#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
AKAP1	8165	genome.wustl.edu	37	17	55183615	55183615	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr17:55183615G>C	ENST00000337714.3	+	2	1023	c.790G>C	c.(790-792)Gca>Cca	p.A264P	AKAP1_ENST00000571629.1_Missense_Mutation_p.A264P|AKAP1_ENST00000314126.3_Missense_Mutation_p.A264P|AKAP1_ENST00000539273.1_Missense_Mutation_p.A264P|AKAP1_ENST00000572557.1_Missense_Mutation_p.A264P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	264					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGAGTATGTAGCAGAGAAGTT	0.602																																						dbGAP											0													112.0	112.0	112.0					17																	55183615		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.790G>C	17.37:g.55183615G>C	ENSP00000337736:p.Ala264Pro		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.A264P	ENST00000337714.3	37	c.790	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528604	0.44969	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.20069	2.38;2.1;2.38	4.55	0.219	0.15274	.	1.671500	0.02845	N	0.128337	T	0.18759	0.0450	L	0.36672	1.1	0.09310	N	1	P	0.44877	0.845	B	0.41619	0.361	T	0.19289	-1.0310	10	0.49607	T	0.09	2.6207	4.9913	0.14216	0.2633:0.1556:0.5811:0.0	.	264	Q92667	AKAP1_HUMAN	P	264;264;306;264	ENSP00000337736:A264P;ENSP00000314075:A264P;ENSP00000443139:A264P	ENSP00000314075:A264P	A	+	1	0	AKAP1	52538614	0.009000	0.17119	0.000000	0.03702	0.300000	0.27592	1.197000	0.32211	0.216000	0.20781	0.561000	0.74099	GCA	AKAP1	-	NULL	ENSG00000121057		0.602	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	129	0.00	0	G			55183615	55183615	+1	no_errors	ENST00000337714	ensembl	human	known	69_37n	missense	358	22.34	103	SNP	0.001	C
AKR1B1	231	genome.wustl.edu	37	7	134136358	134136358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr7:134136358C>A	ENST00000285930.4	-	2	293	c.214G>T	c.(214-216)Gag>Tag	p.E72*	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	72					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	ATGAAGAGCTCCTCACGCTTC	0.587																																						dbGAP											0													118.0	97.0	104.0					7																	134136358		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.214G>T	7.37:g.134136358C>A	ENSP00000285930:p.Glu72*		B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E72*	ENST00000285930.4	37	c.214	CCDS5831.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.060052	0.97246	.	.	ENSG00000085662	ENST00000285930	.	.	.	5.23	5.23	0.72850	.	0.193737	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1639	0.89718	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000285930:E72X	E	-	1	0	AKR1B1	133786898	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.959000	0.70339	2.608000	0.88229	0.561000	0.74099	GAG	AKR1B1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000085662		0.587	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B1	HGNC	protein_coding	OTTHUMT00000339448.2	50	0.00	0	C	NM_001628		134136358	134136358	-1	no_errors	ENST00000285930	ensembl	human	known	69_37n	nonsense	123	23.12	37	SNP	1.000	A
ALDH1L2	160428	genome.wustl.edu	37	12	105443688	105443688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr12:105443688G>A	ENST00000258494.9	-	13	1824	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*		NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	562	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GTGCTTACCTGAATTTTGTCG	0.393																																						dbGAP											0													95.0	96.0	96.0					12																	105443688		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1684C>T	12.37:g.105443688G>A	ENSP00000258494:p.Gln562*		Q3SY68|Q68D62|Q6AI55|Q8N922	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.Q562*	ENST00000258494.9	37	c.1684	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.162360	0.98107	.	.	ENSG00000136010	ENST00000258494	.	.	.	5.7	5.7	0.88788	.	0.100416	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8321	0.96640	0.0:0.0:1.0:0.0	.	.	.	.	X	562	.	ENSP00000258494:Q562X	Q	-	1	0	ALDH1L2	103967818	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.751000	0.98889	2.685000	0.91497	0.655000	0.94253	CAG	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000136010		0.393	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	141	0.00	0	G	XM_090294		105443688	105443688	-1	no_errors	ENST00000258494	ensembl	human	known	69_37n	nonsense	78	16.13	15	SNP	1.000	A
ANKRD27	84079	genome.wustl.edu	37	19	33134217	33134217	+	Silent	SNP	G	G	A	rs200412555		TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr19:33134217G>A	ENST00000306065.4	-	8	839	c.681C>T	c.(679-681)taC>taT	p.Y227Y	ANKRD27_ENST00000587352.1_Silent_p.Y227Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	227					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGTCCCCACGTATTTAAAGA	0.453																																						dbGAP											0													130.0	131.0	130.0					19																	33134217		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.681C>T	19.37:g.33134217G>A			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.Y227	ENST00000306065.4	37	c.681	CCDS32986.1	19																																																																																			ANKRD27	-	NULL	ENSG00000105186		0.453	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	174	0.00	0	G	NM_032139		33134217	33134217	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	silent	122	21.29	33	SNP	0.594	A
ASH1L	55870	genome.wustl.edu	37	1	155348180	155348182	+	Splice_Site	DEL	TCT	TCT	-			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:155348180_155348182delTCT	ENST00000368346.3	-	10	6878	c.6239delAGA	c.(6238-6240)aag>ag	p.K2080del	ASH1L_ENST00000392403.3_Splice_Site_p.K2075del			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2080	Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACGTAGACATCTTGAAAAGAAA	0.409																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6239-1AGA>-	1.37:g.155348180_155348182delTCT			Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.N2080fs	ENST00000368346.3	37	c.6239		1																																																																																			ASH1L	-	NULL	ENSG00000116539		0.409	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	131	0.00	0	TCT	NM_018489	In_Frame_Del	155348180	155348182	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	frame_shift_del	176	14.15	29	DEL	1.000	-
CCDC73	493860	genome.wustl.edu	37	11	32636346	32636346	+	Silent	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr11:32636346C>T	ENST00000335185.5	-	16	1561	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	506										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTGTTGTCCGTAACATTCG	0.328																																						dbGAP											0													116.0	111.0	113.0					11																	32636346		1832	4080	5912	-	-	-	SO:0001819	synonymous_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1518G>A	11.37:g.32636346C>T			Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	NULL	p.T506	ENST00000335185.5	37	c.1518	CCDS41630.1	11																																																																																			CCDC73	-	NULL	ENSG00000186714		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	188	0.00	0	C	NM_001008391		32636346	32636346	-1	no_errors	ENST00000335185	ensembl	human	known	69_37n	silent	114	39.68	75	SNP	0.004	T
CCDC82	79780	genome.wustl.edu	37	11	96117839	96117839	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr11:96117839C>A	ENST00000278520.5	-	3	501	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	CCDC82_ENST00000542662.1_Missense_Mutation_p.D25Y|CCDC82_ENST00000423339.2_Missense_Mutation_p.D25Y|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	25										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)		CGCCTCCAATCAACTCGAGAT	0.348																																						dbGAP											0													87.0	82.0	84.0					11																	96117839		2200	4296	6496	-	-	-	SO:0001583	missense	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.73G>T	11.37:g.96117839C>A	ENSP00000278520:p.Asp25Tyr		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	NULL	p.D25Y	ENST00000278520.5	37	c.73	CCDS8307.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195838	0.78902	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.58358	0.49;0.49;0.49;0.34	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000009	T	0.73040	0.3536	M	0.70595	2.14	0.44168	D	0.996979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74262	-0.3722	10	0.87932	D	0	-30.2234	18.1503	0.89672	0.0:1.0:0.0:0.0	.	25;25	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	Y	25	ENSP00000278520:D25Y;ENSP00000444010:D25Y;ENSP00000397156:D25Y;ENSP00000442723:D25Y	ENSP00000278520:D25Y	D	-	1	0	CCDC82	95757487	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.436000	0.59948	2.885000	0.99019	0.655000	0.94253	GAT	CCDC82	-	NULL	ENSG00000149231		0.348	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	256	0.00	0	C	NM_024725		96117839	96117839	-1	no_errors	ENST00000278520	ensembl	human	known	69_37n	missense	125	31.69	58	SNP	1.000	A
CCNT1	904	genome.wustl.edu	37	12	49089558	49089558	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr12:49089558C>T	ENST00000261900.3	-	8	983	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	254					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTCCAAATGCGTTTGAGCCT	0.373																																						dbGAP											0													91.0	87.0	88.0					12																	49089558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.761G>A	12.37:g.49089558C>T	ENSP00000261900:p.Arg254His		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R254H	ENST00000261900.3	37	c.761	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	c	32	5.146881	0.94603	.	.	ENSG00000129315	ENST00000261900	T	0.43688	0.94	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	T	0.70396	-0.4883	10	0.87932	D	0	-3.3248	18.7919	0.91976	0.0:1.0:0.0:0.0	.	254	O60563	CCNT1_HUMAN	H	254	ENSP00000261900:R254H	ENSP00000261900:R254H	R	-	2	0	CCNT1	47375825	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.814000	0.86154	2.740000	0.93945	0.561000	0.74099	CGC	CCNT1	-	NULL	ENSG00000129315		0.373	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	271	0.37	1	C	NM_001240		49089558	49089558	-1	no_errors	ENST00000261900	ensembl	human	known	69_37n	missense	127	16.45	25	SNP	1.000	T
CDH12	1010	genome.wustl.edu	37	5	21802509	21802509	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr5:21802509C>G	ENST00000382254.1	-	10	2109	c.1023G>C	c.(1021-1023)aaG>aaC	p.K341N	CDH12_ENST00000504376.2_Missense_Mutation_p.K341N|CDH12_ENST00000522262.1_Missense_Mutation_p.K301N|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGTATGCCTTCTTTGTTTCAA	0.418										HNSCC(59;0.17)																												dbGAP											0													57.0	60.0	59.0					5																	21802509		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1023G>C	5.37:g.21802509C>G	ENSP00000371689:p.Lys341Asn		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K341N	ENST00000382254.1	37	c.1023	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623081	0.66901	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51071	0.72;0.72;0.72	5.77	4.72	0.59763	Cadherin (5);Cadherin-like (1);	0.044982	0.85682	D	0.000000	T	0.58481	0.2125	M	0.62209	1.925	0.45837	D	0.998706	B;D	0.58970	0.389;0.984	B;P	0.54499	0.378;0.754	T	0.62737	-0.6791	10	0.87932	D	0	.	14.6322	0.68663	0.0:0.8785:0.0:0.1215	.	301;341	B7Z2U6;P55289	.;CAD12_HUMAN	N	341;341;301	ENSP00000423577:K341N;ENSP00000371689:K341N;ENSP00000428786:K301N	ENSP00000371689:K341N	K	-	3	2	CDH12	21838266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.222000	0.32515	2.723000	0.93209	0.655000	0.94253	AAG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000154162		0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	110	0.00	0	C	NM_004061		21802509	21802509	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	missense	57	31.33	26	SNP	1.000	G
CHD3	1107	genome.wustl.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr17:7801857_7801859delAAG	ENST00000330494.7	+	13	2245_2247	c.2095_2097delAAG	c.(2095-2097)aagdel	p.K703del	CHD3_ENST00000380358.4_In_Frame_Del_p.K762del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Poly-Lys.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488																																						dbGAP											0									,,	1,4263		0,1,2131					,,	-0.1	1.0			78	5,8249		0,5,4122	no	coding,coding,coding	CHD3	NM_005852.3,NM_001005273.2,NM_001005271.2	,,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,,	,,		6,12512				-	-	-	SO:0001651	inframe_deletion	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2095_2097delAAG	17.37:g.7801866_7801868delAAG	ENSP00000332628:p.Lys703del		D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K702in_frame_del	ENST00000330494.7	37	c.2095_2097	CCDS32554.1	17																																																																																			CHD3	-	NULL	ENSG00000170004		0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	107	0.92	1	AAG	NM_001005273		7801857	7801859	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	in_frame_del	72	21.74	20	DEL	1.000:1.000:1.000	-
CSGALNACT1	55790	genome.wustl.edu	37	8	19277864	19277864	+	Silent	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr8:19277864C>T	ENST00000454498.2	-	7	2132	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	CSGALNACT1_ENST00000522854.1_Silent_p.L373L|CSGALNACT1_ENST00000332246.6_Silent_p.L373L|CSGALNACT1_ENST00000311540.4_Silent_p.L373L|CSGALNACT1_ENST00000544602.1_Silent_p.L373L|CSGALNACT1_ENST00000518542.1_5'Flank	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	373					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCTGTGTATTCAGCCTACACG	0.517																																						dbGAP											0													131.0	111.0	118.0					8																	19277864		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1119G>A	8.37:g.19277864C>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	pfam_Chond_GalNAc	p.L373	ENST00000454498.2	37	c.1119	CCDS6010.1	8																																																																																			CSGALNACT1	-	pfam_Chond_GalNAc	ENSG00000147408		0.517	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	94	0.00	0	C	NM_018371		19277864	19277864	-1	no_errors	ENST00000311540	ensembl	human	known	69_37n	silent	70	26.32	25	SNP	1.000	T
CPSF1	29894	genome.wustl.edu	37	8	145620395	145620395	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr8:145620395C>T	ENST00000349769.3	-	29	3284	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1064					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATGTACCGCTCATCTGTGGGG	0.627																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													39.0	39.0	39.0					8																	145620395		2202	4299	6501	-	-	-	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3190G>A	8.37:g.145620395C>T	ENSP00000339353:p.Glu1064Lys		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.E1064K	ENST00000349769.3	37	c.3190	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105171	0.56291	.	.	ENSG00000071894	ENST00000349769	T	0.46819	0.86	4.77	4.77	0.60923	.	0.244071	0.40469	N	0.001084	T	0.44307	0.1287	L	0.59436	1.845	0.58432	D	0.999995	B	0.06786	0.001	B	0.14578	0.011	T	0.33137	-0.9880	10	0.30078	T	0.28	-13.0013	13.6143	0.62099	0.0:1.0:0.0:0.0	.	1064	Q10570	CPSF1_HUMAN	K	1064	ENSP00000339353:E1064K	ENSP00000339353:E1064K	E	-	1	0	CPSF1	145591203	0.995000	0.38212	0.993000	0.49108	0.691000	0.40173	3.434000	0.52841	2.358000	0.79984	0.561000	0.74099	GAG	CPSF1	-	NULL	ENSG00000071894		0.627	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	37	0.00	0	C	NM_013291		145620395	145620395	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	missense	52	60.61	80	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11572453	11572453	+	Missense_Mutation	SNP	C	C	T	rs556779874		TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr17:11572453C>T	ENST00000262442.4	+	16	2872	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P935L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	935	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P935L(2)|p.P935R(1)|p.P935Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTTTCTATCCGTCTCTGGAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19701	0.0		0.0	False		,,,				2504	0.0					dbGAP											4	Substitution - Missense(4)	ovary(1)|NS(1)|lung(1)|kidney(1)											148.0	145.0	146.0					17																	11572453		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2804C>T	17.37:g.11572453C>T	ENSP00000262442:p.Pro935Leu		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.P935L	ENST00000262442.4	37	c.2804	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519123	0.64634	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.37058	1.28;1.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.89414	3.03	0.80722	D	1	D	0.64830	0.994	P	0.54026	0.74	T	0.69595	-0.5103	10	0.59425	D	0.04	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	935	Q9NYC9	DYH9_HUMAN	L	935	ENSP00000262442:P935L;ENSP00000414874:P935L	ENSP00000262442:P935L	P	+	2	0	DNAH9	11513178	1.000000	0.71417	0.218000	0.23776	0.159000	0.22180	7.475000	0.81041	2.530000	0.85305	0.655000	0.94253	CCG	DNAH9	-	NULL	ENSG00000007174		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	154	0.00	0	C	NM_001372		11572453	11572453	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	90	27.42	34	SNP	0.999	T
EHD2	30846	genome.wustl.edu	37	19	48239666	48239666	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr19:48239666C>T	ENST00000263277.3	+	5	1207	c.956C>T	c.(955-957)cCc>cTc	p.P319L	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.P183L	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	319					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AAGGAGATGCCCTCTGTGTTT	0.517																																						dbGAP											0													147.0	120.0	129.0					19																	48239666		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.956C>T	19.37:g.48239666C>T	ENSP00000263277:p.Pro319Leu		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.P319L	ENST00000263277.3	37	c.956	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470001	0.84533	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399;ENST00000454483;ENST00000540884	D;D	0.97016	-4.21;-4.21	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99007	1.0813	10	0.72032	D	0.01	-33.1529	14.1952	0.65667	0.0:1.0:0.0:0.0	.	319	Q9NZN4	EHD2_HUMAN	L	319;319;309;183;2;2	ENSP00000263277:P319L;ENSP00000439036:P183L	ENSP00000263277:P319L	P	+	2	0	EHD2	52931478	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	5.983000	0.70540	2.117000	0.64856	0.511000	0.50034	CCC	EHD2	-	NULL	ENSG00000024422		0.517	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	85	0.00	0	C			48239666	48239666	+1	no_errors	ENST00000263277	ensembl	human	known	69_37n	missense	130	22.94	39	SNP	1.000	T
ERV3-1	2086	genome.wustl.edu	37	7	64453178	64453178	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr7:64453178C>T	ENST00000394323.2	-	2	727	c.227G>A	c.(226-228)gGc>gAc	p.G76D	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	76						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ataaggctggccccttcctgg	0.473																																						dbGAP											0													85.0	84.0	84.0					7																	64453178		1910	4113	6023	-	-	-	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.227G>A	7.37:g.64453178C>T	ENSP00000391594:p.Gly76Asp			Missense_Mutation	SNP	NULL	p.G76D	ENST00000394323.2	37	c.227	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	9.077	0.998245	0.19043	.	.	ENSG00000213462	ENST00000394323	T	0.24151	1.87	0.109	0.109	0.14578	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.21841	N	0.999513	B	0.20988	0.05	B	0.15052	0.012	T	0.35847	-0.9772	8	0.19590	T	0.45	.	.	.	.	.	76	Q14264	ENR1_HUMAN	D	76	ENSP00000391594:G76D	ENSP00000391594:G76D	G	-	2	0	ERV3-1	64090613	0.828000	0.29307	0.797000	0.32132	0.801000	0.45260	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GGC	ERV3-1	-	NULL	ENSG00000213462		0.473	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	115	0.00	0	C	NM_001007253		64453178	64453178	-1	no_errors	ENST00000394323	ensembl	human	known	69_37n	missense	143	25.77	50	SNP	0.828	T
EYA1	2138	genome.wustl.edu	37	8	72234498	72234498	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr8:72234498C>T	ENST00000340726.3	-	5	847	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	EYA1_ENST00000388743.2_Missense_Mutation_p.G70R|EYA1_ENST00000388740.3_Missense_Mutation_p.G37R|EYA1_ENST00000419131.1_Missense_Mutation_p.G70R|EYA1_ENST00000388741.2_Missense_Mutation_p.G37R|EYA1_ENST00000303824.7_Missense_Mutation_p.G70R|EYA1_ENST00000388742.4_Missense_Mutation_p.G70R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	70					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTACTGCTCCCAATTGCTGGA	0.353																																						dbGAP											0													95.0	97.0	97.0					8																	72234498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.208G>A	8.37:g.72234498C>T	ENSP00000342626:p.Gly70Arg		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.G70R	ENST00000340726.3	37	c.208	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.077056	0.94000	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.975;1.0;0.975	D;P;D;P	0.79108	0.992;0.848;0.992;0.848	T	0.56523	-0.7965	10	0.16896	T	0.51	-11.0975	19.5414	0.95275	0.0:1.0:0.0:0.0	.	70;37;70;70	A6NCB9;Q99502-2;Q99502;G5E9R4	.;.;EYA1_HUMAN;.	R	70;70;38;37;70;37;70;70	ENSP00000373394:G70R;ENSP00000342626:G70R;ENSP00000373392:G37R;ENSP00000303221:G70R;ENSP00000373393:G37R;ENSP00000373395:G70R;ENSP00000410176:G70R	ENSP00000303221:G70R	G	-	1	0	EYA1	72397052	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	5.867000	0.69597	2.692000	0.91855	0.650000	0.86243	GGG	EYA1	-	NULL	ENSG00000104313		0.353	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	199	0.00	0	C	NM_000503, NM_172060		72234498	72234498	-1	no_errors	ENST00000340726	ensembl	human	known	69_37n	missense	260	13.00	39	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8111513	8111514	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr10:8111513_8111514insG	ENST00000346208.3	+	5	1454_1455	c.999_1000insG	c.(1000-1002)gggfs	p.G334fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G335fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	334					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N334fs*19(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGAATGCCAATGGGGACCCTGT	0.569			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1003dupG	10.37:g.8111517_8111517dupG	ENSP00000341619:p.Gly334fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.D335fs	ENST00000346208.3	37	c.1002_1003	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.569	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	81	0.00	0	-	NM_001002295		8111513	8111514	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	162	36.22	92	INS	0.859:1.000	G
L3MBTL1	26013	genome.wustl.edu	37	20	42164575	42164575	+	Splice_Site	SNP	C	C	T	rs566855653		TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr20:42164575C>T	ENST00000427442.2	+	17	2017	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	L3MBTL1_ENST00000373135.3_Splice_Site_p.R552W|L3MBTL1_ENST00000418998.1_Splice_Site_p.R620W|L3MBTL1_ENST00000373134.1_Splice_Site_p.R552C|L3MBTL1_ENST00000444063.1_Splice_Site_p.R552W			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	552					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTTTCACCACCGGTGAGTGAA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18447	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													62.0	62.0	62.0					20																	42164575		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1859+1C>T	20.37:g.42164575C>T			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.R620W	ENST00000427442.2	37	c.1858	CCDS46602.2	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.788141|4.788141	0.90367|0.90367	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000373134|ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000422861;ENST00000373133	T|T;T;T;T;T	0.19938|0.44881	2.11|0.91;0.91;0.91;0.91;0.91	6.03|6.03	5.04|5.04	0.67666|0.67666	.|.	0.212808|0.212808	0.46758|0.46758	D|D	0.000269|0.000269	T|T	0.54271|0.54271	0.1848|0.1848	L|L	0.46157|0.46157	1.445|1.445	0.50632|0.50632	D|D	0.999882|0.999882	D|P;D;D	0.89917|0.89917	1.0|0.653;1.0;1.0	D|B;D;D	0.67231|0.71184	0.95|0.186;0.967;0.972	T|T	0.53114|0.53114	-0.8484|-0.8484	10|10	0.87932|0.66056	D|D	0|0.02	.|.	11.1416|11.1416	0.48406|0.48406	0.2943:0.7057:0.0:0.0|0.2943:0.7057:0.0:0.0	.|.	204|620;552;552	Q9Y468-3|Q9Y468-5;Q9Y468-2;Q9Y468-1	.|.;.;.	C|W	552|620;620;552;552;338;204	ENSP00000362226:R552C|ENSP00000402107:R620W;ENSP00000398516:R620W;ENSP00000362227:R552W;ENSP00000403316:R552W;ENSP00000410139:R338W	ENSP00000362226:R552C|ENSP00000362225:R204W	R|R	+|+	1|1	0|2	L3MBTL1|L3MBTL1	41597989|41597989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.352000|3.352000	0.52239|0.52239	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CGT|CGG	L3MBTL1	-	pfam_Znf_C2HC	ENSG00000185513		0.597	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	57	0.00	0	C	NM_032107	Missense_Mutation	42164575	42164575	+1	no_errors	ENST00000418998	ensembl	human	known	69_37n	missense	89	21.93	25	SNP	1.000	T
LLGL1	3996	genome.wustl.edu	37	17	18145941	18145941	+	Splice_Site	SNP	G	G	C			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr17:18145941G>C	ENST00000316843.4	+	21	3211	c.3115G>C	c.(3115-3117)Ggc>Cgc	p.G1039R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	1039					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGATTTCCTGGGGTGAGGCTG	0.677																																						dbGAP											0													38.0	28.0	31.0					17																	18145941		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.3116+1G>C	17.37:g.18145941G>C			A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat	p.G1039R	ENST00000316843.4	37	c.3115	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882745	0.51908	.	.	ENSG00000131899	ENST00000316843	T	0.04706	3.57	5.14	3.16	0.36331	.	0.470012	0.23799	N	0.044441	T	0.03739	0.0106	N	0.19112	0.55	0.38035	D	0.935276	B	0.29716	0.255	B	0.30782	0.12	T	0.46952	-0.9154	10	0.54805	T	0.06	-28.7535	8.7863	0.34823	0.2274:0.0:0.7726:0.0	.	1039	Q15334	L2GL1_HUMAN	R	1039	ENSP00000321537:G1039R	ENSP00000321537:G1039R	G	+	1	0	LLGL1	18086666	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.982000	0.40638	1.537000	0.49254	0.655000	0.94253	GGC	LLGL1	-	NULL	ENSG00000131899		0.677	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	10	0.00	0	G		Missense_Mutation	18145941	18145941	+1	no_errors	ENST00000316843	ensembl	human	known	69_37n	missense	22	46.34	19	SNP	1.000	C
MORN1	79906	genome.wustl.edu	37	1	2268205	2268205	+	Missense_Mutation	SNP	G	G	A	rs561859972	byFrequency	TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:2268205G>A	ENST00000378531.3	-	11	1294	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	374										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGGCGGGGGCGGCCCCAGGAG	0.672													g|||	4	0.000798722	0.0	0.0	5008	,	,		15282	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													21.0	21.0	21.0					1																	2268205		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1121C>T	1.37:g.2268205G>A	ENSP00000367792:p.Pro374Leu		A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.P374L	ENST00000378531.3	37	c.1121	CCDS40.1	1	.	.	.	.	.	.	.	.	.	.	g	7.830	0.719695	0.15372	.	.	ENSG00000116151	ENST00000378531	T	0.45668	0.89	4.19	4.19	0.49359	.	0.524984	0.16080	N	0.230553	T	0.41003	0.1140	L	0.60455	1.87	0.58432	D	0.999997	D	0.63880	0.993	B	0.42555	0.391	T	0.46721	-0.9171	10	0.59425	D	0.04	.	12.2015	0.54328	0.0:0.0:1.0:0.0	.	374	Q5T089	MORN1_HUMAN	L	374	ENSP00000367792:P374L	ENSP00000367792:P374L	P	-	2	0	MORN1	2258065	0.012000	0.17670	0.595000	0.28798	0.044000	0.14063	0.832000	0.27490	2.316000	0.78162	0.457000	0.33378	CCG	MORN1	-	NULL	ENSG00000116151		0.672	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	9	0.00	0	G	NM_024848		2268205	2268205	-1	no_errors	ENST00000378531	ensembl	human	known	69_37n	missense	9	56.52	13	SNP	0.347	A
MAGI3	260425	genome.wustl.edu	37	1	114184725	114184725	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:114184725C>G	ENST00000307546.9	+	10	1628	c.1553C>G	c.(1552-1554)tCa>tGa	p.S518*	MAGI3_ENST00000369617.4_Nonsense_Mutation_p.S543*|MAGI3_ENST00000369615.1_Nonsense_Mutation_p.S518*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.S518*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	543					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGACAGTCATTAACCAAG	0.448																																						dbGAP											0													170.0	157.0	161.0					1																	114184725		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1553C>G	1.37:g.114184725C>G	ENSP00000304604:p.Ser518*		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.S518*	ENST00000307546.9	37	c.1553	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.422144	0.98275	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.37	5.37	0.77165	.	0.220196	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-4.8057	12.7927	0.57543	0.0:0.9247:0.0:0.0753	.	.	.	.	X	543;518;518;518	.	ENSP00000304604:S518X	S	+	2	0	MAGI3	113986248	0.007000	0.16637	0.928000	0.36995	0.922000	0.55478	1.891000	0.39738	2.684000	0.91462	0.650000	0.86243	TCA	MAGI3	-	NULL	ENSG00000081026		0.448	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	165	0.00	0	C	NM_152900		114184725	114184725	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	nonsense	165	23.96	52	SNP	0.963	G
MSN	4478	genome.wustl.edu	37	X	64955188	64955188	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chrX:64955188G>A	ENST00000360270.5	+	8	1027	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCTTGTGCATGGGGAACCATG	0.542			T	ALK	ALCL																																	dbGAP		Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													67.0	48.0	55.0					X																	64955188		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.855G>A	X.37:g.64955188G>A	ENSP00000353408:p.Met285Ile			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.M285I	ENST00000360270.5	37	c.855	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733554	0.48939	.	.	ENSG00000147065	ENST00000360270	D	0.84873	-1.91	5.45	5.45	0.79879	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.071763	0.85682	D	0.000000	T	0.70587	0.3241	N	0.05306	-0.075	0.80722	D	1	B	0.20671	0.047	B	0.21917	0.037	T	0.67197	-0.5731	10	0.09843	T	0.71	.	16.7763	0.85551	0.0:0.0:1.0:0.0	.	285	P26038	MOES_HUMAN	I	285	ENSP00000353408:M285I	ENSP00000353408:M285I	M	+	3	0	MSN	64871913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.840000	0.86819	2.278000	0.76064	0.594000	0.82650	ATG	MSN	-	pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin,pfscan_FERM_domain	ENSG00000147065		0.542	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	93	0.00	0	G	NM_002444		64955188	64955188	+1	no_errors	ENST00000360270	ensembl	human	known	69_37n	missense	159	31.17	72	SNP	1.000	A
NCAM1	4684	genome.wustl.edu	37	11	113130919	113130919	+	Missense_Mutation	SNP	G	G	A	rs542274622		TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr11:113130919G>A	ENST00000533760.1	+	16	2220	c.1621G>A	c.(1621-1623)Gtc>Atc	p.V541I	NCAM1_ENST00000316851.7_Missense_Mutation_p.V659I|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	669	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGTGACCACGTCATGCTGAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		17306	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													99.0	105.0	103.0					11																	113130919		1930	4134	6064	-	-	-	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1621G>A	11.37:g.113130919G>A	ENSP00000473281:p.Val541Ile		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,prints_Neural_cell_adh,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V659I	ENST00000533760.1	37	c.1975		11	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988435	0.35036	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.60040	0.22	5.53	3.66	0.41972	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.257134	0.31577	U	0.007407	T	0.39436	0.1078	.	.	.	0.58432	D	0.999997	B;B;B;B	0.31077	0.028;0.022;0.016;0.307	B;B;B;B	0.27380	0.05;0.043;0.058;0.079	T	0.17379	-1.0371	9	0.16896	T	0.51	-11.3	11.3719	0.49704	0.1462:0.0:0.8538:0.0	.	541;659;669;694	E9PLH7;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	I	541;659;124	ENSP00000318472:V659I	ENSP00000318472:V659I	V	+	1	0	NCAM1	112636129	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	2.252000	0.43196	1.337000	0.45525	0.561000	0.74099	GTC	NCAM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149294		0.517	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	121	0.00	0	G	NM_000615		113130919	113130919	+1	no_errors	ENST00000316851	ensembl	human	known	69_37n	missense	115	34.29	60	SNP	1.000	A
OSBPL2	9885	genome.wustl.edu	37	20	60859166	60859166	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr20:60859166T>G	ENST00000313733.3	+	10	1139	c.937T>G	c.(937-939)Tcg>Gcg	p.S313A	OSBPL2_ENST00000439951.2_Missense_Mutation_p.S221A|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S301A	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	313					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AGATCCTGTTTCGTATGAATC	0.483																																						dbGAP											0													101.0	93.0	96.0					20																	60859166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.937T>G	20.37:g.60859166T>G	ENSP00000316649:p.Ser313Ala		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	pfam_Oxysterol-bd	p.S313A	ENST00000313733.3	37	c.937	CCDS13495.1	20	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.999030	0.02128	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.32272	1.46;1.46;1.46	5.2	0.0555	0.14315	.	0.384991	0.29073	N	0.013234	T	0.12646	0.0307	N	0.12422	0.21	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.11329	0.006;0.001;0.001;0.001	T	0.29458	-1.0011	10	0.13853	T	0.58	-14.6156	6.0904	0.19991	0.3441:0.0:0.3695:0.2864	.	221;313;301;313	E7ET92;B2RDK3;Q9H1P3-2;Q9H1P3	.;.;.;OSBL2_HUMAN	A	301;313;221	ENSP00000350755:S301A;ENSP00000316649:S313A;ENSP00000397602:S221A	ENSP00000316649:S313A	S	+	1	0	OSBPL2	60292561	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.206000	0.17375	-0.185000	0.10550	0.533000	0.62120	TCG	OSBPL2	-	pfam_Oxysterol-bd	ENSG00000130703		0.483	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1	116	0.00	0	T	NM_014835		60859166	60859166	+1	no_errors	ENST00000313733	ensembl	human	known	69_37n	missense	161	20.69	42	SNP	0.013	G
PDE4B	5142	genome.wustl.edu	37	1	66838015	66838015	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:66838015T>C	ENST00000329654.4	+	17	2052	c.1865T>C	c.(1864-1866)aTt>aCt	p.I622T	PDE4B_ENST00000371045.5_Missense_Mutation_p.I450T|PDE4B_ENST00000480109.2_Missense_Mutation_p.I389T|PDE4B_ENST00000423207.2_Missense_Mutation_p.I607T|PDE4B_ENST00000371049.3_Missense_Mutation_p.I622T	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	622					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	ATCGACTACATTGTCCATCCA	0.423																																						dbGAP											0													143.0	143.0	143.0					1																	66838015		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1865T>C	1.37:g.66838015T>C	ENSP00000332116:p.Ile622Thr		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.I622T	ENST00000329654.4	37	c.1865	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276114	0.59649	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	4.96	4.96	0.65561	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.979;1.0;1.0;1.0;1.0	D	0.93060	0.6473	10	0.87932	D	0	.	14.7354	0.69412	0.0:0.0:0.0:1.0	.	389;607;492;612;622	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	T	622;622;622;607;450;389	ENSP00000332116:I622T;ENSP00000342637:I622T;ENSP00000360088:I622T;ENSP00000392947:I607T;ENSP00000360084:I450T;ENSP00000432592:I389T	ENSP00000332116:I622T	I	+	2	0	PDE4B	66610603	1.000000	0.71417	0.994000	0.49952	0.408000	0.30992	7.776000	0.85560	2.206000	0.71126	0.482000	0.46254	ATT	PDE4B	-	pfam_PDEase_catalytic_dom	ENSG00000184588		0.423	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	31	0.00	0	T	NM_002600		66838015	66838015	+1	no_errors	ENST00000329654	ensembl	human	known	69_37n	missense	55	24.66	18	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	123	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	107	44.27	85	SNP	1.000	G
POM121	9883	genome.wustl.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	-	CTC	rs67569765|rs148686669	byFrequency	TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr7:72413723_72413724insCTC	ENST00000434423.2	+	11	3191_3192	c.3191_3192insCTC	c.(3190-3195)ttcttc>ttCTCcttc	p.1064_1065FF>FSF	POM121_ENST00000358357.3_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000446813.1_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000257622.4_In_Frame_Ins_p.799_800FF>FSF|POM121_ENST00000395270.1_In_Frame_Ins_p.799_800FF>FSF			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1064	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	Exception_encountered	7.37:g.72413723_72413724insCTC	ENSP00000405562:p.Phe1064_Phe1065insSer		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	In_Frame_Ins	INS	NULL	p.1065in_frame_insS	ENST00000434423.2	37	c.3191_3192		7																																																																																			POM121	-	NULL	ENSG00000196313		0.663	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	8	0.00	0	-			72413723	72413724	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	in_frame_ins	24	29.41	10	INS	0.980:0.870	CTC
RANBP3	8498	genome.wustl.edu	37	19	5925701	5925701	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr19:5925701G>C	ENST00000340578.6	-	10	918	c.861C>G	c.(859-861)caC>caG	p.H287Q	RANBP3_ENST00000034275.8_Missense_Mutation_p.H219Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.H282Q|RANBP3_ENST00000541471.1_Missense_Mutation_p.H159Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.H214Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	287					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTGCGCTGGGGTGTCCAGCAT	0.587																																						dbGAP											0													84.0	92.0	89.0					19																	5925701		2124	4221	6345	-	-	-	SO:0001583	missense	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.861C>G	19.37:g.5925701G>C	ENSP00000341483:p.His287Gln		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.H287Q	ENST00000340578.6	37	c.861	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	G	5.018	0.189038	0.09547	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.30981	1.51;1.51;2.27;1.52	5.19	-1.64	0.08318	.	0.442134	0.24620	N	0.036966	T	0.20700	0.0498	L	0.57536	1.79	0.28242	N	0.925643	B;B;B;B;B;B;B	0.15473	0.013;0.008;0.008;0.001;0.003;0.007;0.008	B;B;B;B;B;B;B	0.12156	0.007;0.002;0.002;0.002;0.004;0.004;0.002	T	0.27502	-1.0072	10	0.12430	T	0.62	-9.9132	5.5138	0.16896	0.5511:0.2203:0.2285:0.0	.	159;282;159;214;219;282;287	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	Q	287;282;219;218;159	ENSP00000341483:H287Q;ENSP00000404837:H282Q;ENSP00000034275:H219Q;ENSP00000445071:H159Q	ENSP00000034275:H219Q	H	-	3	2	RANBP3	5876701	0.161000	0.22892	0.976000	0.42696	0.445000	0.32107	-0.913000	0.04042	-0.015000	0.14150	0.561000	0.74099	CAC	RANBP3	-	NULL	ENSG00000031823		0.587	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	39	0.00	0	G	NM_007322		5925701	5925701	-1	no_errors	ENST00000340578	ensembl	human	known	69_37n	missense	99	22.05	28	SNP	0.988	C
RPS6KA5	9252	genome.wustl.edu	37	14	91341643	91341643	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr14:91341643C>T	ENST00000261991.3	-	15	2071	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S554N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	633	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCACCGCGCTGGTACACGT	0.423																																						dbGAP											0													77.0	79.0	78.0					14																	91341643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1898G>A	14.37:g.91341643C>T	ENSP00000261991:p.Ser633Asn		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.S633N	ENST00000261991.3	37	c.1898	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849377	0.51270	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.49720	0.77;0.77	5.43	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041554	0.85682	D	0.000000	T	0.34077	0.0885	N	0.21373	0.66	0.80722	D	1	B	0.21821	0.061	B	0.20767	0.031	T	0.09729	-1.0661	10	0.33141	T	0.24	.	13.9286	0.63978	0.0:0.9266:0.0:0.0734	.	633	O75582	KS6A5_HUMAN	N	633;554	ENSP00000261991:S633N;ENSP00000442803:S554N	ENSP00000261991:S633N	S	-	2	0	RPS6KA5	90411396	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.962000	0.56766	2.696000	0.92011	0.561000	0.74099	AGC	RPS6KA5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000100784		0.423	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	126	0.00	0	C	NM_004755		91341643	91341643	-1	no_errors	ENST00000261991	ensembl	human	known	69_37n	missense	57	27.85	22	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237608817	237608817	+	Silent	SNP	T	T	C			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:237608817T>C	ENST00000366574.2	+	14	1604	c.1287T>C	c.(1285-1287)ttT>ttC	p.F429F	RYR2_ENST00000360064.6_Silent_p.F427F|RYR2_ENST00000542537.1_Silent_p.F413F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	429					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAATAGATTTATAAGGTACT	0.373																																						dbGAP											0													128.0	122.0	124.0					1																	237608817		1845	4088	5933	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1287T>C	1.37:g.237608817T>C			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F427	ENST00000366574.2	37	c.1281	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	409	0.00	0	T	NM_001035		237608817	237608817	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	219	29.78	95	SNP	0.994	C
SCN8A	6334	genome.wustl.edu	37	12	52082854	52082854	+	Intron	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr12:52082854C>T	ENST00000354534.6	+	6	884				SCN8A_ENST00000545061.1_Intron|SCN8A_ENST00000550891.1_Missense_Mutation_p.A227V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GTTCTCCGAGCTTTGAAAACT	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.706+221C>T	12.37:g.52082854C>T			B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,prints_Na_channel_a8su	p.A227V	ENST00000354534.6	37	c.680	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767620	0.90020	.	.	ENSG00000196876	ENST00000550891;ENST00000551216	D;D	0.98362	-4.89;-4.89	4.96	4.96	0.65561	.	.	.	.	.	D	0.98804	0.9597	.	.	.	0.80722	D	1	D;P	0.58970	0.984;0.571	P;P	0.62813	0.907;0.583	D	0.99616	1.0982	8	0.72032	D	0.01	.	18.7751	0.91908	0.0:1.0:0.0:0.0	.	227;227	Q9UQD0-3;F8VRN5	.;.	V	227;25	ENSP00000448415:A227V;ENSP00000447567:A25V	ENSP00000448415:A227V	A	+	2	0	SCN8A	50369121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.763000	0.94921	0.650000	0.86243	GCT	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.443	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	53	0.00	0	C	NM_014191		52082854	52082854	+1	no_errors	ENST00000550891	ensembl	human	novel	69_37n	missense	50	26.47	18	SNP	1.000	T
SCYL3	57147	genome.wustl.edu	37	1	169823868	169823868	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:169823868T>C	ENST00000367770.1	-	12	1759	c.1712A>G	c.(1711-1713)gAt>gGt	p.D571G	SCYL3_ENST00000367771.6_Missense_Mutation_p.D517G|SCYL3_ENST00000367772.4_Missense_Mutation_p.D571G			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	571	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCGCAGTCATCCCAAGATGA	0.473																																						dbGAP											0													108.0	110.0	109.0					1																	169823868		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1712A>G	1.37:g.169823868T>C	ENSP00000356744:p.Asp571Gly		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.D571G	ENST00000367770.1	37	c.1712	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647020	0.47258	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.29142	2.1;1.87;2.1;1.58	5.55	-0.987	0.10249	.	0.231599	0.43260	N	0.000590	T	0.12008	0.0292	M	0.68952	2.095	0.44175	D	0.996982	B;B;B	0.24618	0.037;0.015;0.107	B;B;B	0.25291	0.024;0.023;0.059	T	0.07908	-1.0748	10	0.33940	T	0.23	-1.1237	5.9032	0.18978	0.1179:0.3422:0.0:0.5399	.	163;517;571	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	G	571;517;571;517	ENSP00000356746:D571G;ENSP00000356745:D517G;ENSP00000356744:D571G;ENSP00000407993:D517G	ENSP00000356744:D571G	D	-	2	0	SCYL3	168090492	0.980000	0.34600	0.004000	0.12327	0.247000	0.25773	1.235000	0.32671	-0.450000	0.07107	-0.263000	0.10527	GAT	SCYL3	-	NULL	ENSG00000000457		0.473	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	76	0.00	0	T	NM_181093		169823868	169823868	-1	no_errors	ENST00000367770	ensembl	human	known	69_37n	missense	33	32.00	16	SNP	0.990	C
SH3KBP1	30011	genome.wustl.edu	37	X	19854375	19854375	+	Silent	SNP	G	G	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chrX:19854375G>A	ENST00000397821.3	-	2	320	c.30C>T	c.(28-30)taC>taT	p.Y10Y	SH3KBP1_ENST00000379697.3_Silent_p.Y10Y	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	10	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCTGGGCCTGGTAGTCAAACT	0.527																																						dbGAP											0													155.0	123.0	134.0					X																	19854375		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.30C>T	X.37:g.19854375G>A			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.Y10	ENST00000397821.3	37	c.30	CCDS14193.1	X																																																																																			SH3KBP1	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000147010		0.527	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	145	0.00	0	G	NM_031892		19854375	19854375	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	silent	169	29.75	72	SNP	1.000	A
SMPD2	6610	genome.wustl.edu	37	6	109763931	109763931	+	Intron	SNP	G	G	A	rs117520114	byFrequency	TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr6:109763931G>A	ENST00000258052.3	+	7	850				PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)						apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		AAGAACTCCCGCCTCACCAAC	0.597													G|||	19	0.00379393	0.0	0.0	5008	,	,		19052	0.0188		0.0	False		,,,				2504	0.0					dbGAP											0													81.0	76.0	77.0					6																	109763931		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.492-24G>A	6.37:g.109763931G>A			Q5TED1|Q9BWR3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.R53H	ENST00000258052.3	37	c.158	CCDS5075.1	6	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	0.009	-1.797993	0.00617	.	.	ENSG00000135587	ENST00000458487	.	.	.	5.04	-0.523	0.11924	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35076	-0.9803	4	.	.	.	.	1.4298	0.02331	0.1797:0.1217:0.3969:0.3016	.	.	.	.	H	53	.	.	R	+	2	0	SMPD2	109870624	0.454000	0.25728	0.005000	0.12908	0.002000	0.02628	0.621000	0.24418	-0.031000	0.13781	-0.175000	0.13238	CGC	SMPD2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000135587		0.597	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	64	0.00	0	G			109763931	109763931	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000458487	ensembl	human	putative	69_37n	missense	91	14.95	16	SNP	0.029	A
TCF4	6925	genome.wustl.edu	37	18	52896202	52896202	+	Silent	SNP	G	G	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr18:52896202G>A	ENST00000356073.4	-	18	2354	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	TCF4_ENST00000561992.1_Silent_p.N451N|TCF4_ENST00000568673.1_Silent_p.N561N|TCF4_ENST00000565018.2_Silent_p.N585N|TCF4_ENST00000564228.1_Silent_p.N510N|TCF4_ENST00000566286.1_Silent_p.N578N|TCF4_ENST00000570177.2_Silent_p.N451N|TCF4_ENST00000537856.3_Silent_p.N451N|TCF4_ENST00000564403.2_Silent_p.N591N|TCF4_ENST00000564999.1_Silent_p.N581N|TCF4_ENST00000570287.2_Silent_p.N421N|TCF4_ENST00000544241.2_Silent_p.N514N|TCF4_ENST00000566279.1_Silent_p.N525N|TCF4_ENST00000543082.1_Silent_p.N539N|TCF4_ENST00000567880.1_Silent_p.N521N|TCF4_ENST00000540999.1_Silent_p.N557N|TCF4_ENST00000568740.1_Silent_p.N556N|TCF4_ENST00000537578.1_Silent_p.N561N|TCF4_ENST00000457482.3_Silent_p.N425N|TCF4_ENST00000398339.1_Silent_p.N687N|TCF4_ENST00000561831.3_Silent_p.N421N|TCF4_ENST00000354452.3_Silent_p.N585N	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	581	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TGAAAGCCTCGTTGATGTCAC	0.607																																						dbGAP											0													169.0	146.0	154.0					18																	52896202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1743C>T	18.37:g.52896202G>A			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.N687	ENST00000356073.4	37	c.2061	CCDS11960.1	18																																																																																			TCF4	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000196628		0.607	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	56	0.00	0	G	NM_003199		52896202	52896202	-1	no_errors	ENST00000398339	ensembl	human	known	69_37n	silent	197	16.17	38	SNP	0.998	A
YIF1A	10897	genome.wustl.edu	37	11	66055109	66055109	+	Silent	SNP	G	G	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr11:66055109G>T	ENST00000376901.4	-	4	571	c.387C>A	c.(385-387)ccC>ccA	p.P129P	YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000359461.6_Silent_p.P129P|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	129					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CTTGCCGGGGGGGCAGAGGAG	0.617																																						dbGAP											0													31.0	31.0	31.0					11																	66055109		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.387C>A	11.37:g.66055109G>T			A6NM00|Q96G83|Q9BVD0	Silent	SNP	pfam_Hrf1,pfam_Yip1	p.P129	ENST00000376901.4	37	c.387	CCDS8132.1	11																																																																																			YIF1A	-	pfam_Hrf1	ENSG00000174851		0.617	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3	42	0.00	0	G	NM_020470		66055109	66055109	-1	no_errors	ENST00000376901	ensembl	human	known	69_37n	silent	42	17.65	9	SNP	0.696	T
TRIM64B	642446	genome.wustl.edu	37	11	89604106	89604106	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr11:89604106C>A	ENST00000329862.6	-	6	1032	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	345	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						AGGGTCACATCCACCTCCCAG	0.502																																						dbGAP											0													9.0	14.0	13.0					11																	89604106		679	1569	2248	-	-	-	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.1033G>T	11.37:g.89604106C>A	ENSP00000332969:p.Asp345Tyr			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.D345Y	ENST00000329862.6	37	c.1033	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081767	0.36758	.	.	ENSG00000189253	ENST00000329862	T	0.69306	-0.39	2.09	2.09	0.27110	.	.	.	.	.	T	0.74604	0.3738	M	0.84683	2.71	0.25438	N	0.988127	.	.	.	.	.	.	T	0.65055	-0.6261	6	.	.	.	.	7.6588	0.28392	0.0:1.0:0.0:0.0	.	.	.	.	Y	345	ENSP00000332969:D345Y	.	D	-	1	0	TRIM64B	89243754	0.040000	0.19996	0.410000	0.26471	0.101000	0.19017	0.909000	0.28558	1.163000	0.42636	0.391000	0.25812	GAT	TRIM64B	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000189253		0.502	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	268	0.00	0	C			89604106	89604106	-1	no_errors	ENST00000329862	ensembl	human	known	69_37n	missense	127	12.41	18	SNP	0.884	A
ZBTB40	9923	genome.wustl.edu	37	1	22839582	22839582	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12U-01A-11D-A10Y-09	TCGA-C8-A12U-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	444a1ef9-819a-41dc-baef-22057225efcd	e7b0ba1b-04c8-48f1-ba7d-844ae3f70916	g.chr1:22839582C>T	ENST00000375647.4	+	12	2834	c.2627C>T	c.(2626-2628)gCc>gTc	p.A876V	ZBTB40_ENST00000374651.4_Missense_Mutation_p.A764V|ZBTB40_ENST00000404138.1_Missense_Mutation_p.A876V	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	876					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TTCACCCAGGCCTCCGCCCTG	0.572																																						dbGAP											0													60.0	53.0	55.0					1																	22839582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2627C>T	1.37:g.22839582C>T	ENSP00000364798:p.Ala876Val		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A876V	ENST00000375647.4	37	c.2627	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753256	0.89753	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07688	3.17;3.17;3.17	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000098	T	0.23886	0.0578	L	0.49778	1.585	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.67548	0.952;0.896	T	0.00123	-1.2025	10	0.54805	T	0.06	-14.896	17.7835	0.88531	0.0:1.0:0.0:0.0	.	764;876	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	V	876;876;764	ENSP00000384527:A876V;ENSP00000364798:A876V;ENSP00000363782:A764V	ENSP00000363782:A764V	A	+	2	0	ZBTB40	22712169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.951000	0.70273	2.525000	0.85131	0.591000	0.81541	GCC	ZBTB40	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184677		0.572	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	42	0.00	0	C	NM_014870		22839582	22839582	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	missense	93	23.14	28	SNP	1.000	T
