#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
ABCA10	10349	genome.wustl.edu	37	17	67190077	67190077	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr17:67190077T>C	ENST00000269081.4	-	14	2308	c.1399A>G	c.(1399-1401)Att>Gtt	p.I467V	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	467	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCTTTCTAATTTCTTCCATG	0.313																																						dbGAP											0													82.0	90.0	87.0					17																	67190077		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1399A>G	17.37:g.67190077T>C	ENSP00000269081:p.Ile467Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I467V	ENST00000269081.4	37	c.1399	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674052	0.29693	.	.	ENSG00000154263	ENST00000269081	T	0.38722	1.12	3.71	1.42	0.22433	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.32624	U	0.005851	T	0.24392	0.0591	N	0.11845	0.185	0.23132	N	0.998249	P;P	0.40515	0.719;0.479	B;B	0.42245	0.381;0.268	T	0.10870	-1.0611	10	0.39692	T	0.17	.	7.841	0.29397	0.0:0.179:0.0:0.821	.	467;467	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	V	467	ENSP00000269081:I467V	ENSP00000269081:I467V	I	-	1	0	ABCA10	64701672	0.000000	0.05858	0.000000	0.03702	0.449000	0.32228	-0.440000	0.06888	0.060000	0.16281	0.455000	0.32223	ATT	ABCA10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154263		0.313	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	86	0.00	0	T	NM_080282		67190077	67190077	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	0.048	C
ANKRD30A	91074	genome.wustl.edu	37	10	37419187	37419187	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:37419187G>A	ENST00000602533.1	+	3	322	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D75N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D75N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	131					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTCTGGTGCCGATATAAATCT	0.393																																						dbGAP											0													88.0	78.0	81.0					10																	37419187		1862	4113	5975	-	-	-	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.223G>A	10.37:g.37419187G>A	ENSP00000473551:p.Asp75Asn		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D75N	ENST00000602533.1	37	c.223		10	.	.	.	.	.	.	.	.	.	.	.	12.07	1.828449	0.32329	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.69806	-0.43;-0.43	2.0	0.237	0.15475	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.66548	0.2800	L	0.45137	1.4	0.09310	N	0.999997	D	0.76494	0.999	D	0.77004	0.989	T	0.55835	-0.8078	9	0.10902	T	0.67	.	4.0178	0.09652	0.3827:0.0:0.6173:0.0	.	131	Q9BXX3	AN30A_HUMAN	N	75	ENSP00000354432:D75N;ENSP00000363792:D75N	ENSP00000354432:D75N	D	+	1	0	ANKRD30A	37459193	0.972000	0.33761	0.004000	0.12327	0.005000	0.04900	1.968000	0.40500	-0.115000	0.11915	0.281000	0.19383	GAT	ANKRD30A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148513		0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	89	0.00	0	G	NM_052997		37419187	37419187	+1	no_errors	ENST00000361713	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	0.300	A
AOC3	8639	genome.wustl.edu	37	17	41004614	41004614	+	Silent	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr17:41004614G>A	ENST00000308423.2	+	1	1414	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	418					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCCTTTTGGAGTCCCAGGCCC	0.587																																					NSCLC(3;192 220 10664 11501 16477)	dbGAP											0													81.0	72.0	75.0					17																	41004614		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1254G>A	17.37:g.41004614G>A			B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E418	ENST00000308423.2	37	c.1254	CCDS11444.1	17																																																																																			AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.587	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	47	0.00	0	G	NM_003734		41004614	41004614	+1	no_errors	ENST00000308423	ensembl	human	known	69_37n	silent	23	34.29	12	SNP	0.773	A
CACNA1B	774	genome.wustl.edu	37	9	140943768	140943768	+	Splice_Site	SNP	G	G	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr9:140943768G>C	ENST00000371372.1	+	24	3855		c.e24+1		CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGCTTTCTCGTAAGTAACGT	0.567																																						dbGAP											0													122.0	117.0	119.0					9																	140943768		2068	4210	6278	-	-	-	SO:0001630	splice_region_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3710+1G>C	9.37:g.140943768G>C			B1AQK5	Splice_Site	SNP	-	e24+1	ENST00000371372.1	37	c.3713+1	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745748	0.89663	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1658	0.89724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	140063589	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.711000	0.98735	2.386000	0.81285	0.491000	0.48974	.	CACNA1B	-	-	ENSG00000148408		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	135	0.00	0	G	NM_000718	Intron	140943768	140943768	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	splice_site	23	54.90	28	SNP	1.000	C
CCDC132	55610	genome.wustl.edu	37	7	92926136	92926136	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr7:92926136A>G	ENST00000305866.5	+	15	1378	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G	CCDC132_ENST00000317751.6_Missense_Mutation_p.D148G|CCDC132_ENST00000544910.1_Missense_Mutation_p.D387G|CCDC132_ENST00000541136.1_Missense_Mutation_p.D228G|CCDC132_ENST00000535481.1_Missense_Mutation_p.D137G	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	417						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGTTTTGGATATAATCAGC	0.303																																						dbGAP											0													74.0	72.0	72.0					7																	92926136		1809	4068	5877	-	-	-	SO:0001583	missense	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1250A>G	7.37:g.92926136A>G	ENSP00000307666:p.Asp417Gly		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.D417G	ENST00000305866.5	37	c.1250	CCDS43617.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.12|12.12	1.842101|1.842101	0.32513|0.32513	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.49720|.	0.77|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57242|0.57242	0.2040|0.2040	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;B;D|.	0.63880|.	0.993;0.202;0.993|.	D;B;D|.	0.74674|.	0.984;0.102;0.984|.	T|T	0.54649|0.54649	-0.8262|-0.8262	10|5	0.21540|.	T|.	0.41|.	-8.5069|-8.5069	14.7032|14.7032	0.69168|0.69168	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	137;387;417|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	G|V	417;387;228;137;148|204	ENSP00000325582:D148G|.	ENSP00000307666:D417G|.	D|I	+|+	2|1	0|0	CCDC132|CCDC132	92764072|92764072	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.956000|0.956000	0.61745|0.61745	9.008000|9.008000	0.93601|0.93601	1.951000|1.951000	0.56629|0.56629	0.455000|0.455000	0.32223|0.32223	GAT|ATA	CCDC132	-	NULL	ENSG00000004766		0.303	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	103	0.00	0	A	NM_017667		92926136	92926136	+1	no_errors	ENST00000305866	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	1.000	G
CCR1	1230	genome.wustl.edu	37	3	46245442	46245442	+	Silent	SNP	G	G	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr3:46245442G>T	ENST00000296140.3	-	2	488	c.363C>A	c.(361-363)atC>atA	p.I121I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	121					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGATGAAAAAGATCTCGCTGT	0.502																																						dbGAP											0													103.0	101.0	102.0					3																	46245442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.363C>A	3.37:g.46245442G>T			Q86VA9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt	p.I121	ENST00000296140.3	37	c.363	CCDS2737.1	3																																																																																			CCR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_P2_purnocptor	ENSG00000163823		0.502	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2	61	0.00	0	G	NM_001295		46245442	46245442	-1	no_errors	ENST00000296140	ensembl	human	known	69_37n	silent	20	47.37	18	SNP	1.000	T
CDH15	1013	genome.wustl.edu	37	16	89256775	89256775	+	Missense_Mutation	SNP	A	A	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr16:89256775A>C	ENST00000289746.2	+	8	1168	c.1103A>C	c.(1102-1104)gAc>gCc	p.D368A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	368	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CATGTGCAGGACACCAACGAG	0.667																																						dbGAP											0													42.0	40.0	40.0					16																	89256775		2196	4299	6495	-	-	-	SO:0001583	missense	0			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1103A>C	16.37:g.89256775A>C	ENSP00000289746:p.Asp368Ala			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D368A	ENST00000289746.2	37	c.1103	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931849	0.52866	.	.	ENSG00000129910	ENST00000289746	T	0.75938	-0.98	4.37	4.37	0.52481	Cadherin (3);Cadherin-like (2);	0.114516	0.36740	U	0.002440	D	0.90373	0.6987	H	0.97415	4	0.41778	D	0.989805	D	0.89917	1.0	D	0.87578	0.998	D	0.93198	0.6589	10	0.87932	D	0	.	12.5856	0.56416	1.0:0.0:0.0:0.0	.	368	P55291	CAD15_HUMAN	A	368	ENSP00000289746:D368A	ENSP00000289746:D368A	D	+	2	0	CDH15	87784276	1.000000	0.71417	0.314000	0.25224	0.112000	0.19704	6.844000	0.75390	1.621000	0.50320	0.454000	0.30748	GAC	CDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000129910		0.667	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	21	0.00	0	A	NM_004933		89256775	89256775	+1	no_errors	ENST00000289746	ensembl	human	known	69_37n	missense	8	52.94	9	SNP	0.994	C
C10orf105	414152	genome.wustl.edu	37	10	73494028	73494028	+	Intron	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:73494028G>A	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Missense_Mutation_p.R1384H	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											CTGGTGGACCGTGAGAAGGGC	0.607																																						dbGAP											0													61.0	70.0	67.0					10																	73494028		2150	4232	6382	-	-	-	SO:0001627	intron_variant	0			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+3456C>T	10.37:g.73494028G>A				Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R1382H	ENST00000398786.2	37	c.4145	CCDS44430.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.235319	0.95207	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.28	4.28	0.50868	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81477	-0.0915	9	0.51188	T	0.08	.	17.276	0.87115	0.0:0.0:1.0:0.0	.	200;1379	E7ERT0;Q9H251	.;CAD23_HUMAN	H	1384;1379;1382;200	.	ENSP00000224721:R1384H	R	+	2	0	CDH23	73164034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.559000	0.98135	2.381000	0.81170	0.655000	0.94253	CGT	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.607	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	49	0.00	0	G	NM_001164375		73494028	73494028	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	1.000	A
CES5A	221223	genome.wustl.edu	37	16	55909072	55909072	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr16:55909072G>A	ENST00000290567.9	-	1	183	c.62C>T	c.(61-63)gCc>gTc	p.A21V	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Missense_Mutation_p.A21V|CES5A_ENST00000518005.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.A21V|CES5A_ENST00000521992.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	21						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTGGTGGGGGCTGCAAGGAC	0.527																																						dbGAP											0													123.0	123.0	123.0					16																	55909072		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.62C>T	16.37:g.55909072G>A	ENSP00000290567:p.Ala21Val		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.A21V	ENST00000290567.9	37	c.62	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	G	8.865	0.947843	0.18356	.	.	ENSG00000159398	ENST00000319165;ENST00000290567;ENST00000520435	T;T;T	0.66815	-0.23;-0.23;-0.23	4.31	1.3	0.21679	.	0.270214	0.26840	N	0.022226	T	0.45196	0.1330	N	0.25957	0.775	0.27885	N	0.939532	B;B	0.31769	0.339;0.291	B;B	0.33690	0.168;0.072	T	0.24012	-1.0172	10	0.17369	T	0.5	.	4.5368	0.12038	0.1994:0.1837:0.6168:0.0	.	21;21	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	V	21	ENSP00000324271:A21V;ENSP00000290567:A21V;ENSP00000428887:A21V	ENSP00000290567:A21V	A	-	2	0	CES5A	54466573	0.521000	0.26258	0.447000	0.26932	0.002000	0.02628	0.601000	0.24119	0.358000	0.24211	-0.746000	0.03513	GCC	CES5A	-	NULL	ENSG00000159398		0.527	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	72	0.00	0	G	NM_145024		55909072	55909072	-1	no_errors	ENST00000290567	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	0.451	A
CLCA1	1179	genome.wustl.edu	37	1	86959277	86959277	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr1:86959277G>T	ENST00000234701.3	+	11	2026	c.1675G>T	c.(1675-1677)Gct>Tct	p.A559S	CLCA1_ENST00000394711.1_Missense_Mutation_p.A559S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	559					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CCCAGGCATTGCTAAGGTATG	0.398																																						dbGAP											0													85.0	76.0	79.0					1																	86959277		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1675G>T	1.37:g.86959277G>T	ENSP00000234701:p.Ala559Ser		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.A559S	ENST00000234701.3	37	c.1675	CCDS709.1	1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706608	0.68615	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.37411	1.2;1.2	5.7	5.7	0.88788	Domain of unknown function DUF1973 (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.85373	2.75	0.43598	D	0.995957	D;D	0.67145	0.996;0.996	D;D	0.71656	0.974;0.974	T	0.65792	-0.6082	10	0.87932	D	0	-18.6859	18.6064	0.91268	0.0:0.0:1.0:0.0	.	559;322	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	S	559;559;272	ENSP00000234701:A559S;ENSP00000378200:A559S	ENSP00000234701:A559S	A	+	1	0	CLCA1	86731865	1.000000	0.71417	0.948000	0.38648	0.322000	0.28314	6.581000	0.74045	2.691000	0.91804	0.557000	0.71058	GCT	CLCA1	-	pfam_DUF1973,tigrfam_CaCC_prot	ENSG00000016490		0.398	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	52	0.00	0	G	NM_001285		86959277	86959277	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	missense	36	25.00	12	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31576559	31576559	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr12:31576559C>G	ENST00000389082.5	-	11	2706	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	DENND5B_ENST00000536562.1_Missense_Mutation_p.E849D|DENND5B_ENST00000306833.6_Missense_Mutation_p.E849D	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	814	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCTCTTGTTTCTCTTCTCTGT	0.378																																						dbGAP											0													240.0	231.0	234.0					12																	31576559		1905	4127	6032	-	-	-	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2442G>C	12.37:g.31576559C>G	ENSP00000373734:p.Glu814Asp		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E849D	ENST00000389082.5	37	c.2547	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156988	0.57259	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.04360	3.64;3.74;3.74	4.99	4.1	0.47936	RUN (2);	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	L	0.39245	1.2	0.58432	D	0.999999	P;B	0.41188	0.741;0.128	B;B	0.42462	0.388;0.098	T	0.44019	-0.9355	10	0.39692	T	0.17	-41.2318	9.6928	0.40139	0.0:0.8314:0.0:0.1686	.	814;849	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	D	814;849;849	ENSP00000373734:E814D;ENSP00000306482:E849D;ENSP00000444889:E849D	ENSP00000306482:E849D	E	-	3	2	DENND5B	31467826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.456000	0.53000	1.463000	0.47967	0.655000	0.94253	GAG	DENND5B	-	pfam_Run,pfscan_Run	ENSG00000170456		0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	145	0.00	0	C	NM_144973		31576559	31576559	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	missense	59	26.25	21	SNP	1.000	G
DGKD	8527	genome.wustl.edu	37	2	234378033	234378033	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr2:234378033A>T	ENST00000264057.2	+	30	3584	c.3572A>T	c.(3571-3573)aAg>aTg	p.K1191M	DGKD_ENST00000409813.3_Missense_Mutation_p.K1147M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1191	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGCGTGACCAAGGTGGGCCAC	0.657																																						dbGAP											0													40.0	38.0	39.0					2																	234378033		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3572A>T	2.37:g.234378033A>T	ENSP00000264057:p.Lys1191Met		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K1191M	ENST00000264057.2	37	c.3572	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447818	0.84101	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.86097	-2.07;-2.07	4.42	4.42	0.53409	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	M	0.90145	3.09	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94581	0.7779	10	0.87932	D	0	.	14.1164	0.65156	1.0:0.0:0.0:0.0	.	1147;1191	Q16760-2;Q16760	.;DGKD_HUMAN	M	1191;1147	ENSP00000264057:K1191M;ENSP00000386455:K1147M	ENSP00000264057:K1191M	K	+	2	0	DGKD	234042772	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.849000	0.92178	1.967000	0.57214	0.459000	0.35465	AAG	DGKD	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000077044		0.657	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	39	0.00	0	A	NM_003648		234378033	234378033	+1	no_errors	ENST00000264057	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51773279	51773279	+	Silent	SNP	T	T	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr15:51773279T>C	ENST00000251076.5	-	24	6311	c.6024A>G	c.(6022-6024)aaA>aaG	p.K2008K	DMXL2_ENST00000543779.2_Silent_p.K2008K|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.K1372K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2008						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GATCTGATTGTTTATCTTTTT	0.423																																						dbGAP											0													187.0	185.0	186.0					15																	51773279		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6024A>G	15.37:g.51773279T>C			B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N133S	ENST00000251076.5	37	c.398	CCDS10141.1	15																																																																																			DMXL2	-	NULL	ENSG00000104093		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	69	0.00	0	T	NM_015263		51773279	51773279	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000560891	ensembl	human	novel	69_37n	missense	25	59.68	37	SNP	0.000	C
DYNC2H1	79659	genome.wustl.edu	37	11	103114423	103114423	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr11:103114423G>A	ENST00000375735.2	+	64	9965	c.9821G>A	c.(9820-9822)aGt>aAt	p.S3274N	DYNC2H1_ENST00000398093.3_Splice_Site_p.S3281N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3274	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTATACTAGAGTCGAGTGTGC	0.289																																						dbGAP											0													79.0	66.0	70.0					11																	103114423		1795	4067	5862	-	-	-	SO:0001630	splice_region_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9820-1G>A	11.37:g.103114423G>A			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3281N	ENST00000375735.2	37	c.9842	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520667	0.85495	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62364	0.67;0.03	5.66	5.66	0.87406	.	0.664027	0.14930	N	0.290139	T	0.78375	0.4273	M	0.85945	2.785	0.80722	D	1	P;P	0.43857	0.726;0.819	P;P	0.51297	0.665;0.614	T	0.77757	-0.2468	10	0.44086	T	0.13	.	19.7452	0.96250	0.0:0.0:1.0:0.0	.	3274;3281	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	3274;3281	ENSP00000364887:S3274N;ENSP00000381167:S3281N	ENSP00000364887:S3274N	S	+	2	0	DYNC2H1	102619633	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.444000	0.97578	2.672000	0.90937	0.591000	0.81541	AGT	DYNC2H1	-	NULL	ENSG00000187240		0.289	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	113	0.00	0	G	XM_370652	Missense_Mutation	103114423	103114423	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	1.000	A
NUTM2B	729262	genome.wustl.edu	37	10	81471479	81471479	+	Silent	SNP	C	C	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:81471479C>A	ENST00000429828.1	+	7	2258	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	NUTM2B_ENST00000448135.1_Intron|RP11-119F19.2_ENST00000601369.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000372321.1_Intron|RP11-119F19.2_ENST00000596088.1_RNA	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	625																	GCCTCCCACCCTTGAAGGAGA	0.617																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.1875C>A	10.37:g.81471479C>A			A6NM73	Silent	SNP	NULL	p.P625	ENST00000429828.1	37	c.1875		10																																																																																			FAM22B	-	NULL	ENSG00000188199		0.617	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	FAM22B	HGNC	protein_coding		49	0.00	0	C	NG_012780		81471479	81471479	+1	no_errors	ENST00000429828	ensembl	human	known	69_37n	silent	50	10.71	6	SNP	0.022	A
SPATA31A1	647060	genome.wustl.edu	37	9	39361134	39361134	+	Missense_Mutation	SNP	G	G	T	rs200083894		TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr9:39361134G>T	ENST00000377647.3	+	4	3401	c.3372G>T	c.(3370-3372)agG>agT	p.R1124S		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1124					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGAAGAAAGGCTTGAAGGAT	0.468																																						dbGAP											0													3.0	2.0	2.0					9																	39361134		705	1499	2204	-	-	-	SO:0001583	missense	0				CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 36"", ""family with sequence similarity 75, member A1"""	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3372G>T	9.37:g.39361134G>T	ENSP00000366875:p.Arg1124Ser			Missense_Mutation	SNP	NULL	p.R1124S	ENST00000377647.3	37	c.3372	CCDS43808.1	9	.	.	.	.	.	.	.	.	.	.	G	1.672	-0.508645	0.04231	.	.	ENSG00000204849	ENST00000377647	T	0.04862	3.54	1.95	-3.42	0.04825	.	2.856530	0.01120	N	0.005778	T	0.04952	0.0133	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.35943	-0.9768	10	0.11485	T	0.65	.	3.7386	0.08521	0.3001:0.409:0.291:0.0	.	1124	Q5TZJ5	F75A1_HUMAN	S	1124	ENSP00000366875:R1124S	ENSP00000366875:R1124S	R	+	3	2	FAM75A1	39351134	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	-0.381000	0.07417	-0.910000	0.03847	0.134000	0.15878	AGG	FAM75A1	-	NULL	ENSG00000204849		0.468	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A1	HGNC	protein_coding	OTTHUMT00000036910.1	27	0.00	0	G	NM_001085452		39361134	39361134	+1	no_errors	ENST00000377647	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	0.000	T
FYB	2533	genome.wustl.edu	37	5	39127855	39127855	+	Missense_Mutation	SNP	T	T	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr5:39127855T>A	ENST00000351578.6	-	11	2085	c.1895A>T	c.(1894-1896)gAt>gTt	p.D632V	FYB_ENST00000515010.1_Missense_Mutation_p.D632V|FYB_ENST00000512982.1_Missense_Mutation_p.D632V|FYB_ENST00000505428.1_Missense_Mutation_p.D632V|FYB_ENST00000540520.1_Missense_Mutation_p.D642V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	632					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCATCAGCATCTTCCTCTTC	0.318																																						dbGAP											0													117.0	108.0	111.0					5																	39127855		1839	4088	5927	-	-	-	SO:0001583	missense	0			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1895A>T	5.37:g.39127855T>A	ENSP00000316460:p.Asp632Val		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.D642V	ENST00000351578.6	37	c.1925	CCDS47200.1	5	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246998	0.39697	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.33865	1.7;1.7;1.39;1.39;1.39	5.38	4.21	0.49690	.	0.531595	0.20052	N	0.100264	T	0.49575	0.1565	M	0.73962	2.25	0.58432	D	0.999997	D;P	0.60160	0.987;0.856	P;P	0.53450	0.726;0.526	T	0.52571	-0.8558	10	0.87932	D	0	-4.0776	9.958	0.41680	0.0:0.0774:0.0:0.9226	.	642;632	B4DLN2;O15117	.;FYB_HUMAN	V	632;632;632;632;642;632	ENSP00000316460:D632V;ENSP00000426346:D632V;ENSP00000425845:D632V;ENSP00000427114:D632V;ENSP00000442840:D642V	ENSP00000316460:D632V	D	-	2	0	FYB	39163612	0.990000	0.36364	0.765000	0.31456	0.996000	0.88848	3.532000	0.53553	0.978000	0.38470	0.477000	0.44152	GAT	FYB	-	NULL	ENSG00000082074		0.318	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	136	0.00	0	T	NM_001465		39127855	39127855	-1	no_errors	ENST00000540520	ensembl	human	known	69_37n	missense	69	28.87	28	SNP	0.935	A
GBF1	8729	genome.wustl.edu	37	10	104130498	104130498	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:104130498G>C	ENST00000369983.3	+	29	3798	c.3538G>C	c.(3538-3540)Gac>Cac	p.D1180H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1180					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GACTGTTCGAGACCATCTATA	0.562																																						dbGAP											0													236.0	189.0	205.0					10																	104130498		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3538G>C	10.37:g.104130498G>C	ENSP00000359000:p.Asp1180His		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.D1180H	ENST00000369983.3	37	c.3538	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463447	0.84425	.	.	ENSG00000107862	ENST00000369983	T	0.11169	2.8	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	M	0.62723	1.935	0.80722	D	1	P;D;D	0.76494	0.89;0.961;0.999	P;P;D	0.81914	0.496;0.53;0.995	T	0.00433	-1.1742	10	0.49607	T	0.09	-20.2649	19.277	0.94036	0.0:0.0:1.0:0.0	.	1180;1180;1180	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1180	ENSP00000359000:D1180H	ENSP00000359000:D1180H	D	+	1	0	GBF1	104120488	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.612000	0.98347	2.782000	0.95742	0.655000	0.94253	GAC	GBF1	-	NULL	ENSG00000107862		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	93	0.00	0	G			104130498	104130498	+1	no_errors	ENST00000369983	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	C
HCFC1	3054	genome.wustl.edu	37	X	153224852	153224852	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chrX:153224852G>A	ENST00000310441.7	-	9	2501	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A512V|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.A443V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	512	Required for interaction with OGT.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGACAGGGGCTTTCCCAGC	0.617																																						dbGAP											0													91.0	98.0	96.0					X																	153224852		2142	4204	6346	-	-	-	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1535C>T	X.37:g.153224852G>A	ENSP00000309555:p.Ala512Val		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.A512V	ENST00000310441.7	37	c.1535	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578799	0.86645	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03181	4.02;4.02;4.02	5.55	4.69	0.59074	Fibronectin, type III (1);	0.104364	0.64402	N	0.000003	T	0.05044	0.0135	L	0.36672	1.1	0.37303	D	0.908775	P	0.51791	0.948	P	0.46975	0.533	T	0.47289	-0.9129	10	0.49607	T	0.09	.	8.4923	0.33108	0.0872:0.152:0.7608:0.0	.	512	P51610	HCFC1_HUMAN	V	512;512;443	ENSP00000309555:A512V;ENSP00000359001:A512V;ENSP00000346174:A443V	ENSP00000309555:A512V	A	-	2	0	HCFC1	152878046	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	6.685000	0.74543	1.104000	0.41587	0.544000	0.68410	GCC	HCFC1	-	smart_Fibronectin_type3	ENSG00000172534		0.617	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	65	0.00	0	G	NM_005334		153224852	153224852	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	missense	36	11.90	5	SNP	0.997	A
IL37	27178	genome.wustl.edu	37	2	113676172	113676172	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr2:113676172A>G	ENST00000263326.3	+	5	485	c.443A>G	c.(442-444)gAa>gGa	p.E148G	IL37_ENST00000353225.3_Missense_Mutation_p.E108G|IL37_ENST00000311328.2_Missense_Mutation_p.E122G|IL37_ENST00000349806.3_Missense_Mutation_p.E87G|IL37_ENST00000352179.3_Missense_Mutation_p.E127G	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	148					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)	p.E148G(1)|p.E122G(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GCCCAAAAGGAATCAGCACGC	0.532																																						dbGAP											2	Substitution - Missense(2)	lung(2)											48.0	53.0	51.0					2																	113676172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.443A>G	2.37:g.113676172A>G	ENSP00000263326:p.Glu148Gly		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	p.E148G	ENST00000263326.3	37	c.443	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	a	13.65	2.301581	0.40694	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	3.49	2.28	0.28536	.	1.468830	0.04657	N	0.408248	T	0.33118	0.0852	M	0.80183	2.485	0.09310	N	1	P;P;P;P;P	0.45474	0.813;0.774;0.859;0.597;0.649	B;B;B;B;B	0.44224	0.444;0.365;0.281;0.173;0.266	T	0.24190	-1.0167	10	0.72032	D	0.01	-5.4701	6.7657	0.23566	0.7587:0.2413:0.0:0.0	.	122;87;108;127;148	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	G	148;127;87;108;122	ENSP00000263326:E148G;ENSP00000263327:E127G;ENSP00000263328:E87G;ENSP00000309208:E108G;ENSP00000309883:E122G	ENSP00000263326:E148G	E	+	2	0	IL37	113392643	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.001000	0.12947	0.497000	0.27926	0.454000	0.30748	GAA	IL37	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1	ENSG00000125571		0.532	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	52	0.00	0	A	NM_014439		113676172	113676172	+1	no_errors	ENST00000263326	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	0.004	G
JAK3	3718	genome.wustl.edu	37	19	17948829	17948829	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr19:17948829C>T	ENST00000527670.1	-	11	1642	c.1613G>A	c.(1612-1614)gGc>gAc	p.G538D	JAK3_ENST00000458235.1_Missense_Mutation_p.G538D|JAK3_ENST00000534444.1_Missense_Mutation_p.G538D|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	538	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ATGGCGACAGCCCCGGTAAAT	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													124.0	120.0	122.0					19																	17948829		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1613G>A	19.37:g.17948829C>T	ENSP00000432511:p.Gly538Asp		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom	p.G538D	ENST00000527670.1	37	c.1613	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216655	0.79352	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	D;D;D	0.86956	-2.19;-2.19;-2.19	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.974	D	0.97238	0.9889	10	0.87932	D	0	-23.9385	15.6203	0.76802	0.0:1.0:0.0:0.0	.	538;538	P52333-2;P52333	.;JAK3_HUMAN	D	538	ENSP00000391676:G538D;ENSP00000432511:G538D;ENSP00000436421:G538D	ENSP00000413248:G538D	G	-	2	0	JAK3	17809829	1.000000	0.71417	0.912000	0.35992	0.646000	0.38490	7.099000	0.76981	2.284000	0.76573	0.313000	0.20887	GGC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom	ENSG00000105639		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	75	0.00	0	C	NM_000215		17948829	17948829	-1	no_errors	ENST00000458235	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.998	T
KIAA1804	84451	genome.wustl.edu	37	1	233518092	233518092	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr1:233518092C>T	ENST00000366624.3	+	10	3007	c.2746C>T	c.(2746-2748)Cca>Tca	p.P916S	MLK4_ENST00000366622.1_Missense_Mutation_p.P362S	NM_032435.2	NP_115811.2																					CTCTGCACTGCCACTCTGCCC	0.522																																						dbGAP											0													75.0	71.0	72.0					1																	233518092		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000366624.3:c.2746C>T	1.37:g.233518092C>T	ENSP00000355583:p.Pro916Ser			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.P916S	ENST00000366624.3	37	c.2746	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606631	0.46527	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.79454	-1.27;2.58	4.63	4.63	0.57726	.	0.095568	0.40064	N	0.001186	T	0.77980	0.4212	N	0.22421	0.69	0.37794	D	0.927467	D;D	0.76494	0.999;0.994	D;P	0.71656	0.974;0.755	T	0.77887	-0.2420	10	0.32370	T	0.25	.	11.894	0.52646	0.1738:0.8262:0.0:0.0	.	363;916	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	S	916;362	ENSP00000355583:P916S;ENSP00000355581:P362S	ENSP00000355581:P362S	P	+	1	0	RP5-862P8.2	231584715	0.535000	0.26370	0.090000	0.20809	0.426000	0.31534	1.952000	0.40343	2.398000	0.81561	0.455000	0.32223	CCA	RP5-862P8.2	-	pirsf_MAPKKK9/10/11	ENSG00000143674		0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Clone_based_vega_gene	protein_coding	OTTHUMT00000092495.1	50	0.00	0	C			233518092	233518092	+1	no_errors	ENST00000366624	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.851	T
KRTAP4-9	100132386	genome.wustl.edu	37	17	39262243	39262243	+	Silent	SNP	C	C	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr17:39262243C>A	ENST00000391415.1	+	1	660	c.603C>A	c.(601-603)cgC>cgA	p.R201R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	201					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGCCCCCGCCCCTTGTGCT	0.637																																						dbGAP											0													49.0	61.0	57.0					17																	39262243		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.603C>A	17.37:g.39262243C>A				Silent	SNP	pfam_Keratin-assoc	p.R201	ENST00000391415.1	37	c.603	CCDS54124.1	17																																																																																			KRTAP4-9	-	NULL	ENSG00000212722		0.637	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	130	0.00	0	C	NM_001146041		39262243	39262243	+1	no_errors	ENST00000391415	ensembl	human	known	69_37n	silent	38	33.33	19	SNP	0.394	A
LIX1	167410	genome.wustl.edu	37	5	96430625	96430625	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr5:96430625G>C	ENST00000274382.4	-	6	971	c.676C>G	c.(676-678)Cga>Gga	p.R226G	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	226										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		AGGGCCATTCGTAGCTCTTGA	0.473																																						dbGAP											0													106.0	110.0	109.0					5																	96430625		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.676C>G	5.37:g.96430625G>C	ENSP00000274382:p.Arg226Gly		A8K4R9|Q8N7I2	Missense_Mutation	SNP	NULL	p.R226G	ENST00000274382.4	37	c.676	CCDS4088.1	5	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387023	0.42308	.	.	ENSG00000145721	ENST00000274382	T	0.44083	0.93	5.82	4.95	0.65309	.	0.053894	0.85682	D	0.000000	T	0.25457	0.0619	N	0.08118	0	0.37541	D	0.918316	B	0.22146	0.065	B	0.25759	0.063	T	0.12426	-1.0548	10	0.25751	T	0.34	-10.7444	14.4316	0.67254	0.0713:0.0:0.9287:0.0	.	226	Q8N485	LIX1_HUMAN	G	226	ENSP00000274382:R226G	ENSP00000274382:R226G	R	-	1	2	LIX1	96456381	1.000000	0.71417	0.831000	0.32960	0.990000	0.78478	5.615000	0.67702	1.454000	0.47793	0.655000	0.94253	CGA	LIX1	-	NULL	ENSG00000145721		0.473	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1	72	0.00	0	G	NM_153234		96430625	96430625	-1	no_errors	ENST00000274382	ensembl	human	known	69_37n	missense	16	51.52	17	SNP	0.989	C
MPP7	143098	genome.wustl.edu	37	10	28378743	28378743	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:28378743C>G	ENST00000375732.1	-	12	1239	c.980G>C	c.(979-981)aGt>aCt	p.S327T	MPP7_ENST00000445954.2_Missense_Mutation_p.S202T|MPP7_ENST00000540098.1_Missense_Mutation_p.S327T|MPP7_ENST00000337532.5_Missense_Mutation_p.S327T|MPP7_ENST00000375719.3_Missense_Mutation_p.S327T			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	327					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATCTTTTCTACTAAGACGAAA	0.318																																						dbGAP											0													148.0	125.0	133.0					10																	28378743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.980G>C	10.37:g.28378743C>G	ENSP00000364884:p.Ser327Thr		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S327T	ENST00000375732.1	37	c.980	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075391	0.76415	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	D;D;D;D;T;D	0.82711	-1.64;-1.64;-1.64;-1.64;1.51;-1.64	5.79	5.79	0.91817	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	M	0.63428	1.95	0.80722	D	1	P	0.42827	0.791	P	0.45071	0.468	T	0.79497	-0.1779	10	0.10111	T	0.7	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	327	Q5T2T1	MPP7_HUMAN	T	327;327;327;327;88;202	ENSP00000364884:S327T;ENSP00000337907:S327T;ENSP00000438693:S327T;ENSP00000364871:S327T;ENSP00000398319:S88T;ENSP00000405397:S202T	ENSP00000337907:S327T	S	-	2	0	MPP7	28418749	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.481000	0.81124	2.726000	0.93360	0.655000	0.94253	AGT	MPP7	-	superfamily_SH3_domain	ENSG00000150054		0.318	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	121	0.00	0	C	NM_173496		28378743	28378743	-1	no_errors	ENST00000337532	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	1.000	G
MSL2	55167	genome.wustl.edu	37	3	135870742	135870742	+	Silent	SNP	T	T	A	rs202185460		TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr3:135870742T>A	ENST00000309993.2	-	2	1713	c.981A>T	c.(979-981)tcA>tcT	p.S327S	MSL2_ENST00000434835.2_Silent_p.S253S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	327					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTGCTGTACATGATAACCCAT	0.423																																						dbGAP											0													113.0	110.0	111.0					3																	135870742		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.981A>T	3.37:g.135870742T>A			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	pfscan_Znf_RING	p.S327	ENST00000309993.2	37	c.981	CCDS33861.1	3																																																																																			MSL2	-	NULL	ENSG00000174579		0.423	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	63	0.00	0	T	NM_018133		135870742	135870742	-1	no_errors	ENST00000309993	ensembl	human	known	69_37n	silent	17	58.54	24	SNP	1.000	A
NMT2	9397	genome.wustl.edu	37	10	15161504	15161504	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:15161504C>G	ENST00000378165.4	-	9	1088	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	NMT2_ENST00000378150.1_Missense_Mutation_p.K323N|NMT2_ENST00000540259.1_Missense_Mutation_p.K148N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.K323N	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	336					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AACCTGAAGTCTTTGTAACCT	0.428																																					Melanoma(117;1345 1645 4130 12688 30625)	dbGAP											0													127.0	120.0	123.0					10																	15161504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1008G>C	10.37:g.15161504C>G	ENSP00000367407:p.Lys336Asn		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.K367N	ENST00000378165.4	37	c.1101	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796713	0.50208	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.47177	0.85	5.69	4.74	0.60224	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.048867	0.85682	D	0.000000	T	0.59101	0.2169	L	0.61387	1.9	0.58432	D	0.999998	P;D;P	0.53619	0.881;0.961;0.881	P;P;P	0.58873	0.733;0.847;0.733	T	0.58691	-0.7592	9	.	.	.	-27.2807	10.8102	0.46543	0.0:0.8397:0.0:0.1603	.	336;323;336	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	N	336;323;367;148;323	ENSP00000367407:K336N	.	K	-	3	2	NMT2	15201510	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.415000	0.44635	1.294000	0.44707	0.655000	0.94253	AAG	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.428	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	74	0.00	0	C	NM_004808		15161504	15161504	-1	no_errors	ENST00000378143	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	1.000	G
NOX3	50508	genome.wustl.edu	37	6	155761166	155761166	+	Missense_Mutation	SNP	C	C	A	rs117412760	byFrequency	TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr6:155761166C>A	ENST00000159060.2	-	6	694	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	198	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCATAGGAGGCCTGTCTGATG	0.502																																						dbGAP											0													153.0	139.0	144.0					6																	155761166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.592G>T	6.37:g.155761166C>A	ENSP00000159060:p.Ala198Ser		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.A198S	ENST00000159060.2	37	c.592	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006426	0.07773	.	.	ENSG00000074771	ENST00000159060	D	0.91521	-2.86	5.83	1.66	0.24008	Flavoprotein transmembrane component (1);	1.362240	0.04592	N	0.396942	T	0.51787	0.1695	N	0.03177	-0.4	0.21256	N	0.999744	B	0.06786	0.001	B	0.06405	0.002	T	0.60219	-0.7306	10	0.02654	T	1	-0.4142	4.8704	0.13629	0.4749:0.2626:0.0:0.2625	.	198	Q9HBY0	NOX3_HUMAN	S	198	ENSP00000159060:A198S	ENSP00000159060:A198S	A	-	1	0	NOX3	155802858	0.001000	0.12720	0.170000	0.22879	0.909000	0.53808	0.622000	0.24433	0.242000	0.21303	0.650000	0.86243	GCC	NOX3	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain	ENSG00000074771		0.502	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	66	0.00	0	C			155761166	155761166	-1	no_errors	ENST00000159060	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.937	A
OSCAR	126014	genome.wustl.edu	37	19	54600388	54600388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr19:54600388delG	ENST00000284648.6	-	4	331	c.134delC	c.(133-135)cctfs	p.P45fs	OSCAR_ENST00000391761.1_Frame_Shift_Del_p.P34fs|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.P49fs|OSCAR_ENST00000359649.4_Frame_Shift_Del_p.P49fs|OSCAR_ENST00000358375.4_Frame_Shift_Del_p.P45fs|OSCAR_ENST00000351806.4_Frame_Shift_Del_p.P34fs			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	45	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GTTGACCCCAGGGGTCACAAC	0.607																																						dbGAP											0													63.0	67.0	65.0					19																	54600388		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.134delC	19.37:g.54600388delG	ENSP00000365808:p.Pro45fs		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Frame_Shift_Del	DEL	smart_Ig_sub	p.P49fs	ENST00000284648.6	37	c.146		19																																																																																			OSCAR	-	smart_Ig_sub	ENSG00000170909		0.607	OSCAR-001	NOVEL	basic	protein_coding	OSCAR	HGNC	protein_coding	OTTHUMT00000139493.4	33	0.00	0	G	NM_133169		54600388	54600388	-1	no_errors	ENST00000356532	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	0.998	-
PDILT	204474	genome.wustl.edu	37	16	20373852	20373852	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr16:20373852C>G	ENST00000302451.4	-	10	1538	c.1290G>C	c.(1288-1290)ttG>ttC	p.L430F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	430	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATTTTCTGCCCAATTCCTCCA	0.458																																						dbGAP											0													261.0	193.0	216.0					16																	20373852		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1290G>C	16.37:g.20373852C>G	ENSP00000305465:p.Leu430Phe		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L430F	ENST00000302451.4	37	c.1290	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	C	9.170	1.020967	0.19433	.	.	ENSG00000169340	ENST00000302451	T	0.04406	3.63	5.0	-0.735	0.11137	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000001	T	0.17365	0.0417	M	0.86268	2.805	0.34530	D	0.709138	D	0.89917	1.0	D	0.97110	1.0	T	0.07195	-1.0785	10	0.87932	D	0	.	5.9659	0.19325	0.0:0.4772:0.1315:0.3913	.	430	Q8N807	PDILT_HUMAN	F	430	ENSP00000305465:L430F	ENSP00000305465:L430F	L	-	3	2	PDILT	20281353	0.997000	0.39634	0.076000	0.20297	0.000000	0.00434	0.401000	0.20948	-0.165000	0.10908	-2.010000	0.00438	TTG	PDILT	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000169340		0.458	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	141	0.00	0	C	NM_174924		20373852	20373852	-1	no_errors	ENST00000302451	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.438	G
PIK3R4	30849	genome.wustl.edu	37	3	130447357	130447357	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr3:130447357T>C	ENST00000356763.3	-	6	2314	c.1757A>G	c.(1756-1758)aAt>aGt	p.N586S		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	586					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						ATTCTTATCATTTAGGAAAGT	0.338																																						dbGAP											0													93.0	93.0	93.0					3																	130447357		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1757A>G	3.37:g.130447357T>C	ENSP00000349205:p.Asn586Ser		Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N586S	ENST00000356763.3	37	c.1757	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438235	0.62955	.	.	ENSG00000196455	ENST00000356763	T	0.31769	1.48	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.041994	0.85682	D	0.000000	T	0.52191	0.1719	M	0.93062	3.375	0.80722	D	1	B	0.33883	0.43	B	0.40101	0.319	T	0.61412	-0.7068	10	0.72032	D	0.01	-38.404	16.099	0.81152	0.0:0.0:0.0:1.0	.	586	Q99570	PI3R4_HUMAN	S	586	ENSP00000349205:N586S	ENSP00000349205:N586S	N	-	2	0	PIK3R4	131930047	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	7.673000	0.83973	2.210000	0.71456	0.482000	0.46254	AAT	PIK3R4	-	superfamily_ARM-type_fold	ENSG00000196455		0.338	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	77	0.00	0	T	NM_014602		130447357	130447357	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	20	52.38	22	SNP	1.000	C
PLEC	5339	genome.wustl.edu	37	8	144991532	144991532	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr8:144991532A>G	ENST00000322810.4	-	32	13037	c.12868T>C	c.(12868-12870)Tca>Cca	p.S4290P	PLEC_ENST00000345136.3_Missense_Mutation_p.S4153P|PLEC_ENST00000354589.3_Missense_Mutation_p.S4153P|PLEC_ENST00000527096.1_Missense_Mutation_p.S4176P|PLEC_ENST00000436759.2_Missense_Mutation_p.S4180P|PLEC_ENST00000356346.3_Missense_Mutation_p.S4139P|PLEC_ENST00000398774.2_Missense_Mutation_p.S4121P|PLEC_ENST00000357649.2_Missense_Mutation_p.S4157P|PLEC_ENST00000354958.2_Missense_Mutation_p.S4131P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4290	Binding to intermediate filaments. {ECO:0000250}.|Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGTACACTGACATCTCCTTG	0.627																																						dbGAP											0													77.0	86.0	83.0					8																	144991532		2153	4250	6403	-	-	-	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12868T>C	8.37:g.144991532A>G	ENSP00000323856:p.Ser4290Pro		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S4290P	ENST00000322810.4	37	c.12868	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	A	9.652	1.141765	0.21205	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.08	5.08	0.68730	.	0.088906	0.45606	U	0.000355	D	0.84202	0.5420	L	0.56280	1.765	0.48511	D	0.999667	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;D;P;P;P;P	0.65874	0.9;0.9;0.9;0.939;0.9;0.9;0.9;0.9	D	0.85480	0.1178	10	0.59425	D	0.04	.	14.672	0.68951	1.0:0.0:0.0:0.0	.	4180;4139;4131;4290;4121;4153;4157;4153	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	P	4153;4157;4153;4121;4290;4131;4139;4180;4176	ENSP00000344848:S4153P;ENSP00000350277:S4157P;ENSP00000346602:S4153P;ENSP00000381756:S4121P;ENSP00000323856:S4290P;ENSP00000347044:S4131P;ENSP00000348702:S4139P;ENSP00000388180:S4180P;ENSP00000434583:S4176P	ENSP00000323856:S4290P	S	-	1	0	PLEC	145063520	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	4.750000	0.62162	2.136000	0.66102	0.408000	0.27601	TCA	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000178209		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	34	0.00	0	A	NM_000445		144991532	144991532	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	G
POLR3A	11128	genome.wustl.edu	37	10	79778932	79778932	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr10:79778932G>T	ENST00000372371.3	-	9	1414	c.1277C>A	c.(1276-1278)aCg>aAg	p.T426K	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	426					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCATCTGCGTATGTCTCTG	0.428																																						dbGAP											0													179.0	158.0	165.0					10																	79778932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1277C>A	10.37:g.79778932G>T	ENSP00000361446:p.Thr426Lys		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.T426K	ENST00000372371.3	37	c.1277	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	5.608	0.296848	0.10622	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.66099	-0.19	5.64	-0.401	0.12407	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.365631	0.33515	N	0.004825	T	0.50326	0.1609	L	0.31752	0.955	0.22156	N	0.999322	B	0.33857	0.429	B	0.42030	0.373	T	0.46582	-0.9181	9	.	.	.	-5.7362	10.7207	0.46038	0.4491:0.0:0.5509:0.0	.	426	O14802	RPC1_HUMAN	K	426	ENSP00000361446:T426K	.	T	-	2	0	POLR3A	79448938	0.791000	0.28800	0.003000	0.11579	0.777000	0.43975	1.116000	0.31221	0.027000	0.15297	0.650000	0.86243	ACG	POLR3A	-	pfam_RNA_pol_asu,smart_RNA_pol_N	ENSG00000148606		0.428	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	140	0.00	0	G	NM_007055		79778932	79778932	-1	no_errors	ENST00000372371	ensembl	human	known	69_37n	missense	50	37.04	30	SNP	0.004	T
RALGAPA1	253959	genome.wustl.edu	37	14	36207803	36207803	+	Silent	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr14:36207803G>A	ENST00000389698.3	-	12	1893	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	RALGAPA1_ENST00000382366.3_Silent_p.N501N|RALGAPA1_ENST00000258840.6_Silent_p.N501N|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000307138.6_Silent_p.N501N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	501					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGGAGCCGTTTTTTGCCC	0.418																																						dbGAP											0													132.0	125.0	127.0					14																	36207803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1503C>T	14.37:g.36207803G>A			A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.N501	ENST00000389698.3	37	c.1503	CCDS32065.1	14																																																																																			RALGAPA1	-	NULL	ENSG00000174373		0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	116	0.00	0	G	XM_210022		36207803	36207803	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	silent	34	29.17	14	SNP	1.000	A
RFWD2	64326	genome.wustl.edu	37	1	176012377	176012377	+	Silent	SNP	A	A	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr1:176012377A>T	ENST00000367669.3	-	14	2071	c.1557T>A	c.(1555-1557)gtT>gtA	p.V519V	RFWD2_ENST00000308769.8_Silent_p.V495V	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	519					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AATTAAAGTCAACACTCCAAC	0.403																																					Ovarian(134;1413 1765 5706 35534 51541)	dbGAP											0													163.0	155.0	158.0					1																	176012377		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1557T>A	1.37:g.176012377A>T			E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L239*	ENST00000367669.3	37	c.716	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272560	0.23221	.	.	ENSG00000143207	ENST00000459744	.	.	.	5.56	3.22	0.36961	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5835	5.6961	0.17857	0.732:0.0:0.1422:0.1258	.	.	.	.	X	239	.	.	L	-	2	0	RFWD2	174279000	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.683000	0.25349	0.472000	0.27344	0.460000	0.39030	TTG	RFWD2	-	superfamily_WD40_repeat_dom	ENSG00000143207		0.403	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	92	0.00	0	A	NM_022457		176012377	176012377	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000459744	ensembl	human	novel	69_37n	nonsense	26	23.53	8	SNP	1.000	T
RPGRIP1L	23322	genome.wustl.edu	37	16	53725984	53725984	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr16:53725984delT	ENST00000379925.3	-	4	573	c.523delA	c.(523-525)aggfs	p.R175fs	RPGRIP1L_ENST00000563746.1_Frame_Shift_Del_p.R175fs|RPGRIP1L_ENST00000262135.4_Frame_Shift_Del_p.R175fs|RPGRIP1L_ENST00000564374.1_Frame_Shift_Del_p.R175fs	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	175					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTACCTTTCCTGGGGCATTCC	0.353																																						dbGAP											0													182.0	173.0	176.0					16																	53725984		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.523delA	16.37:g.53725984delT	ENSP00000369257:p.Arg175fs		A0PJ88|Q9Y2K8	Frame_Shift_Del	DEL	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R175fs	ENST00000379925.3	37	c.523	CCDS32447.1	16																																																																																			RPGRIP1L	-	NULL	ENSG00000103494		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	146	0.00	0	T	NM_015272		53725984	53725984	-1	no_errors	ENST00000379925	ensembl	human	known	69_37n	frame_shift_del	90	21.01	25	DEL	0.985	-
RYR2	6262	genome.wustl.edu	37	1	237753140	237753140	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr1:237753140A>G	ENST00000366574.2	+	30	3963	c.3646A>G	c.(3646-3648)Aac>Gac	p.N1216D	RYR2_ENST00000542537.1_Missense_Mutation_p.N1200D|RYR2_ENST00000360064.6_Missense_Mutation_p.N1214D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1216	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			GGGTAGGATGAACTTTGGAAA	0.393																																						dbGAP											0													102.0	99.0	100.0					1																	237753140		1911	4127	6038	-	-	-	SO:0001583	missense	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.3646A>G	1.37:g.237753140A>G	ENSP00000355533:p.Asn1216Asp		Q15411|Q546N8|Q5T3P2	Missense_Mutation	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.N1214D	ENST00000366574.2	37	c.3640	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	a	19.12	3.765210	0.69878	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.71817	-0.6;-0.6;-0.6	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	T	0.78496	0.4292	M	0.92604	3.325	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.78650	-0.2121	10	0.87932	D	0	.	15.5793	0.76422	1.0:0.0:0.0:0.0	.	1216	Q92736	RYR2_HUMAN	D	1216;1214;1200	ENSP00000355533:N1216D;ENSP00000353174:N1214D;ENSP00000443798:N1200D	ENSP00000353174:N1214D	N	+	1	0	RYR2	235819763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.457000	0.80775	2.073000	0.62155	0.528000	0.53228	AAC	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	70	0.00	0	A	NM_001035		237753140	237753140	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	G
SEC16A	9919	genome.wustl.edu	37	9	139341757	139341757	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr9:139341757G>A	ENST00000371706.3	-	25	6118	c.6085C>T	c.(6085-6087)Ccg>Tcg	p.P2029S	SEC16A_ENST00000313050.7_Missense_Mutation_p.P2207S|SEC16A_ENST00000313084.5_Missense_Mutation_p.P213S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P2029S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P2029S|SEC16A_ENST00000398335.1_3'UTR			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2029	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCGAGAGCCGGCTCGCTCCGC	0.617																																						dbGAP											0													16.0	23.0	21.0					9																	139341757		2009	4153	6162	-	-	-	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6085C>T	9.37:g.139341757G>A	ENSP00000360771:p.Pro2029Ser		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P2207S	ENST00000371706.3	37	c.6619		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.328693|2.328693	0.41197|0.41197	.|.	.|.	ENSG00000148396|ENSG00000148396	ENST00000433860|ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.|T;T;T;T;T;T	.|0.49139	.|1.8;0.79;1.38;1.8;1.78;1.79	5.26|5.26	3.37|3.37	0.38596|0.38596	.|.	.|0.609273	.|0.17648	.|N	.|0.166797	T|T	0.53061|0.53061	0.1773|0.1773	L|L	0.54908|0.54908	1.71|1.71	0.20563|0.20563	N|N	0.999887|0.999887	.|D;P;P;B;B;P;D;P;D	.|0.61697	.|0.99;0.473;0.724;0.112;0.068;0.506;0.981;0.627;0.99	.|P;B;P;B;B;B;P;B;P	.|0.57152	.|0.814;0.262;0.734;0.049;0.013;0.12;0.795;0.219;0.814	T|T	0.39840|0.39840	-0.9594|-0.9594	5|10	.|0.25106	.|T	.|0.35	-7.5988|-7.5988	9.4845|9.4845	0.38922|0.38922	0.0784:0.4499:0.4718:0.0|0.0784:0.4499:0.4718:0.0	.|.	.|48;2207;2029;2029;1597;2029;565;213;48	.|B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;C9JVR0;Q8N9G1;F6VLX6	.|.;.;.;.;.;SC16A_HUMAN;.;.;.	V|S	336|2207;601;929;2029;213;48;2029;2029;1597;565	.|ENSP00000325827:P2207S;ENSP00000277537:P601S;ENSP00000403525:P929S;ENSP00000360771:P2029S;ENSP00000290037:P2029S;ENSP00000387583:P2029S	.|ENSP00000277537:P601S	A|P	-|-	2|1	0|0	SEC16A|SEC16A	138461578|138461578	0.007000|0.007000	0.16637|0.16637	0.010000|0.010000	0.14722|0.14722	0.017000|0.017000	0.09413|0.09413	0.249000|0.249000	0.18216|0.18216	0.673000|0.673000	0.31224|0.31224	0.455000|0.455000	0.32223|0.32223	GCC|CCG	SEC16A	-	NULL	ENSG00000148396		0.617	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	28	0.00	0	G	XM_088459		139341757	139341757	-1	no_errors	ENST00000313050	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	0.003	A
SHANK1	50944	genome.wustl.edu	37	19	51217448	51217448	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr19:51217448C>A	ENST00000293441.1	-	4	649	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	SHANK1_ENST00000359082.3_Missense_Mutation_p.D211Y|SHANK1_ENST00000391814.1_Missense_Mutation_p.D211Y	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	211					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTCCCGAATCCGAGTCATGG	0.607																																						dbGAP											0													61.0	51.0	55.0					19																	51217448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.631G>T	19.37:g.51217448C>A	ENSP00000293441:p.Asp211Tyr		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D211Y	ENST00000293441.1	37	c.631	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211067	0.58343	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.17370	2.28;2.28;2.28	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.090541	0.41712	U	0.000836	T	0.27098	0.0664	N	0.25094	0.71	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	T	0.05903	-1.0857	10	0.87932	D	0	-8.1059	14.0937	0.65006	0.0:1.0:0.0:0.0	.	211	Q9Y566	SHAN1_HUMAN	Y	211	ENSP00000293441:D211Y;ENSP00000351984:D211Y;ENSP00000375690:D211Y	ENSP00000293441:D211Y	D	-	1	0	SHANK1	55909260	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.401000	0.66326	2.459000	0.83118	0.561000	0.74099	GAT	SHANK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000161681		0.607	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	57	0.00	0	C	NM_016148		51217448	51217448	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	missense	10	74.36	29	SNP	1.000	A
SIGLEC15	284266	genome.wustl.edu	37	18	43422081	43422081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr18:43422081C>T	ENST00000389474.3	+	6	1133	c.916C>T	c.(916-918)Cag>Tag	p.Q306*	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Nonsense_Mutation_p.Q152*	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	306					cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GTCCCAGGCCCAGGAGTCCAA	0.542																																						dbGAP											0													73.0	72.0	72.0					18																	43422081		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095432	CCDS32819.1	18q21.1	2014-01-28	2007-05-31	2007-05-31	ENSG00000197046	ENSG00000197046		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27596	protein-coding gene	gene with protein product			"""CD33 antigen-like 3"", ""CD33 molecule-like 3"""	CD33L3		17483134	Standard	NM_213602		Approved	HsT1361	uc002lbl.1	Q6ZMC9		ENST00000389474.3:c.916C>T	18.37:g.43422081C>T	ENSP00000374125:p.Gln306*		A8K2Y5|B4DVQ9	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Q306*	ENST00000389474.3	37	c.916	CCDS32819.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.181655	0.94885	.	.	ENSG00000197046	ENST00000389474;ENST00000546268	.	.	.	4.91	4.91	0.64330	.	0.131843	0.34652	N	0.003787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-16.621	13.4738	0.61297	0.0:1.0:0.0:0.0	.	.	.	.	X	306;152	.	ENSP00000374125:Q306X	Q	+	1	0	SIGLEC15	41676079	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.628000	0.54259	2.568000	0.86640	0.555000	0.69702	CAG	SIGLEC15	-	NULL	ENSG00000197046		0.542	SIGLEC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC15	HGNC	protein_coding	OTTHUMT00000410768.2	37	0.00	0	C	NM_213602		43422081	43422081	+1	no_errors	ENST00000389474	ensembl	human	known	69_37n	nonsense	32	21.95	9	SNP	1.000	T
STAT6	6778	genome.wustl.edu	37	12	57493104	57493104	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr12:57493104C>A	ENST00000300134.3	-	16	2189	c.1864G>T	c.(1864-1866)Gat>Tat	p.D622Y	STAT6_ENST00000556155.1_Missense_Mutation_p.D622Y|STAT6_ENST00000538913.2_Missense_Mutation_p.D512Y|STAT6_ENST00000454075.3_Missense_Mutation_p.D622Y|STAT6_ENST00000543873.2_Missense_Mutation_p.D622Y|STAT6_ENST00000537215.2_Missense_Mutation_p.D512Y	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	622	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAAGCCTCATCCTTGGGCTTC	0.572																																						dbGAP											0													97.0	98.0	98.0					12																	57493104		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1864G>T	12.37:g.57493104C>A	ENSP00000300134:p.Asp622Tyr		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.D622Y	ENST00000300134.3	37	c.1864	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225311	0.79576	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39;-4.39;-4.39;-4.39	4.8	4.8	0.61643	SH2 motif (3);	0.103284	0.64402	D	0.000003	D	0.98163	0.9393	M	0.77313	2.365	0.58432	D	0.999998	D;D	0.89917	1.0;0.974	D;P	0.71870	0.975;0.67	D	0.98725	1.0710	10	0.87932	D	0	-14.583	15.7354	0.77839	0.0:1.0:0.0:0.0	.	622;622	A8K4S9;P42226	.;STAT6_HUMAN	Y	622;512;512;622;622;512;622;512;50;622	ENSP00000300134:D622Y;ENSP00000445409:D512Y;ENSP00000438451:D622Y;ENSP00000451742:D622Y;ENSP00000444530:D512Y;ENSP00000401486:D622Y;ENSP00000450428:D50Y	ENSP00000300134:D622Y	D	-	1	0	STAT6	55779371	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.854000	0.48325	2.664000	0.90586	0.561000	0.74099	GAT	STAT6	-	smart_SH2,pfscan_SH2	ENSG00000166888		0.572	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	58	0.00	0	C	NM_003153		57493104	57493104	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	A
SWSAP1	126074	genome.wustl.edu	37	19	11486428	11486428	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr19:11486428G>C	ENST00000312423.2	+	2	485	c.426G>C	c.(424-426)caG>caC	p.Q142H	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	142					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										TGGCCCTCCAGACCCAGGAGG	0.627																																						dbGAP											0													79.0	73.0	75.0					19																	11486428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.426G>C	19.37:g.11486428G>C	ENSP00000310008:p.Gln142His		Q8NAM1	Missense_Mutation	SNP	NULL	p.Q142H	ENST00000312423.2	37	c.426	CCDS12259.1	19	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545764	0.65198	.	.	ENSG00000173928	ENST00000312423	T	0.49720	0.77	5.32	3.17	0.36434	.	0.532223	0.17495	N	0.172183	T	0.47544	0.1451	L	0.60455	1.87	0.09310	N	1	P	0.44578	0.838	P	0.47206	0.541	T	0.33471	-0.9867	10	0.45353	T	0.12	-17.3168	7.3758	0.26827	0.2775:0.0:0.7225:0.0	.	142	Q6NVH7	CS039_HUMAN	H	142	ENSP00000310008:Q142H	ENSP00000310008:Q142H	Q	+	3	2	C19orf39	11347428	0.013000	0.17824	0.999000	0.59377	0.927000	0.56198	0.675000	0.25232	1.217000	0.43442	0.655000	0.94253	CAG	SWSAP1	-	NULL	ENSG00000173928		0.627	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWSAP1	HGNC	protein_coding	OTTHUMT00000458789.1	41	0.00	0	G	NM_175871		11486428	11486428	+1	no_errors	ENST00000312423	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.018	C
TCF7L1	83439	genome.wustl.edu	37	2	85529633	85529633	+	Missense_Mutation	SNP	C	C	A	rs373884024		TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr2:85529633C>A	ENST00000282111.3	+	5	827	c.552C>A	c.(550-552)caC>caA	p.H184Q		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	184	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGTTCAGCACCCGCATCACA	0.512																																						dbGAP											0													165.0	167.0	167.0					2																	85529633		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.552C>A	2.37:g.85529633C>A	ENSP00000282111:p.His184Gln		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.H184Q	ENST00000282111.3	37	c.552	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942717	0.34283	.	.	ENSG00000152284	ENST00000282111	D	0.98512	-4.97	4.53	1.64	0.23874	CTNNB1 binding, N-teminal (1);	0.051155	0.85682	D	0.000000	D	0.97071	0.9043	M	0.64404	1.975	0.25845	N	0.984004	P	0.43231	0.801	P	0.49192	0.602	D	0.92595	0.6086	10	0.30854	T	0.27	.	8.6877	0.34247	0.0:0.7284:0.0:0.2716	.	184	Q9HCS4	TF7L1_HUMAN	Q	184	ENSP00000282111:H184Q	ENSP00000282111:H184Q	H	+	3	2	TCF7L1	85383144	0.323000	0.24643	0.988000	0.46212	0.624000	0.37722	-0.046000	0.11983	0.507000	0.28148	-0.136000	0.14681	CAC	TCF7L1	-	pfam_CTNNB1-bd_N	ENSG00000152284		0.512	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	48	0.00	0	C	NM_031283		85529633	85529633	+1	no_errors	ENST00000282111	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.997	A
TGM1	7051	genome.wustl.edu	37	14	24724436	24724436	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr14:24724436C>G	ENST00000206765.6	-	12	1792	c.1669G>C	c.(1669-1671)Gta>Cta	p.V557L	TGM1_ENST00000544573.1_Missense_Mutation_p.V115L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	557					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCTGTCTCTACTGCCTTCCGC	0.612																																						dbGAP											0													69.0	62.0	64.0					14																	24724436		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1669G>C	14.37:g.24724436C>G	ENSP00000206765:p.Val557Leu		B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.V557L	ENST00000206765.6	37	c.1669	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682082	0.47991	.	.	ENSG00000092295	ENST00000206765;ENST00000544573	D;D	0.94723	-3.5;-3.5	4.95	4.05	0.47172	.	0.059022	0.64402	D	0.000003	D	0.88299	0.6399	N	0.26042	0.785	0.48571	D	0.999673	P	0.43750	0.816	B	0.39805	0.31	D	0.85861	0.1410	10	0.08599	T	0.76	-19.1867	13.5134	0.61526	0.1579:0.8421:0.0:0.0	.	557	P22735	TGM1_HUMAN	L	557;115	ENSP00000206765:V557L;ENSP00000439446:V115L	ENSP00000206765:V557L	V	-	1	0	TGM1	23794276	0.997000	0.39634	0.997000	0.53966	0.926000	0.56050	3.173000	0.50839	1.268000	0.44264	0.563000	0.77884	GTA	TGM1	-	NULL	ENSG00000092295		0.612	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6	42	0.00	0	C	NM_000359		24724436	24724436	-1	no_errors	ENST00000206765	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	1.000	G
TNN	63923	genome.wustl.edu	37	1	175097249	175097249	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr1:175097249G>A	ENST00000239462.4	+	14	3240	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1043	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCCTTGTTGCCTTTAAGGG	0.547																																						dbGAP											0													100.0	85.0	90.0					1																	175097249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3127G>A	1.37:g.175097249G>A	ENSP00000239462:p.Ala1043Thr		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.A1043T	ENST00000239462.4	37	c.3127	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644944	0.87859	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.76448	-1.02	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.89601	3.045	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90979	0.4826	10	0.52906	T	0.07	.	19.6093	0.95599	0.0:0.0:1.0:0.0	.	1043	Q9UQP3	TENN_HUMAN	T	1043;866	ENSP00000239462:A1043T	ENSP00000239462:A1043T	A	+	1	0	TNN	173363872	1.000000	0.71417	0.994000	0.49952	0.389000	0.30415	7.567000	0.82357	2.740000	0.93945	0.313000	0.20887	GCC	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.547	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	38	0.00	0	G	XM_040527		175097249	175097249	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	A
TNS3	64759	genome.wustl.edu	37	7	47481602	47481602	+	5'UTR	SNP	G	G	A	rs11763044	byFrequency	TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr7:47481602G>A	ENST00000398879.1	-	0	343				TNS3_ENST00000458317.2_5'UTR|TNS3_ENST00000311160.9_5'UTR|TNS3_ENST00000442536.2_5'UTR|TNS3_ENST00000355730.3_5'UTR			Q68CZ2	TENS3_HUMAN	tensin 3						cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GACACTCACCGCAGAGGTTTA	0.483													G|||	1750	0.349441	0.0318	0.5346	5008	,	,		20508	0.4266		0.4712	False		,,,				2504	0.4427					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.-24C>T	7.37:g.47481602G>A			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Tyr_Pase_cat,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R96W	ENST00000398879.1	37	c.286	CCDS5506.2	7	763	0.34935897435897434	22	0.044715447154471545	171	0.4723756906077348	224	0.3916083916083916	346	0.45646437994722955	G	10.86	1.470374	0.26423	.	.	ENSG00000136205	ENST00000538633;ENST00000457718;ENST00000450444;ENST00000434451	D;D;D	0.95622	-3.23;-3.76;-3.5	4.09	-8.19	0.01049	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.29713	P	0.839272	.	.	.	.	.	.	T	0.45101	-0.9284	5	0.72032	D	0.01	.	6.582	0.22600	0.0985:0.0869:0.6469:0.1678	rs11763044;rs17544219;rs11763044	.	.	.	W	103;96;82;109	ENSP00000414358:R96W;ENSP00000396914:R82W;ENSP00000407464:R109W	ENSP00000407464:R109W	R	-	1	2	TNS3	47448127	0.004000	0.15560	0.005000	0.12908	0.002000	0.02628	-0.623000	0.05546	-1.610000	0.01583	-2.274000	0.00274	CGG	TNS3	-	NULL	ENSG00000136205		0.483	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	8	0.00	0	G	NM_022748		47481602	47481602	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000457718	ensembl	human	putative	69_37n	missense	1	83.33	5	SNP	0.001	A
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47.0	47.0	47.0					17																	7578394		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	46	0.00	0	T	NM_000546		7578394	7578394	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	11	60.71	17	SNP	1.000	C
TPSAB1	7177	genome.wustl.edu	37	16	1291454	1291454	+	Missense_Mutation	SNP	G	G	A	rs201351744		TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr16:1291454G>A	ENST00000338844.3	+	4	286	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	TPSAB1_ENST00000461509.2_Missense_Mutation_p.A92T	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	85	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		A -> T (in dbSNP:rs1141968). {ECO:0000269|PubMed:10898108, ECO:0000269|PubMed:2677049, ECO:0000269|Ref.5}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGATCTGGCCGCCCTCAGGGT	0.667																																						dbGAP											0													6.0	7.0	7.0					16																	1291454		2030	4042	6072	-	-	-	SO:0001583	missense	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.253G>A	16.37:g.1291454G>A	ENSP00000343577:p.Ala85Thr		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A85T	ENST00000338844.3	37	c.253	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	g	1.250	-0.618741	0.03663	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88975	-2.45;-2.45	2.93	-5.57	0.02521	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.192380	0.02106	N	0.054344	T	0.64204	0.2577	N	0.01146	-0.985	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.63475	-0.6629	10	0.12766	T	0.61	.	1.3572	0.02184	0.1257:0.3104:0.2064:0.3575	.	85	Q15661	TRYB1_HUMAN	T	85;92	ENSP00000343577:A85T;ENSP00000418247:A92T	ENSP00000343577:A85T	A	+	1	0	TPSAB1	1231455	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.166000	0.03129	-0.748000	0.04753	-0.346000	0.07831	GCC	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000172236		0.667	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	19	0.00	0	G	NM_003294		1291454	1291454	+1	no_errors	ENST00000562675	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.000	A
TRPM5	29850	genome.wustl.edu	37	11	2432879	2432879	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr11:2432879C>T	ENST00000155858.6	-	17	2601	c.2593G>A	c.(2593-2595)Gtg>Atg	p.V865M	TRPM5_ENST00000528453.1_Missense_Mutation_p.V865M|TRPM5_ENST00000452833.1_Missense_Mutation_p.V867M|TRPM5_ENST00000533060.1_Missense_Mutation_p.V865M	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CGCTCTACCACGATGATCTTG	0.662																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0													67.0	69.0	69.0					11																	2432879		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2593G>A	11.37:g.2432879C>T	ENSP00000155858:p.Val865Met			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.V867M	ENST00000155858.6	37	c.2599	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673038	0.47781	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.28	1.9	0.25705	Ion transport (1);	0.060911	0.64402	D	0.000004	T	0.25494	0.0620	N	0.00097	-2.15	0.28347	N	0.921083	D;D;B	0.54772	0.968;0.968;0.412	P;P;B	0.45753	0.492;0.492;0.129	T	0.38628	-0.9652	10	0.28530	T	0.3	-9.8517	7.5988	0.28065	0.0:0.1882:0.0:0.8118	.	865;867;865	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	M	859;865;867;865;865;865	ENSP00000434383:V859M;ENSP00000155858:V865M;ENSP00000387965:V867M;ENSP00000434121:V865M;ENSP00000436809:V865M	ENSP00000155858:V865M	V	-	1	0	TRPM5	2389455	1.000000	0.71417	0.937000	0.37676	0.593000	0.36681	3.127000	0.50484	0.168000	0.19655	-0.339000	0.08088	GTG	TRPM5	-	NULL	ENSG00000070985		0.662	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	40	0.00	0	C	NM_014555		2432879	2432879	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	T
TRIM64DP	727828	genome.wustl.edu	37	11	89515411	89515411	+	IGR	SNP	G	G	T			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr11:89515411G>T								RP11-313I2.11 (27290 upstream) : TRIM49 (15411 downstream)																							TCTGGGTCGGGTTGGGGTGTT	0.408																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															11.37:g.89515411G>T				RNA	SNP	-	NULL		37	NULL		11																																																																																			TRIM64DP	-	-	ENSG00000254751	0	0.408					TRIM64DP	HGNC			87	0.00	0	G			89515411	89515411	+1	no_errors	ENST00000532821	ensembl	human	known	69_37n	rna	32	27.27	12	SNP	0.938	T
TRPM8	79054	genome.wustl.edu	37	2	234871945	234871945	+	Missense_Mutation	SNP	G	G	A	rs201115161		TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr2:234871945G>A	ENST00000324695.4	+	13	1713	c.1673G>A	c.(1672-1674)cGg>cAg	p.R558Q	TRPM8_ENST00000433712.2_Missense_Mutation_p.R246Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	558					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTATTACTCGGCACCCCCTG	0.517																																						dbGAP											0													99.0	86.0	91.0					2																	234871945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1673G>A	2.37:g.234871945G>A	ENSP00000323926:p.Arg558Gln		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R558Q	ENST00000324695.4	37	c.1673	CCDS33407.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.65	2.599748	0.46318	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.62788	0.0;0.0	5.27	5.27	0.74061	.	0.096408	0.45867	D	0.000332	T	0.43678	0.1258	L	0.39898	1.24	0.35796	D	0.822779	P;P	0.43352	0.804;0.739	B;B	0.28553	0.042;0.091	T	0.54221	-0.8326	10	0.19147	T	0.46	-27.1715	11.3357	0.49503	0.0839:0.0:0.9161:0.0	.	246;558	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	Q	558;246	ENSP00000323926:R558Q;ENSP00000404423:R246Q	ENSP00000323926:R558Q	R	+	2	0	TRPM8	234536684	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.503000	0.66962	2.614000	0.88457	0.655000	0.94253	CGG	TRPM8	-	NULL	ENSG00000144481		0.517	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	100	0.00	0	G	NM_024080		234871945	234871945	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	missense	48	21.31	13	SNP	0.999	A
TXK	7294	genome.wustl.edu	37	4	48115241	48115241	+	Silent	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr4:48115241A>G	ENST00000264316.4	-	3	242	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	53					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTATTTGACAATTGGCTGAGC	0.443																																						dbGAP											0													135.0	134.0	134.0					4																	48115241		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.157T>C	4.37:g.48115241A>G			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L53	ENST00000264316.4	37	c.157	CCDS3480.1	4																																																																																			TXK	-	superfamily_SH3_domain	ENSG00000074966		0.443	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	116	0.00	0	A	NM_003328		48115241	48115241	-1	no_errors	ENST00000264316	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.000	G
U2SURP	23350	genome.wustl.edu	37	3	142753807	142753807	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr3:142753807A>G	ENST00000473835.2	+	19	2021	c.1931A>G	c.(1930-1932)gAa>gGa	p.E644G	U2SURP_ENST00000493598.2_Missense_Mutation_p.E643G|U2SURP_ENST00000397933.2_Missense_Mutation_p.E235G	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	644	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTACAATCTGAAAACTTTAAG	0.353																																						dbGAP											0													66.0	67.0	67.0					3																	142753807		1828	4091	5919	-	-	-	SO:0001583	missense	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1931A>G	3.37:g.142753807A>G	ENSP00000418563:p.Glu644Gly		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.E644G	ENST00000473835.2	37	c.1931	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891970	0.91889	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.6	5.6	0.85130	ENTH/VHS (1);RNA polymerase II, large subunit, CTD (2);	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.992;0.962	T	0.80804	-0.1219	10	0.87932	D	0	-20.2377	15.7768	0.78228	1.0:0.0:0.0:0.0	.	643;235;644	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	G	644;644;235;643;211	ENSP00000418563:E644G;ENSP00000381027:E235G;ENSP00000422011:E643G;ENSP00000417441:E211G	ENSP00000322376:E644G	E	+	2	0	U2SURP	144236497	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.432000	0.90288	2.129000	0.65627	0.528000	0.53228	GAA	U2SURP	-	superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000163714		0.353	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	83	0.00	0	A	NM_001080415		142753807	142753807	+1	no_errors	ENST00000319822	ensembl	human	known	69_37n	missense	65	30.11	28	SNP	1.000	G
UBN1	29855	genome.wustl.edu	37	16	4924574	4924574	+	Silent	SNP	T	T	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr16:4924574T>G	ENST00000396658.4	+	14	2866	c.2163T>G	c.(2161-2163)ccT>ccG	p.P721P	UBN1_ENST00000545171.1_Silent_p.P721P|UBN1_ENST00000262376.6_Silent_p.P721P|UBN1_ENST00000590769.1_Silent_p.P721P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	721					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TTGCGAAGCCTAGTCCTTCTG	0.502																																						dbGAP											0													153.0	170.0	165.0					16																	4924574		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2163T>G	16.37:g.4924574T>G			B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.L181R	ENST00000396658.4	37	c.542	CCDS10525.1	16																																																																																			UBN1	-	NULL	ENSG00000118900		0.502	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	39	0.00	0	T	NM_016936		4924574	4924574	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586716	ensembl	human	novel	69_37n	missense	27	34.15	14	SNP	0.857	G
UGT1A1	54658	genome.wustl.edu	37	2	234526969	234526969	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr2:234526969A>G	ENST00000373450.4	+	1	679	c.616A>G	c.(616-618)Aga>Gga	p.R206G		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	209					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTCAAGGAGAGAGTACGGAA	0.443																																						dbGAP											0													190.0	200.0	196.0					2																	234526969		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.616A>G	2.37:g.234526969A>G	ENSP00000362549:p.Arg206Gly		A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R206G	ENST00000373450.4	37	c.616	CCDS33402.1	2	.	.	.	.	.	.	.	.	.	.	A	15.09	2.730465	0.48939	.	.	ENSG00000242366	ENST00000373450	T	0.72615	-0.67	3.96	-0.531	0.11894	.	.	.	.	.	D	0.87728	0.6250	H	0.96833	3.89	0.35979	D	0.835889	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.91313	0.5076	9	0.87932	D	0	.	13.228	0.59924	0.4092:0.5908:0.0:0.0	.	206;206	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	G	206	ENSP00000362549:R206G	ENSP00000362549:R206G	R	+	1	2	UGT1A8	234191708	1.000000	0.71417	0.841000	0.33234	0.717000	0.41224	1.062000	0.30555	0.154000	0.19237	0.414000	0.27820	AGA	UGT1A8	-	pfam_UDP_glucos_trans	ENSG00000242366		0.443	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UGT1A8	HGNC	protein_coding	OTTHUMT00000130994.1	127	0.00	0	A			234526969	234526969	+1	no_errors	ENST00000373450	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	0.999	G
VPS13C	54832	genome.wustl.edu	37	15	62211583	62211583	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr15:62211583C>G	ENST00000261517.5	-	58	7616	c.7543G>C	c.(7543-7545)Gta>Cta	p.V2515L	VPS13C_ENST00000249837.3_Missense_Mutation_p.V2472L|VPS13C_ENST00000395898.3_Missense_Mutation_p.V2472L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V2515L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGATTCCGTACATTATACAAT	0.418																																						dbGAP											0													147.0	144.0	145.0					15																	62211583		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7543G>C	15.37:g.62211583C>G	ENSP00000261517:p.Val2515Leu			Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.V2515L	ENST00000261517.5	37	c.7543	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560627	0.45590	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.30981	1.51;1.52;1.69	5.59	5.59	0.84812	.	0.251752	0.38897	N	0.001525	T	0.30854	0.0778	M	0.70595	2.14	0.46981	D	0.999278	B;B;P;P	0.36378	0.34;0.243;0.478;0.55	B;B;B;B	0.34418	0.062;0.182;0.09;0.135	T	0.06075	-1.0847	10	0.11485	T	0.65	.	13.6555	0.62336	0.0:0.9198:0.0:0.0802	.	2472;2515;2472;2515	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2472;2515;2515;2515	ENSP00000249837:V2472L;ENSP00000261517:V2515L;ENSP00000379233:V2515L	ENSP00000249837:V2472L	V	-	1	0	VPS13C	59998875	0.998000	0.40836	0.920000	0.36463	0.531000	0.34715	2.623000	0.46435	2.763000	0.94921	0.655000	0.94253	GTA	VPS13C	-	NULL	ENSG00000129003		0.418	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	76	0.00	0	C	NM_017684		62211583	62211583	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	26	46.94	23	SNP	1.000	G
YWHAH	7533	genome.wustl.edu	37	22	32352686	32352686	+	Silent	SNP	T	T	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr22:32352686T>C	ENST00000248975.5	+	2	921	c.648T>C	c.(646-648)taT>taC	p.Y216Y	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	216					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGGATTCCTATAAGGACTCCA	0.517																																					Ovarian(98;460 2060 9263 44007)	dbGAP											0													64.0	50.0	55.0					22																	32352686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.648T>C	22.37:g.32352686T>C				Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.Y216	ENST00000248975.5	37	c.648	CCDS13901.1	22																																																																																			YWHAH	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000128245		0.517	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAH	HGNC	protein_coding	OTTHUMT00000075721.2	39	0.00	0	T	NM_003405		32352686	32352686	+1	no_errors	ENST00000248975	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	1.000	C
ZC2HC1A	51101	genome.wustl.edu	37	8	79598812	79598814	+	In_Frame_Del	DEL	TCC	TCC	-	rs376863949		TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr8:79598812_79598814delTCC	ENST00000263849.4	+	4	423_425	c.321_323delTCC	c.(319-324)cttcct>ctt	p.P113del	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	113							metal ion binding (GO:0046872)										GTGGCAAACTTCCTCCTCCTCCT	0.379																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.321_323delTCC	8.37:g.79598821_79598823delTCC	ENSP00000263849:p.Pro113del		Q9Y372	In_Frame_Del	DEL	NULL	p.P111in_frame_del	ENST00000263849.4	37	c.321_323	CCDS6223.1	8																																																																																			ZC2HC1A	-	NULL	ENSG00000104427		0.379	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	42	0.00	0	TCC	NM_016010		79598812	79598814	+1	no_errors	ENST00000263849	ensembl	human	known	69_37n	in_frame_del	18	10.00	2	DEL	0.987:1.000:1.000	-
ZFYVE28	57732	genome.wustl.edu	37	4	2341251	2341251	+	Silent	SNP	C	C	G			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr4:2341251C>G	ENST00000290974.2	-	4	789	c.450G>C	c.(448-450)ctG>ctC	p.L150L	ZFYVE28_ENST00000509171.1_Silent_p.L103L|ZFYVE28_ENST00000503000.1_Silent_p.L150L|ZFYVE28_ENST00000511071.1_Silent_p.L150L|ZFYVE28_ENST00000515312.1_Silent_p.L80L|ZFYVE28_ENST00000515169.1_Silent_p.L80L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	150					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGTAGGTGTTCAGGTCCCGCA	0.657																																						dbGAP											0													89.0	73.0	78.0					4																	2341251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.450G>C	4.37:g.2341251C>G			B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L150	ENST00000290974.2	37	c.450	CCDS33942.1	4																																																																																			ZFYVE28	-	NULL	ENSG00000159733		0.657	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	37	0.00	0	C	XM_035371		2341251	2341251	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	1.000	G
ZNF260	339324	genome.wustl.edu	37	19	37006039	37006039	+	Silent	SNP	T	T	C			TCGA-EW-A1P4-01A-21D-A142-09	TCGA-EW-A1P4-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	204e4ef3-e6b8-469f-9024-56c6f6f07afd	99c296d2-1d17-47c0-b036-239170e2ff1a	g.chr19:37006039T>C	ENST00000523638.1	-	3	1223	c.102A>G	c.(100-102)aaA>aaG	p.K34K	ZNF260_ENST00000588993.1_Silent_p.K34K|ZNF260_ENST00000592282.1_Silent_p.K34K|ZNF260_ENST00000593142.1_Silent_p.K34K	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	34					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGCTAAAAGTTTTTCTACATT	0.378																																						dbGAP											0													94.0	94.0	94.0					19																	37006039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.102A>G	19.37:g.37006039T>C			Q0VF43	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K34	ENST00000523638.1	37	c.102	CCDS33003.1	19																																																																																			ZNF260	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000254004		0.378	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	56	0.00	0	T	NM_001012756		37006039	37006039	-1	no_errors	ENST00000523638	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.687	C
