#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
ANK2	287	genome.wustl.edu	37	4	114153390	114153390	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr4:114153390G>C	ENST00000357077.4	+	5	511	c.458G>C	c.(457-459)gGa>gCa	p.G153A	ANK2_ENST00000506722.1_Missense_Mutation_p.G132A|ANK2_ENST00000394537.3_Missense_Mutation_p.G153A|ANK2_ENST00000264366.6_Missense_Mutation_p.G153A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	153					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGGAAAATGGAGCTAATCAG	0.378																																						dbGAP											0													129.0	121.0	123.0					4																	114153390		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.458G>C	4.37:g.114153390G>C	ENSP00000349588:p.Gly153Ala		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G153A	ENST00000357077.4	37	c.458	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139605	0.77775	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000343056;ENST00000515034	T;D;T;T;T;T;T;T;T	0.81739	0.57;-1.53;-0.13;-0.13;-0.13;-1.09;-1.09;-1.09;0.64	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.000000	0.43416	D	0.000572	D	0.91693	0.7374	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.964;1.0;0.982;1.0	D;P;D;D;D	0.87578	0.998;0.792;0.996;0.91;0.998	D	0.92802	0.6257	10	0.87932	D	0	.	19.4355	0.94792	0.0:0.0:1.0:0.0	.	153;153;153;132;132	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	A	132;132;132;168;153;153;153;168;132;18	ENSP00000423799:G132A;ENSP00000421011:G132A;ENSP00000421067:G132A;ENSP00000424722:G168A;ENSP00000378044:G153A;ENSP00000349588:G153A;ENSP00000264366:G153A;ENSP00000422900:G168A;ENSP00000421059:G18A	ENSP00000264366:G153A	G	+	2	0	ANK2	114372839	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.536000	0.60636	2.668000	0.90789	0.655000	0.94253	GGA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.378	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	82	0.00	0	G	NM_001148		114153390	114153390	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	118	19.73	29	SNP	1.000	C
AVL9	23080	genome.wustl.edu	37	7	32590994	32590994	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr7:32590994T>G	ENST00000318709.4	+	5	642	c.421T>G	c.(421-423)Tat>Gat	p.Y141D	AVL9_ENST00000409301.1_Missense_Mutation_p.Y141D|AVL9_ENST00000404479.1_Missense_Mutation_p.Y141D	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	141					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACACATGCATATTTTGAAGA	0.308																																						dbGAP											0													105.0	108.0	107.0					7																	32590994		2203	4293	6496	-	-	-	SO:0001583	missense	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.421T>G	7.37:g.32590994T>G	ENSP00000315568:p.Tyr141Asp		Q92573	Missense_Mutation	SNP	pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347	p.Y141D	ENST00000318709.4	37	c.421	CCDS34613.1	7	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642639	0.87859	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75057	0.3798	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.79487	-0.1783	10	0.87932	D	0	-21.2222	15.785	0.78294	0.0:0.0:0.0:1.0	.	141;141	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	D	141;141;141;141;72	ENSP00000315568:Y141D;ENSP00000387011:Y141D;ENSP00000385242:Y141D;ENSP00000395134:Y72D	ENSP00000315568:Y141D	Y	+	1	0	AVL9	32557519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.136000	0.66102	0.383000	0.25322	TAT	AVL9	-	pfam_Secretory_pathway_prot_Avl9,pfam_DUF2347	ENSG00000105778		0.308	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	74	0.00	0	T	NM_015060		32590994	32590994	+1	no_errors	ENST00000404479	ensembl	human	known	69_37n	missense	93	16.22	18	SNP	1.000	G
BHLHB9	80823	genome.wustl.edu	37	X	102004787	102004787	+	Silent	SNP	C	C	T			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chrX:102004787C>T	ENST00000372735.1	+	4	1449	c.864C>T	c.(862-864)tgC>tgT	p.C288C	BHLHB9_ENST00000457056.1_Silent_p.C288C|BHLHB9_ENST00000448867.1_Silent_p.C288C|BHLHB9_ENST00000361229.4_Silent_p.C288C|BHLHB9_ENST00000447531.1_Silent_p.C288C			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	288					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGACCCCTGCATCCAGACCA	0.473																																						dbGAP											0													83.0	75.0	78.0					X																	102004787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.864C>T	X.37:g.102004787C>T			Q9C0G2	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.C288	ENST00000372735.1	37	c.864	CCDS14502.1	X																																																																																			BHLHB9	-	NULL	ENSG00000198908		0.473	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	16	0.00	0	C	NM_030639		102004787	102004787	+1	no_errors	ENST00000361229	ensembl	human	known	69_37n	silent	35	27.08	13	SNP	0.567	T
BORA	79866	genome.wustl.edu	37	13	73320690	73320690	+	Missense_Mutation	SNP	C	C	T	rs1146858	byFrequency	TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr13:73320690C>T	ENST00000390667.5	+	10	1020	c.923C>T	c.(922-924)tCt>tTt	p.S308F	BORA_ENST00000377815.3_Missense_Mutation_p.S238F	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	308			S -> F (in dbSNP:rs1146858).		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GGAACAAATTCTAATGGGATA	0.368																																						dbGAP											0													71.0	68.0	69.0					13																	73320690		1822	4080	5902	-	-	-	SO:0001583	missense	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.923C>T	13.37:g.73320690C>T	ENSP00000375082:p.Ser308Phe		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.S308F	ENST00000390667.5	37	c.923	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893527	0.52121	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.54675	0.56;0.56	5.94	1.08	0.20341	.	0.529769	0.22453	N	0.059863	T	0.50309	0.1608	L	0.50333	1.59	0.09310	N	1	D;P;D;P	0.53885	0.963;0.874;0.963;0.874	P;P;P;P	0.53809	0.735;0.667;0.735;0.667	T	0.42361	-0.9456	10	0.62326	D	0.03	-1.928	2.8027	0.05419	0.1164:0.4656:0.2269:0.1911	rs1146858;rs1146858	238;308;368;308	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	F	238;308	ENSP00000367046:S238F;ENSP00000375082:S308F	ENSP00000367046:S238F	S	+	2	0	BORA	72218691	0.741000	0.28217	0.002000	0.10522	0.971000	0.66376	1.308000	0.33528	0.100000	0.17581	0.650000	0.86243	TCT	BORA	-	NULL	ENSG00000136122		0.368	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	24	0.00	0	C	NM_024808		73320690	73320690	+1	no_errors	ENST00000390667	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.000	T
C1orf116	79098	genome.wustl.edu	37	1	207195445	207195445	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:207195445C>A	ENST00000359470.5	-	4	1913	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	C1orf116_ENST00000461135.2_Missense_Mutation_p.S309I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	555						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCGCTTGGAGCTCTGCTCCTG	0.602																																						dbGAP											0													44.0	45.0	45.0					1																	207195445		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1664G>T	1.37:g.207195445C>A	ENSP00000352447:p.Ser555Ile		C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.S555I	ENST00000359470.5	37	c.1664	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532697	0.45073	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.09817	2.94;2.94	5.24	-0.204	0.13200	.	0.938903	0.09180	N	0.837502	T	0.07683	0.0193	L	0.29908	0.895	0.09310	N	1	P	0.37276	0.589	B	0.35813	0.211	T	0.34378	-0.9831	10	0.54805	T	0.06	-2.5904	5.8431	0.18645	0.0:0.5497:0.131:0.3193	.	555	Q9BW04	SARG_HUMAN	I	555;309	ENSP00000352447:S555I;ENSP00000436862:S309I	ENSP00000352447:S555I	S	-	2	0	C1orf116	205262068	0.000000	0.05858	0.019000	0.16419	0.995000	0.86356	-0.172000	0.09868	0.156000	0.19299	0.655000	0.94253	AGC	C1orf116	-	NULL	ENSG00000182795		0.602	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	33	0.00	0	C	NM_024115		207195445	207195445	-1	no_errors	ENST00000359470	ensembl	human	known	69_37n	missense	68	13.92	11	SNP	0.000	A
CCDC82	79780	genome.wustl.edu	37	11	96117385	96117387	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr11:96117385_96117387delTCT	ENST00000278520.5	-	3	953_955	c.525_527delAGA	c.(523-528)gaagac>gac	p.E175del	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000542662.1_In_Frame_Del_p.E175del|CCDC82_ENST00000423339.2_In_Frame_Del_p.E175del			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	175										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGCTTGATGTCTTCTTCTTCTA	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.525_527delAGA	11.37:g.96117394_96117396delTCT	ENSP00000278520:p.Glu175del		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	In_Frame_Del	DEL	NULL	p.E175in_frame_del	ENST00000278520.5	37	c.527_525	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.360	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	139	0.00	0	TCT	NM_024725		96117385	96117387	-1	no_errors	ENST00000278520	ensembl	human	known	69_37n	in_frame_del	196	16.46	39	DEL	0.005:0.012:0.029	-
CTNND1	1500	genome.wustl.edu	37	11	57569469	57569469	+	Silent	SNP	C	C	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr11:57569469C>G	ENST00000399050.4	+	7	1757	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	CTNND1_ENST00000524630.1_Silent_p.L407L|CTNND1_ENST00000358694.6_Silent_p.L407L|CTNND1_ENST00000531014.1_Silent_p.L84L|CTNND1_ENST00000426142.2_Silent_p.L306L|CTNND1_ENST00000534579.1_Silent_p.L353L|CTNND1_ENST00000526772.1_Silent_p.L84L|CTNND1_ENST00000428599.2_Silent_p.L407L|CTNND1_ENST00000528232.1_Silent_p.L306L|CTNND1_ENST00000361391.6_Silent_p.L407L|CTNND1_ENST00000529919.1_Silent_p.L407L|CTNND1_ENST00000360682.6_Silent_p.L407L|CTNND1_ENST00000528621.1_Silent_p.L353L|CTNND1_ENST00000530748.1_Silent_p.L353L|CTNND1_ENST00000530094.1_Silent_p.L306L|CTNND1_ENST00000526938.1_Silent_p.L407L|CTNND1_ENST00000532787.1_Silent_p.L306L|CTNND1_ENST00000361332.4_Silent_p.L407L|CTNND1_ENST00000532844.1_Silent_p.L353L|CTNND1_ENST00000415361.2_Silent_p.L306L|CTNND1_ENST00000532463.1_Silent_p.L306L|CTNND1_ENST00000525902.1_Silent_p.L84L|CTNND1_ENST00000533667.1_Silent_p.L84L|CTNND1_ENST00000532245.1_Silent_p.L306L|CTNND1_ENST00000529986.1_Silent_p.L306L|CTNND1_ENST00000532649.1_Silent_p.L353L|CTNND1_ENST00000529873.1_Silent_p.L353L|CTNND1_ENST00000361796.4_Silent_p.L407L|CTNND1_ENST00000527467.1_Silent_p.L84L|CTNND1_ENST00000529526.1_Silent_p.L353L|CTNND1_ENST00000399039.4_Silent_p.L407L|CTNND1_ENST00000526357.1_Silent_p.L353L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	407					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGCGGAAGCTCAAGGGCATCC	0.507																																						dbGAP											0													135.0	137.0	136.0					11																	57569469		2008	4180	6188	-	-	-	SO:0001819	synonymous_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1221C>G	11.37:g.57569469C>G			A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L407	ENST00000399050.4	37	c.1221	CCDS44604.1	11																																																																																			CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000198561		0.507	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	42	0.00	0	C	NM_001331		57569469	57569469	+1	no_errors	ENST00000399050	ensembl	human	known	69_37n	silent	59	11.94	8	SNP	1.000	G
CUBN	8029	genome.wustl.edu	37	10	16967642	16967642	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr10:16967642C>T	ENST00000377833.4	-	42	6468	c.6403G>A	c.(6403-6405)Gaa>Aaa	p.E2135K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2135	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGCTGTTCAAAATGGACA	0.473																																						dbGAP											0													71.0	68.0	69.0					10																	16967642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6403G>A	10.37:g.16967642C>T	ENSP00000367064:p.Glu2135Lys		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E2135K	ENST00000377833.4	37	c.6403	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895732	0.91962	.	.	ENSG00000107611	ENST00000377833	T	0.18810	2.19	5.65	5.65	0.86999	CUB (5);	0.000000	0.45126	D	0.000394	T	0.33147	0.0853	L	0.50847	1.595	0.80722	D	1	P	0.49635	0.926	P	0.50570	0.644	T	0.00657	-1.1623	10	0.39692	T	0.17	.	19.7198	0.96137	0.0:1.0:0.0:0.0	.	2135	O60494	CUBN_HUMAN	K	2135	ENSP00000367064:E2135K	ENSP00000367064:E2135K	E	-	1	0	CUBN	17007648	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	5.975000	0.70475	2.668000	0.90789	0.655000	0.94253	GAA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	42	0.00	0	C	NM_001081		16967642	16967642	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	1.000	T
DIP2A	23181	genome.wustl.edu	37	21	47931375	47931375	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr21:47931375C>G	ENST00000417564.2	+	8	971	c.950C>G	c.(949-951)aCg>aGg	p.T317R	DIP2A_ENST00000427143.2_Missense_Mutation_p.T253R|DIP2A_ENST00000457905.3_Missense_Mutation_p.T317R|DIP2A_ENST00000318711.7_Missense_Mutation_p.T318R|DIP2A_ENST00000435722.3_Missense_Mutation_p.T317R|DIP2A_ENST00000400274.1_Missense_Mutation_p.T313R|DIP2A_ENST00000466639.1_Missense_Mutation_p.T274R			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	317					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGAAGCGAGACGAGTGTGCTG	0.547																																						dbGAP											0													34.0	36.0	35.0					21																	47931375		1986	4153	6139	-	-	-	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.950C>G	21.37:g.47931375C>G	ENSP00000392066:p.Thr317Arg		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.T318R	ENST00000417564.2	37	c.953	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403626	0.25291	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.44	-3.35	0.04928	.	0.155726	0.56097	D	0.000037	T	0.30665	0.0772	N	0.14661	0.345	0.25228	N	0.98985	B;B;B;B;B;B	0.27951	0.061;0.195;0.025;0.03;0.162;0.068	B;B;B;B;B;B	0.42343	0.058;0.384;0.004;0.058;0.265;0.066	T	0.44298	-0.9337	10	0.59425	D	0.04	-15.9376	11.5551	0.50743	0.0:0.4612:0.0:0.5388	.	318;253;274;317;317;317	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	R	313;253;318;274;317;274;317;317	ENSP00000383133:T313R;ENSP00000400528:T253R;ENSP00000323633:T318R;ENSP00000393434:T317R;ENSP00000430249:T274R;ENSP00000415089:T317R;ENSP00000392066:T317R	ENSP00000323633:T318R	T	+	2	0	DIP2A	46755803	1.000000	0.71417	0.009000	0.14445	0.003000	0.03518	1.663000	0.37429	-0.934000	0.03733	-0.253000	0.11424	ACG	DIP2A	-	NULL	ENSG00000160305		0.547	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	21	0.00	0	C	NM_015151		47931375	47931375	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.985	G
FAM151A	338094	genome.wustl.edu	37	1	55075124	55075124	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:55075124T>C	ENST00000302250.2	-	8	1735	c.1575A>G	c.(1573-1575)atA>atG	p.I525M	ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.I338M|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	525						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GCAGCCTGCCTATGGCTCCAG	0.622																																						dbGAP											0													55.0	54.0	55.0					1																	55075124		2202	4297	6499	-	-	-	SO:0001583	missense	0			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1575A>G	1.37:g.55075124T>C	ENSP00000306888:p.Ile525Met		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.I525M	ENST00000302250.2	37	c.1575	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	T	6.043	0.376341	0.11466	.	.	ENSG00000162391	ENST00000302250;ENST00000294370	T	0.11169	2.8	4.28	1.38	0.22167	.	0.253008	0.26362	N	0.024808	T	0.07728	0.0194	L	0.34521	1.04	0.80722	D	1	B	0.16166	0.016	B	0.11329	0.006	T	0.19063	-1.0317	10	0.62326	D	0.03	-18.1353	6.3089	0.21154	0.0:0.5733:0.0:0.4267	.	525	Q8WW52	F151A_HUMAN	M	525;338	ENSP00000306888:I525M	ENSP00000294370:I338M	I	-	3	3	FAM151A	54847712	0.547000	0.26465	0.607000	0.28956	0.084000	0.17831	0.099000	0.15210	0.324000	0.23333	-0.242000	0.12053	ATA	FAM151A	-	pfam_DUF2181	ENSG00000162391		0.622	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	22	0.00	0	T	NM_176782		55075124	55075124	-1	no_errors	ENST00000302250	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	0.961	C
F13B	2165	genome.wustl.edu	37	1	197009842	197009842	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:197009842C>T	ENST00000367412.1	-	11	1805	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	588	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTTTCCATTTCAGTAAAAGAT	0.303																																						dbGAP											0													41.0	38.0	39.0					1																	197009842		2201	4294	6495	-	-	-	SO:0001583	missense	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1762G>A	1.37:g.197009842C>T	ENSP00000356382:p.Glu588Lys		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E588K	ENST00000367412.1	37	c.1762	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169452	0.21621	.	.	ENSG00000143278	ENST00000367412	D	0.83163	-1.69	5.59	3.7	0.42460	Complement control module (1);	0.927592	0.08773	N	0.895918	D	0.82453	0.5040	M	0.75447	2.3	0.24781	N	0.992816	B	0.22746	0.074	B	0.21917	0.037	T	0.68640	-0.5355	10	0.33141	T	0.24	.	10.4748	0.44659	0.0:0.8355:0.0:0.1645	.	588	P05160	F13B_HUMAN	K	588	ENSP00000356382:E588K	ENSP00000356382:E588K	E	-	1	0	F13B	195276465	0.953000	0.32496	0.029000	0.17559	0.223000	0.24884	1.657000	0.37366	0.803000	0.34113	0.655000	0.94253	GAA	F13B	-	superfamily_Complement_control_module	ENSG00000143278		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	31	0.00	0	C	NM_001994		197009842	197009842	-1	no_errors	ENST00000367412	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	0.344	T
FRG1B	284802	genome.wustl.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	G	A	rs76435412	byFrequency	TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr20:29625895G>A	ENST00000278882.3	+	5	519	c.139G>A	c.(139-141)Gga>Aga	p.G47R	FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R|FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	47										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.139G>A	20.37:g.29625895G>A	ENSP00000278882:p.Gly47Arg		C4AME5	Nonsense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.W8*	ENST00000278882.3	37	c.23		20	.	.	.	.	.	.	.	.	.	.	g	11.07	1.529986	0.27387	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.59502	0.26	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	.	.	.	0.58432	D	0.999996	P	0.36412	0.552	B	0.41894	0.369	T	0.59820	-0.7382	9	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	52	F5H5R5	.	R	47;52;47	ENSP00000408863:G52R	ENSP00000278882:G47R	G	+	1	0	FRG1B	28239556	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	8.114000	0.89570	1.250000	0.43966	0.184000	0.17185	GGA	FRG1B	-	pfam_FRG1,superfamily_Actin_cross-linking	ENSG00000149531		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	28	0.00	0	G	NR_003579		29625895	29625895	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000479318	ensembl	human	known	69_37n	nonsense	113	11.02	14	SNP	1.000	A
GALNT18	374378	genome.wustl.edu	37	11	11470443	11470443	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr11:11470443G>T	ENST00000227756.4	-	2	687	c.276C>A	c.(274-276)ttC>ttA	p.F92L		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	92					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGAGTCTGTGAAGGGCTCGG	0.612																																						dbGAP											0													21.0	23.0	22.0					11																	11470443		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.276C>A	11.37:g.11470443G>T	ENSP00000227756:p.Phe92Leu		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F92L	ENST00000227756.4	37	c.276	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454983	0.63290	.	.	ENSG00000110328	ENST00000227756	T	0.54071	0.59	5.36	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.40862	0.1134	L	0.39898	1.24	0.47584	D	0.999463	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.11485	T	0.65	.	12.7438	0.57268	0.0801:0.0:0.9199:0.0	.	92	Q6P9A2	GLTL4_HUMAN	L	92	ENSP00000227756:F92L	ENSP00000227756:F92L	F	-	3	2	GALNTL4	11427019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.471000	0.53107	1.259000	0.44117	0.561000	0.74099	TTC	GALNTL4	-	NULL	ENSG00000110328		0.612	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	HGNC	protein_coding	OTTHUMT00000385848.1	16	0.00	0	G	NM_198516		11470443	11470443	-1	no_errors	ENST00000227756	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	T
GTF3C1	2975	genome.wustl.edu	37	16	27517273	27517273	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr16:27517273T>A	ENST00000356183.4	-	10	1732	c.1717A>T	c.(1717-1719)Agc>Tgc	p.S573C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S573C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	573					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACTGTTGCTGTCCGCACAG	0.562																																						dbGAP											0													138.0	116.0	124.0					16																	27517273		2197	4300	6497	-	-	-	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1717A>T	16.37:g.27517273T>A	ENSP00000348510:p.Ser573Cys		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.S573C	ENST00000356183.4	37	c.1717	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935443	0.52866	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.24723	1.84	4.96	1.56	0.23342	.	0.812738	0.12124	N	0.497401	T	0.33147	0.0853	L	0.51422	1.61	0.09310	N	1	D;D	0.56968	0.963;0.978	P;P	0.55785	0.512;0.784	T	0.11494	-1.0585	10	0.66056	D	0.02	-6.6199	5.9543	0.19265	0.0:0.309:0.0:0.691	.	573;573	Q12789;Q12789-3	TF3C1_HUMAN;.	C	573;571	ENSP00000348510:S573C	ENSP00000348510:S573C	S	-	1	0	GTF3C1	27424774	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.574000	0.23714	0.434000	0.26340	0.533000	0.62120	AGC	GTF3C1	-	NULL	ENSG00000077235		0.562	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	49	0.00	0	T	NM_001520		27517273	27517273	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	missense	95	13.51	15	SNP	0.000	A
KIAA1024	23251	genome.wustl.edu	37	15	79748798	79748798	+	Silent	SNP	G	G	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr15:79748798G>A	ENST00000305428.3	+	2	384	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	103						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CTGCCAAGGAGAAGCTGCCCA	0.507																																						dbGAP											0													64.0	62.0	62.0					15																	79748798		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.309G>A	15.37:g.79748798G>A			A7MD43	Silent	SNP	pfam_UPF0258	p.E103	ENST00000305428.3	37	c.309	CCDS32306.1	15																																																																																			KIAA1024	-	NULL	ENSG00000169330		0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	30	0.00	0	G	NM_015206		79748798	79748798	+1	no_errors	ENST00000305428	ensembl	human	known	69_37n	silent	48	11.11	6	SNP	1.000	A
KSR2	283455	genome.wustl.edu	37	12	117962830	117962830	+	Silent	SNP	G	G	A	rs540286777		TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr12:117962830G>A	ENST00000339824.5	-	14	2773	c.2046C>T	c.(2044-2046)caC>caT	p.H682H	KSR2_ENST00000302438.5_Silent_p.H379H|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.H653H			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.H714H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCAGCGGCCGTGGTACACTT	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19594	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											54.0	58.0	57.0					12																	117962830		2087	4206	6293	-	-	-	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2046C>T	12.37:g.117962830G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.H682	ENST00000339824.5	37	c.2046		12																																																																																			KSR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000171435		0.607	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	54	0.00	0	G	NM_173598		117962830	117962830	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	silent	80	12.09	11	SNP	0.943	A
LPIN1	23175	genome.wustl.edu	37	2	11959665	11959665	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr2:11959665A>G	ENST00000256720.2	+	18	2443	c.2350A>G	c.(2350-2352)Aaa>Gaa	p.K784E	LPIN1_ENST00000449576.2_Missense_Mutation_p.K869E|LPIN1_ENST00000425416.2_Missense_Mutation_p.K790E|LPIN1_ENST00000404113.2_Missense_Mutation_p.K285E|LPIN1_ENST00000396097.1_Missense_Mutation_p.K514E|LPIN1_ENST00000396099.1_Missense_Mutation_p.K826E	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	784	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GACAGACATCAAAAACCTGTT	0.373																																						dbGAP											0													170.0	175.0	173.0					2																	11959665		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2350A>G	2.37:g.11959665A>G	ENSP00000256720:p.Lys784Glu		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.K869E	ENST00000256720.2	37	c.2605	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564455	0.86439	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.32	5.32	0.75619	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.280519	0.39475	N	0.001344	D	0.85392	0.5686	M	0.72479	2.2	0.58432	D	0.999997	P;D;B	0.54601	0.499;0.967;0.026	P;P;B	0.58820	0.472;0.846;0.314	D	0.87209	0.2246	10	0.72032	D	0.01	-16.9372	15.5944	0.76566	1.0:0.0:0.0:0.0	.	285;869;784	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	E	869;826;790;784;514;285	ENSP00000397908:K869E;ENSP00000379406:K826E;ENSP00000401522:K790E;ENSP00000256720:K784E;ENSP00000379404:K514E;ENSP00000386120:K285E	ENSP00000256720:K784E	K	+	1	0	LPIN1	11877116	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.032000	0.76498	2.145000	0.66743	0.533000	0.62120	AAA	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000134324		0.373	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	89	0.00	0	A	NM_145693		11959665	11959665	+1	no_errors	ENST00000449576	ensembl	human	known	69_37n	missense	99	22.05	28	SNP	1.000	G
MMD2	221938	genome.wustl.edu	37	7	4949608	4949608	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr7:4949608C>G	ENST00000404774.3	-	6	707	c.513G>C	c.(511-513)aaG>aaC	p.K171N	MMD2_ENST00000406755.1_Intron|MMD2_ENST00000401401.3_Intron	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	171						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCGTGCCGGCCTTAGGACATG	0.557																																						dbGAP											0													81.0	86.0	84.0					7																	4949608		2003	4181	6184	-	-	-	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.513G>C	7.37:g.4949608C>G	ENSP00000384690:p.Lys171Asn		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.K171N	ENST00000404774.3	37	c.513	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445101	0.25987	.	.	ENSG00000136297	ENST00000404774	.	.	.	5.3	4.41	0.53225	.	1.339850	0.04904	N	0.451878	T	0.40372	0.1114	N	0.14661	0.345	0.35874	D	0.828466	B	0.20887	0.049	B	0.22152	0.038	T	0.07065	-1.0792	9	0.19147	T	0.46	-4.5475	12.4734	0.55799	0.1676:0.8324:0.0:0.0	.	171	Q8IY49	PAQRA_HUMAN	N	171	.	ENSP00000384690:K171N	K	-	3	2	MMD2	4916134	0.079000	0.21365	0.082000	0.20525	0.002000	0.02628	1.492000	0.35594	1.219000	0.43474	0.644000	0.83932	AAG	MMD2	-	pfam_HlyIII-related	ENSG00000136297		0.557	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	14	0.00	0	C	NM_198403		4949608	4949608	-1	no_errors	ENST00000404774	ensembl	human	known	69_37n	missense	56	17.65	12	SNP	0.228	G
MST1L	11223	genome.wustl.edu	37	1	17083782	17083782	+	RNA	SNP	A	A	C	rs200844502	byFrequency	TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:17083782A>C	ENST00000455405.2	-	0	806							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GACACGCGTGAAGACGGCTGG	0.542																																						dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083782A>C			B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.F672C	ENST00000455405.2	37	c.2015		1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948793	0.34377	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.44483	D	0.000459	T	0.65333	0.2681	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69903	-0.5019	6	0.87932	D	0	.	5.2253	0.15391	0.9998:0.0:2.0E-4:0.0	.	672;698	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	C	672;698	.	ENSP00000439273:F672C	F	-	2	0	MST1P9	16956369	1.000000	0.71417	0.928000	0.36995	0.000000	0.00434	3.843000	0.55865	0.419000	0.25927	0.000000	0.15137	TTC	MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.542	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	12	0.00	0	A	NM_001271733		17083782	17083782	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	C
MST1L	11223	genome.wustl.edu	37	1	17085795	17085795	+	RNA	SNP	G	G	T	rs1057379	byFrequency	TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:17085795G>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.I332I(2)|p.I342I(2)									TACAACGCCGGATCTGGTAGC	0.687																																						dbGAP											4	Substitution - coding silent(4)	kidney(2)|endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085795G>T			B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.I342	ENST00000455405.2	37	c.1026		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.687	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	12	0.00	0	G	NM_001271733		17085795	17085795	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	1.000	T
MUM1L1	139221	genome.wustl.edu	37	X	105450851	105450851	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chrX:105450851T>G	ENST00000357175.2	+	4	2075	c.1426T>G	c.(1426-1428)Tac>Gac	p.Y476D	MUM1L1_ENST00000337685.2_Missense_Mutation_p.Y476D|MUM1L1_ENST00000372552.1_Missense_Mutation_p.Y476D	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	476						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATTTGTGACTACAGAGTTAG	0.373																																						dbGAP											0													82.0	74.0	77.0					X																	105450851		1851	4076	5927	-	-	-	SO:0001583	missense	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1426T>G	X.37:g.105450851T>G	ENSP00000349699:p.Tyr476Asp		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.Y476D	ENST00000357175.2	37	c.1426	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	T	15.03	2.713589	0.48517	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.69685	-0.42;-0.42;-0.42	4.31	4.31	0.51392	.	0.000000	0.47852	D	0.000215	T	0.78685	0.4322	M	0.73598	2.24	0.38625	D	0.951231	D	0.89917	1.0	D	0.97110	1.0	T	0.81895	-0.0723	10	0.87932	D	0	-25.9306	8.8406	0.35140	0.0:0.0:0.0:1.0	.	476	Q5H9M0	MUML1_HUMAN	D	476	ENSP00000349699:Y476D;ENSP00000338641:Y476D;ENSP00000361632:Y476D	ENSP00000338641:Y476D	Y	+	1	0	MUM1L1	105337507	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.520000	0.67080	1.908000	0.55244	0.430000	0.28490	TAC	MUM1L1	-	NULL	ENSG00000157502		0.373	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	49	0.00	0	T	NM_152423		105450851	105450851	+1	no_errors	ENST00000337685	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	1.000	G
MYLK3	91807	genome.wustl.edu	37	16	46764603	46764603	+	Silent	SNP	A	A	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr16:46764603A>G	ENST00000394809.4	-	5	1585	c.1470T>C	c.(1468-1470)agT>agC	p.S490S	MYLK3_ENST00000536476.1_Silent_p.S149S	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	490					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTGGGGCCGGACTGTCATCTG	0.592																																						dbGAP											0													115.0	103.0	107.0					16																	46764603		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1470T>C	16.37:g.46764603A>G			B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S490	ENST00000394809.4	37	c.1470	CCDS10723.2	16																																																																																			MYLK3	-	NULL	ENSG00000140795		0.592	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	29	0.00	0	A	NM_182493		46764603	46764603	-1	no_errors	ENST00000394809	ensembl	human	known	69_37n	silent	67	22.99	20	SNP	0.978	G
OR10G7	390265	genome.wustl.edu	37	11	123909447	123909447	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr11:123909447C>T	ENST00000330487.5	-	1	270	c.262G>A	c.(262-264)Ggc>Agc	p.G88S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATAGTCCTGCCGCTTGGGGAC	0.527																																						dbGAP											0													201.0	216.0	211.0					11																	123909447		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.262G>A	11.37:g.123909447C>T	ENSP00000329689:p.Gly88Ser		Q6IFE8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G88S	ENST00000330487.5	37	c.262	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.578046	0.00879	.	.	ENSG00000182634	ENST00000330487	T	0.02916	4.11	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000128	T	0.01092	0.0036	N	0.02842	-0.48	0.09310	N	1	P	0.35011	0.48	B	0.33846	0.171	T	0.46048	-0.9219	10	0.02654	T	1	.	7.5987	0.28063	0.0:0.8269:0.0:0.1731	.	88	Q8NGN6	O10G7_HUMAN	S	88	ENSP00000329689:G88S	ENSP00000329689:G88S	G	-	1	0	OR10G7	123414657	0.000000	0.05858	0.067000	0.19924	0.080000	0.17528	-1.094000	0.03359	1.910000	0.55303	0.455000	0.32223	GGC	OR10G7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182634		0.527	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	116	0.00	0	C	NM_001004463		123909447	123909447	-1	no_errors	ENST00000330487	ensembl	human	known	69_37n	missense	235	11.32	30	SNP	0.000	T
OR2L13	284521	genome.wustl.edu	37	1	248263455	248263455	+	Missense_Mutation	SNP	C	C	T	rs202188433		TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:248263455C>T	ENST00000358120.2	+	2	923	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	OR2L13_ENST00000366478.2_Missense_Mutation_p.R260W			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	260						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(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CACCTATCTTCGGCCCAGGAA	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16895	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													123.0	121.0	122.0					1																	248263455		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.778C>T	1.37:g.248263455C>T	ENSP00000350836:p.Arg260Trp		Q5VUR5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R260W	ENST00000358120.2	37	c.778	CCDS1637.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.12	1.264307	0.23136	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.37915	1.17;1.17	4.08	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.177126	0.26058	N	0.026584	T	0.31040	0.0784	M	0.70903	2.155	0.09310	N	1	B	0.27932	0.194	B	0.24541	0.054	T	0.21280	-1.0250	10	0.45353	T	0.12	.	7.4108	0.27016	0.5178:0.3969:0.0:0.0854	.	260	Q8N349	OR2LD_HUMAN	W	260	ENSP00000355434:R260W;ENSP00000350836:R260W	ENSP00000350836:R260W	R	+	1	2	OR2L13	246330078	0.000000	0.05858	0.012000	0.15200	0.509000	0.34042	-1.495000	0.02294	0.001000	0.14605	0.555000	0.69702	CGG	OR2L13	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196071		0.463	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	44	0.00	0	C	NM_175911		248263455	248263455	+1	no_errors	ENST00000358120	ensembl	human	known	69_37n	missense	81	33.61	41	SNP	0.000	T
OR2M7	391196	genome.wustl.edu	37	1	248487711	248487711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:248487711G>A	ENST00000317965.2	-	1	188	c.160C>T	c.(160-162)Cag>Tag	p.Q54*		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGAGCTGGGTATCCAGG	0.532																																						dbGAP											0													301.0	286.0	291.0					1																	248487711		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.160C>T	1.37:g.248487711G>A	ENSP00000324557:p.Gln54*		B2RNL0|Q6IEX6	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q54*	ENST00000317965.2	37	c.160	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	G	7.483	0.648981	0.14516	.	.	ENSG00000177186	ENST00000317965	.	.	.	1.55	1.55	0.23275	.	0.733878	0.10622	U	0.653212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.8566	0.24044	0.1619:0.0:0.8381:0.0	.	.	.	.	X	54	.	ENSP00000324557:Q54X	Q	-	1	0	OR2M7	246554334	0.000000	0.05858	0.349000	0.25694	0.032000	0.12392	-0.074000	0.11450	0.850000	0.35239	0.194000	0.17425	CAG	OR2M7	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177186		0.532	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	141	0.00	0	G	NM_001004691		248487711	248487711	-1	no_errors	ENST00000317965	ensembl	human	known	69_37n	nonsense	375	17.90	82	SNP	0.003	A
PKD1L2	114780	genome.wustl.edu	37	16	81242149	81242150	+	RNA	DEL	TT	TT	-	rs55980345|rs75398810|rs532218091|rs548490632|rs386792900	byFrequency	TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr16:81242149_81242150delTT	ENST00000525539.1	-	0	705_706				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.N236fs*26(6)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGGACACAGGTTTCCAAAGTAG	0.554																																						dbGAP											6	Deletion - Frameshift(6)	breast(4)|lung(2)																																								-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81242149_81242150delTT			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Frame_Shift_Del	DEL	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.N236fs	ENST00000525539.1	37	c.707_706		16																																																																																			PKD1L2	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom	ENSG00000166473		0.554	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	11	0.00	0	TT			81242149	81242150	-1	no_errors	ENST00000337114	ensembl	human	known	69_37n	frame_shift_del	27	48.08	25	DEL	0.998:0.999	-
PTGS2	5743	genome.wustl.edu	37	1	186648296	186648296	+	Silent	SNP	G	G	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:186648296G>A	ENST00000367468.5	-	3	343	c.207C>T	c.(205-207)ccC>ccT	p.P69P	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	69					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TGTTTGGAGTGGGTTTCAGAA	0.368																																						dbGAP											0													93.0	93.0	93.0					1																	186648296		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.207C>T	1.37:g.186648296G>A			A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal	p.P69	ENST00000367468.5	37	c.207	CCDS1371.1	1																																																																																			PTGS2	-	superfamily_Haem_peroxidase	ENSG00000073756		0.368	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	47	0.00	0	G	NM_000963		186648296	186648296	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	silent	102	12.07	14	SNP	0.377	A
SLC39A4	55630	genome.wustl.edu	37	8	145640174	145640174	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr8:145640174T>A	ENST00000301305.3	-	5	1016	c.911A>T	c.(910-912)cAg>cTg	p.Q304L	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Missense_Mutation_p.Q279L	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	304					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCCACTCAGCTGCTGTTGGAG	0.657																																						dbGAP											0													52.0	54.0	53.0					8																	145640174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.911A>T	8.37:g.145640174T>A	ENSP00000301305:p.Gln304Leu		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	pfam_ZIP	p.Q304L	ENST00000301305.3	37	c.911	CCDS6424.1	8	.	.	.	.	.	.	.	.	.	.	T	9.845	1.191987	0.21954	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.57107	0.42;0.63	4.98	4.98	0.66077	.	0.373720	0.26828	N	0.022284	T	0.38134	0.1029	L	0.50333	1.59	0.36694	D	0.879767	P;B	0.39551	0.678;0.15	B;B	0.33690	0.168;0.012	T	0.45175	-0.9279	10	0.02654	T	1	-19.829	11.0906	0.48113	0.0:0.0:0.0:1.0	.	304;279	Q6P5W5;A6NDY5	S39A4_HUMAN;.	L	279;304	ENSP00000276833:Q279L;ENSP00000301305:Q304L	ENSP00000276833:Q279L	Q	-	2	0	SLC39A4	145610982	0.996000	0.38824	1.000000	0.80357	0.915000	0.54546	1.317000	0.33631	1.903000	0.55091	0.444000	0.29173	CAG	SLC39A4	-	NULL	ENSG00000147804		0.657	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A4	HGNC	protein_coding	OTTHUMT00000382688.1	11	0.00	0	T			145640174	145640174	-1	no_errors	ENST00000301305	ensembl	human	known	69_37n	missense	24	47.83	22	SNP	0.998	A
STAB1	23166	genome.wustl.edu	37	3	52544484	52544484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr3:52544484C>A	ENST00000321725.6	+	25	2824	c.2748C>A	c.(2746-2748)tgC>tgA	p.C916*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	916	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GAGGTGGCTGCCACACCGATG	0.647																																						dbGAP											0													62.0	55.0	58.0					3																	52544484		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2748C>A	3.37:g.52544484C>A	ENSP00000312946:p.Cys916*		A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C916*	ENST00000321725.6	37	c.2748	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.788667	0.97841	.	.	ENSG00000010327	ENST00000321725	.	.	.	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8304	0.63377	0.0:0.9233:0.0:0.0767	.	.	.	.	X	916	.	ENSP00000312946:C916X	C	+	3	2	STAB1	52519524	0.996000	0.38824	1.000000	0.80357	0.357000	0.29423	0.447000	0.21710	1.418000	0.47098	0.655000	0.94253	TGC	STAB1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000010327		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	34	0.00	0	C	NM_015136		52544484	52544484	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	nonsense	100	19.53	25	SNP	1.000	A
SLC7A14	57709	genome.wustl.edu	37	3	170184915	170184915	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr3:170184915C>G	ENST00000231706.5	-	8	2559	c.2244G>C	c.(2242-2244)aaG>aaC	p.K748N	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	748					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCTTTTGCTCTTCGCTTTGC	0.488																																						dbGAP											0													159.0	135.0	143.0					3																	170184915		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2244G>C	3.37:g.170184915C>G	ENSP00000231706:p.Lys748Asn		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.K748N	ENST00000231706.5	37	c.2244	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310187	0.40895	.	.	ENSG00000013293	ENST00000231706	D	0.88896	-2.44	5.82	3.68	0.42216	.	0.224671	0.38058	N	0.001833	T	0.76018	0.3929	N	0.14661	0.345	0.46654	D	0.999149	B	0.09022	0.002	B	0.06405	0.002	T	0.67860	-0.5561	10	0.27785	T	0.31	.	6.2904	0.21057	0.0:0.6171:0.0:0.3829	.	748	Q8TBB6	S7A14_HUMAN	N	748	ENSP00000231706:K748N	ENSP00000231706:K748N	K	-	3	2	SLC7A14	171667609	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.463000	0.45058	1.449000	0.47699	0.655000	0.94253	AAG	SLC7A14	-	NULL	ENSG00000013293		0.488	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	25	0.00	0	C	NM_020949		170184915	170184915	-1	no_errors	ENST00000231706	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	G
STIL	6491	genome.wustl.edu	37	1	47748020	47748020	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr1:47748020C>G	ENST00000360380.3	-	12	1608	c.1245G>C	c.(1243-1245)caG>caC	p.Q415H	STIL_ENST00000371877.3_Missense_Mutation_p.Q415H|STIL_ENST00000396221.2_Missense_Mutation_p.Q415H|STIL_ENST00000337817.5_Missense_Mutation_p.Q415H|STIL_ENST00000243182.6_Missense_Mutation_p.Q415H	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	415					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTGATACCTTCTGACTCACTG	0.373																																						dbGAP											0													121.0	125.0	124.0					1																	47748020		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1245G>C	1.37:g.47748020C>G	ENSP00000353544:p.Gln415His		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.Q415H	ENST00000360380.3	37	c.1245	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760146	0.49468	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.45	1.3	0.21679	.	0.101517	0.64402	D	0.000001	T	0.71082	0.3298	M	0.76838	2.35	0.53005	D	0.999967	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.69142	0.959;0.959;0.959;0.962;0.962	T	0.70135	-0.4955	10	0.87932	D	0	-3.4653	9.4498	0.38719	0.0:0.5472:0.0:0.4528	.	415;368;415;415;415	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	H	415;415;415;415;415;368	ENSP00000353544:Q415H;ENSP00000337367:Q415H;ENSP00000360944:Q415H;ENSP00000379523:Q415H;ENSP00000243182:Q415H;ENSP00000411664:Q368H	ENSP00000243182:Q415H	Q	-	3	2	STIL	47520607	0.997000	0.39634	0.998000	0.56505	0.722000	0.41435	0.308000	0.19314	-0.024000	0.13941	-0.367000	0.07326	CAG	STIL	-	NULL	ENSG00000123473		0.373	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	51	0.00	0	C	NM_003035		47748020	47748020	-1	no_errors	ENST00000371877	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.999	G
VPS13C	54832	genome.wustl.edu	37	15	62202485	62202485	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr15:62202485T>A	ENST00000261517.5	-	64	8808	c.8735A>T	c.(8734-8736)gAa>gTa	p.E2912V	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2869V|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2912V|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2869V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGACAAACTTTCTGGCCAAAA	0.333																																						dbGAP											0													49.0	51.0	51.0					15																	62202485		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8735A>T	15.37:g.62202485T>A	ENSP00000261517:p.Glu2912Val			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E2912V	ENST00000261517.5	37	c.8735	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642138	0.87859	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.33438	1.41;1.41;1.41	5.85	5.85	0.93711	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.80746	2.51	0.80722	D	1	P;P;P;P;P	0.45531	0.86;0.723;0.851;0.86;0.771	P;P;P;P;P	0.54140	0.743;0.655;0.71;0.639;0.672	T	0.58200	-0.7678	10	0.87932	D	0	.	15.911	0.79473	0.0:0.0:0.0:1.0	.	2912;2869;2912;2869;2912	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	V	2869;2912;2912;2912	ENSP00000249837:E2869V;ENSP00000261517:E2912V;ENSP00000379233:E2912V	ENSP00000249837:E2869V	E	-	2	0	VPS13C	59989777	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.956000	0.76013	2.222000	0.72286	0.533000	0.62120	GAA	VPS13C	-	pfam_VPSAP	ENSG00000129003		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	36	0.00	0	T	NM_017684		62202485	62202485	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	1.000	A
ZNF431	170959	genome.wustl.edu	37	19	21365903	21365903	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A22A-01A-11D-A159-09	TCGA-E9-A22A-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	25bf7831-6878-4bac-b23d-e94a555b2232	8ecfa244-c94c-4b57-8b3b-a1035c270042	g.chr19:21365903G>C	ENST00000311048.7	+	5	941	c.797G>C	c.(796-798)gGc>gCc	p.G266A	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	266					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GAAGAATGTGGCAAAGCTTTT	0.398																																						dbGAP											0													45.0	49.0	47.0					19																	21365903		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.797G>C	19.37:g.21365903G>C	ENSP00000308578:p.Gly266Ala		A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G266A	ENST00000311048.7	37	c.797	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	14.11	2.437780	0.43326	.	.	ENSG00000196705	ENST00000311048	T	0.07114	3.22	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	M	0.68593	2.085	0.32317	N	0.562942	D	0.89917	1.0	D	0.79108	0.992	T	0.18681	-1.0329	9	0.87932	D	0	.	8.8725	0.35325	0.0:0.0:1.0:0.0	.	266	Q8TF32	ZN431_HUMAN	A	266	ENSP00000308578:G266A	ENSP00000308578:G266A	G	+	2	0	ZNF431	21157743	0.983000	0.35010	0.891000	0.34965	0.886000	0.51366	1.726000	0.38085	0.446000	0.26666	0.449000	0.29647	GGC	ZNF431	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.398	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	15	0.00	0	G	XM_086098		21365903	21365903	+1	no_errors	ENST00000311048	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	C
