0	23	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Autophagy-rel_C	p.H734P	ENST00000359933.4	37	c.2201	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495097	0.26774	.	.	ENSG00000066739	ENST00000359933	T	0.09350	2.99	5.6	5.6	0.85130	.	0.000000	0.38326	U	0.001723	T	0.07773	0.0195	L	0.27053	0.805	0.44447	D	0.99737	P	0.34909	0.475	B	0.34722	0.188	T	0.38757	-0.9646	10	0.27082	T	0.32	.	8.266	0.31815	0.0:0.1478:0.0:0.8522	.	734	Q96BY7	ATG2B_HUMAN	P	734	ENSP00000353010:H734P	ENSP00000353010:H734P	H	-	2	0	ATG2B	95861975	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	2.687000	0.46976	2.143000	0.66587	0.460000	0.39030	CAT	-	NULL		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	T	NM_018036	-		96792222	-1	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	SNP	1.000	G
GRM5	2915	genome.wustl.edu	37	11	88583213	88583213	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:88583213C>G	ENST00000305447.4	-	2	921	c.772G>C	c.(772-774)Gat>Cat	p.D258H	GRM5_ENST00000305432.5_Missense_Mutation_p.D258H|GRM5_ENST00000393297.1_Missense_Mutation_p.D258H|GRM5_ENST00000418177.2_Missense_Mutation_p.D258H|GRM5_ENST00000455756.2_Missense_Mutation_p.D258H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	258					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D258N(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGCAGCTTATCAAAGCTCTGC	0.522																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000168959						35.0	36.0	35.0					11																	88583213		2201	4296	6497	GRM5	SO:0001583	missense	0			-	HGNC	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.772G>C	11.37:g.88583213C>G	ENSP00000306138:p.Asp258His	Somatic	0	35	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	47	22.95	Q6J164	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.D258H	ENST00000305447.4	37	c.772	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499973	0.85176	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91358	0.7274	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	D	0.91072	0.4893	9	.	.	.	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	258;258	P41594-2;P41594	.;GRM5_HUMAN	H	258	ENSP00000402912:D258H;ENSP00000405690:D258H;ENSP00000305905:D258H;ENSP00000306138:D258H;ENSP00000376975:D258H	.	D	-	1	0	GRM5	88222861	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.145000	0.77365	2.528000	0.85240	0.563000	0.77884	GAT	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	protein_coding	OTTHUMT00000259226.1	C	NM_000842	-		88583213	-1	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	SNP	1.000	G
NEFM	4741	genome.wustl.edu	37	8	24774766	24774766	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr8:24774766G>T	ENST00000221166.5	+	3	2180	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N	NEFM_ENST00000433454.2_Missense_Mutation_p.K90N|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.K466N|NEFM_ENST00000437366.2_Missense_Mutation_p.K466N			P07197	NFM_HUMAN	neurofilament, medium polypeptide	466	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGATGAGAAGTCAGAAATGG	0.468																																																	0								ENSG00000104722						71.0	71.0	71.0					8																	24774766		2203	4300	6503	NEFM	SO:0001583	missense	0			-	HGNC	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1398G>T	8.37:g.24774766G>T	ENSP00000221166:p.Lys466Asn	Somatic	0	26	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.K466N	ENST00000221166.5	37	c.1398	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722252	0.30503	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94862	-1.81;-1.81;-1.8;-3.54	4.63	1.52	0.23074	.	0.000000	0.47093	D	0.000241	D	0.96034	0.8708	M	0.83953	2.67	0.43317	D	0.995334	D;D	0.69078	0.991;0.997	P;P	0.60789	0.831;0.879	D	0.94489	0.7700	10	0.87932	D	0	.	9.2321	0.37444	0.2888:0.0:0.7112:0.0	.	466;466	E7EMV2;P07197	.;NFM_HUMAN	N	466;466;466;90	ENSP00000221166:K466N;ENSP00000427872:K466N;ENSP00000410137:K466N;ENSP00000412295:K90N	ENSP00000221166:K466N	K	+	3	2	NEFM	24830671	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	1.697000	0.37784	0.044000	0.15775	-0.363000	0.07495	AAG	-	NULL		0.468	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	G	NM_005382	-		24774766	+1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	SNP	1.000	T
TPRXL	348825	genome.wustl.edu	37	3	14105886	14105897	+	In_Frame_Del	DEL	CAGCAGCAGCCC	CAGCAGCAGCCC	-	rs111691316		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	CAGCAGCAGCCC	CAGCAGCAGCCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr3:14105886_14105897delCAGCAGCAGCCC	ENST00000424053.1	+	3	757_768	c.210_221delCAGCAGCAGCCC	c.(208-222)agcagcagcagcccc>agc	p.SSSP71del	TPRXL_ENST00000532753.1_Intron|TPRXL_ENST00000326972.8_In_Frame_Del_p.SSSP71del|TPRXL_ENST00000429201.1_In_Frame_Del_p.SSSP71del			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gcagccccagcagcagcagccccagcagcagc	0.67																																																	0								ENSG00000180438																																			TPRXL	SO:0001651	inframe_deletion	0				HGNC	AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.210_221delCAGCAGCAGCCC	3.37:g.14105886_14105897delCAGCAGCAGCCC	ENSP00000400448:p.Ser71_Pro74del	Somatic	NA	NA	NA		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8NAM5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.PSSS74in_frame_del	ENST00000424053.1	37	c.210_221		3																																																																																			-	NULL		0.670	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	protein_coding	OTTHUMT00000340436.1	CAGCAGCAGCCC	NR_002223			14105897	+1	no_errors	ENST00000326972	ensembl	human	known	74_37	in_frame_del	DEL	0.880:0.801:0.741:0.671:0.265:0.182:0.069:0.024:0.005:0.003:0.001:0.000	-
CFAP58	159686	genome.wustl.edu	37	10	106209901	106209901	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr10:106209901A>G	ENST00000369704.3	+	17	2583	c.2449A>G	c.(2449-2451)Aat>Gat	p.N817D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		817						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACTTACCAATGAGCTCCA	0.328																																																	0								ENSG00000120051						78.0	82.0	80.0					10																	106209901		2203	4300	6503	CCDC147	SO:0001583	missense	0			-	HGNC																												ENST00000369704.3:c.2449A>G	10.37:g.106209901A>G	ENSP00000358718:p.Asn817Asp	Somatic	0	19	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	D3DRA6|Q8NA27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Homeodomain-like	p.N817D	ENST00000369704.3	37	c.2449	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661055	0.29515	.	.	ENSG00000120051	ENST00000369704	T	0.47177	0.85	5.76	5.76	0.90799	.	0.258042	0.44483	D	0.000442	T	0.38957	0.1060	L	0.41356	1.27	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25152	-1.0140	10	0.11182	T	0.66	-12.3532	16.0745	0.80960	1.0:0.0:0.0:0.0	.	817	Q5T655	CC147_HUMAN	D	817	ENSP00000358718:N817D	ENSP00000358718:N817D	N	+	1	0	CCDC147	106199891	0.997000	0.39634	0.931000	0.37212	0.605000	0.37080	3.521000	0.53472	2.201000	0.70794	0.528000	0.53228	AAT	-	NULL		0.328	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	protein_coding	OTTHUMT00000050216.1	A		-		106209901	+1	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	SNP	1.000	G
TRIM46	80128	genome.wustl.edu	37	1	155159745	155159745	+	IGR	SNP	G	G	A	rs572153326		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr1:155159745G>A	ENST00000334634.4	+	0	3061				RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.R2C|MUC1_ENST00000368393.3_Missense_Mutation_p.A194V|MUC1_ENST00000368395.1_Missense_Mutation_p.R437C|MUC1_ENST00000368398.3_Missense_Mutation_p.R192C|MUC1_ENST00000368389.2_Missense_Mutation_p.R130C|MUC1_ENST00000343256.5_Missense_Mutation_p.R165C|MUC1_ENST00000368392.3_Missense_Mutation_p.R226C|MUC1_ENST00000337604.5_Missense_Mutation_p.R235C|MUC1_ENST00000457295.2_Missense_Mutation_p.R226C|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000338684.5_Missense_Mutation_p.R186C|MUC1_ENST00000438413.1_Missense_Mutation_p.R191C|MUC1_ENST00000368390.3_Missense_Mutation_p.R217C|MUC1_ENST00000368396.4_Missense_Mutation_p.R121C|MUC1_ENST00000342482.4_Missense_Mutation_p.R128C	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCACATAGCGCCCATGGGTG	0.597																																																	0								ENSG00000185499						96.0	97.0	97.0					1																	155159745		2203	4300	6503	MUC1	SO:0001628	intergenic_variant	0			-	HGNC		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155159745G>A		Somatic	0	26	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R437C	ENST00000334634.4	37	c.1309	CCDS1097.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.884434|4.884434	0.91814|0.91814	.|.	.|.	ENSG00000185499|ENSG00000185499	ENST00000368393|ENST00000368395;ENST00000338684;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000425082;ENST00000368389;ENST00000368396;ENST00000343256;ENST00000342482;ENST00000368398;ENST00000368390;ENST00000337604	T|T;T;T;T;T;T;T;T;T;T;T;T	0.57107|0.31510	0.42|1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.000000	.|0.38897	.|N	.|0.001531	T|T	0.44932|0.44932	0.1317|0.1317	M|M	0.79475|0.79475	2.455|2.455	0.25155|0.25155	N|N	0.990392|0.990392	D;D;D;D;D;D|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.64830|0.89917	0.978;0.994;0.989;0.978;0.994;0.994|1.0;1.0;1.0;0.997;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.998;1.0;1.0;0.997	B;P;P;B;P;P|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.53649|0.91635	0.389;0.731;0.543;0.389;0.731;0.731|0.997;0.999;0.996;0.962;0.969;0.988;0.999;0.997;0.988;0.997;0.969;0.996;0.996;0.996;0.996;0.886;0.999;0.981;0.983;0.996;0.996;0.999;0.996;0.994;0.969;0.983;0.997;0.996;0.969;0.972;0.886;0.978;0.969;0.991;0.983;0.988;0.995;0.962	T|T	0.32745|0.32745	-0.9895|-0.9895	9|10	0.87932|0.87932	D|D	0|0	-24.8661|-24.8661	12.7814|12.7814	0.57479|0.57479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176;124;215;194;115;154|174;1226;226;232;1214;235;1205;175;191;244;186;121;523;523;437;244;201;139;217;203;200;107;205;179;151;192;165;121;112;235;226;128;119;130;192;191;177;217	B6ECB2;Q7Z539;A5YRU7;A6ZID9;A5YRV4;Q7Z538|B6ECB3;P15941-2;Q7Z547;A6ZID5;P15941-3;P15941-8;P15941-4;A6ZIE3;Q7Z546;B6ECA3;A5YRV1;A6ZIE5;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID7;A6ZIE6;P15941-7;A6ZID6;A5YRV0;A6ZIF0;A5YRU8;A5YRV2;A6ZIE4;P15941-6;P15941-10;Q7Z550;Q7Z551;B1AVR0;Q0VAP5;Q7Z548;Q7Z549;B1AVQ8;A6ZIE0;B1AVQ7;A6ZIE2;Q0VAP6	.;.;.;.;.;.|.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V|C	194|437;186;226;191;226;523;130;121;165;128;192;217;235	ENSP00000357378:A194V|ENSP00000357380:R437C;ENSP00000343482:R186C;ENSP00000357377:R226C;ENSP00000389098:R191C;ENSP00000388172:R226C;ENSP00000357374:R130C;ENSP00000357381:R121C;ENSP00000339690:R165C;ENSP00000342814:R128C;ENSP00000357383:R192C;ENSP00000357375:R217C;ENSP00000338983:R235C	ENSP00000357378:A194V|ENSP00000338983:R235C	A|R	-|-	2|1	0|0	MUC1|MUC1	153426369|153426369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	3.750000|3.750000	0.55157|0.55157	2.372000|2.372000	0.80975|0.80975	0.557000|0.557000	0.71058|0.71058	GCG|CGC	-	NULL		0.597	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC1	protein_coding	OTTHUMT00000086728.1	G	NM_025058	-		155159745	-1	no_errors	ENST00000368395	ensembl	human	known	74_37	missense	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92532352	92532352	+	Missense_Mutation	SNP	G	G	A	rs199620788		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr11:92532352G>A	ENST00000298047.6	+	9	6190	c.6173G>A	c.(6172-6174)cGt>cAt	p.R2058H	FAT3_ENST00000409404.2_Missense_Mutation_p.R2058H|FAT3_ENST00000525166.1_Missense_Mutation_p.R1908H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2058	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGCCAGCCGTGAGCTGGAC	0.483										TCGA Ovarian(4;0.039)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19857	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000165323	G	HIS/ARG	1,3943		0,1,1971	62.0	66.0	65.0		6173	5.0	1.0	11		65	1,8339		0,1,4169	yes	missense	FAT3	NM_001008781.2	29	0,2,6140	AA,AG,GG		0.012,0.0254,0.0163	probably-damaging	2058/4558	92532352	2,12282	1972	4170	6142	FAT3	SO:0001583	missense	0			-	HGNC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6173G>A	11.37:g.92532352G>A	ENSP00000298047:p.Arg2058His	Somatic	0	18	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	B5MDB0|Q96AU6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2058H	ENST00000298047.6	37	c.6173		11	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648873	0.67358	2.54E-4	1.2E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51325	0.71;0.71;0.71	5.9	4.97	0.65823	.	.	.	.	.	T	0.66327	0.2778	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.70256	-0.4922	9	0.72032	D	0.01	.	16.3101	0.82865	0.0:0.0:0.8667:0.1333	.	2058	Q8TDW7-3	.	H	2058;2058;1908	ENSP00000298047:R2058H;ENSP00000387040:R2058H;ENSP00000432586:R1908H	ENSP00000298047:R2058H	R	+	2	0	FAT3	92172000	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.673000	0.68109	1.459000	0.47892	0.655000	0.94253	CGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		G	NM_001008781	rs199620788		92532352	+1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	SNP	1.000	A
UNC13D	201294	genome.wustl.edu	37	17	73836886	73836886	+	Silent	SNP	G	G	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr17:73836886G>T	ENST00000207549.4	-	8	1019	c.640C>A	c.(640-642)Cga>Aga	p.R214R	UNC13D_ENST00000412096.2_Silent_p.R214R|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	214	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTTCTGTCGGACAGACTCC	0.602									Familial Hemophagocytic Lymphohistiocytosis																																								0			GRCh37	CM042797	UNC13D	M		ENSG00000092929						137.0	131.0	133.0					17																	73836886		2203	4300	6503	UNC13D	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.640C>A	17.37:g.73836886G>T		Somatic	0	36	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	B4DWG9|Q9H7K5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R214	ENST00000207549.4	37	c.640	CCDS11730.1	17																																																																																			-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.602	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	G	XM_113950	-		73836886	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	silent	SNP	0.962	T
PRIM2	5558	genome.wustl.edu	37	6	57512788	57512789	+	3'UTR	INS	-	-	TA	rs376103961|rs386701662|rs79832250		TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr6:57512788_57512789insTA	ENST00000389488.2	+	0	1703_1704				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		tgcactctgttgtgtaattgtg	0.436																																																	0								ENSG00000146143																																			PRIM2	SO:0001624	3_prime_UTR_variant	0				HGNC		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1701->TA	6.37:g.57512788_57512789insTA		Somatic	0	8	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			-	-		0.436	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	protein_coding	OTTHUMT00000043468.3	-	NM_000947			57512789	+1	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	INS	0.034:0.053	TA
DSCR3	10311	genome.wustl.edu	37	21	38593692	38593692	+	IGR	SNP	C	C	T			TCGA-DX-A8BH-01A-11D-A37C-09	TCGA-DX-A8BH-11A-43D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b69b501-ef3d-49ee-9400-663d8455fa69	e6a33554-d90c-4e0e-96a1-c77f4d944119	g.chr21:38593692C>T	ENST00000309117.6	-	0	3256				DSCR3_ENST00000399000.3_5'Flank|AP001432.14_ENST00000440629.1_lincRNA|DSCR9_ENST00000454482.2_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						TGGGAAAATGCGGCCCTGTTC	0.632																																																	0								ENSG00000230366						62.0	63.0	62.0					21																	38593692		2203	4300	6503	DSCR9	SO:0001628	intergenic_variant	0			-	HGNC	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593692C>T		Somatic	0	42	0.00		0.6817646573966117	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000309117.6	37	NULL	CCDS33553.1	21																																																																																			-	-		0.632	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR9	protein_coding	OTTHUMT00000194807.1	C		-		38593692	+1	no_errors	ENST00000454482	ensembl	human	known	74_37	rna	SNP	0.000	T
