#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
ABCF2	10061	genome.wustl.edu	37	7	150916170	150916170	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr7:150916170C>G	ENST00000287844.2	-	8	1106	c.997G>C	c.(997-999)Gat>Cat	p.D333H	ABCF2_ENST00000222388.2_Missense_Mutation_p.D333H|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	333					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAATCTGATCTTGCTCCCAG	0.527																																						dbGAP											0													224.0	195.0	205.0					7																	150916170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.997G>C	7.37:g.150916170C>G	ENSP00000287844:p.Asp333His		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D333H	ENST00000287844.2	37	c.997	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.136053	0.94517	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.92048	-2.91;-2.96	5.36	5.36	0.76844	.	0.339258	0.33553	N	0.004799	D	0.96087	0.8725	M	0.92367	3.3	0.80722	D	1	P;P	0.52577	0.954;0.954	P;P	0.54706	0.759;0.759	D	0.96886	0.9649	10	0.72032	D	0.01	-19.8303	16.2682	0.82601	0.0:1.0:0.0:0.0	.	333;333	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	H	333	ENSP00000222388:D333H;ENSP00000287844:D333H	ENSP00000222388:D333H	D	-	1	0	ABCF2	150547103	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.264000	0.78432	2.496000	0.84212	0.563000	0.77884	GAT	ABCF2	-	NULL	ENSG00000033050		0.527	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	48	0.00	0	C	NM_005692		150916170	150916170	-1	no_errors	ENST00000222388	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	G
ADCY9	115	genome.wustl.edu	37	16	4015842	4015842	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr16:4015842G>T	ENST00000294016.3	-	11	4534	c.3996C>A	c.(3994-3996)gaC>gaA	p.D1332E		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1332					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTCGTCACAGTCGTCTTTCT	0.567																																						dbGAP											0													196.0	183.0	187.0					16																	4015842		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3996C>A	16.37:g.4015842G>T	ENSP00000294016:p.Asp1332Glu		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D1332E	ENST00000294016.3	37	c.3996	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085519	0.36758	.	.	ENSG00000162104	ENST00000294016	D	0.83419	-1.72	5.77	5.77	0.91146	.	0.254820	0.38548	N	0.001652	T	0.75376	0.3841	L	0.27053	0.805	0.35321	D	0.784773	B	0.27853	0.191	B	0.20577	0.03	T	0.74034	-0.3794	10	0.27785	T	0.31	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	1332	O60503	ADCY9_HUMAN	E	1332	ENSP00000294016:D1332E	ENSP00000294016:D1332E	D	-	3	2	ADCY9	3955843	1.000000	0.71417	0.996000	0.52242	0.170000	0.22686	3.844000	0.55873	2.884000	0.98904	0.655000	0.94253	GAC	ADCY9	-	NULL	ENSG00000162104		0.567	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	133	0.00	0	G			4015842	4015842	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	89	21.93	25	SNP	1.000	T
ALG13	79868	genome.wustl.edu	37	X	110970673	110970673	+	Splice_Site	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:110970673G>T	ENST00000394780.3	+	17	2102	c.2090G>T	c.(2089-2091)cGt>cTt	p.R697L	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Splice_Site_p.R593L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	697					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TATAGATCTCGGTAAGTATTG	0.368																																						dbGAP											0													51.0	44.0	46.0					X																	110970673		1568	3582	5150	-	-	-	SO:0001630	splice_region_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2090+1G>T	X.37:g.110970673G>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.R593L	ENST00000394780.3	37	c.1778	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793328	0.50102	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.72835	0.34;-0.69	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	L	0.61218	1.895	0.42978	D	0.994454	D;P;D	0.89917	1.0;0.777;1.0	D;B;D	0.91635	0.998;0.114;0.999	T	0.82575	-0.0389	10	0.54805	T	0.06	-6.2695	13.4959	0.61426	0.0:0.0:0.844:0.156	.	619;697;593	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	593;697;330	ENSP00000251943:R593L;ENSP00000378260:R697L	ENSP00000251943:R593L	R	+	2	0	ALG13	110857329	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	3.663000	0.54518	2.319000	0.78375	0.594000	0.82650	CGT	ALG13	-	NULL	ENSG00000101901		0.368	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	31	0.00	0	G	NM_018466	Missense_Mutation	110970673	110970673	+1	no_errors	ENST00000251943	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	T
ALMS1	7840	genome.wustl.edu	37	2	73799946	73799946	+	Nonsense_Mutation	SNP	G	G	T	rs397514576		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:73799946G>T	ENST00000264448.6	+	16	11050	c.10939G>T	c.(10939-10941)Gaa>Taa	p.E3647*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E3605*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3647					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E3647*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCAGGTCTCAGAAAGTACACA	0.443																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											131.0	129.0	130.0					2																	73799946		1932	4142	6074	-	-	-	SO:0001587	stop_gained	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10939G>T	2.37:g.73799946G>T	ENSP00000264448:p.Glu3647*		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	NULL	p.E3647*	ENST00000264448.6	37	c.10939	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	52	18.894249	0.99912	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	5.48	5.48	0.80851	.	0.000000	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.8522	0.70306	0.0:0.0:1.0:0.0	.	.	.	.	X	3605;3647	.	ENSP00000264448:E3647X	E	+	1	0	ALMS1	73653454	0.366000	0.25014	1.000000	0.80357	0.993000	0.82548	1.814000	0.38972	2.588000	0.87417	0.655000	0.94253	GAA	ALMS1	-	NULL	ENSG00000116127		0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	43	0.00	0	G	NM_015120		73799946	73799946	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	nonsense	30	26.83	11	SNP	0.993	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133015299	133015299	+	5'UTR	SNP	C	C	T	rs79554046	byFrequency	TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:133015299C>T	ENST00000470729.1	-	0	243				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						CCCGCAGAGGCGCTCAGGGAC	0.677																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1182G>A	2.37:g.133015299C>T			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.677	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	13	0.00	0	C	NR_027019		133015299	133015299	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	11	45.00	9	SNP	0.007	T
ASTN1	460	genome.wustl.edu	37	1	176915214	176915214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:176915214G>T	ENST00000367654.3	-	13	2332	c.2121C>A	c.(2119-2121)tgC>tgA	p.C707*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.C699*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.C699*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.C699*|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	707	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGAGTTGGCAAGAGCGTC	0.507																																						dbGAP											0													111.0	97.0	102.0					1																	176915214		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2121C>A	1.37:g.176915214G>T	ENSP00000356626:p.Cys707*		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.C707*	ENST00000367654.3	37	c.2121		1	.	.	.	.	.	.	.	.	.	.	G	38	6.695516	0.97768	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.4	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.6004	8.6501	0.34029	0.2333:0.0:0.7667:0.0	.	.	.	.	X	699;699;707;699;699	.	ENSP00000354536:C699X	C	-	3	2	ASTN1	175181837	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	3.416000	0.52707	0.661000	0.30985	0.655000	0.94253	TGC	ASTN1	-	smart_EGF-like	ENSG00000152092		0.507	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		33	0.00	0	G	NM_004319		176915214	176915214	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	nonsense	28	15.15	5	SNP	1.000	T
ATP6AP1	537	genome.wustl.edu	37	X	153662003	153662003	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:153662003G>A	ENST00000369762.2	+	6	682	c.621G>A	c.(619-621)ctG>ctA	p.L207L	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	207					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCAGGTCCTGAGCACACTCA	0.592																																						dbGAP											0													132.0	89.0	104.0					X																	153662003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.621G>A	X.37:g.153662003G>A			A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	pfam_BIG/ATPase_V1_suS1	p.L207	ENST00000369762.2	37	c.621	CCDS35451.1	X																																																																																			ATP6AP1	-	pfam_BIG/ATPase_V1_suS1	ENSG00000071553		0.592	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	54	0.00	0	G	NM_001183		153662003	153662003	+1	no_errors	ENST00000369762	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	1.000	A
ATXN2	6311	genome.wustl.edu	37	12	111923644	111923644	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr12:111923644G>A	ENST00000377617.3	-	17	2971	c.2810C>T	c.(2809-2811)tCa>tTa	p.S937L	ATXN2_ENST00000535949.1_Missense_Mutation_p.S648L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S672L|ATXN2_ENST00000542287.2_Missense_Mutation_p.S672L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S937L|ATXN2_ENST00000608853.1_Missense_Mutation_p.S777L|AC002395.1_ENST00000581907.1_RNA	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	937	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCCGAGGTGAAGTTGGGGT	0.393																																						dbGAP											0													134.0	126.0	129.0					12																	111923644		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2810C>T	12.37:g.111923644G>A	ENSP00000366843:p.Ser937Leu		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S937L	ENST00000377617.3	37	c.2810	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847114	0.71603	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.71934	-0.44;-0.61	5.71	5.71	0.89125	.	0.121142	0.64402	D	0.000017	T	0.73194	0.3556	N	0.17082	0.46	0.52501	D	0.999958	D;B;B;B	0.63880	0.993;0.003;0.015;0.012	D;B;B;B	0.72338	0.977;0.003;0.016;0.011	T	0.67806	-0.5575	10	0.15499	T	0.54	-10.3684	19.8673	0.96808	0.0:0.0:1.0:0.0	.	937;648;672;672	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	L	672;937;937;672;648	ENSP00000366843:S937L;ENSP00000446576:S937L	ENSP00000366843:S937L	S	-	2	0	ATXN2	110408027	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.650000	0.83521	2.709000	0.92574	0.655000	0.94253	TCA	ATXN2	-	NULL	ENSG00000204842		0.393	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	102	0.00	0	G	NM_002973		111923644	111923644	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	54	23.94	17	SNP	0.998	A
B4GALT5	9334	genome.wustl.edu	37	20	48260137	48260137	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr20:48260137C>G	ENST00000371711.4	-	4	602	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	139					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAGAAGAGTTCATGAATGTAA	0.453																																						dbGAP											0													199.0	177.0	184.0					20																	48260137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.415G>C	20.37:g.48260137C>G	ENSP00000360776:p.Glu139Gln		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.E139Q	ENST00000371711.4	37	c.415	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	C	8.644	0.896641	0.17686	.	.	ENSG00000158470	ENST00000371711	T	0.23552	1.9	5.46	4.52	0.55395	.	0.339258	0.34777	N	0.003686	T	0.07773	0.0195	N	0.00801	-1.175	0.37230	D	0.905629	B	0.10296	0.003	B	0.13407	0.009	T	0.17961	-1.0352	10	0.17369	T	0.5	-10.5899	9.3509	0.38138	0.0:0.6643:0.2539:0.0818	.	139	O43286	B4GT5_HUMAN	Q	139	ENSP00000360776:E139Q	ENSP00000360776:E139Q	E	-	1	0	B4GALT5	47693544	0.173000	0.23056	0.671000	0.29857	0.987000	0.75469	2.022000	0.41030	1.291000	0.44653	0.561000	0.74099	GAA	B4GALT5	-	pfam_Galactosyl_T_2_met	ENSG00000158470		0.453	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	117	0.00	0	C	NM_004776		48260137	48260137	-1	no_errors	ENST00000371711	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	0.918	G
BDP1	55814	genome.wustl.edu	37	5	70757714	70757714	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr5:70757714G>A	ENST00000358731.4	+	3	823	c.560G>A	c.(559-561)aGa>aAa	p.R187K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	187	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGACTATGAGAGACTTCATA	0.294																																						dbGAP											0													84.0	90.0	88.0					5																	70757714		1878	4115	5993	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.560G>A	5.37:g.70757714G>A	ENSP00000351575:p.Arg187Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.R187K	ENST00000358731.4	37	c.560	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984059	0.93044	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.24151	1.87	5.07	5.07	0.68467	.	0.164660	0.53938	D	0.000048	T	0.52677	0.1749	M	0.74258	2.255	0.80722	D	1	D;D;D	0.67145	0.984;0.996;0.99	D;D;D	0.76071	0.924;0.987;0.945	T	0.56165	-0.8024	10	0.66056	D	0.02	.	17.5877	0.87987	0.0:0.0:1.0:0.0	.	187;187;187	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	187	ENSP00000351575:R187K	ENSP00000351575:R187K	R	+	2	0	BDP1	70793470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.855000	0.92236	2.501000	0.84356	0.557000	0.71058	AGA	BDP1	-	NULL	ENSG00000145734		0.294	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	26	0.00	0	G	NM_018429		70757714	70757714	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	A
BOD1L1	259282	genome.wustl.edu	37	4	13605856	13605856	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr4:13605856C>G	ENST00000040738.5	-	10	2803	c.2668G>C	c.(2668-2670)Gaa>Caa	p.E890Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	890	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										ACAACCTCTTCTGGTTTCAAA	0.368																																						dbGAP											0													107.0	106.0	106.0					4																	13605856		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2668G>C	4.37:g.13605856C>G	ENSP00000040738:p.Glu890Gln		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.E890Q	ENST00000040738.5	37	c.2668	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041551	0.55003	.	.	ENSG00000038219	ENST00000040738	T	0.10192	2.9	5.53	5.53	0.82687	.	0.000000	0.51477	D	0.000095	T	0.28896	0.0717	M	0.63843	1.955	0.30434	N	0.776855	D	0.89917	1.0	D	0.74674	0.984	T	0.04825	-1.0924	10	0.45353	T	0.12	-8.5176	13.7223	0.62735	0.0:0.926:0.0:0.074	.	890	Q8NFC6	BOD1L_HUMAN	Q	890	ENSP00000040738:E890Q	ENSP00000040738:E890Q	E	-	1	0	BOD1L	13214954	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	3.194000	0.51005	2.603000	0.88011	0.650000	0.86243	GAA	BOD1L1	-	NULL	ENSG00000038219		0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	66	0.00	0	C	NM_148894		13605856	13605856	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	G
BRD4	23476	genome.wustl.edu	37	19	15366988	15366988	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:15366988C>G	ENST00000263377.2	-	9	1859	c.1638G>C	c.(1636-1638)aaG>aaC	p.K546N	BRD4_ENST00000371835.4_Missense_Mutation_p.K546N|BRD4_ENST00000360016.5_Missense_Mutation_p.K546N|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	546	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tttcttttttcttttccttct	0.428			T	C15orf55	lethal midline carcinoma of young people																																	dbGAP		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													214.0	194.0	201.0					19																	15366988		2202	4300	6502	-	-	-	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1638G>C	19.37:g.15366988C>G	ENSP00000263377:p.Lys546Asn		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K546N	ENST00000263377.2	37	c.1638	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764715	0.69878	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.12879	2.64;2.64;2.64	5.55	3.41	0.39046	.	0.284418	0.29861	N	0.011004	T	0.28599	0.0708	M	0.66560	2.04	0.53005	D	0.999968	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.64144	0.922;0.882;0.922	T	0.03193	-1.1062	10	0.23891	T	0.37	-21.2776	11.3642	0.49662	0.0:0.8475:0.0:0.1525	.	546;546;546	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	546	ENSP00000263377:K546N;ENSP00000360901:K546N;ENSP00000353112:K546N	ENSP00000263377:K546N	K	-	3	2	BRD4	15227988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.974000	0.63771	1.358000	0.45922	0.561000	0.74099	AAG	BRD4	-	NULL	ENSG00000141867		0.428	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	212	0.00	0	C	NM_058243		15366988	15366988	-1	no_errors	ENST00000263377	ensembl	human	known	69_37n	missense	142	15.98	27	SNP	1.000	G
C7orf50	84310	genome.wustl.edu	37	7	1166897	1166897	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr7:1166897G>C	ENST00000397098.3	-	2	1051	c.125C>G	c.(124-126)tCc>tGc	p.S42C	C7orf50_ENST00000357429.6_Missense_Mutation_p.S42C|C7orf50_ENST00000397100.2_Missense_Mutation_p.S42C|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	42							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTTACCTTGGAGCCGGCTCC	0.602																																						dbGAP											0													49.0	43.0	45.0					7																	1166897		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.125C>G	7.37:g.1166897G>C	ENSP00000380286:p.Ser42Cys			Missense_Mutation	SNP	pfam_DUF2373	p.S42C	ENST00000397098.3	37	c.125	CCDS5320.1	7	.	.	.	.	.	.	.	.	.	.	G	6.845	0.525060	0.13066	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.51	-0.72	0.11195	.	1.688450	0.04004	N	0.297010	T	0.14442	0.0349	N	0.08118	0	0.09310	N	1	P	0.39576	0.679	B	0.31614	0.133	T	0.19582	-1.0301	9	0.59425	D	0.04	0.1417	6.4351	0.21819	0.5333:0.0:0.4667:0.0	.	42	Q9BRJ6	CG050_HUMAN	C	42	.	ENSP00000350011:S42C	S	-	2	0	C7orf50	1133423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.068000	0.11561	-0.147000	0.11254	-0.345000	0.07892	TCC	C7orf50	-	NULL	ENSG00000146540		0.602	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf50	HGNC	protein_coding	OTTHUMT00000322817.3	48	0.00	0	G	NM_032350		1166897	1166897	-1	no_errors	ENST00000357429	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.000	C
CACNA1A	773	genome.wustl.edu	37	19	13387897	13387897	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:13387897C>G	ENST00000360228.5	-	23	3867	c.3868G>C	c.(3868-3870)Gag>Cag	p.E1290Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1291Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1291					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCACCATCTCAAAGGTAAAG	0.453											OREG0025295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													108.0	97.0	100.0					19																	13387897		1912	4125	6037	-	-	-	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3868G>C	19.37:g.13387897C>G	ENSP00000353362:p.Glu1290Gln	687	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.E1290Q	ENST00000360228.5	37	c.3868	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423559	0.43020	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98807	-5.15	4.54	3.51	0.40186	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.98559	4.265	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.999;0.996;0.922	D	0.98397	1.0566	10	0.87932	D	0	.	11.4369	0.50072	0.0:0.909:0.0:0.091	.	1291;1294;1290	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	Q	1290;1294;1291;1291	ENSP00000353362:E1290Q	ENSP00000317661:E1291Q	E	-	1	0	CACNA1A	13248897	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.312000	0.78968	0.913000	0.36797	-0.229000	0.12294	GAG	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	62	0.00	0	C	NM_000068		13387897	13387897	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	missense	46	23.33	14	SNP	1.000	G
CACNA1H	8912	genome.wustl.edu	37	16	1254329	1254329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr16:1254329G>A	ENST00000348261.5	+	10	2570	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.W774*|CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.W774*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	774					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCCAGGCTGGATGGGCCGCC	0.692																																						dbGAP											0													17.0	19.0	19.0					16																	1254329		2046	4164	6210	-	-	-	SO:0001587	stop_gained	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2322G>A	16.37:g.1254329G>A	ENSP00000334198:p.Trp774*		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.W774*	ENST00000348261.5	37	c.2322	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819467	0.71028	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	4.21	-0.51	0.11973	.	14.284100	0.00639	U	0.000500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.8042	0.34927	0.1487:0.2278:0.6235:0.0	.	.	.	.	X	774	.	ENSP00000334198:W774X	W	+	3	0	CACNA1H	1194330	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.053000	0.14184	-0.178000	0.10672	-1.134000	0.01955	TGG	CACNA1H	-	NULL	ENSG00000196557		0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	12	0.00	0	G	NM_001005407		1254329	1254329	+1	no_errors	ENST00000348261	ensembl	human	known	69_37n	nonsense	7	50.00	7	SNP	0.000	A
CCDC108	255101	genome.wustl.edu	37	2	219895964	219895964	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:219895964C>T	ENST00000341552.5	-	8	962	c.879G>A	c.(877-879)ggG>ggA	p.G293G	CCDC108_ENST00000410037.1_Silent_p.G228G|CCDC108_ENST00000453220.1_Silent_p.G293G|CCDC108_ENST00000441968.1_Silent_p.G293G|CCDC108_ENST00000409865.3_Silent_p.G282G	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	293						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCAGGAGCCCCGTGGCGG	0.672																																						dbGAP											0													25.0	28.0	27.0					2																	219895964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.879G>A	2.37:g.219895964C>T			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.G293	ENST00000341552.5	37	c.879	CCDS2430.2	2																																																																																			CCDC108	-	superfamily_PapD-like	ENSG00000181378		0.672	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	21	0.00	0	C	NM_194302		219895964	219895964	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.466	T
CDC42BPA	8476	genome.wustl.edu	37	1	227261635	227261635	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:227261635C>T	ENST00000366769.3	-	19	3956	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.E889K|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.E889K|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.E889K|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.E808K|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.E889K|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.E889K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCTCTTATTTCTGCATCCAGA	0.393																																						dbGAP											0													151.0	149.0	150.0					1																	227261635		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2665G>A	1.37:g.227261635C>T	ENSP00000355731:p.Glu889Lys			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E889K	ENST00000366769.3	37	c.2665	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.754946|5.754946	0.96898|0.96898	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000441725	T;T;T;T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84;0.84;0.84;0.84|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82806|0.82806	0.5117|0.5117	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.998;0.998;0.999;0.999|.	D;D;D;D;D;D;D|.	0.91635|.	0.996;0.999;0.99;0.997;0.967;0.982;0.998|.	T|T	0.83168|0.83168	-0.0095|-0.0095	10|5	0.54805|.	T|.	0.06|.	.|.	19.8411|19.8411	0.96685|0.96685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	889;889;153;808;889;889;91|.	F5H5N0;Q5VT25-4;E9PEF7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.|.	K|K	889;808;889;889;889;153;889;889|91;182;62	ENSP00000355731:E889K;ENSP00000355729:E808K;ENSP00000335341:E889K;ENSP00000355728:E889K;ENSP00000355726:E889K;ENSP00000443275:E889K;ENSP00000355727:E889K|.	ENSP00000335341:E889K|.	E|R	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225328258|225328258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.378000|7.378000	0.79679|0.79679	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAA|AGA	CDC42BPA	-	pfam_Myotonic_dystrophy_kinase_coil	ENSG00000143776		0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	125	0.00	0	C	NM_014826		227261635	227261635	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	104	20.61	27	SNP	1.000	T
CHD7	55636	genome.wustl.edu	37	8	61765855	61765855	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr8:61765855G>C	ENST00000423902.2	+	31	7050	c.6571G>C	c.(6571-6573)Gaa>Caa	p.E2191Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2191	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGGGCAAAGAAGAGGAAGA	0.512																																						dbGAP											0													24.0	25.0	25.0					8																	61765855		1959	4153	6112	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6571G>C	8.37:g.61765855G>C	ENSP00000392028:p.Glu2191Gln		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2191Q	ENST00000423902.2	37	c.6571	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405870	0.25378	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.72394	-0.65	4.72	4.72	0.59763	.	0.705457	0.12994	N	0.422240	T	0.63236	0.2494	L	0.42245	1.32	0.33311	D	0.566091	B	0.15930	0.015	B	0.09377	0.004	T	0.61362	-0.7078	10	0.08179	T	0.78	-2.752	18.0678	0.89396	0.0:0.0:1.0:0.0	.	2191	Q9P2D1	CHD7_HUMAN	Q	2191	ENSP00000392028:E2191Q	ENSP00000307304:E2191Q	E	+	1	0	CHD7	61928409	1.000000	0.71417	0.391000	0.26233	0.459000	0.32528	4.986000	0.63851	2.351000	0.79841	0.655000	0.94253	GAA	CHD7	-	NULL	ENSG00000171316		0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	22	0.00	0	G	XM_098762		61765855	61765855	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.990	C
COL6A1	1291	genome.wustl.edu	37	21	47402592	47402592	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr21:47402592G>T	ENST00000361866.3	+	2	256	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	48	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTCTGAGAGCGTGGCCCTGAG	0.622																																						dbGAP											0													91.0	75.0	80.0					21																	47402592		2201	4300	6501	-	-	-	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.142G>T	21.37:g.47402592G>T	ENSP00000355180:p.Val48Leu		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V48L	ENST00000361866.3	37	c.142	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.190049	0.94923	.	.	ENSG00000142156	ENST00000361866;ENST00000538397;ENST00000546256	D	0.84146	-1.81	4.11	4.11	0.48088	von Willebrand factor, type A (3);	0.000000	0.64402	U	0.000004	D	0.91918	0.7441	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.92515	0.6020	10	0.49607	T	0.09	-12.3337	16.3518	0.83215	0.0:0.0:1.0:0.0	.	48	P12109	CO6A1_HUMAN	L	48	ENSP00000355180:V48L	ENSP00000355180:V48L	V	+	1	0	COL6A1	46227020	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	9.228000	0.95250	1.848000	0.53677	0.467000	0.42956	GTG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.622	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	27	0.00	0	G	NM_001848		47402592	47402592	+1	no_errors	ENST00000361866	ensembl	human	known	69_37n	missense	8	57.89	11	SNP	1.000	T
COL9A1	1297	genome.wustl.edu	37	6	70948982	70948982	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:70948982A>T	ENST00000357250.6	-	33	2245	c.2087T>A	c.(2086-2088)aTa>aAa	p.I696K	COL9A1_ENST00000320755.7_Missense_Mutation_p.I453K|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.I453K|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	696	Collagen-like 7.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGTAATCCTATATCTCCCTA	0.264																																						dbGAP											0													57.0	63.0	61.0					6																	70948982		2202	4295	6497	-	-	-	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2087T>A	6.37:g.70948982A>T	ENSP00000349790:p.Ile696Lys		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.I696K	ENST00000357250.6	37	c.2087	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330309	0.24167	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.83506	-1.73;-1.73;-1.73	5.45	3.04	0.35103	.	0.684962	0.16644	N	0.205486	T	0.46425	0.1392	N	0.05280	-0.08	0.40486	D	0.980494	P;B;B	0.39094	0.659;0.226;0.213	B;B;B	0.43301	0.415;0.076;0.075	T	0.47983	-0.9074	10	0.07482	T	0.82	.	7.4925	0.27471	0.8035:0.0:0.0692:0.1273	.	696;453;245	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	K	696;453;453	ENSP00000349790:I696K;ENSP00000315252:I453K;ENSP00000359530:I453K	ENSP00000315252:I453K	I	-	2	0	COL9A1	71005703	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	3.190000	0.50973	0.440000	0.26502	-0.344000	0.07964	ATA	COL9A1	-	pfam_Collagen	ENSG00000112280		0.264	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	34	0.00	0	A			70948982	70948982	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.983	T
CRMP1	1400	genome.wustl.edu	37	4	5830394	5830394	+	Splice_Site	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr4:5830394G>A	ENST00000397890.2	-	12	1497	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000324989.7_Splice_Site_p.A542V|CRMP1_ENST00000512574.1_Splice_Site_p.A426V|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	428					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTACTCCACCGCCTGCACCAA	0.502																																						dbGAP											0													100.0	68.0	79.0					4																	5830394		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1282-1C>T	4.37:g.5830394G>A			A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.A542V	ENST00000397890.2	37	c.1625	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640834	0.47153	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.74737	-0.87;-0.87;-0.87	4.43	4.43	0.53597	Metal-dependent hydrolase, composite domain (1);	0.056869	0.64402	D	0.000001	T	0.68155	0.2970	M	0.66378	2.025	0.58432	D	0.999997	B;P;B;D	0.53312	0.377;0.797;0.227;0.959	B;B;B;B	0.33042	0.017;0.038;0.007;0.157	T	0.76271	-0.3020	10	0.52906	T	0.07	-16.5885	16.2348	0.82365	0.0:0.0:1.0:0.0	.	542;426;428;365	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	V	542;428;428;426	ENSP00000321606:A542V;ENSP00000380987:A428V;ENSP00000425742:A426V	ENSP00000321606:A542V	A	-	2	0	CRMP1	5881295	1.000000	0.71417	0.877000	0.34402	0.267000	0.26476	9.184000	0.94893	2.303000	0.77524	0.561000	0.74099	GCG	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.502	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	47	0.00	0	G	NM_001313	Missense_Mutation	5830394	5830394	-1	no_errors	ENST00000324989	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	A
CTNNB1	1499	genome.wustl.edu	37	3	41280699	41280699	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr3:41280699G>A	ENST00000349496.5	+	15	2492	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	CTNNB1_ENST00000396185.3_Missense_Mutation_p.E738K|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E731K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.E738K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E738K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	738					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GATGGAACATGAGATGGGTGG	0.547		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	dbGAP		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													95.0	85.0	88.0					3																	41280699		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2212G>A	3.37:g.41280699G>A	ENSP00000344456:p.Glu738Lys		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo	p.E738K	ENST00000349496.5	37	c.2212	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003992	0.35320	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.68	5.68	0.88126	.	0.087464	0.85682	D	0.000000	T	0.45094	0.1325	L	0.49350	1.555	0.80722	D	1	B;B	0.28233	0.204;0.029	B;B	0.25614	0.062;0.015	T	0.28933	-1.0028	10	0.21014	T	0.42	0.0163	19.7949	0.96477	0.0:0.0:1.0:0.0	.	666;738	B4DSW9;P35222	.;CTNB1_HUMAN	K	738;738;738;731;738	ENSP00000385604:E738K;ENSP00000379486:E738K;ENSP00000344456:E738K;ENSP00000411226:E731K;ENSP00000379488:E738K	ENSP00000344456:E738K	E	+	1	0	CTNNB1	41255703	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.679000	0.91253	0.557000	0.71058	GAG	CTNNB1	-	NULL	ENSG00000168036		0.547	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	36	0.00	0	G	NM_001098210		41280699	41280699	+1	no_errors	ENST00000349496	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
CTSF	8722	genome.wustl.edu	37	11	66331579	66331579	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr11:66331579C>T	ENST00000310325.5	-	12	1469	c.1360G>A	c.(1360-1362)Ggc>Agc	p.G454S	CTSF_ENST00000533168.1_5'Flank|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	454				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCAGTGCCCCAGCTGTTC	0.617																																						dbGAP											0													68.0	62.0	64.0					11																	66331579		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1360G>A	11.37:g.66331579C>T	ENSP00000310832:p.Gly454Ser		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G454S	ENST00000310325.5	37	c.1360	CCDS8144.1	11	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027460	0.93518	.	.	ENSG00000174080	ENST00000310325	T	0.55588	0.51	4.91	4.91	0.64330	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.76727	2.345	0.80722	D	1	D	0.65815	0.995	D	0.85130	0.997	T	0.75761	-0.3204	10	0.87932	D	0	.	15.64	0.76989	0.0:1.0:0.0:0.0	.	454	Q9UBX1	CATF_HUMAN	S	454	ENSP00000310832:G454S	ENSP00000310832:G454S	G	-	1	0	CTSF	66088155	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.742000	0.74843	2.561000	0.86390	0.561000	0.74099	GGC	CTSF	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000174080		0.617	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1	50	0.00	0	C	NM_003793		66331579	66331579	-1	no_errors	ENST00000310325	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	T
DENND1A	57706	genome.wustl.edu	37	9	126345542	126345542	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr9:126345542C>G	ENST00000373624.2	-	12	974	c.773G>C	c.(772-774)aGa>aCa	p.R258T	DENND1A_ENST00000373620.3_Missense_Mutation_p.R258T|AL161790.1_ENST00000410790.1_RNA|DENND1A_ENST00000542603.1_Missense_Mutation_p.R42T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Missense_Mutation_p.R226T|DENND1A_ENST00000394215.2_Missense_Mutation_p.R228T|DENND1A_ENST00000394219.3_Missense_Mutation_p.R226T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	258	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCCATGTTTCTGACTTTCTG	0.517																																						dbGAP											0													159.0	136.0	144.0					9																	126345542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.773G>C	9.37:g.126345542C>G	ENSP00000362727:p.Arg258Thr		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R226T	ENST00000373624.2	37	c.677	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095561	0.56075	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	6.14	6.14	0.99180	DENN (3);	0.054972	0.64402	D	0.000001	T	0.22244	0.0536	M	0.61703	1.905	0.51233	D	0.999913	P;P;D;P;P;P;B	0.56287	0.533;0.723;0.975;0.837;0.948;0.588;0.423	B;B;P;P;P;B;B	0.54270	0.257;0.341;0.743;0.457;0.747;0.374;0.387	T	0.00046	-1.2213	10	0.49607	T	0.09	-11.9116	11.5872	0.50925	0.0:0.9202:0.0:0.0798	.	226;258;226;228;258;258;156	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3;Q9HCG4	.;.;.;.;.;DEN1A_HUMAN;.	T	258;42;226;258;228;226	ENSP00000362727:R258T;ENSP00000437457:R42T;ENSP00000377766:R226T;ENSP00000362722:R258T;ENSP00000377763:R228T;ENSP00000362720:R226T	ENSP00000362720:R226T	R	-	2	0	DENND1A	125385363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.739000	0.38217	2.937000	0.99478	0.650000	0.86243	AGA	DENND1A	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000119522		0.517	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	59	0.00	0	C	NM_024820		126345542	126345542	-1	no_errors	ENST00000394219	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	1.000	G
DIAPH3	81624	genome.wustl.edu	37	13	60545069	60545069	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr13:60545069G>A	ENST00000400324.4	-	16	2096	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	DIAPH3_ENST00000377908.2_Missense_Mutation_p.P615S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P580S|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P556S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P626S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P626S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	626	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATTGGTAGAGGAGGAGAATTT	0.458																																						dbGAP											0													57.0	61.0	60.0					13																	60545069		1868	4104	5972	-	-	-	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1876C>T	13.37:g.60545069G>A	ENSP00000383178:p.Pro626Ser		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.P626S	ENST00000400324.4	37	c.1876	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105740	0.56291	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.84660	-1.87;-1.88;-1.87;-1.83;-1.82;-1.82	5.27	4.39	0.52855	Actin-binding FH2 (1);	0.379360	0.29133	N	0.013059	D	0.90349	0.6980	M	0.72118	2.19	0.09310	N	1	D;B;D	0.69078	0.982;0.125;0.997	P;B;D	0.75484	0.763;0.149;0.986	T	0.82843	-0.0257	10	0.23302	T	0.38	.	13.3352	0.60515	0.0:0.0:0.7042:0.2958	.	363;363;626	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	S	626;626;615;580;556;615;556;580;626;363;626	ENSP00000383178:P626S;ENSP00000383184:P626S;ENSP00000367141:P615S;ENSP00000383173:P556S;ENSP00000383174:P580S;ENSP00000267215:P626S	ENSP00000267214:P363S	P	-	1	0	DIAPH3	59443070	0.998000	0.40836	0.043000	0.18650	0.916000	0.54674	2.230000	0.42999	1.148000	0.42385	0.655000	0.94253	CCT	DIAPH3	-	superfamily_FH2_actin-bd	ENSG00000139734		0.458	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	55	0.00	0	G	NM_001042517		60545069	60545069	-1	no_errors	ENST00000400324	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.208	A
DNAJC16	23341	genome.wustl.edu	37	1	15890821	15890821	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:15890821C>G	ENST00000375847.3	+	11	1729	c.1565C>G	c.(1564-1566)tCa>tGa	p.S522*	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.S522*|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.S522*	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	522					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GACTACATCTCAGACTGCTGG	0.413																																						dbGAP											0													161.0	150.0	154.0					1																	15890821		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1565C>G	1.37:g.15890821C>G	ENSP00000365007:p.Ser522*		Q68D57|Q86X32|Q8N5P4	Nonsense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.S522*	ENST00000375847.3	37	c.1565	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.523179	0.97633	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	.	.	.	6.14	5.21	0.72293	.	0.282155	0.41605	D	0.000860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.372	9.8526	0.41066	0.1417:0.7861:0.0:0.0721	.	.	.	.	X	522	.	ENSP00000364998:S522X	S	+	2	0	DNAJC16	15763408	0.998000	0.40836	0.630000	0.29268	0.355000	0.29361	5.002000	0.63952	1.580000	0.49851	0.650000	0.86243	TCA	DNAJC16	-	NULL	ENSG00000116138		0.413	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	102	0.00	0	C	NM_015291		15890821	15890821	+1	no_errors	ENST00000375847	ensembl	human	known	69_37n	nonsense	48	31.43	22	SNP	0.993	G
EMC2	9694	genome.wustl.edu	37	8	109462671	109462671	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr8:109462671G>A	ENST00000220853.3	+	3	204	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	57						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GATCATATATGAACAGGTGAT	0.303																																						dbGAP											0													189.0	184.0	186.0					8																	109462671		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.169G>A	8.37:g.109462671G>A	ENSP00000220853:p.Glu57Lys		Q8WUE1	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E57K	ENST00000220853.3	37	c.169	CCDS6309.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.042589|5.042589	0.93685|0.93685	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000524143;ENST00000220853|ENST00000519642	T|.	0.18960|.	2.18|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86674|0.86674	0.5989|0.5989	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	D|D	0.87886|0.87886	0.2681|0.2681	10|5	0.66056|.	D|.	0.02|.	-18.2228|-18.2228	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57|.	Q15006|.	TTC35_HUMAN|.	K|I	58;57|4	ENSP00000430122:E58K|.	ENSP00000220853:E57K|.	E|M	+|+	1|3	0|0	TTC35|TTC35	109531847|109531847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|ATG	EMC2	-	NULL	ENSG00000104412		0.303	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	HGNC	protein_coding	OTTHUMT00000380717.1	130	0.00	0	G	NM_014673		109462671	109462671	+1	no_errors	ENST00000220853	ensembl	human	known	69_37n	missense	142	11.80	19	SNP	1.000	A
OTULIN	90268	genome.wustl.edu	37	5	14693019	14693019	+	Silent	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr5:14693019C>G	ENST00000284274.4	+	7	999	c.921C>G	c.(919-921)ctC>ctG	p.L307L		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		307	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TGTACCGGCTCTCCAAGTACA	0.522																																						dbGAP											0													140.0	143.0	142.0					5																	14693019		2051	4201	6252	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000284274.4:c.921C>G	5.37:g.14693019C>G			D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	prints_FAM105	p.L39V	ENST00000284274.4	37	c.115	CCDS43302.1	5	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235109	0.22626	.	.	ENSG00000154124	ENST00000506417	T	0.19105	2.17	5.73	2.5	0.30297	.	0.070231	0.64402	D	0.000017	T	0.33089	0.0851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05225	-1.0898	7	0.49607	T	0.09	-19.2133	11.7735	0.51972	0.124:0.3568:0.5192:0.0	.	.	.	.	V	39	ENSP00000424966:L39V	ENSP00000424966:L39V	L	+	1	0	FAM105B	14746019	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	-0.052000	0.11865	0.614000	0.30107	0.655000	0.94253	CTC	FAM105B	-	prints_FAM105	ENSG00000154124		0.522	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	HGNC	protein_coding	OTTHUMT00000366012.1	47	0.00	0	C			14693019	14693019	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000506417	ensembl	human	novel	69_37n	missense	15	42.31	11	SNP	0.999	G
FAM115C	285966	genome.wustl.edu	37	7	143417083	143417083	+	Missense_Mutation	SNP	T	T	C	rs62486261		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr7:143417083T>C	ENST00000441159.2	+	3	997	c.931T>C	c.(931-933)Tgt>Cgt	p.C311R	FAM115C_ENST00000357344.4_Missense_Mutation_p.C311R|FAM115C_ENST00000409703.3_Missense_Mutation_p.C147R|FAM115C_ENST00000425618.2_Missense_Mutation_p.C30R|FAM115C_ENST00000411935.1_Missense_Mutation_p.C147R|FAM115C_ENST00000411497.2_Missense_Mutation_p.C30R|FAM115C_ENST00000444908.2_Missense_Mutation_p.C311R			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	311					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						AAAAGATCTGTGTCCTCTCCT	0.567																																						dbGAP											0													2.0	1.0	1.0					7																	143417083		121	275	396	-	-	-	SO:0001583	missense	0			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.931T>C	7.37:g.143417083T>C	ENSP00000404265:p.Cys311Arg		B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.C311R	ENST00000441159.2	37	c.931		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	3.201|3.201	-0.163625|-0.163625	0.06502|0.06502	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618|ENST00000518791	T;T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01;2.01|.	3.58|3.58	-3.76|-3.76	0.04359|0.04359	.|.	1.065300|.	0.07032|.	N|.	0.828672|.	T|T	0.34308|0.34308	0.0893|0.0893	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	P|P	1.0000000000287557E-6|1.0000000000287557E-6	P;B;B;B|.	0.42785|.	0.79;0.173;0.17;0.265|.	B;B;B;B|.	0.38020|.	0.263;0.045;0.052;0.098|.	T|T	0.39396|0.39396	-0.9616|-0.9616	9|4	0.26408|.	T|.	0.33|.	-0.2194|-0.2194	0.6288|0.6288	0.00791|0.00791	0.1771:0.2911:0.1682:0.3637|0.1771:0.2911:0.1682:0.3637	.|.	147;311;30;311|.	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2|.	.;F115C_HUMAN;.;.|.	R|A	311;30;311;311;147;147;30|125	ENSP00000412724:C311R;ENSP00000349902:C311R;ENSP00000404265:C311R;ENSP00000389100:C147R;ENSP00000386405:C147R|.	ENSP00000349902:C311R|.	C|V	+|+	1|2	0|0	FAM115C|FAM115C	143048016|143048016	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.564000|0.564000	0.35744|0.35744	-0.003000|-0.003000	0.12901|0.12901	-0.826000|-0.826000	0.04284|0.04284	0.338000|0.338000	0.21704|0.21704	TGT|GTG	FAM115C	-	NULL	ENSG00000170379		0.567	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	8	0.00	0	T	NM_173678		143417083	143417083	+1	no_errors	ENST00000441159	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.002	C
FBXW9	84261	genome.wustl.edu	37	19	12800969	12800969	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:12800969G>C	ENST00000380339.3	-	6	965	c.929C>G	c.(928-930)tCg>tGg	p.S310W	CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.S300W|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Intron|CTD-2659N19.2_ENST00000585742.1_RNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	310					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						AGAGCCCCTCGAAGGCCCCCC	0.627																																						dbGAP											0													34.0	41.0	39.0					19																	12800969		2177	4277	6454	-	-	-	SO:0001583	missense	0			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.929C>G	19.37:g.12800969G>C	ENSP00000369696:p.Ser310Trp		B3KVP7|Q9BT89	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S310W	ENST00000380339.3	37	c.929		19	.	.	.	.	.	.	.	.	.	.	G	8.352	0.831126	0.16820	.	.	ENSG00000132004	ENST00000380339	T	0.46451	0.87	3.79	-7.59	0.01308	.	7.027830	0.00465	N	0.000112	T	0.22513	0.0543	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09751	-1.0660	8	.	.	.	0.0528	6.5494	0.22425	0.5834:0.2296:0.187:0.0	.	300	Q5XUX1-2	.	W	310	ENSP00000369696:S310W	.	S	-	2	0	FBXW9	12661969	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.844000	0.04345	-1.592000	0.01619	-1.717000	0.00709	TCG	FBXW9	-	superfamily_WD40_repeat_dom	ENSG00000132004		0.627	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		29	0.00	0	G	NM_032301		12800969	12800969	-1	no_errors	ENST00000380339	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.000	C
FMNL2	114793	genome.wustl.edu	37	2	153496517	153496517	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:153496517C>T	ENST00000475377.2	+	11	1317	c.1117C>T	c.(1117-1119)Ctc>Ttc	p.L373F	FMNL2_ENST00000288670.9_Missense_Mutation_p.L998F			Q96PY5	FMNL2_HUMAN	formin-like 2	998	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGAACAAGCTCTCATGGAAAA	0.468																																						dbGAP											0													49.0	45.0	46.0					2																	153496517		1895	4093	5988	-	-	-	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1117C>T	2.37:g.153496517C>T	ENSP00000418959:p.Leu373Phe		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour	p.L998F	ENST00000475377.2	37	c.2992		2	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130233	0.37630	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.64618	-0.11;-0.11	4.93	4.93	0.64822	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	.	.	.	.	T	0.65780	0.2724	L	0.47716	1.5	0.46336	D	0.998998	P;P;P	0.46706	0.839;0.69;0.883	B;B;P	0.54346	0.202;0.359;0.749	T	0.67432	-0.5672	9	0.62326	D	0.03	.	9.9095	0.41397	0.0:0.8714:0.0:0.1286	.	998;479;998	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	F	998;479;373	ENSP00000288670:L998F;ENSP00000418959:L373F	ENSP00000288670:L998F	L	+	1	0	FMNL2	153204763	0.724000	0.28038	0.996000	0.52242	0.977000	0.68977	1.294000	0.33365	2.447000	0.82792	0.557000	0.71058	CTC	FMNL2	-	superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000157827		0.468	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333583.3	46	0.00	0	C	NM_052905		153496517	153496517	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.678	T
FNIP2	57600	genome.wustl.edu	37	4	159791486	159791486	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr4:159791486G>A	ENST00000264433.6	+	14	2889	c.2814G>A	c.(2812-2814)caG>caA	p.Q938Q	FNIP2_ENST00000379346.3_Silent_p.Q961Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	938					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCAGCACCCAGAATGTAAGGA	0.463																																						dbGAP											0													98.0	97.0	98.0					4																	159791486		2002	4184	6186	-	-	-	SO:0001819	synonymous_variant	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2814G>A	4.37:g.159791486G>A			Q05DC3|Q96I31|Q9H994	Silent	SNP	NULL	p.Q961	ENST00000264433.6	37	c.2883	CCDS47155.1	4																																																																																			FNIP2	-	NULL	ENSG00000052795		0.463	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	56	0.00	0	G	NM_020840		159791486	159791486	+1	no_errors	ENST00000379346	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.002	A
GABBR2	9568	genome.wustl.edu	37	9	101235526	101235526	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr9:101235526G>A	ENST00000259455.2	-	6	1360	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	301					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGGAGGCAGCGGGATGAGTTG	0.537																																						dbGAP											0													163.0	133.0	143.0					9																	101235526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.901C>T	9.37:g.101235526G>A	ENSP00000259455:p.Arg301Cys		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.R301C	ENST00000259455.2	37	c.901	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320857	0.81469	.	.	ENSG00000136928	ENST00000259455	T	0.22945	1.93	5.94	5.02	0.67125	Extracellular ligand-binding receptor (1);	0.264950	0.38959	N	0.001505	T	0.15046	0.0363	N	0.08118	0	0.46701	D	0.999163	P	0.50710	0.938	B	0.41088	0.347	T	0.03993	-1.0986	10	0.59425	D	0.04	.	14.4048	0.67075	0.0:0.0:0.8525:0.1475	.	301	O75899	GABR2_HUMAN	C	301	ENSP00000259455:R301C	ENSP00000259455:R301C	R	-	1	0	GABBR2	100275347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.511000	0.53400	2.820000	0.97059	0.650000	0.86243	CGC	GABBR2	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2	ENSG00000136928		0.537	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	75	0.00	0	G			101235526	101235526	-1	no_errors	ENST00000259455	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	A
GFPT2	9945	genome.wustl.edu	37	5	179757778	179757778	+	Silent	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr5:179757778C>G	ENST00000253778.8	-	6	625	c.456G>C	c.(454-456)ctG>ctC	p.L152L		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	152	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CATATTTAATCAGCTTGGCGA	0.443																																						dbGAP											0													214.0	194.0	201.0					5																	179757778		1994	4157	6151	-	-	-	SO:0001819	synonymous_variant	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.456G>C	5.37:g.179757778C>G			Q53XM2|Q9BWS4	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.L152	ENST00000253778.8	37	c.456	CCDS43411.1	5																																																																																			GFPT2	-	pfam_GATase_dom	ENSG00000131459		0.443	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	149	0.00	0	C	NM_005110		179757778	179757778	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	silent	88	15.38	16	SNP	1.000	G
SBNO2	22904	genome.wustl.edu	37	19	1106407	1106407	+	IGR	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:1106407C>T	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Silent_p.I170I|GPX4_ENST00000589115.1_Missense_Mutation_p.S162L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCCTCATCGACAAGAACG	0.652																																						dbGAP											0													56.0	64.0	61.0					19																	1106407		2035	4185	6220	-	-	-	SO:0001628	intergenic_variant	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1106407C>T			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Nonsense_Mutation	SNP	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold	p.R183*	ENST00000361757.3	37	c.547	CCDS45894.1	19																																																																																			GPX4	-	NULL	ENSG00000167468		0.652	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPX4	HGNC	protein_coding	OTTHUMT00000458065.2	29	0.00	0	C	NM_014963		1106407	1106407	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000593032	ensembl	human	novel	69_37n	nonsense	11	35.29	6	SNP	0.669	T
GRM3	2913	genome.wustl.edu	37	7	86415885	86415885	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr7:86415885G>A	ENST00000361669.2	+	3	1876	c.777G>A	c.(775-777)gtG>gtA	p.V259V	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Silent_p.V257V|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.V259V|GRM3_ENST00000536043.1_Silent_p.V131V|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	259					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACGACAGCGTGATCCGAGAAC	0.647																																					GBM(52;969 1098 3139 52280)	dbGAP											0													48.0	52.0	50.0					7																	86415885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.777G>A	7.37:g.86415885G>A			Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	p.V259	ENST00000361669.2	37	c.777	CCDS5600.1	7																																																																																			GRM3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt	ENSG00000198822		0.647	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	19	0.00	0	G			86415885	86415885	+1	no_errors	ENST00000361669	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	1.000	A
HIPK2	28996	genome.wustl.edu	37	7	139299077	139299077	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr7:139299077C>G	ENST00000406875.3	-	8	2039	c.1945G>C	c.(1945-1947)Gac>Cac	p.D649H	HIPK2_ENST00000342645.6_Missense_Mutation_p.D649H|HIPK2_ENST00000428878.2_Missense_Mutation_p.D622H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	649	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGAACGGGTCAGGCCGGGCA	0.617																																						dbGAP											0													41.0	48.0	46.0					7																	139299077		1970	4145	6115	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1945G>C	7.37:g.139299077C>G	ENSP00000385571:p.Asp649His		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D649H	ENST00000406875.3	37	c.1945		7	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976970	0.92982	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.54866	0.56;0.58;0.55	5.48	5.48	0.80851	.	.	.	.	.	T	0.75889	0.3911	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.78448	-0.2200	8	0.87932	D	0	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	649;622	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	649;622;649	ENSP00000385571:D649H;ENSP00000413724:D622H;ENSP00000343108:D649H	ENSP00000343108:D649H	D	-	1	0	HIPK2	138949617	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.776000	0.85560	2.724000	0.93272	0.563000	0.77884	GAC	HIPK2	-	NULL	ENSG00000064393		0.617	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	58	0.00	0	C	NM_022740		139299077	139299077	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	G
HLA-DQB2	3120	genome.wustl.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:32725559C>T	ENST00000437316.2	-	4	811	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	254					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.748G>A	6.37:g.32725559C>T	ENSP00000396330:p.Gly250Ser		A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.G250S	ENST00000437316.2	37	c.748		6	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.519393	0.00149	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00623	6.18;6.15	3.24	-1.21	0.09524	.	0.870743	0.09631	N	0.776240	T	0.00178	0.0005	.	.	.	0.21967	N	0.999447	B	0.10296	0.003	B	0.09377	0.004	T	0.22277	-1.0221	9	0.36615	T	0.2	.	4.3261	0.11041	0.0:0.2114:0.1703:0.6183	.	250	A2ADX3	.	S	250	ENSP00000396330:G250S;ENSP00000410512:G250S	ENSP00000410512:G250S	G	-	1	0	HLA-DQB2	32833537	0.000000	0.05858	0.134000	0.22075	0.023000	0.10783	0.266000	0.18534	-0.331000	0.08501	-1.846000	0.00573	GGT	HLA-DQB2	-	NULL	ENSG00000232629		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	HLA-DQB2	HGNC	protein_coding	OTTHUMT00000076216.2	25	0.00	0	C			32725559	32725559	-1	no_errors	ENST00000435145	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.392	T
HLA-DQB2	3120	genome.wustl.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His		A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.R247H	ENST00000437316.2	37	c.740		6	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT	HLA-DQB2	-	NULL	ENSG00000232629		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	HLA-DQB2	HGNC	protein_coding	OTTHUMT00000076216.2	25	0.00	0	C			32725567	32725567	-1	no_errors	ENST00000435145	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.030	T
HNF1A	6927	genome.wustl.edu	37	12	121426687	121426687	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr12:121426687C>A	ENST00000257555.6	+	2	604	c.378C>A	c.(376-378)caC>caA	p.H126Q	HNF1A_ENST00000543427.1_Missense_Mutation_p.H9Q|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.H126Q|HNF1A_ENST00000402929.1_Missense_Mutation_p.H126Q|HNF1A_ENST00000400024.2_Missense_Mutation_p.H126Q|HNF1A_ENST00000541395.1_Missense_Mutation_p.H126Q			P20823	HNF1A_HUMAN	HNF1 homeobox A	126					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCAGCAGCACAACATCCCAC	0.622									Hepatic Adenoma, Familial Clustering of																													dbGAP											0													163.0	125.0	138.0					12																	121426687		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.378C>A	12.37:g.121426687C>A	ENSP00000257555:p.His126Gln		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.H126Q	ENST00000257555.6	37	c.378	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866118	0.71949	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.99376	-5.79;-5.79;-5.79;-5.79	5.08	1.21	0.21127	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.64402	D	0.000001	D	0.99118	0.9696	M	0.76838	2.35	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99267	1.0892	10	0.87932	D	0	-24.059	8.9333	0.35684	0.0:0.6944:0.0:0.3056	.	126;126;126;126	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	Q	126;126;126;126;126;126;9;126;126;126;126;126	ENSP00000257555:H126Q;ENSP00000439721:H9Q;ENSP00000443112:H126Q;ENSP00000438804:H126Q	ENSP00000257555:H126Q	H	+	3	2	HNF1A	119911070	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.958000	0.40402	0.178000	0.19917	0.530000	0.56133	CAC	HNF1A	-	pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom	ENSG00000135100		0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5	45	0.00	0	C	NM_000545		121426687	121426687	+1	no_errors	ENST00000257555	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	A
IDH1	3417	genome.wustl.edu	37	2	209113243	209113243	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:209113243C>T	ENST00000415913.1	-	4	645	c.264G>A	c.(262-264)ttG>ttA	p.L88L	IDH1_ENST00000345146.2_Silent_p.L88L|IDH1_ENST00000446179.1_Silent_p.L88L	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	88					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ACATTTGTTTCAACTTGAACT	0.443			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0													169.0	143.0	151.0					2																	209113243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.264G>A	2.37:g.209113243C>T			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Silent	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	p.L88	ENST00000415913.1	37	c.264	CCDS2381.1	2																																																																																			IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	ENSG00000138413		0.443	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	109	0.00	0	C			209113243	209113243	-1	no_errors	ENST00000345146	ensembl	human	known	69_37n	silent	49	18.33	11	SNP	1.000	T
IL20RA	53832	genome.wustl.edu	37	6	137330612	137330612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:137330612C>A	ENST00000316649.5	-	4	656	c.421G>T	c.(421-423)Gag>Tag	p.E141*	IL20RA_ENST00000367748.1_Nonsense_Mutation_p.E30*|IL20RA_ENST00000367746.3_Nonsense_Mutation_p.E141*|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.E92*	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	141	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AGTGCCACCTCTGGTGGGCCA	0.433																																						dbGAP											0													81.0	79.0	80.0					6																	137330612		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.421G>T	6.37:g.137330612C>A	ENSP00000314976:p.Glu141*		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Nonsense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.E141*	ENST00000316649.5	37	c.421	CCDS5181.1	6	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895070	0.52121	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547;ENST00000367746	.	.	.	5.79	3.07	0.35406	.	0.604283	0.17559	N	0.169877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-1.1534	7.8824	0.29629	0.0:0.6778:0.0:0.3222	.	.	.	.	X	141;30;92;141	.	ENSP00000314976:E141X	E	-	1	0	IL20RA	137372305	0.106000	0.21978	0.277000	0.24703	0.013000	0.08279	0.339000	0.19875	0.377000	0.24735	0.655000	0.94253	GAG	IL20RA	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000016402		0.433	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RA	HGNC	protein_coding	OTTHUMT00000042393.1	43	0.00	0	C	NM_014432		137330612	137330612	-1	no_errors	ENST00000316649	ensembl	human	known	69_37n	nonsense	29	14.71	5	SNP	0.443	A
IGF2R	3482	genome.wustl.edu	37	6	160461698	160461698	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:160461698C>T	ENST00000356956.1	+	11	1570	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	474					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAGACCTCCTCTGCGGTGCCA	0.567																																						dbGAP											0													160.0	137.0	145.0					6																	160461698		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1422C>T	6.37:g.160461698C>T			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.L474	ENST00000356956.1	37	c.1422	CCDS5273.1	6																																																																																			IGF2R	-	pfam_CIMR	ENSG00000197081		0.567	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	33	0.00	0	C	NM_000876		160461698	160461698	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	T
ITGBL1	9358	genome.wustl.edu	37	13	102250555	102250555	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr13:102250555G>A	ENST00000376180.3	+	7	1140	c.921G>A	c.(919-921)ggG>ggA	p.G307G	ITGBL1_ENST00000545560.2_Silent_p.G166G|ITGBL1_ENST00000376162.3_Silent_p.G214G	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	307	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGGTATGGGAAGAAGTGTG	0.493																																						dbGAP											0													154.0	128.0	137.0					13																	102250555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.921G>A	13.37:g.102250555G>A			A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Silent	SNP	pfam_EGF_extracell,smart_EGF-like	p.G307	ENST00000376180.3	37	c.921	CCDS9499.1	13																																																																																			ITGBL1	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000198542		0.493	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	59	0.00	0	G	NM_004791		102250555	102250555	+1	no_errors	ENST00000376180	ensembl	human	known	69_37n	silent	30	16.67	6	SNP	0.999	A
KAL1	3730	genome.wustl.edu	37	X	8553307	8553307	+	Splice_Site	SNP	C	C	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:8553307C>A	ENST00000262648.3	-	6	1006		c.e6+1			NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGAAGACTGACCTTTGGAAGA	0.468																																						dbGAP											0													106.0	82.0	90.0					X																	8553307		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.856+1G>T	X.37:g.8553307C>A			B2RPF8	Splice_Site	SNP	-	e6+1	ENST00000262648.3	37	c.856+1	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903280	0.52333	.	.	ENSG00000011201	ENST00000262648	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1448	0.65344	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KAL1	8513307	1.000000	0.71417	0.980000	0.43619	0.533000	0.34776	6.423000	0.73361	1.488000	0.48433	0.594000	0.82650	.	KAL1	-	-	ENSG00000011201		0.468	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1	51	0.00	0	C	NM_000216	Intron	8553307	8553307	-1	no_errors	ENST00000262648	ensembl	human	known	69_37n	splice_site	26	27.78	10	SNP	1.000	A
KCNQ1	3784	genome.wustl.edu	37	11	2591933	2591933	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr11:2591933G>A	ENST00000155840.5	+	3	661	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	KCNQ1_ENST00000335475.5_Missense_Mutation_p.V58M	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	185					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CAGCAAGTACGTGGGCCTCTG	0.652																																						dbGAP											0													67.0	65.0	66.0					11																	2591933		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.553G>A	11.37:g.2591933G>A	ENSP00000155840:p.Val185Met		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.V185M	ENST00000155840.5	37	c.553	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736657	0.89482	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.97642	-4.47;-4.47;-4.47	4.4	4.4	0.53042	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	L	0.31476	0.935	0.54753	D	0.999989	P;P	0.50066	0.833;0.931	P;P	0.47162	0.54;0.539	D	0.95143	0.8265	10	0.49607	T	0.09	-28.9566	16.0646	0.80863	0.0:0.0:1.0:0.0	.	58;185	Q14D14;P51787	.;KCNQ1_HUMAN	M	98;185;58	ENSP00000434560:V98M;ENSP00000155840:V185M;ENSP00000334497:V58M	ENSP00000155840:V185M	V	+	1	0	KCNQ1	2548509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.938000	0.70170	2.446000	0.82766	0.478000	0.44815	GTG	KCNQ1	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ	ENSG00000053918		0.652	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	72	0.00	0	G	NM_000218		2591933	2591933	+1	no_errors	ENST00000155840	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	A
KRBA2	124751	genome.wustl.edu	37	17	8272527	8272527	+	Silent	SNP	G	G	A	rs572316984		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr17:8272527G>A	ENST00000331336.2	-	2	1409	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Silent_p.D386D	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	468					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CCATGTCATCGTCCATATCAG	0.512																																						dbGAP											0													153.0	137.0	143.0					17																	8272527		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1404C>T	17.37:g.8272527G>A			Q8IYY0	Silent	SNP	pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core	p.D468	ENST00000331336.2	37	c.1404	CCDS11141.1	17																																																																																			KRBA2	-	NULL	ENSG00000184619		0.512	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRBA2	HGNC	protein_coding	OTTHUMT00000256338.1	73	0.00	0	G	NM_213597		8272527	8272527	-1	no_errors	ENST00000331336	ensembl	human	known	69_37n	silent	26	25.71	9	SNP	0.000	A
KIAA0195	9772	genome.wustl.edu	37	17	73489641	73489641	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr17:73489641G>T	ENST00000314256.7	+	17	2550	c.2156G>T	c.(2155-2157)gGa>gTa	p.G719V	KIAA0195_ENST00000375248.5_Missense_Mutation_p.G729V|KIAA0195_ENST00000579208.1_Missense_Mutation_p.G370V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	719						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGGGACGGAGCTGACATC	0.612																																						dbGAP											0													113.0	104.0	107.0					17																	73489641		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2156G>T	17.37:g.73489641G>T	ENSP00000313885:p.Gly719Val		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.G719V	ENST00000314256.7	37	c.2156	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580164	0.46006	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.83992	-1.79;-1.79	5.55	4.58	0.56647	.	0.050768	0.85682	D	0.000000	D	0.90679	0.7076	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	P;D;D	0.73708	0.861;0.981;0.957	D	0.91859	0.5498	10	0.87932	D	0	-12.3913	14.1227	0.65201	0.0721:0.0:0.9279:0.0	.	729;729;719	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	V	719;729	ENSP00000313885:G719V;ENSP00000364397:G729V	ENSP00000313885:G719V	G	+	2	0	KIAA0195	71001236	1.000000	0.71417	0.629000	0.29254	0.966000	0.64601	9.759000	0.98931	1.341000	0.45600	0.561000	0.74099	GGA	KIAA0195	-	NULL	ENSG00000177728		0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	48	0.00	0	G	NM_014738		73489641	73489641	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	T
L1CAM	3897	genome.wustl.edu	37	X	153129444	153129444	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:153129444G>A	ENST00000370060.1	-	26	3540	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	L1CAM_ENST00000361981.3_Silent_p.F1112F|L1CAM_ENST00000543994.1_Silent_p.F1119F|L1CAM_ENST00000361699.4_Silent_p.F1117F|L1CAM_ENST00000370057.3_Silent_p.F1117F|L1CAM_ENST00000370055.1_Silent_p.F1112F|L1CAM_ENST00000538883.1_Silent_p.F1119F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1117				GF -> WLC (in Ref. 13; no nucleotide entry). {ECO:0000305}.	axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAGTGGCGAAGCCAGCAG	0.632																																						dbGAP											0													62.0	52.0	56.0					X																	153129444		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3351C>T	X.37:g.153129444G>A			A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1119	ENST00000370060.1	37	c.3357	CCDS14733.1	X																																																																																			L1CAM	-	NULL	ENSG00000198910		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	48	0.00	0	G	NM_024003		153129444	153129444	-1	no_errors	ENST00000543994	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.915	A
LGALS1	3956	genome.wustl.edu	37	22	38073045	38073045	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr22:38073045G>A	ENST00000215909.5	+	2	157	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	21	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTTCGAGTGCGAGGCGAGGTG	0.657																																					Pancreas(23;406 890 14304 26016)	dbGAP											0													88.0	68.0	75.0					22																	38073045		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.62G>A	22.37:g.38073045G>A	ENSP00000215909:p.Arg21Gln		B2R5E8|Q9UDK5	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.R21Q	ENST00000215909.5	37	c.62	CCDS13954.1	22	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790659	0.50102	.	.	ENSG00000100097	ENST00000215909	T	0.05447	3.44	5.39	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.348674	0.27345	N	0.019789	T	0.02649	0.0080	N	0.10916	0.065	0.29434	N	0.859657	B	0.18741	0.03	B	0.14578	0.011	T	0.37842	-0.9688	10	0.17369	T	0.5	-5.7596	3.9717	0.09455	0.1927:0.0:0.6184:0.1889	.	21	P09382	LEG1_HUMAN	Q	21	ENSP00000215909:R21Q	ENSP00000215909:R21Q	R	+	2	0	LGALS1	36402991	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	1.021000	0.30040	1.406000	0.46857	0.655000	0.94253	CGA	LGALS1	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000100097		0.657	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS1	HGNC	protein_coding	OTTHUMT00000319482.1	52	0.00	0	G	NM_002305		38073045	38073045	+1	no_errors	ENST00000215909	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.567	A
LILRB2	10288	genome.wustl.edu	37	19	54780306	54780306	+	Silent	SNP	C	C	T	rs367868114		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:54780306C>T	ENST00000391749.4	-	11	1759	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	LILRB2_ENST00000391748.1_Silent_p.Q495Q|LILRB2_ENST00000314446.5_Silent_p.Q495Q|LILRB2_ENST00000434421.1_Silent_p.Q380Q|LILRB2_ENST00000391746.1_Intron	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	496					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.Q496H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCCTTTCTCTGGGCTGGGG	0.587																																						dbGAP											1	Substitution - Missense(1)	lung(1)											14.0	17.0	16.0					19																	54780306		2053	4153	6206	-	-	-	SO:0001819	synonymous_variant	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1488G>A	19.37:g.54780306C>T			A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub	p.R172K	ENST00000391749.4	37	c.515	CCDS12886.1	19																																																																																			LILRB2	-	NULL	ENSG00000131042		0.587	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	35	0.00	0	C			54780306	54780306	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455108	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.004	T
LRGUK	136332	genome.wustl.edu	37	7	133863335	133863335	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr7:133863335G>A	ENST00000285928.2	+	10	1257	c.1188G>A	c.(1186-1188)gtG>gtA	p.V396V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	396						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCAACAGCGTGATGCAGCCGC	0.478																																						dbGAP											0													70.0	64.0	66.0					7																	133863335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1188G>A	7.37:g.133863335G>A			Q2M3I1	Silent	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.V396	ENST00000285928.2	37	c.1188	CCDS5830.1	7																																																																																			LRGUK	-	NULL	ENSG00000155530		0.478	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	35	0.00	0	G	NM_144648		133863335	133863335	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	1.000	A
LRP2	4036	genome.wustl.edu	37	2	170044543	170044543	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:170044543C>T	ENST00000263816.3	-	49	9550	c.9265G>A	c.(9265-9267)Gag>Aag	p.E3089K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3089	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCATCATCTCGATGCAGCGC	0.517																																						dbGAP											0													143.0	117.0	126.0					2																	170044543		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9265G>A	2.37:g.170044543C>T	ENSP00000263816:p.Glu3089Lys		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E3089K	ENST00000263816.3	37	c.9265	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987637	0.53934	.	.	ENSG00000081479	ENST00000263816	D	0.95238	-3.65	5.82	5.82	0.92795	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.325040	0.34110	N	0.004252	D	0.88262	0.6389	N	0.11698	0.16	0.80722	D	1	P	0.51147	0.942	B	0.40199	0.322	D	0.86843	0.2018	10	0.13853	T	0.58	.	20.0989	0.97860	0.0:1.0:0.0:0.0	.	3089	P98164	LRP2_HUMAN	K	3089	ENSP00000263816:E3089K	ENSP00000263816:E3089K	E	-	1	0	LRP2	169752789	0.849000	0.29639	0.947000	0.38551	0.074000	0.17049	1.978000	0.40598	2.764000	0.94973	0.650000	0.86243	GAG	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	44	0.00	0	C	NM_004525		170044543	170044543	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.906	T
MAP2	4133	genome.wustl.edu	37	2	210558835	210558835	+	Silent	SNP	T	T	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:210558835T>C	ENST00000360351.4	+	7	2447	c.1941T>C	c.(1939-1941)gaT>gaC	p.D647D	MAP2_ENST00000447185.1_Silent_p.D643D|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	647					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCCATCAGATTTACCTGAAG	0.433																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													66.0	66.0	66.0					2																	210558835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1941T>C	2.37:g.210558835T>C			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.D647	ENST00000360351.4	37	c.1941	CCDS2384.1	2																																																																																			MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.433	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	46	0.00	0	T	NM_001039538		210558835	210558835	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	0.000	C
MAP2K4	6416	genome.wustl.edu	37	17	12044531	12044531	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr17:12044531T>C	ENST00000353533.5	+	11	1217	c.1154T>C	c.(1153-1155)cTg>cCg	p.L385P	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L396P	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	385	DVD domain.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGTAAAATCCTGGATCAAATG	0.408			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Unknown(2)	ovary(4)|breast(4)|pancreas(2)|biliary_tract(1)|lung(1)											150.0	129.0	136.0					17																	12044531		2203	4299	6502	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1154T>C	17.37:g.12044531T>C	ENSP00000262445:p.Leu385Pro		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L396P	ENST00000353533.5	37	c.1187	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801920	0.70682	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.74002	-0.72;-0.8	5.53	4.44	0.53790	Protein kinase-like domain (1);	0.139093	0.50627	D	0.000117	D	0.83936	0.5362	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.938;0.994;0.987	D	0.85025	0.0914	10	0.87932	D	0	.	11.8368	0.52330	0.0:0.0:0.1469:0.8531	.	257;396;385	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	P	385;396;362;257	ENSP00000262445:L385P;ENSP00000410402:L396P	ENSP00000262445:L385P	L	+	2	0	MAP2K4	11985256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.864000	0.87037	1.083000	0.41159	0.528000	0.53228	CTG	MAP2K4	-	superfamily_Kinase-like_dom	ENSG00000065559		0.408	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	77	0.00	0	T			12044531	12044531	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	16	54.29	19	SNP	1.000	C
MAP2K6	5608	genome.wustl.edu	37	17	67537883	67537883	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr17:67537883C>A	ENST00000590474.1	+	12	1281	c.994C>A	c.(994-996)Ctt>Att	p.L332I	MAP2K6_ENST00000589647.1_Missense_Mutation_p.L276I	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	332	DVD domain.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					AAAACTGATTCTTGGAGACTA	0.393																																						dbGAP											0													121.0	112.0	115.0					17																	67537883		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.994C>A	17.37:g.67537883C>A	ENSP00000468348:p.Leu332Ile			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L332I	ENST00000590474.1	37	c.994	CCDS11686.1	17	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482358	0.63962	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.54	4.55	0.56014	.	0.000000	0.64402	D	0.000001	T	0.65544	0.2701	L	0.45470	1.425	0.52099	D	0.999949	D	0.56521	0.976	D	0.76575	0.988	T	0.63871	-0.6539	8	.	.	.	-11.087	8.0872	0.30780	0.1759:0.745:0.0:0.0791	.	332	P52564	MP2K6_HUMAN	I	332	.	.	L	+	1	0	MAP2K6	65049478	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.283000	0.43470	1.395000	0.46643	0.655000	0.94253	CTT	MAP2K6	-	NULL	ENSG00000108984		0.393	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K6	HGNC	protein_coding	OTTHUMT00000450689.1	56	0.00	0	C	NM_002758		67537883	67537883	+1	no_errors	ENST00000590474	ensembl	human	known	69_37n	missense	22	54.17	26	SNP	1.000	A
MDM1	56890	genome.wustl.edu	37	12	68716927	68716927	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr12:68716927G>C	ENST00000303145.7	-	5	813	c.727C>G	c.(727-729)Cca>Gca	p.P243A	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank|MDM1_ENST00000411698.2_Missense_Mutation_p.P198A	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	243					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCTTTCACTGGAGATAAACCC	0.328																																						dbGAP											0													137.0	135.0	136.0					12																	68716927		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.727C>G	12.37:g.68716927G>C	ENSP00000302537:p.Pro243Ala		B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.P243A	ENST00000303145.7	37	c.727	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023942	0.54683	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.25912	1.77;1.77;1.77	4.58	4.58	0.56647	.	0.121518	0.56097	D	0.000035	T	0.50735	0.1633	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.50575	-0.8812	9	.	.	.	-11.8643	15.4449	0.75223	0.0:0.1392:0.8607:0.0	.	198;243	E7EPQ3;Q8TC05	.;MDM1_HUMAN	A	243;198;238	ENSP00000302537:P243A;ENSP00000391006:P198A;ENSP00000446000:P238A	.	P	-	1	0	MDM1	67003194	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.098000	0.50259	2.495000	0.84180	0.491000	0.48974	CCA	MDM1	-	NULL	ENSG00000111554		0.328	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	129	0.00	0	G	NM_020128		68716927	68716927	-1	no_errors	ENST00000303145	ensembl	human	known	69_37n	missense	84	16.00	16	SNP	1.000	C
MKI67	4288	genome.wustl.edu	37	10	129913274	129913274	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr10:129913274T>G	ENST00000368654.3	-	7	1773	c.1398A>C	c.(1396-1398)aaA>aaC	p.K466N	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	466					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGTGCCCAATTTCTCAGGCT	0.413																																						dbGAP											0													145.0	143.0	144.0					10																	129913274		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1398A>C	10.37:g.129913274T>G	ENSP00000357643:p.Lys466Asn		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K466N	ENST00000368654.3	37	c.1398	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977649	0.53720	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01584	4.75	4.0	-1.54	0.08584	.	0.616875	0.15833	N	0.242399	T	0.01905	0.0060	L	0.32530	0.975	0.09310	N	1	P	0.47841	0.901	P	0.47075	0.536	T	0.45264	-0.9273	10	0.87932	D	0	.	3.3216	0.07052	0.1923:0.3383:0.0:0.4694	.	466	P46013	KI67_HUMAN	N	466	ENSP00000357643:K466N	ENSP00000357643:K466N	K	-	3	2	MKI67	129803264	0.001000	0.12720	0.001000	0.08648	0.122000	0.20287	0.051000	0.14141	-0.351000	0.08249	0.533000	0.62120	AAA	MKI67	-	NULL	ENSG00000148773		0.413	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	64	0.00	0	T	NM_002417		129913274	129913274	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	G
MNAT1	4331	genome.wustl.edu	37	14	61434964	61434964	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr14:61434964G>C	ENST00000261245.4	+	8	928	c.827G>C	c.(826-828)aGa>aCa	p.R276T	RP11-193F5.1_ENST00000553946.1_RNA|MNAT1_ENST00000539616.2_Missense_Mutation_p.R234T	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	276					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		AACCATGTCAGAGCTGCCTCA	0.393								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													131.0	119.0	123.0					14																	61434964		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.827G>C	14.37:g.61434964G>C	ENSP00000261245:p.Arg276Thr		G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	pirsf_MAT1_metazoa,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1	p.R276T	ENST00000261245.4	37	c.827	CCDS9750.1	14	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296113	0.81025	.	.	ENSG00000020426	ENST00000261245;ENST00000539616;ENST00000557134	T;T;T	0.62639	0.65;0.4;0.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81550	0.4846	M	0.82716	2.605	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.82719	-0.0318	10	0.52906	T	0.07	-9.7943	19.3674	0.94469	0.0:0.0:1.0:0.0	.	234;276	G3V1U8;P51948	.;MAT1_HUMAN	T	276;234;136	ENSP00000261245:R276T;ENSP00000446437:R234T;ENSP00000451017:R136T	ENSP00000261245:R276T	R	+	2	0	MNAT1	60504717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.201000	0.95017	2.567000	0.86603	0.650000	0.86243	AGA	MNAT1	-	pirsf_MAT1_metazoa,tigrfam_MAT1	ENSG00000020426		0.393	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNAT1	HGNC	protein_coding	OTTHUMT00000276956.1	65	0.00	0	G	NM_002431		61434964	61434964	+1	no_errors	ENST00000261245	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	1.000	C
MUC2	4583	genome.wustl.edu	37	11	1093757	1093757	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr11:1093757C>T	ENST00000441003.2	+	30	5603	c.5576C>T	c.(5575-5577)cCt>cTt	p.P1859L	MUC2_ENST00000333592.6_Missense_Mutation_p.P147L|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4221					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTCAACCCCTCAGACCTCT	0.617																																						dbGAP											0													265.0	313.0	297.0					11																	1093757		2153	4240	6393	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5576C>T	11.37:g.1093757C>T	ENSP00000415183:p.Pro1859Leu		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1859L	ENST00000441003.2	37	c.5576		11	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363357	0.24684	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.11712	2.75;3.07	1.81	1.81	0.25067	.	.	.	.	.	T	0.08179	0.0204	L	0.29908	0.895	0.09310	N	1	P	0.41524	0.753	B	0.41332	0.354	T	0.29912	-0.9996	9	0.17832	T	0.49	.	8.5241	0.33293	0.0:1.0:0.0:0.0	.	1859	E7EUV1	.	L	1859;147	ENSP00000415183:P1859L;ENSP00000331373:P147L	ENSP00000331373:P147L	P	+	2	0	MUC2	1083757	0.009000	0.17119	0.009000	0.14445	0.016000	0.09150	2.086000	0.41643	1.024000	0.39682	0.305000	0.20034	CCT	MUC2	-	NULL	ENSG00000198788		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	69	0.00	0	C	NM_002457		1093757	1093757	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	0.035	T
MYO1A	4640	genome.wustl.edu	37	12	57436929	57436929	+	Missense_Mutation	SNP	C	C	T	rs376700544		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr12:57436929C>T	ENST00000442789.2	-	13	1312	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	MYO1A_ENST00000300119.3_Missense_Mutation_p.R342Q|MYO1A_ENST00000544473.1_Missense_Mutation_p.R180Q	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	342	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGGCGTCCCGAGCATACTG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18902	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													118.0	103.0	108.0					12																	57436929		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1025G>A	12.37:g.57436929C>T	ENSP00000393392:p.Arg342Gln		Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R342Q	ENST00000442789.2	37	c.1025	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.608990	0.96637	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473;ENST00000492945	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.17	5.17	0.71159	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89949	0.6863	H	0.94306	3.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92142	0.5721	10	0.87932	D	0	.	16.5838	0.84722	0.0:1.0:0.0:0.0	.	342	Q9UBC5	MYO1A_HUMAN	Q	342;342;180;38	ENSP00000300119:R342Q;ENSP00000393392:R342Q;ENSP00000440514:R180Q;ENSP00000452229:R38Q	ENSP00000300119:R342Q	R	-	2	0	MYO1A	55723196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.729000	0.62008	2.861000	0.98227	0.655000	0.94253	CGG	MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000166866		0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	80	0.00	0	C	NM_005379		57436929	57436929	-1	no_errors	ENST00000300119	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	T
NADK	65220	genome.wustl.edu	37	1	1688035	1688035	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:1688035C>T	ENST00000341426.5	-	5	627	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	NADK_ENST00000492768.1_5'UTR|NADK_ENST00000342348.5_Missense_Mutation_p.V104M|NADK_ENST00000378625.1_Missense_Mutation_p.V281M|NADK_ENST00000341991.3_Missense_Mutation_p.V136M|NADK_ENST00000344463.4_Missense_Mutation_p.V281M	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	136					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCCACATACACGATCATGTTC	0.542																																						dbGAP											0													133.0	111.0	118.0					1																	1688035		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.406G>A	1.37:g.1688035C>T	ENSP00000341679:p.Val136Met		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_polyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.V281M	ENST00000341426.5	37	c.841	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094397	0.76870	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.48201	0.82;0.82;0.85;0.85;0.82;0.82	5.77	4.86	0.63082	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.94063	3.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.986;0.983;0.998;0.997	T	0.82481	-0.0436	10	0.87932	D	0	-32.6742	13.5109	0.61511	0.0:0.9243:0.0:0.0757	.	104;281;281;136	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	M	136;136;281;281;104;104	ENSP00000341679:V136M;ENSP00000344340:V136M;ENSP00000367890:V281M;ENSP00000340925:V281M;ENSP00000339727:V104M;ENSP00000383713:V104M	ENSP00000341679:V136M	V	-	1	0	NADK	1677895	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	7.444000	0.80532	1.455000	0.47813	0.561000	0.74099	GTG	NADK	-	superfamily_ATP-NAD_kinase_PpnK-typ	ENSG00000008130		0.542	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	44	0.00	0	C	NM_023018		1688035	1688035	-1	no_errors	ENST00000344463	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	T
NBPF1	55672	genome.wustl.edu	37	1	16901095	16901095	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:16901095G>C	ENST00000430580.2	-	21	3172	c.2285C>G	c.(2284-2286)tCc>tGc	p.S762C	NBPF1_ENST00000287968.8_Missense_Mutation_p.S127C|NBPF1_ENST00000432949.1_Missense_Mutation_p.S220C|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	762	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGGCTGGTTGGAGTCATAAGG	0.473																																						dbGAP											0													5.0	6.0	6.0					1																	16901095		1073	2118	3191	-	-	-	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2285C>G	1.37:g.16901095G>C	ENSP00000474456:p.Ser762Cys		Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	144	0.00	0	G	NM_017940		16901095	16901095	-1	no_errors	ENST00000287968	ensembl	human	known	69_37n	rna	89	25.21	30	SNP	0.005	C
NCOA3	8202	genome.wustl.edu	37	20	46271054	46271054	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr20:46271054C>T	ENST00000371998.3	+	17	3369	c.3178C>T	c.(3178-3180)Ctt>Ttt	p.L1060F	NCOA3_ENST00000372004.3_Missense_Mutation_p.L1060F|NCOA3_ENST00000341724.6_Missense_Mutation_p.L990F|NCOA3_ENST00000371997.3_Missense_Mutation_p.L1055F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1060	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTGCACACTCTTCTCAGCAA	0.488																																						dbGAP											0													157.0	137.0	144.0					20																	46271054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3178C>T	20.37:g.46271054C>T	ENSP00000361066:p.Leu1060Phe		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.L1060F	ENST00000371998.3	37	c.3178	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072044	0.36566	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02121	4.51;4.62;4.63;4.44	5.62	5.62	0.85841	Nuclear receptor coactivator, interlocking (1);Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.000000	0.64402	D	0.000008	T	0.02533	0.0077	N	0.20986	0.625	0.50632	D	0.999882	B;P;B;B;B;B	0.34562	0.087;0.457;0.087;0.087;0.071;0.18	B;B;B;B;B;B	0.37451	0.17;0.244;0.17;0.17;0.106;0.25	T	0.63457	-0.6633	10	0.40728	T	0.16	-10.0845	12.8761	0.57991	0.0:0.8839:0.0:0.1161	.	1060;1055;1064;1060;1060;1060	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	F	1060;990;1060;1060;1055	ENSP00000342123:L990F;ENSP00000361073:L1060F;ENSP00000361066:L1060F;ENSP00000361065:L1055F	ENSP00000345671:L1060F	L	+	1	0	NCOA3	45704461	0.372000	0.25064	0.110000	0.21437	0.997000	0.91878	0.944000	0.29043	2.801000	0.96364	0.650000	0.86243	CTT	NCOA3	-	pfam_Nuc_rcpt_coact_Ncoa-typ,superfamily_Nuc_rcpt_coact,pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.488	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	85	0.00	0	C	NM_006534		46271054	46271054	+1	no_errors	ENST00000371998	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	0.691	T
NF1	4763	genome.wustl.edu	37	17	29556189	29556189	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr17:29556189C>T	ENST00000358273.4	+	21	2939	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L	NF1_ENST00000356175.3_Silent_p.L852L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	852					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.C845_Q853>*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAGTGTGCCTCCAGCAGAGAA	0.507			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Complex - deletion inframe(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											39.0	37.0	38.0					17																	29556189		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2556C>T	17.37:g.29556189C>T			O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L852	ENST00000358273.4	37	c.2556	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.507	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	30	0.00	0	C	NM_000267		29556189	29556189	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.979	T
NLRP7	199713	genome.wustl.edu	37	19	55451233	55451233	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:55451233G>A	ENST00000590030.1	-	3	994	c.954C>T	c.(952-954)taC>taT	p.Y318Y	NLRP7_ENST00000448121.2_Silent_p.Y318Y|NLRP7_ENST00000592784.1_Silent_p.Y318Y|NLRP7_ENST00000446217.1_Silent_p.Y346Y|NLRP7_ENST00000340844.2_Silent_p.Y318Y|NLRP7_ENST00000588756.1_Silent_p.Y318Y|NLRP7_ENST00000328092.5_Silent_p.Y318Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	318	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCACCCTTACGTAGATCGGCT	0.597																																						dbGAP											0													38.0	41.0	40.0					19																	55451233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.954C>T	19.37:g.55451233G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Y346	ENST00000590030.1	37	c.1038	CCDS33109.1	19																																																																																			NLRP7	-	pfscan_NACHT_NTPase	ENSG00000167634		0.597	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	30	0.00	0	G	NM_139176		55451233	55451233	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.000	A
OR51D1	390038	genome.wustl.edu	37	11	4661647	4661647	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr11:4661647G>A	ENST00000357605.2	+	1	703	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGTCAATGTGGTTTATGGAC	0.468																																						dbGAP											0													294.0	245.0	262.0					11																	4661647		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.627G>A	11.37:g.4661647G>A			B9EIK4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V209	ENST00000357605.2	37	c.627	CCDS31357.1	11																																																																																			OR51D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197428		0.468	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	171	0.00	0	G	NM_001004751		4661647	4661647	+1	no_errors	ENST00000357605	ensembl	human	known	69_37n	silent	82	21.15	22	SNP	0.004	A
OR5D14	219436	genome.wustl.edu	37	11	55563055	55563055	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr11:55563055G>A	ENST00000335605.1	+	1	24	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TAAGGAATCTGAGCATGGAGC	0.403																																						dbGAP											0													98.0	98.0	98.0					11																	55563055		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.24G>A	11.37:g.55563055G>A			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L8	ENST00000335605.1	37	c.24	CCDS31508.1	11																																																																																			OR5D14	-	NULL	ENSG00000186113		0.403	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	39	0.00	0	G	NM_001004735		55563055	55563055	+1	no_errors	ENST00000335605	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.001	A
OR5K3	403277	genome.wustl.edu	37	3	98110426	98110426	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr3:98110426G>A	ENST00000383695.1	+	1	917	c.917G>A	c.(916-918)aGa>aAa	p.R306K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGAAGAAGAGAAAATTTTGT	0.274																																						dbGAP											0													33.0	38.0	36.0					3																	98110426		2105	4215	6320	-	-	-	SO:0001583	missense	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.917G>A	3.37:g.98110426G>A	ENSP00000373194:p.Arg306Lys			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R306K	ENST00000383695.1	37	c.917	CCDS33803.1	3	.	.	.	.	.	.	.	.	.	.	G	0.157	-1.085483	0.01873	.	.	ENSG00000206536	ENST00000383695	T	0.36340	1.26	4.31	-8.63	0.00878	.	1.844770	0.03096	N	0.160485	T	0.14614	0.0353	N	0.04787	-0.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38067	-0.9678	10	0.02654	T	1	12.3577	11.9416	0.52905	0.1866:0.0:0.7115:0.1018	.	306	A6NET4	OR5K3_HUMAN	K	306	ENSP00000373194:R306K	ENSP00000373194:R306K	R	+	2	0	OR5K3	99593116	0.020000	0.18652	0.000000	0.03702	0.097000	0.18754	0.381000	0.20619	-2.392000	0.00585	-0.478000	0.04885	AGA	OR5K3	-	NULL	ENSG00000206536		0.274	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	19	0.00	0	G			98110426	98110426	+1	no_errors	ENST00000383695	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.000	A
OSCAR	126014	genome.wustl.edu	37	19	54598516	54598516	+	3'UTR	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:54598516C>G	ENST00000284648.6	-	0	1473				OSCAR_ENST00000351806.4_Missense_Mutation_p.Q243H|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000358375.4_Missense_Mutation_p.Q254H|OSCAR_ENST00000356532.3_Missense_Mutation_p.Q258H			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							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)					GAGCGCGGTTCTGACTGCGCC	0.677																																						dbGAP											0													22.0	25.0	24.0					19																	54598516		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_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.*427G>C	19.37:g.54598516C>G			B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	smart_Ig_sub	p.Q258H	ENST00000284648.6	37	c.774		19	.	.	.	.	.	.	.	.	.	.	.	13.92	2.381741	0.42207	.	.	ENSG00000170909	ENST00000356532;ENST00000358375;ENST00000351806	T;T;T	0.00525	6.89;6.89;6.81	3.29	2.18	0.27775	.	.	.	.	.	T	0.00695	0.0023	.	.	.	0.09310	N	0.999997	B;P;P	0.45348	0.083;0.856;0.836	B;B;P	0.52217	0.028;0.35;0.693	T	0.56074	-0.8039	8	0.35671	T	0.21	.	8.7168	0.34416	0.0:0.7637:0.2363:0.0	.	243;254;258	Q8IYS5-6;Q8IYS5-2;Q8IYS5-3	.;.;.	H	258;254;243	ENSP00000348927:Q258H;ENSP00000351145:Q254H;ENSP00000304523:Q243H	ENSP00000304523:Q243H	Q	-	3	2	OSCAR	59290328	0.000000	0.05858	0.002000	0.10522	0.071000	0.16799	-0.078000	0.11375	0.623000	0.30267	0.456000	0.33151	CAG	OSCAR	-	NULL	ENSG00000170909		0.677	OSCAR-001	NOVEL	basic	protein_coding	OSCAR	HGNC	protein_coding	OTTHUMT00000139493.4	31	0.00	0	C	NM_133169		54598516	54598516	-1	no_errors	ENST00000356532	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.004	G
PCBP2	5094	genome.wustl.edu	37	12	53854905	53854906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr12:53854905_53854906insT	ENST00000439930.3	+	6	504_505	c.482_483insT	c.(481-486)cagatcfs	p.QI161fs	PCBP2_ENST00000455667.3_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000359282.5_Frame_Shift_Ins_p.QI161fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000552296.2_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000437231.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.QI161fs|PCBP2_ENST00000541275.1_Frame_Shift_Ins_p.QI161fs			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	161	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGTGTCAAACAGATCTGCGTGG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	Exception_encountered	12.37:g.53854905_53854906insT	ENSP00000408949:p.Gln161fs		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.Q161fs	ENST00000439930.3	37	c.482_483	CCDS44901.1	12																																																																																			PCBP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000197111		0.525	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	HGNC	protein_coding	OTTHUMT00000407545.2	81	0.00	0	-	NM_005016		53854905	53854906	+1	no_errors	ENST00000546463	ensembl	human	known	69_37n	frame_shift_ins	26	43.48	20	INS	1.000:1.000	T
PCDHA9	9752	genome.wustl.edu	37	5	140228399	140228399	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr5:140228399G>A	ENST00000532602.1	+	1	1352	c.319G>A	c.(319-321)Gag>Aag	p.E107K	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.E107K|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTGGAGGTGATCGT	0.547																																					Melanoma(55;1800 1972 14909)	dbGAP											0													106.0	86.0	93.0					5																	140228399		2185	4217	6402	-	-	-	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.319G>A	5.37:g.140228399G>A	ENSP00000436042:p.Glu107Lys		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E107K	ENST00000532602.1	37	c.319	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855443	0.91355	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.30448	1.53;1.53	4.13	4.13	0.48395	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.747384	0.09737	U	0.762448	T	0.60130	0.2245	M	0.82630	2.6	0.34999	D	0.755795	D;D	0.76494	0.999;0.997	D;P	0.69142	0.962;0.903	T	0.67791	-0.5579	10	0.87932	D	0	.	15.0903	0.72188	0.0:0.0:1.0:0.0	.	107;107	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	K	107	ENSP00000436042:E107K;ENSP00000367362:E107K	ENSP00000367362:E107K	E	+	1	0	PCDHA9	140208583	0.020000	0.18652	1.000000	0.80357	0.962000	0.63368	0.259000	0.18405	2.263000	0.75096	0.591000	0.81541	GAG	PCDHA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.547	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	54	0.00	0	G	NM_031857		140228399	140228399	+1	no_errors	ENST00000532602	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	A
PCDHB4	56131	genome.wustl.edu	37	5	140503864	140503864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr5:140503864G>T	ENST00000194152.1	+	1	2284	c.2284G>T	c.(2284-2286)Gag>Tag	p.E762*		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	762					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGACTGGTGAGTTCAAGTT	0.532																																						dbGAP											0													90.0	98.0	95.0					5																	140503864		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2284G>T	5.37:g.140503864G>T	ENSP00000194152:p.Glu762*		Q4V761	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E762*	ENST00000194152.1	37	c.2284	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.937133	0.97948	.	.	ENSG00000081818	ENST00000194152	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.5005	0.87730	0.0:0.0:1.0:0.0	.	.	.	.	X	762	.	ENSP00000194152:E762X	E	+	1	0	PCDHB4	140484048	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	3.918000	0.56432	2.533000	0.85409	0.561000	0.74099	GAG	PCDHB4	-	NULL	ENSG00000081818		0.532	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	39	0.00	0	G	NM_018938		140503864	140503864	+1	no_errors	ENST00000194152	ensembl	human	known	69_37n	nonsense	19	20.83	5	SNP	1.000	T
PCIF1	63935	genome.wustl.edu	37	20	44574946	44574946	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr20:44574946C>T	ENST00000372409.3	+	14	1900	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	512					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642																																						dbGAP											0													127.0	117.0	120.0					20																	44574946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1536C>T	20.37:g.44574946C>T			E1P5P1|Q54AB9|Q9NT85	Silent	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.F512	ENST00000372409.3	37	c.1536	CCDS13388.1	20																																																																																			PCIF1	-	pfam_PCIF1_WW	ENSG00000100982		0.642	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	52	0.00	0	C	NM_022104		44574946	44574946	+1	no_errors	ENST00000372409	ensembl	human	known	69_37n	silent	33	19.51	8	SNP	0.897	T
PCIF1	63935	genome.wustl.edu	37	20	44576059	44576059	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr20:44576059C>G	ENST00000372409.3	+	16	2229	c.1865C>G	c.(1864-1866)tCc>tGc	p.S622C	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	622					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CGCAGTGGCTCCCAGCACATC	0.657																																						dbGAP											0													41.0	37.0	38.0					20																	44576059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1865C>G	20.37:g.44576059C>G	ENSP00000361486:p.Ser622Cys		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S622C	ENST00000372409.3	37	c.1865	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815192	0.70912	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.03	5.03	0.67393	.	0.196730	0.44285	D	0.000470	T	0.63977	0.2557	L	0.44542	1.39	0.53005	D	0.999968	D;D	0.63880	0.993;0.993	P;P	0.55391	0.775;0.775	T	0.62048	-0.6936	9	0.38643	T	0.18	-30.1299	17.5281	0.87807	0.0:1.0:0.0:0.0	.	622;622	B7Z5U5;Q9H4Z3	.;PCIF1_HUMAN	C	622	.	ENSP00000361486:S622C	S	+	2	0	PCIF1	44009466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.864000	0.69575	2.616000	0.88540	0.455000	0.32223	TCC	PCIF1	-	NULL	ENSG00000100982		0.657	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	22	0.00	0	C	NM_022104		44576059	44576059	+1	no_errors	ENST00000372409	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	G
PDS5B	23047	genome.wustl.edu	37	13	33315238	33315238	+	Silent	SNP	T	T	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr13:33315238T>G	ENST00000315596.10	+	22	2613	c.2427T>G	c.(2425-2427)acT>acG	p.T809T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	809					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAGACAACTAAACTTTGGG	0.299																																						dbGAP											0													96.0	88.0	90.0					13																	33315238		1800	4058	5858	-	-	-	SO:0001819	synonymous_variant	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2427T>G	13.37:g.33315238T>G			Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	superfamily_ARM-type_fold	p.T809	ENST00000315596.10	37	c.2427	CCDS41878.1	13																																																																																			PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.299	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	45	0.00	0	T	NM_015032		33315238	33315238	+1	no_errors	ENST00000315596	ensembl	human	known	69_37n	silent	40	11.11	5	SNP	0.986	G
PGK1	5230	genome.wustl.edu	37	X	77369391	77369391	+	Silent	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:77369391G>A	ENST00000373316.4	+	3	434	c.267G>A	c.(265-267)ctG>ctA	p.L89L	PGK1_ENST00000537456.1_Silent_p.L61L|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	89					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	AATCTCTGCTGGGCAAGTAAG	0.512																																						dbGAP											0													81.0	76.0	77.0					X																	77369391		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.267G>A	X.37:g.77369391G>A			A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.L89	ENST00000373316.4	37	c.267	CCDS14438.1	X																																																																																			PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase	ENSG00000102144		0.512	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	56	0.00	0	G			77369391	77369391	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	silent	36	10.00	4	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	45	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	32	37.25	19	SNP	1.000	G
POLR3E	55718	genome.wustl.edu	37	16	22337485	22337485	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr16:22337485C>T	ENST00000299853.5	+	18	1919	c.1752C>T	c.(1750-1752)ctC>ctT	p.L584L	POLR3E_ENST00000418581.2_Silent_p.L548L|POLR3E_ENST00000359210.4_Silent_p.L584L|POLR3E_ENST00000564209.1_Silent_p.L584L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	584					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TCAAGCGCCTCTTCAATCTGC	0.637																																						dbGAP											0													29.0	33.0	32.0					16																	22337485		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1752C>T	16.37:g.22337485C>T			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.L584	ENST00000299853.5	37	c.1752	CCDS10605.1	16																																																																																			POLR3E	-	NULL	ENSG00000058600		0.637	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	20	0.00	0	C	NM_018119		22337485	22337485	+1	no_errors	ENST00000299853	ensembl	human	known	69_37n	silent	15	28.57	6	SNP	1.000	T
PPP1R13B	23368	genome.wustl.edu	37	14	104263855	104263855	+	Splice_Site	SNP	T	T	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr14:104263855T>A	ENST00000202556.9	-	2	292	c.10A>T	c.(10-12)Atg>Ttg	p.M4L	SNORD51_ENST00000365405.1_RNA	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	4					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTTAATATCATCTGTAAGACA	0.368																																						dbGAP											0													58.0	53.0	55.0					14																	104263855		1833	4095	5928	-	-	-	SO:0001630	splice_region_variant	0			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.10-1A>T	14.37:g.104263855T>A			B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.M4L	ENST00000202556.9	37	c.10	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917111	0.52546	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	T;T;T	0.76839	-1.05;-1.05;-1.05	5.19	5.19	0.71726	.	0.127483	0.64402	D	0.000001	T	0.77025	0.4070	L	0.52011	1.625	0.80722	D	1	B	0.28128	0.201	B	0.36335	0.222	T	0.77498	-0.2565	10	0.72032	D	0.01	.	15.3238	0.74144	0.0:0.0:0.0:1.0	.	4	Q96KQ4	ASPP1_HUMAN	L	4;1;4	ENSP00000202556:M4L;ENSP00000452376:M1L;ENSP00000450734:M4L	ENSP00000202556:M4L	M	-	1	0	PPP1R13B	103333608	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.091000	0.71406	2.084000	0.62774	0.260000	0.18958	ATG	PPP1R13B	-	NULL	ENSG00000088808		0.368	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	53	0.00	0	T	NM_015316	Missense_Mutation	104263855	104263855	-1	no_errors	ENST00000202556	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
PRPF40A	55660	genome.wustl.edu	37	2	153533228	153533228	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr2:153533228A>C	ENST00000410080.1	-	10	1263	c.722T>G	c.(721-723)aTg>aGg	p.M241R		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	268					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CATGGTGCTCATTGTGGTCGG	0.502																																						dbGAP											0													95.0	94.0	94.0					2																	153533228		1592	3164	4756	-	-	-	SO:0001583	missense	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.722T>G	2.37:g.153533228A>C	ENSP00000386458:p.Met241Arg		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1	p.M241R	ENST00000410080.1	37	c.722	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128710	0.37533	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856;ENST00000493468	T	0.29655	1.56	5.26	5.26	0.73747	.	0.370369	0.30285	N	0.009980	T	0.15652	0.0377	N	0.08118	0	0.38495	D	0.948088	B;B;B	0.34161	0.312;0.439;0.042	B;B;B	0.34489	0.036;0.114;0.184	T	0.20240	-1.0281	10	0.16420	T	0.52	-10.458	11.5469	0.50698	1.0:0.0:0.0:0.0	.	268;250;241	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	R	241;250;137;188;268;243	ENSP00000386458:M241R	ENSP00000348770:M250R	M	-	2	0	PRPF40A	153241474	0.985000	0.35326	0.998000	0.56505	0.843000	0.47879	1.731000	0.38135	1.982000	0.57802	0.455000	0.32223	ATG	PRPF40A	-	NULL	ENSG00000196504		0.502	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	180	0.00	0	A	XM_371575		153533228	153533228	-1	no_errors	ENST00000410080	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	1.000	C
RBBP6	5930	genome.wustl.edu	37	16	24579150	24579150	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr16:24579150G>A	ENST00000319715.4	+	16	2422	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	664					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTTACAAATGATTTTGCTAA	0.323																																						dbGAP											0													68.0	74.0	72.0					16																	24579150		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1990G>A	16.37:g.24579150G>A	ENSP00000317872:p.Asp664Asn		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.D664N	ENST00000319715.4	37	c.1990	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301420	0.60195	.	.	ENSG00000122257	ENST00000319715	T	0.35789	1.29	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000016	T	0.48909	0.1526	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.31530	-0.9940	10	0.27082	T	0.32	-22.3832	19.7176	0.96129	0.0:0.0:1.0:0.0	.	664	Q7Z6E9	RBBP6_HUMAN	N	664	ENSP00000317872:D664N	ENSP00000317872:D664N	D	+	1	0	RBBP6	24486651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.670000	0.90874	0.563000	0.77884	GAT	RBBP6	-	NULL	ENSG00000122257		0.323	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	46	0.00	0	G	NM_006910		24579150	24579150	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	A
RGS3	5998	genome.wustl.edu	37	9	116247927	116247927	+	Nonsense_Mutation	SNP	C	C	T	rs547113494		TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr9:116247927C>T	ENST00000374140.2	+	8	852	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	RGS3_ENST00000350696.5_Nonsense_Mutation_p.Q215*|RGS3_ENST00000317613.6_Nonsense_Mutation_p.Q103*	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	215	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAGGATGATCAGAAGCGTCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17309	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													109.0	91.0	97.0					9																	116247927		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.643C>T	9.37:g.116247927C>T	ENSP00000363255:p.Gln215*		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q215*	ENST00000374140.2	37	c.643	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862538	0.71949	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613	.	.	.	4.66	3.74	0.42951	.	0.300757	0.27084	N	0.021009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	10.8197	0.46597	0.0:0.8083:0.1917:0.0	.	.	.	.	X	215;215;103	.	ENSP00000312844:Q103X	Q	+	1	0	RGS3	115287748	0.983000	0.35010	0.982000	0.44146	0.991000	0.79684	2.629000	0.46485	1.293000	0.44690	0.561000	0.74099	CAG	RGS3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000138835		0.547	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	78	0.00	0	C	NM_017790		116247927	116247927	+1	no_errors	ENST00000350696	ensembl	human	known	69_37n	nonsense	50	12.28	7	SNP	0.974	T
RNGTT	8732	genome.wustl.edu	37	6	89638949	89638949	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:89638949G>A	ENST00000369485.4	-	3	398	c.212C>T	c.(211-213)tCa>tTa	p.S71L	RNGTT_ENST00000538899.1_Missense_Mutation_p.S11L|RNGTT_ENST00000369475.3_Missense_Mutation_p.S71L|RNGTT_ENST00000265607.6_Missense_Mutation_p.S71L	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	71	TPase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATAGAACCTTGAAGTATTTGT	0.274																																						dbGAP											0													38.0	40.0	39.0					6																	89638949		2201	4288	6489	-	-	-	SO:0001583	missense	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.212C>T	6.37:g.89638949G>A	ENSP00000358497:p.Ser71Leu		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.S71L	ENST00000369485.4	37	c.212	CCDS5017.1	6	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534740	0.45073	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;T;D	0.84873	-1.91;-1.91;1.82;-1.91	5.96	5.96	0.96718	Dual specificity phosphatase, catalytic domain (1);	0.155567	0.56097	D	0.000027	T	0.79639	0.4480	M	0.62016	1.91	0.43334	D	0.995375	B;B;B;B	0.26445	0.049;0.149;0.123;0.064	B;B;B;B	0.29716	0.082;0.106;0.064;0.066	T	0.76305	-0.3008	10	0.39692	T	0.17	.	16.6585	0.85235	0.0:0.0:0.8698:0.1302	.	11;71;71;71	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	L	71;71;11;42;71	ENSP00000358497:S71L;ENSP00000265607:S71L;ENSP00000442609:S11L;ENSP00000358487:S71L	ENSP00000265607:S71L	S	-	2	0	RNGTT	89695668	1.000000	0.71417	0.999000	0.59377	0.441000	0.31987	5.126000	0.64721	2.830000	0.97506	0.655000	0.94253	TCA	RNGTT	-	pfam_Dual-sp_phosphatase_cat-dom,pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.274	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	16	0.00	0	G			89638949	89638949	-1	no_errors	ENST00000369485	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	0.997	A
SCML1	6322	genome.wustl.edu	37	X	17768235	17768235	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:17768235C>T	ENST00000380041.3	+	6	853	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SCML1_ENST00000380045.3_Silent_p.L54L|SCML1_ENST00000398080.1_Silent_p.L54L|SCML1_ENST00000380043.3_Silent_p.L148L	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	175					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					ACCCGATCCTCAGCCGCACTC	0.522																																						dbGAP											0													115.0	102.0	106.0					X																	17768235		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.525C>T	X.37:g.17768235C>T			B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L175	ENST00000380041.3	37	c.525	CCDS35210.1	X																																																																																			SCML1	-	NULL	ENSG00000047634		0.522	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	45	0.00	0	C	NM_006746		17768235	17768235	+1	no_errors	ENST00000380041	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	0.000	T
SLC6A5	9152	genome.wustl.edu	37	11	20636348	20636348	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr11:20636348G>T	ENST00000525748.1	+	6	1382	c.1109G>T	c.(1108-1110)gGa>gTa	p.G370V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	370					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTTGTCAGTGGAAGTGAAGAG	0.378																																						dbGAP											0													173.0	158.0	163.0					11																	20636348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1109G>T	11.37:g.20636348G>T	ENSP00000434364:p.Gly370Val		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.G370V	ENST00000525748.1	37	c.1109	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944094	0.53079	.	.	ENSG00000165970	ENST00000525748	T	0.74632	-0.86	5.71	5.71	0.89125	.	0.162995	0.56097	D	0.000040	T	0.71567	0.3355	N	0.19112	0.55	0.80722	D	1	P	0.45768	0.866	P	0.48873	0.593	T	0.75216	-0.3396	10	0.66056	D	0.02	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	370	Q9Y345	SC6A5_HUMAN	V	370	ENSP00000434364:G370V	ENSP00000434364:G370V	G	+	2	0	SLC6A5	20592924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.426000	0.73374	2.697000	0.92050	0.591000	0.81541	GGA	SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000165970		0.378	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	61	0.00	0	G	NM_004211		20636348	20636348	+1	no_errors	ENST00000525748	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84453665	84453665	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr13:84453665C>T	ENST00000377084.2	-	1	2863	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	660					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAATTAATCTCGGACGCGGAG	0.552																																						dbGAP											0													76.0	68.0	71.0					13																	84453665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1978G>A	13.37:g.84453665C>T	ENSP00000366288:p.Glu660Lys		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E660K	ENST00000377084.2	37	c.1978	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508984	0.64410	.	.	ENSG00000178235	ENST00000377084	T	0.59638	0.25	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	N	0.08118	0	0.80722	D	1	D	0.61080	0.989	P	0.49561	0.615	T	0.58842	-0.7565	10	0.72032	D	0.01	-9.1915	17.3561	0.87336	0.0:1.0:0.0:0.0	.	660	Q96PX8	SLIK1_HUMAN	K	660	ENSP00000366288:E660K	ENSP00000366288:E660K	E	-	1	0	SLITRK1	83351666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.756000	0.94617	0.655000	0.94253	GAG	SLITRK1	-	NULL	ENSG00000178235		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	32	0.00	0	C	NM_052910		84453665	84453665	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	T
SMARCA1	6594	genome.wustl.edu	37	X	128602783	128602783	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:128602783C>A	ENST00000371122.4	-	21	2794	c.2665G>T	c.(2665-2667)Ggc>Tgc	p.G889C	SMARCA1_ENST00000371123.1_Missense_Mutation_p.G877C|SMARCA1_ENST00000371121.3_Missense_Mutation_p.G877C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	889	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGGGATTTGCCCTCTACCTCT	0.338																																						dbGAP											0													139.0	121.0	127.0					X																	128602783		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2665G>T	X.37:g.128602783C>A	ENSP00000360163:p.Gly889Cys		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G889C	ENST00000371122.4	37	c.2665	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474673	0.84640	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91945	-2.94;-2.94;-2.93;-2.92	5.39	5.39	0.77823	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.64402	D	0.000004	D	0.96901	0.8988	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.99;0.99;0.996;0.99	D	0.97660	1.0160	10	0.87932	D	0	-7.706	18.4378	0.90653	0.0:1.0:0.0:0.0	.	868;889;877;889	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	877;877;889;868	ENSP00000360162:G877C;ENSP00000360164:G877C;ENSP00000360163:G889C;ENSP00000404275:G868C	ENSP00000360162:G877C	G	-	1	0	SMARCA1	128430464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.617000	0.83032	2.381000	0.81170	0.600000	0.82982	GGC	SMARCA1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000102038		0.338	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	79	0.00	0	C	NM_003069		128602783	128602783	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	1.000	A
TAOK1	57551	genome.wustl.edu	37	17	27818872	27818872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr17:27818872G>T	ENST00000261716.3	+	10	1339	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.E274*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TACATCAGAGGAACTTTTAAA	0.378																																						dbGAP											0													83.0	84.0	84.0					17																	27818872		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.820G>T	17.37:g.27818872G>T	ENSP00000261716:p.Glu274*		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E274*	ENST00000261716.3	37	c.820	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.682588	0.99237	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	.	.	.	5.19	5.19	0.71726	.	0.099352	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	19.0727	0.93147	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000261716:E274X	E	+	1	0	TAOK1	24842998	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.746000	0.98859	2.590000	0.87494	0.455000	0.32223	GAA	TAOK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000160551		0.378	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	52	0.00	0	G	NM_020791		27818872	27818872	+1	no_errors	ENST00000261716	ensembl	human	known	69_37n	nonsense	44	21.43	12	SNP	1.000	T
TMEM117	84216	genome.wustl.edu	37	12	44238546	44238546	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr12:44238546C>T	ENST00000266534.3	+	2	219	c.92C>T	c.(91-93)gCg>gTg	p.A31V	TMEM117_ENST00000551577.1_Missense_Mutation_p.A31V|TMEM117_ENST00000536799.1_5'Flank	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	31						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTAATATTTGCGGAGGACCCA	0.393																																						dbGAP											0													168.0	167.0	167.0					12																	44238546		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.92C>T	12.37:g.44238546C>T	ENSP00000266534:p.Ala31Val			Missense_Mutation	SNP	NULL	p.A31V	ENST00000266534.3	37	c.92	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.573422	0.96553	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.56444	0.46;0.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.71133	-0.4681	10	0.54805	T	0.06	-13.2772	19.9019	0.96988	0.0:1.0:0.0:0.0	.	31;31	F8VS00;Q9H0C3	.;TM117_HUMAN	V	31	ENSP00000448595:A31V;ENSP00000266534:A31V	ENSP00000266534:A31V	A	+	2	0	TMEM117	42524813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.732000	0.84908	2.781000	0.95711	0.650000	0.86243	GCG	TMEM117	-	NULL	ENSG00000139173		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	93	0.00	0	C	NM_032256		44238546	44238546	+1	no_errors	ENST00000266534	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	1.000	T
TNRC6B	23112	genome.wustl.edu	37	22	40704525	40704525	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr22:40704525C>T	ENST00000454349.2	+	16	4341	c.4130C>T	c.(4129-4131)tCt>tTt	p.S1377F	TNRC6B_ENST00000335727.9_Missense_Mutation_p.S1267F|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S573F|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S573F	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1377	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGCTTCAGCTCTGGCGGCATG	0.507																																						dbGAP											0													161.0	161.0	161.0					22																	40704525		1934	4158	6092	-	-	-	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4130C>T	22.37:g.40704525C>T	ENSP00000401946:p.Ser1377Phe		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.S1377F	ENST00000454349.2	37	c.4130	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313501	0.81358	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.32988	1.43;1.43;2.65;2.67	5.87	5.87	0.94306	.	0.250039	0.44097	D	0.000493	T	0.48205	0.1487	L	0.33485	1.01	0.47476	D	0.99943	D;D;D;D	0.71674	0.997;0.99;0.994;0.998	D;D;D;D	0.79108	0.988;0.974;0.989;0.992	T	0.38286	-0.9668	10	0.56958	D	0.05	-7.323	20.206	0.98277	0.0:1.0:0.0:0.0	.	1377;1267;1267;573	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.;.	F	573;573;1377;1267;1267	ENSP00000306759:S573F;ENSP00000384795:S573F;ENSP00000401946:S1377F;ENSP00000338371:S1267F	ENSP00000306759:S573F	S	+	2	0	TNRC6B	39034471	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.716000	0.54904	2.785000	0.95823	0.655000	0.94253	TCT	TNRC6B	-	NULL	ENSG00000100354		0.507	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		82	0.00	0	C			40704525	40704525	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	53	15.87	10	SNP	1.000	T
TSPYL2	64061	genome.wustl.edu	37	X	53114174	53114174	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chrX:53114174C>T	ENST00000375442.4	+	4	1168	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	346					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CCGCTGGCACCGGGGCCAGGA	0.592																																						dbGAP											0													38.0	41.0	40.0					X																	53114174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1036C>T	X.37:g.53114174C>T	ENSP00000364591:p.Arg346Trp		O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.R346W	ENST00000375442.4	37	c.1036	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499244	0.64298	.	.	ENSG00000184205	ENST00000375442	T	0.29142	1.58	3.33	3.33	0.38152	.	0.000000	0.37393	N	0.002120	T	0.42359	0.1199	L	0.35644	1.08	0.51233	D	0.999914	D	0.89917	1.0	D	0.87578	0.998	T	0.25950	-1.0117	10	0.46703	T	0.11	-31.1349	11.8304	0.52293	0.0:1.0:0.0:0.0	.	346	Q9H2G4	TSYL2_HUMAN	W	346	ENSP00000364591:R346W	ENSP00000364591:R346W	R	+	1	2	TSPYL2	53130899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.388000	0.44398	1.930000	0.55929	0.513000	0.50165	CGG	TSPYL2	-	pfam_NAP_family	ENSG00000184205		0.592	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	25	0.00	0	C	NM_022117		53114174	53114174	+1	no_errors	ENST00000375442	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	T
WDR7	23335	genome.wustl.edu	37	18	54354174	54354174	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr18:54354174C>T	ENST00000254442.3	+	7	897	c.686C>T	c.(685-687)tCa>tTa	p.S229L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.S229L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	229					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACACAAAGGTCACTTTTGGTT	0.328																																						dbGAP											0													82.0	77.0	79.0					18																	54354174		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.686C>T	18.37:g.54354174C>T	ENSP00000254442:p.Ser229Leu		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S229L	ENST00000254442.3	37	c.686	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021888	0.54576	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.58210	0.35;0.35	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.143577	0.46758	D	0.000276	T	0.36413	0.0966	N	0.21373	0.66	0.58432	D	0.999994	B;B	0.25441	0.006;0.126	B;B	0.18871	0.022;0.023	T	0.28170	-1.0052	10	0.05620	T	0.96	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	229;229	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	229	ENSP00000254442:S229L;ENSP00000350187:S229L	ENSP00000254442:S229L	S	+	2	0	WDR7	52505172	0.970000	0.33590	1.000000	0.80357	0.997000	0.91878	3.715000	0.54897	2.498000	0.84270	0.650000	0.86243	TCA	WDR7	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat	ENSG00000091157		0.328	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	77	0.00	0	C			54354174	54354174	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	T
XPR1	9213	genome.wustl.edu	37	1	180651527	180651527	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:180651527A>G	ENST00000367590.4	+	2	299	c.101A>G	c.(100-102)gAc>gGc	p.D34G	XPR1_ENST00000367589.3_Missense_Mutation_p.D34G	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	34	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCAGCTCAGGACCAGGCACCT	0.338																																						dbGAP											0													106.0	112.0	110.0					1																	180651527		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.101A>G	1.37:g.180651527A>G	ENSP00000356562:p.Asp34Gly		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.D34G	ENST00000367590.4	37	c.101	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432236	0.83776	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.45668	0.89	5.71	5.71	0.89125	SPX, N-terminal (2);	0.163975	0.50627	D	0.000109	T	0.48132	0.1483	N	0.25647	0.755	0.58432	D	0.999999	D;P	0.55172	0.97;0.607	P;B	0.58454	0.839;0.3	T	0.50215	-0.8854	10	0.66056	D	0.02	-4.7187	15.331	0.74212	1.0:0.0:0.0:0.0	.	34;34	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	G	34	ENSP00000356562:D34G	ENSP00000356561:D34G	D	+	2	0	XPR1	178918150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.277000	0.72608	2.323000	0.78572	0.529000	0.55759	GAC	XPR1	-	pfam_SPX_N	ENSG00000143324		0.338	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	25	0.00	0	A	NM_004736		180651527	180651527	+1	no_errors	ENST00000367590	ensembl	human	known	69_37n	missense	29	38.30	18	SNP	1.000	G
ZNF461	92283	genome.wustl.edu	37	19	37129791	37129791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:37129791G>A	ENST00000588268.1	-	6	1683	c.1456C>T	c.(1456-1458)Caa>Taa	p.Q486*	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Nonsense_Mutation_p.Q463*	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q359E(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTGATGTTGAATAAGGTGT	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	73.0	72.0					19																	37129791		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1456C>T	19.37:g.37129791G>A	ENSP00000467931:p.Gln486*		A8K9W9|Q6VSF7|Q9ULZ8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q486*	ENST00000588268.1	37	c.1456	CCDS54257.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.654510	0.96724	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605;ENST00000396892	.	.	.	3.48	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.51233	D	0.999911	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	5.8209	0.18526	0.0:0.1594:0.4396:0.401	.	.	.	.	X	486;217;463;359;180	.	ENSP00000353515:Q463X	Q	-	1	0	ZNF461	41821631	0.000000	0.05858	0.227000	0.23927	0.975000	0.68041	-1.402000	0.02499	0.782000	0.33613	0.491000	0.48974	CAA	ZNF461	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.393	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	48	0.00	0	G	NM_153257		37129791	37129791	-1	no_errors	ENST00000588268	ensembl	human	known	69_37n	nonsense	44	13.73	7	SNP	0.001	A
ZNF461	92283	genome.wustl.edu	37	19	37129879	37129879	+	Silent	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:37129879G>C	ENST00000588268.1	-	6	1595	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.L433L	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATGTCTTTTGAGGTGTGAAC	0.398																																						dbGAP											0													50.0	54.0	53.0					19																	37129879		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1368C>G	19.37:g.37129879G>C			A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L456	ENST00000588268.1	37	c.1368	CCDS54257.1	19																																																																																			ZNF461	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.398	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	51	0.00	0	G	NM_153257		37129879	37129879	-1	no_errors	ENST00000588268	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	0.063	C
ZNF461	92283	genome.wustl.edu	37	19	37130138	37130138	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:37130138G>C	ENST00000588268.1	-	6	1336	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Nonsense_Mutation_p.S347*	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTAAGATGTGAGCGATGCCT	0.418																																						dbGAP											0													80.0	88.0	85.0					19																	37130138		2196	4299	6495	-	-	-	SO:0001587	stop_gained	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1109C>G	19.37:g.37130138G>C	ENSP00000467931:p.Ser370*		A8K9W9|Q6VSF7|Q9ULZ8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S370*	ENST00000588268.1	37	c.1109	CCDS54257.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.838434	0.97009	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	.	.	.	3.25	0.629	0.17687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.1908	0.43026	0.0:0.0:0.6508:0.3491	.	.	.	.	X	370;101;347;243	.	ENSP00000353515:S347X	S	-	2	0	ZNF461	41821978	0.000000	0.05858	0.048000	0.18961	0.987000	0.75469	0.230000	0.17852	0.626000	0.30322	0.491000	0.48974	TCA	ZNF461	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.418	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	58	0.00	0	G	NM_153257		37130138	37130138	-1	no_errors	ENST00000588268	ensembl	human	known	69_37n	nonsense	42	17.65	9	SNP	0.014	C
ZNF461	92283	genome.wustl.edu	37	19	37130379	37130379	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:37130379G>C	ENST00000588268.1	-	6	1095	c.868C>G	c.(868-870)Cta>Gta	p.L290V	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.L267V	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTGATGTAGAGTAAGTTCT	0.378																																						dbGAP											0													50.0	55.0	53.0					19																	37130379		2197	4295	6492	-	-	-	SO:0001583	missense	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.868C>G	19.37:g.37130379G>C	ENSP00000467931:p.Leu290Val		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L290V	ENST00000588268.1	37	c.868	CCDS54257.1	19	.	.	.	.	.	.	.	.	.	.	G	6.514	0.462970	0.12402	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.17370	2.28	3.71	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	N	0.05608	-0.01	0.09310	N	1	D;D;B	0.60160	0.979;0.987;0.136	D;P;B	0.74023	0.982;0.869;0.113	T	0.27606	-1.0069	9	0.22706	T	0.39	.	11.5609	0.50776	0.0:0.2553:0.7447:0.0	.	267;212;290	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	V	290;21;267;163	ENSP00000353515:L267V	ENSP00000353515:L267V	L	-	1	2	ZNF461	41822219	0.000000	0.05858	0.959000	0.39883	0.945000	0.59286	-1.912000	0.01582	2.066000	0.61787	0.585000	0.79938	CTA	ZNF461	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.378	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	72	0.00	0	G	NM_153257		37130379	37130379	-1	no_errors	ENST00000588268	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	0.000	C
ZNF792	126375	genome.wustl.edu	37	19	35450195	35450195	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:35450195G>C	ENST00000404801.1	-	4	950	c.564C>G	c.(562-564)atC>atG	p.I188M	ZNF792_ENST00000605484.1_Missense_Mutation_p.I121M	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I109M(1)|p.I188M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTCCGTTCTGATAGGGTTGT	0.542																																					GBM(1;7 183 21053 22581 22847)	dbGAP											2	Substitution - Missense(2)	cervix(2)											241.0	235.0	237.0					19																	35450195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.564C>G	19.37:g.35450195G>C	ENSP00000385099:p.Ile188Met		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I188M	ENST00000404801.1	37	c.564	CCDS12440.2	19	.	.	.	.	.	.	.	.	.	.	g	8.279	0.815131	0.16607	.	.	ENSG00000180884	ENST00000404801	T	0.06294	3.32	2.94	-2.59	0.06209	.	.	.	.	.	T	0.05181	0.0138	L	0.40543	1.245	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.39375	-0.9617	9	0.66056	D	0.02	.	4.7892	0.13239	0.2406:0.3235:0.4359:0.0	.	188	Q3KQV3	ZN792_HUMAN	M	188	ENSP00000385099:I188M	ENSP00000385099:I188M	I	-	3	3	ZNF792	40142035	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.392000	0.07751	-0.444000	0.05651	ATC	ZNF792	-	NULL	ENSG00000180884		0.542	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	33	0.00	0	G	NM_175872		35450195	35450195	-1	no_errors	ENST00000404801	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.001	C
ZNF701	55762	genome.wustl.edu	37	19	53086613	53086613	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr19:53086613G>C	ENST00000540331.1	+	5	1724	c.1499G>C	c.(1498-1500)gGa>gCa	p.G500A	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.G434A|ZNF701_ENST00000301093.2_Missense_Mutation_p.G500A	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CTTCATACTGGAGAGAAACCT	0.358																																					NSCLC(89;451 1475 9611 20673 52284)	dbGAP											0													45.0	39.0	41.0					19																	53086613		2202	4293	6495	-	-	-	SO:0001583	missense	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1499G>C	19.37:g.53086613G>C	ENSP00000444339:p.Gly500Ala		A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G500A	ENST00000540331.1	37	c.1499	CCDS54311.1	19	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982500	0.18889	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.26373	1.74;1.74;1.74	1.98	-2.65	0.06095	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22003	0.0530	L	0.45581	1.43	0.21184	N	0.999765	P;B	0.47962	0.903;0.02	B;B	0.44085	0.44;0.027	T	0.15009	-1.0452	9	0.62326	D	0.03	.	6.767	0.23573	0.5191:0.0:0.4809:0.0	.	500;434	F5GZM6;Q9NV72	.;ZN701_HUMAN	A	434;500;500	ENSP00000375662:G434A;ENSP00000301093:G500A;ENSP00000444339:G500A	ENSP00000301093:G500A	G	+	2	0	ZNF701	57778425	0.111000	0.22076	0.000000	0.03702	0.003000	0.03518	0.557000	0.23454	-0.696000	0.05098	-0.368000	0.07277	GGA	ZNF701	-	pfscan_Znf_C2H2	ENSG00000167562		0.358	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	52	0.00	0	G	NM_018260		53086613	53086613	+1	no_errors	ENST00000301093	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	0.889	C
ZNHIT6	54680	genome.wustl.edu	37	1	86173517	86173517	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr1:86173517C>G	ENST00000370574.3	-	1	584	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.E112Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	151	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TCCTTCACTTCTGACCAGTCC	0.423																																						dbGAP											0													251.0	223.0	233.0					1																	86173517		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.451G>C	1.37:g.86173517C>G	ENSP00000359606:p.Glu151Gln		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.E151Q	ENST00000370574.3	37	c.451	CCDS707.1	1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105499	0.37145	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.61627	0.31;0.09	4.31	3.31	0.37934	.	0.441952	0.18948	N	0.126769	T	0.22205	0.0535	N	0.24115	0.695	0.09310	N	1	P;P	0.44578	0.838;0.838	B;B	0.36134	0.159;0.218	T	0.05022	-1.0911	10	0.30854	T	0.27	-8.2934	12.0331	0.53410	0.0:0.8235:0.1765:0.0	.	112;151	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	112;151	ENSP00000414344:E112Q;ENSP00000359606:E151Q	ENSP00000359606:E151Q	E	-	1	0	ZNHIT6	85946105	0.006000	0.16342	0.874000	0.34290	0.717000	0.41224	0.545000	0.23268	2.380000	0.81148	0.491000	0.48974	GAA	ZNHIT6	-	NULL	ENSG00000117174		0.423	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT6	HGNC	protein_coding	OTTHUMT00000029186.1	132	0.75	1	C	NM_017953		86173517	86173517	-1	no_errors	ENST00000370574	ensembl	human	known	69_37n	missense	63	37.25	38	SNP	0.152	G
ZSCAN23	222696	genome.wustl.edu	37	6	28403768	28403768	+	Silent	SNP	C	C	T			TCGA-A7-A26H-01A-11D-A167-09	TCGA-A7-A26H-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fbeade79-28ef-4e85-8282-67e691630ca3	73459869-08fc-408a-bdf0-6ca346113171	g.chr6:28403768C>T	ENST00000289788.4	-	2	421	c.276G>A	c.(274-276)gtG>gtA	p.V92V	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	92	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ACTGCTCCAGCACCAGCAGCT	0.607																																						dbGAP											0													52.0	50.0	50.0					6																	28403768		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"""-"", ""Zinc fingers, C2H2-type"""	21193	protein-coding gene	gene with protein product			"""zinc finger protein 453"", ""zinc finger protein 390"""	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.276G>A	6.37:g.28403768C>T			Q96KV9	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V92	ENST00000289788.4	37	c.276	CCDS47393.1	6																																																																																			ZSCAN23	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000187987		0.607	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	57	0.00	0	C	XM_167147		28403768	28403768	-1	no_errors	ENST00000289788	ensembl	human	known	69_37n	silent	40	16.67	8	SNP	1.000	T
