#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
CCDC185	164127	genome.wustl.edu	37	1	223567541	223567541	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr1:223567541G>A	ENST00000366875.3	+	1	827	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		242										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCACACCCAGGTCCTGAAGAG	0.622																																						dbGAP											0													41.0	42.0	42.0					1																	223567541		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000366875.3:c.724G>A	1.37:g.223567541G>A	ENSP00000355840:p.Val242Ile		Q8N746|Q8NA93	Missense_Mutation	SNP	NULL	p.V242I	ENST00000366875.3	37	c.724	CCDS1537.1	1	.	.	.	.	.	.	.	.	.	.	G	4.804	0.149550	0.09185	.	.	ENSG00000178395	ENST00000366875	T	0.17528	2.27	3.97	-7.95	0.01148	.	.	.	.	.	T	0.05823	0.0152	N	0.05510	-0.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39820	-0.9595	9	0.13108	T	0.6	.	7.2715	0.26260	0.2021:0.2802:0.5177:0.0	.	242	Q8N715	CA065_HUMAN	I	242	ENSP00000355840:V242I	ENSP00000355840:V242I	V	+	1	0	C1orf65	221634164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.728000	0.04925	-2.099000	0.00849	-0.781000	0.03364	GTC	C1orf65	-	NULL	ENSG00000178395		0.622	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	10	0.00	0	G			223567541	223567541	+1	no_errors	ENST00000366875	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.000	A
CCDC50	152137	genome.wustl.edu	37	3	191047486	191047486	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr3:191047486A>T	ENST00000392455.3	+	1	621	c.23A>T	c.(22-24)cAg>cTg	p.Q8L	UTS2B_ENST00000340524.5_Intron|CCDC50_ENST00000392456.3_Missense_Mutation_p.Q8L|UTS2B_ENST00000490825.1_5'Flank	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	8						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCATCGACCAGTCCAAGCTG	0.701																																						dbGAP											0													26.0	28.0	27.0					3																	191047486		2201	4297	6498	-	-	-	SO:0001583	missense	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.23A>T	3.37:g.191047486A>T	ENSP00000376249:p.Gln8Leu		Q86VH7	Missense_Mutation	SNP	NULL	p.Q8L	ENST00000392455.3	37	c.23	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134942	0.56828	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.50548	0.74;0.74	4.24	4.24	0.50183	.	0.247248	0.41712	D	0.000832	T	0.35278	0.0926	L	0.34521	1.04	0.45183	D	0.998194	B;P	0.42248	0.178;0.774	B;B	0.38683	0.032;0.279	T	0.27938	-1.0059	10	0.59425	D	0.04	.	9.9031	0.41359	1.0:0.0:0.0:0.0	.	8;8	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	L	8	ENSP00000376249:Q8L;ENSP00000376250:Q8L	ENSP00000376249:Q8L	Q	+	2	0	CCDC50	192530180	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	3.652000	0.54439	1.887000	0.54652	0.460000	0.39030	CAG	CCDC50	-	NULL	ENSG00000152492		0.701	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	16	0.00	0	A	NM_174908		191047486	191047486	+1	no_errors	ENST00000392456	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	T
CCPG1	9236	genome.wustl.edu	37	15	55677882	55677882	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr15:55677882T>A	ENST00000310958.6	-	3	389	c.91A>T	c.(91-93)Acc>Tcc	p.T31S	CCPG1_ENST00000569205.1_Missense_Mutation_p.T31S|CCPG1_ENST00000442196.3_Missense_Mutation_p.T31S|CCPG1_ENST00000425574.3_Missense_Mutation_p.T31S|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	31	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCAGTGGGGGTCACAGAATTC	0.418																																						dbGAP											0													46.0	47.0	47.0					15																	55677882		1832	4084	5916	-	-	-	SO:0001583	missense	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.91A>T	15.37:g.55677882T>A	ENSP00000311656:p.Thr31Ser		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.T31S	ENST00000310958.6	37	c.91	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	T	7.363	0.625176	0.14257	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.15952	3.8;3.8;2.38	5.15	2.77	0.32553	.	0.871500	0.10112	N	0.714615	T	0.11495	0.0280	L	0.36672	1.1	0.22571	N	0.998975	B;B;B	0.23058	0.007;0.079;0.021	B;B;B	0.20767	0.018;0.031;0.018	T	0.42649	-0.9439	10	0.12766	T	0.61	.	4.6112	0.12404	0.1682:0.0924:0.0:0.7394	.	31;31;31	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	S	31	ENSP00000311656:T31S;ENSP00000403400:T31S;ENSP00000415128:T31S	ENSP00000311656:T31S	T	-	1	0	DYX1C1	53465174	0.000000	0.05858	0.542000	0.28115	0.102000	0.19082	0.143000	0.16115	0.344000	0.23847	0.524000	0.50904	ACC	CCPG1	-	NULL	ENSG00000260916		0.418	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	51	0.00	0	T	NM_004748		55677882	55677882	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.756	A
CTNNAL1	8727	genome.wustl.edu	37	9	111734985	111734985	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr9:111734985T>A	ENST00000325551.4	-	9	1403	c.1317A>T	c.(1315-1317)aaA>aaT	p.K439N	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.K439N	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	439					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTTCAGAGAGTTTACAGGCAT	0.343																																						dbGAP											0													118.0	120.0	120.0					9																	111734985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1317A>T	9.37:g.111734985T>A	ENSP00000320434:p.Lys439Asn		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.K439N	ENST00000325551.4	37	c.1317	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109563	0.77096	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.34072	1.38;1.38	6.17	3.32	0.38043	.	0.179812	0.64402	D	0.000015	T	0.47248	0.1435	M	0.64997	1.995	0.80722	D	1	D;D;D	0.64830	0.994;0.983;0.994	D;P;D	0.63793	0.918;0.908;0.918	T	0.38112	-0.9676	10	0.23891	T	0.37	-25.0113	6.989	0.24745	0.0:0.3164:0.0:0.6836	.	439;439;439	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	N	439	ENSP00000363723:K439N;ENSP00000320434:K439N	ENSP00000320434:K439N	K	-	3	2	CTNNAL1	110774806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.070000	0.30653	1.019000	0.39547	0.533000	0.62120	AAA	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000119326		0.343	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	79	0.00	0	T	NM_003798		111734985	111734985	-1	no_errors	ENST00000325551	ensembl	human	known	69_37n	missense	64	30.43	28	SNP	1.000	A
DMP1	1758	genome.wustl.edu	37	4	88584083	88584083	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr4:88584083G>A	ENST00000339673.6	+	6	1252	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E369K|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	385					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGACTCCAGCGAGGAGGACAG	0.532																																						dbGAP											0													158.0	162.0	161.0					4																	88584083		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1153G>A	4.37:g.88584083G>A	ENSP00000340935:p.Glu385Lys		A1L4L3|O43265	Missense_Mutation	SNP	pfam_DMP1	p.E385K	ENST00000339673.6	37	c.1153	CCDS3623.1	4	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798187	0.50208	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.57595	0.39;0.39	5.17	2.22	0.28083	.	0.557288	0.16763	N	0.200536	T	0.64821	0.2633	M	0.75447	2.3	0.29892	N	0.825147	D;D	0.63046	0.99;0.992	P;P	0.55345	0.665;0.774	T	0.65685	-0.6108	10	0.49607	T	0.09	-8.0121	14.0525	0.64747	0.0:0.437:0.5629:0.0	.	369;385	Q13316-2;Q13316	.;DMP1_HUMAN	K	385;369	ENSP00000340935:E385K;ENSP00000282479:E369K	ENSP00000282479:E369K	E	+	1	0	DMP1	88803107	0.753000	0.28349	0.240000	0.24138	0.196000	0.23810	1.458000	0.35223	0.527000	0.28560	0.655000	0.94253	GAG	DMP1	-	pfam_DMP1	ENSG00000152592		0.532	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMP1	HGNC	protein_coding	OTTHUMT00000253047.1	53	0.00	0	G			88584083	88584083	+1	no_errors	ENST00000339673	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	0.529	A
DNAH9	1770	genome.wustl.edu	37	17	11603195	11603195	+	Missense_Mutation	SNP	G	G	A	rs140721719		TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr17:11603195G>A	ENST00000262442.4	+	23	5088	c.5020G>A	c.(5020-5022)Ggg>Agg	p.G1674R	DNAH9_ENST00000454412.2_Missense_Mutation_p.G1674R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1674	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G1674W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGACTGCAGCGGGCAGGTAAC	0.502																																						dbGAP											1	Substitution - Missense(1)	skin(1)											109.0	90.0	97.0					17																	11603195		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5020G>A	17.37:g.11603195G>A	ENSP00000262442:p.Gly1674Arg		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G1674R	ENST00000262442.4	37	c.5020	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706797	0.89018	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.62788	-0.0;-0.0	5.45	5.45	0.79879	Dynein heavy chain, domain-2 (1);	0.137610	0.48767	D	0.000175	D	0.89188	0.6644	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93846	0.7141	10	0.87932	D	0	.	19.2964	0.94124	0.0:0.0:1.0:0.0	.	1674	Q9NYC9	DYH9_HUMAN	R	1674;1674;256	ENSP00000262442:G1674R;ENSP00000414874:G1674R	ENSP00000262442:G1674R	G	+	1	0	DNAH9	11543920	1.000000	0.71417	0.999000	0.59377	0.681000	0.39784	9.359000	0.97115	2.580000	0.87095	0.655000	0.94253	GGG	DNAH9	-	pfam_Dynein_heavy_dom-2	ENSG00000007174		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	40	0.00	0	G	NM_001372		11603195	11603195	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	1.000	A
HSPA5	3309	genome.wustl.edu	37	9	128001333	128001333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr9:128001333delC	ENST00000324460.6	-	5	1086	c.883delG	c.(883-885)gccfs	p.A295fs	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	295					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GCCCGTTTGGCCTTTTCTACC	0.458										Prostate(1;0.17)																												dbGAP											0													75.0	75.0	75.0					9																	128001333		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.883delG	9.37:g.128001333delC	ENSP00000324173:p.Ala295fs		B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Frame_Shift_Del	DEL	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A295fs	ENST00000324460.6	37	c.883	CCDS6863.1	9																																																																																			HSPA5	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000044574		0.458	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA5	HGNC	protein_coding	OTTHUMT00000054062.1	62	0.00	0	C			128001333	128001333	-1	no_errors	ENST00000324460	ensembl	human	known	69_37n	frame_shift_del	50	22.39	15	DEL	1.000	-
LCA5	167691	genome.wustl.edu	37	6	80222980	80222980	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr6:80222980C>A	ENST00000392959.1	-	4	1280	c.669G>T	c.(667-669)aaG>aaT	p.K223N	LCA5_ENST00000467898.3_Missense_Mutation_p.K223N|LCA5_ENST00000369846.4_Missense_Mutation_p.K223N	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	223					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.K223N(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AAACTAGTTTCTTTGCCAAAT	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											144.0	139.0	140.0					6																	80222980		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.669G>T	6.37:g.80222980C>A	ENSP00000376686:p.Lys223Asn		E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.K223N	ENST00000392959.1	37	c.669	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822341	0.71028	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.77620	-1.11;-1.11	6.07	6.07	0.98685	.	0.131898	0.51477	D	0.000088	D	0.82751	0.5105	M	0.63843	1.955	0.43330	D	0.995368	D;D	0.76494	0.963;0.999	P;D	0.71656	0.798;0.974	D	0.84027	0.0357	10	0.72032	D	0.01	-19.572	12.8913	0.58073	0.0:0.9266:0.0:0.0734	.	223;223	B4DRL2;Q86VQ0	.;LCA5_HUMAN	N	223	ENSP00000358861:K223N;ENSP00000376686:K223N	ENSP00000358861:K223N	K	-	3	2	LCA5	80279699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.558000	0.45879	2.885000	0.99019	0.655000	0.94253	AAG	LCA5	-	NULL	ENSG00000135338		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	100	0.00	0	C	NM_181714		80222980	80222980	-1	no_errors	ENST00000369846	ensembl	human	known	69_37n	missense	73	30.48	32	SNP	1.000	A
MAMDC4	158056	genome.wustl.edu	37	9	139753216	139753216	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr9:139753216G>A	ENST00000317446.2	+	23	2917	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q	MAMDC4_ENST00000445819.1_Missense_Mutation_p.R1035Q|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		cccgggggccgggccgccTGG	0.672																																						dbGAP											0													14.0	17.0	16.0					9																	139753216		2182	4294	6476	-	-	-	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2867G>A	9.37:g.139753216G>A	ENSP00000319388:p.Arg956Gln			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom	p.R1035Q	ENST00000317446.2	37	c.3104	CCDS7010.1	9	.	.	.	.	.	.	.	.	.	.	.	12.04	1.819692	0.32145	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.01838	4.61;4.61	5.05	-0.515	0.11954	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.733946	0.11506	N	0.557189	T	0.01124	0.0037	N	0.11789	0.175	0.09310	N	0.999998	P;B	0.43431	0.807;0.28	B;B	0.36289	0.221;0.052	T	0.46735	-0.9170	10	0.10111	T	0.7	-27.3915	6.554	0.22450	0.4107:0.124:0.4653:0.0	.	1035;956	Q6UXC1;Q6UXC1-2	AEGP_HUMAN;.	Q	956;1035	ENSP00000319388:R956Q;ENSP00000411339:R1035Q	ENSP00000319388:R956Q	R	+	2	0	MAMDC4	138873037	0.001000	0.12720	0.948000	0.38648	0.478000	0.33099	-0.268000	0.08607	-0.115000	0.11915	-0.367000	0.07326	CGG	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3	28	0.00	0	G	NM_206920		139753216	139753216	+1	no_errors	ENST00000445819	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.149	A
MUM1	84939	genome.wustl.edu	37	19	1362249	1362249	+	Splice_Site	SNP	A	A	G			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr19:1362249A>G	ENST00000415183.3	+	5	1141	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MUM1_ENST00000344663.3_Splice_Site_p.E372G|MUM1_ENST00000311401.5_Splice_Site_p.E303G|MUM1_ENST00000591806.1_Splice_Site_p.E372G			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	371					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		TTATTGGCAGAGTGCCAGTCT	0.443																																						dbGAP											0													76.0	63.0	67.0					19																	1362249		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1115-1A>G	19.37:g.1362249A>G			A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.E372G	ENST00000415183.3	37	c.1115		19	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656951	0.29425	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.27890	1.67;1.66;1.64	4.37	-0.589	0.11683	.	1.415770	0.04374	N	0.359640	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.18777	-1.0326	9	.	.	.	.	4.3203	0.11013	0.3399:0.4042:0.2559:0.0	.	372;372;303;371	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	G	372;303;372	ENSP00000345789:E372G;ENSP00000309135:E303G;ENSP00000394925:E372G	.	E	+	2	0	MUM1	1313249	0.012000	0.17670	0.115000	0.21578	0.013000	0.08279	-0.177000	0.09796	-0.202000	0.10268	0.459000	0.35465	GAG	MUM1	-	NULL	ENSG00000160953		0.443	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	39	0.00	0	A	NM_032853	Missense_Mutation	1362249	1362249	+1	no_errors	ENST00000344663	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.039	G
MYO16	23026	genome.wustl.edu	37	13	109704802	109704802	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr13:109704802G>T	ENST00000357550.2	+	24	3002	c.2961G>T	c.(2959-2961)aaG>aaT	p.K987N	MYO16_ENST00000457511.2_Missense_Mutation_p.K499N|MYO16_ENST00000356711.2_Missense_Mutation_p.K987N	NM_001198950.1	NP_001185879.1			myosin XVI									p.K987N(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGAAAACAAGAATTATCTAG	0.308																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											75.0	74.0	74.0					13																	109704802		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2961G>T	13.37:g.109704802G>T	ENSP00000350160:p.Lys987Asn			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K987N	ENST00000357550.2	37	c.2961	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846438	0.71603	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.87809	-2.3;-2.3;-2.3	5.66	4.8	0.61643	Myosin head, motor domain (2);	0.412552	0.17657	U	0.166471	D	0.87018	0.6073	M	0.62723	1.935	0.45648	D	0.998573	P;B;P	0.40970	0.726;0.328;0.734	P;B;P	0.46049	0.474;0.284;0.502	D	0.85031	0.0917	9	.	.	.	.	10.4446	0.44486	0.1495:0.0:0.8505:0.0	.	499;987;987	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	N	987;987;775;499	ENSP00000349145:K987N;ENSP00000350160:K987N;ENSP00000401633:K499N	.	K	+	3	2	MYO16	108502803	1.000000	0.71417	0.828000	0.32881	0.990000	0.78478	4.205000	0.58466	2.669000	0.90835	0.591000	0.81541	AAG	MYO16	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000041515		0.308	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	62	0.00	0	G	NM_015011		109704802	109704802	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	0.997	T
NDUFB9	4715	genome.wustl.edu	37	8	125555378	125555378	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr8:125555378A>G	ENST00000276689.3	+	2	236	c.152A>G	c.(151-153)cAt>cGt	p.H51R	NDUFB9_ENST00000517367.1_Missense_Mutation_p.H40R|NDUFB9_ENST00000518008.1_Missense_Mutation_p.H51R|NDUFB9_ENST00000522532.1_Missense_Mutation_p.H51R	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	51					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGAAGAACATAAGAATGAA	0.443																																						dbGAP											0													95.0	90.0	92.0					8																	125555378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.152A>G	8.37:g.125555378A>G	ENSP00000276689:p.His51Arg		B2R8M6|Q9UQE8	Missense_Mutation	SNP	pfam_Complex1_LYR	p.H51R	ENST00000276689.3	37	c.152	CCDS6352.1	8	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546257	0.65198	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;T;T;T	0.71341	-0.43;-0.43;-0.43;-0.56	5.46	5.46	0.80206	.	0.099263	0.64402	D	0.000002	T	0.78616	0.4311	L	0.58810	1.83	0.51482	D	0.999926	P;B	0.48640	0.913;0.031	P;B	0.55871	0.786;0.055	T	0.80284	-0.1447	10	0.59425	D	0.04	-23.3659	15.5444	0.76086	1.0:0.0:0.0:0.0	.	51;51	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	R	51;51;51;40	ENSP00000276689:H51R;ENSP00000428282:H51R;ENSP00000431115:H51R;ENSP00000430322:H40R	ENSP00000276689:H51R	H	+	2	0	NDUFB9	125624559	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.057000	0.76669	2.070000	0.61991	0.533000	0.62120	CAT	NDUFB9	-	pfam_Complex1_LYR	ENSG00000147684		0.443	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB9	HGNC	protein_coding	OTTHUMT00000381606.1	57	0.00	0	A	NM_005005		125555378	125555378	+1	no_errors	ENST00000276689	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	1.000	G
OR5V1	81696	genome.wustl.edu	37	6	29323445	29323445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr6:29323445G>T	ENST00000377154.1	-	4	827	c.528C>A	c.(526-528)taC>taA	p.Y176*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.Y176*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y176*(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACAGAAGAAGTAATTAATCT	0.473																																					Ovarian(32;43 883 21137 32120 42650)	dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											89.0	84.0	86.0					6																	29323445		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.528C>A	6.37:g.29323445G>T	ENSP00000366359:p.Tyr176*		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y176*	ENST00000377154.1	37	c.528	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490668	0.84962	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	.	.	.	4.43	-2.07	0.07276	.	0.000000	0.30219	N	0.010125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-28.8293	7.7885	0.29106	0.3956:0.1308:0.4736:0.0	.	.	.	.	X	176	.	ENSP00000366356:Y176X	Y	-	3	2	OR5V1	29431424	0.000000	0.05858	0.931000	0.37212	0.922000	0.55478	-1.697000	0.01910	-0.205000	0.10219	-0.484000	0.04775	TAC	OR5V1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000243729		0.473	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	HGNC	protein_coding	OTTHUMT00000076398.3	23	0.00	0	G			29323445	29323445	-1	no_errors	ENST00000377151	ensembl	human	known	69_37n	nonsense	24	27.27	9	SNP	0.559	T
PCDHGA5	56110	genome.wustl.edu	37	5	140744030	140744030	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr5:140744030G>A	ENST00000518069.1	+	1	133	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTCCTTCGTCGGCAACAT	0.637																																						dbGAP											0													36.0	46.0	42.0					5																	140744030		2198	4299	6497	-	-	-	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.133G>A	5.37:g.140744030G>A	ENSP00000429834:p.Val45Ile		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V45I	ENST00000518069.1	37	c.133	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	19.95	3.921018	0.73213	.	.	ENSG00000253485	ENST00000518069	T	0.49139	0.79	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.73233	0.3561	M	0.85197	2.74	0.31313	N	0.686959	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.74708	-0.3574	9	0.44086	T	0.13	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	45;45	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	45	ENSP00000429834:V45I	ENSP00000429834:V45I	V	+	1	0	PCDHGA5	140724214	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.766000	0.62279	2.694000	0.91930	0.558000	0.71614	GTC	PCDHGA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000253485		0.637	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	40	0.00	0	G	NM_018918		140744030	140744030	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	1.000	A
PLXNB3	5365	genome.wustl.edu	37	X	153043072	153043072	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chrX:153043072C>A	ENST00000361971.5	+	31	5304	c.5190C>A	c.(5188-5190)gaC>gaA	p.D1730E	PLXNB3_ENST00000485980.1_3'UTR|PLXNB3_ENST00000538966.1_Missense_Mutation_p.D1753E|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D1383E|SRPK3_ENST00000489426.1_5'UTR	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1730					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGTTTGACCTTCTGGATG	0.607																																						dbGAP											0													209.0	159.0	176.0					X																	153043072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5190C>A	X.37:g.153043072C>A	ENSP00000355378:p.Asp1730Glu		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D1753E	ENST00000361971.5	37	c.5259	CCDS14729.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.743930|2.743930	0.49151|0.49151	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000448847	T;T;T|.	0.26067|.	1.76;1.76;1.76|.	4.7|4.7	2.86|2.86	0.33363|0.33363	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76492|0.76492	0.3995|0.3995	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;1.0|.	T|T	0.77446|0.77446	-0.2585|-0.2585	10|5	0.62326|.	D|.	0.03|.	.|.	8.4502|8.4502	0.32866|0.32866	0.0:0.7205:0.0:0.2795|0.0:0.7205:0.0:0.2795	.|.	1383;1753;1730|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	E|N	1753;1730;1383|34	ENSP00000442736:D1753E;ENSP00000355378:D1730E;ENSP00000445569:D1383E|.	ENSP00000355378:D1730E|.	D|T	+|+	3|2	2|0	PLXNB3|PLXNB3	152696266|152696266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.059000|0.059000	0.15707|0.15707	1.837000|1.837000	0.39201|0.39201	0.869000|0.869000	0.35703|0.35703	0.529000|0.529000	0.55759|0.55759	GAC|ACC	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000198753		0.607	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	64	0.00	0	C			153043072	153043072	+1	no_errors	ENST00000538966	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	A
SLC2A12	154091	genome.wustl.edu	37	6	134323224	134323225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr6:134323224_134323225insA	ENST00000275230.5	-	4	1765_1766	c.1610_1611insT	c.(1609-1611)atgfs	p.M537fs		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	537					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATGCTAGACTCATGATTGTATA	0.351																																					Melanoma(122;1663 1672 14489 35294 41228)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1611dupT	6.37:g.134323225_134323225dupA	ENSP00000275230:p.Met537fs		B3KV17|Q7Z6U3|Q96MR8	Frame_Shift_Ins	INS	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.M537fs	ENST00000275230.5	37	c.1611_1610	CCDS5169.1	6																																																																																			SLC2A12	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146411		0.351	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	80	0.00	0	-			134323224	134323225	-1	no_errors	ENST00000275230	ensembl	human	known	69_37n	frame_shift_ins	51	32.89	25	INS	1.000:1.000	A
SLIT2	9353	genome.wustl.edu	37	4	20541090	20541090	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr4:20541090G>T	ENST00000504154.1	+	19	2111	c.1859G>T	c.(1858-1860)tGt>tTt	p.C620F	SLIT2_ENST00000273739.5_Missense_Mutation_p.C624F|SLIT2_ENST00000503837.1_Missense_Mutation_p.C616F|SLIT2_ENST00000503823.1_Missense_Mutation_p.C612F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	620					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGAATAACCTGTGTGGGGAAT	0.408																																						dbGAP											0													176.0	167.0	170.0					4																	20541090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1859G>T	4.37:g.20541090G>T	ENSP00000422591:p.Cys620Phe		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C620F	ENST00000504154.1	37	c.1859	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927390	0.92389	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	N	0.13299	0.325	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68765	0.955;0.96	T	0.65413	-0.6174	10	0.87932	D	0	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	612;620	O94813-3;O94813	.;SLIT2_HUMAN	F	612;620;624;616;616	ENSP00000427548:C612F;ENSP00000422591:C620F;ENSP00000273739:C624F;ENSP00000422261:C616F	ENSP00000273739:C624F	C	+	2	0	SLIT2	20150188	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.855000	0.99526	2.780000	0.95670	0.655000	0.94253	TGT	SLIT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000145147		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	148	0.00	0	G			20541090	20541090	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	80	26.61	29	SNP	1.000	T
UBE2D3	7323	genome.wustl.edu	37	4	103730974	103730974	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr4:103730974A>C	ENST00000453744.2	-	3	576	c.63T>G	c.(61-63)tgT>tgG	p.C21W	UBE2D3_ENST00000350435.7_Missense_Mutation_p.C15W|UBE2D3_ENST00000394803.5_Missense_Mutation_p.C21W|UBE2D3_ENST00000357194.6_Missense_Mutation_p.C23W|UBE2D3_ENST00000321805.7_Missense_Mutation_p.C21W|UBE2D3_ENST00000394804.2_Missense_Mutation_p.C21W|UBE2D3_ENST00000504211.1_5'UTR|UBE2D3_ENST00000349311.8_Missense_Mutation_p.C21W|UBE2D3_ENST00000394801.4_Missense_Mutation_p.C21W|UBE2D3_ENST00000507845.1_5'UTR|UBE2D3_ENST00000343106.5_Missense_Mutation_p.C21W|UBE2D3_ENST00000338145.3_Missense_Mutation_p.C21W|UBE2D3_ENST00000502404.1_5'UTR|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000505207.1_5'UTR	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	21					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GACCTGCAGAACATTGTGCTG	0.373																																						dbGAP											0													113.0	115.0	115.0					4																	103730974		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.63T>G	4.37:g.103730974A>C	ENSP00000396901:p.Cys21Trp		A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.C23W	ENST00000453744.2	37	c.69	CCDS3660.1	4	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797605	0.70567	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000357194;ENST00000508238;ENST00000502690;ENST00000508249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.58	3.19	0.36642	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.087650	0.85682	D	0.000000	T	0.76779	0.4035	M	0.88570	2.965	0.80722	D	1	P;P;D	0.89917	0.903;0.928;1.0	P;P;D	0.85130	0.714;0.745;0.997	T	0.77324	-0.2630	10	0.87932	D	0	.	9.5121	0.39082	0.8586:0.0:0.1414:0.0	.	23;21;21	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	W	21;21;21;21;21;21;15;21;21;23;21;21;21	ENSP00000396901:C21W;ENSP00000378280:C21W;ENSP00000378282:C21W;ENSP00000378283:C21W;ENSP00000345285:C21W;ENSP00000318494:C21W;ENSP00000337262:C15W;ENSP00000337208:C21W;ENSP00000344069:C21W;ENSP00000349722:C23W;ENSP00000423487:C21W;ENSP00000425762:C21W;ENSP00000421310:C21W	ENSP00000318494:C21W	C	-	3	2	UBE2D3	103950085	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.077000	0.64419	0.428000	0.26173	0.529000	0.55759	TGT	UBE2D3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000109332		0.373	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000253791.2	75	0.00	0	A	NM_181893		103730974	103730974	-1	no_errors	ENST00000357194	ensembl	human	known	69_37n	missense	51	37.04	30	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	970297	970297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E9-A24A-01A-11D-A167-09	TCGA-E9-A24A-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d11d3770-a4f4-4d15-94f4-149cca27d391	0702eb13-b159-471d-b602-092f1f173a80	g.chr12:970297delA	ENST00000315939.6	+	7	2382	c.1739delA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Del_p.E173fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000537687.1_Frame_Shift_Del_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAGGAGCAAGAAAAAAAAAAG	0.468																																					Colon(19;451 567 6672 12618 28860)	dbGAP											1	Unknown(1)	skin(1)											98.0	96.0	97.0					12																	970297		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1739delA	12.37:g.970297delA	ENSP00000313059:p.Glu580fs		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K583fs	ENST00000315939.6	37	c.1739	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	33	0.00	0	A	NM_018979		970297	970297	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	frame_shift_del	22	15.38	4	DEL	1.000	-
