#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AATK	9625	genome.wustl.edu	37	17	79093812	79093812	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:79093812C>T	ENST00000326724.4	-	12	3831	c.3807G>A	c.(3805-3807)ggG>ggA	p.G1269G	AATK_ENST00000417379.1_Silent_p.G1166G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1269					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCCGGGGCTCCCCCTAAGGA	0.701																																																	0													5.0	6.0	6.0					17																	79093812		1498	3487	4985	SO:0001819	synonymous_variant	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.3807G>A	17.37:g.79093812C>T			O75136|Q6ZN31|Q86X28	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1269	ENST00000326724.4	37	c.3807	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	4.566	0.105052	0.08731	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.45	-3.39	0.04868	.	0.197783	0.32970	N	0.005421	T	0.24353	0.0590	.	.	.	0.21652	N	0.999606	.	.	.	.	.	.	T	0.15321	-1.0441	6	0.44086	T	0.13	.	2.8193	0.05467	0.1641:0.399:0.3056:0.1313	.	.	.	.	E	1222	.	ENSP00000398796:G1222E	G	-	2	0	AATK	76708407	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.298000	0.08265	-0.755000	0.04709	-0.802000	0.03209	GGA	AATK	-	NULL		0.701	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79093812	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	silent	SNP	0.018	T
ADAM22	53616	genome.wustl.edu	37	7	87778331	87778331	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:87778331G>T	ENST00000265727.7	+	18	1604	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y	ADAM22_ENST00000398201.4_Missense_Mutation_p.D509Y|ADAM22_ENST00000315984.7_Missense_Mutation_p.D509Y|ADAM22_ENST00000398209.3_Missense_Mutation_p.D509Y|ADAM22_ENST00000398204.4_Missense_Mutation_p.D509Y			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	509	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AGCAGTAAATGATTGTGATAT	0.368																																																	0													74.0	65.0	68.0					7																	87778331		1821	4078	5899	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1525G>T	7.37:g.87778331G>T	ENSP00000265727:p.Asp509Tyr		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D509Y	ENST00000265727.7	37	c.1525	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917266	0.92249	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.35	5.35	0.76521	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.63880	0.986;0.982;0.986;0.993	P;P;P;P	0.59115	0.825;0.731;0.825;0.852	T	0.55995	-0.8052	10	0.72032	D	0.01	.	17.8647	0.88792	0.0:0.0:1.0:0.0	.	561;509;509;509	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	509;509;509;509;509;476	ENSP00000381262:D509Y;ENSP00000381260:D509Y;ENSP00000265727:D509Y;ENSP00000315900:D509Y;ENSP00000381267:D509Y;ENSP00000381261:D476Y	ENSP00000265727:D509Y	D	+	1	0	ADAM22	87616267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.951000	0.75983	2.498000	0.84270	0.655000	0.94253	GAT	ADAM22	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.368	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	G	NM_021723		87778331	+1	no_errors	ENST00000265727	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS12	81792	genome.wustl.edu	37	5	33588817	33588817	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:33588817C>T	ENST00000504830.1	-	18	3087	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E833K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	918	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGAGCCTGCTCGTCAGAGACC	0.642										HNSCC(64;0.19)																																							0													129.0	124.0	126.0					5																	33588817		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2752G>A	5.37:g.33588817C>T	ENSP00000422554:p.Glu918Lys		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E918K	ENST00000504830.1	37	c.2752	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.770259	0.96914	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59906	0.25;0.23	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.846	T	0.72814	-0.4179	10	0.20519	T	0.43	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	833;918	P58397-3;P58397	.;ATS12_HUMAN	K	918;833	ENSP00000422554:E918K;ENSP00000344847:E833K	ENSP00000344847:E833K	E	-	1	0	ADAMTS12	33624574	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	7.702000	0.84576	2.838000	0.97847	0.591000	0.81541	GAG	ADAMTS12	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.642	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33588817	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	1.000	T
ADCY7	113	genome.wustl.edu	37	16	50344639	50344639	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:50344639G>A	ENST00000394697.2	+	19	2542	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S	ADCY7_ENST00000254235.3_Silent_p.S734S			P51828	ADCY7_HUMAN	adenylate cyclase 7	734					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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCGCCTGCTCGGTCTTCCTGA	0.627																																																	0													112.0	80.0	91.0					16																	50344639		2198	4300	6498	SO:0001819	synonymous_variant	113			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2202G>A	16.37:g.50344639G>A			A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S734	ENST00000394697.2	37	c.2202	CCDS10741.1	16																																																																																			ADCY7	-	NULL		0.627	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	G			50344639	+1	no_errors	ENST00000254235	ensembl	human	known	70_37	silent	SNP	0.018	A
ADD3	120	genome.wustl.edu	37	10	111877134	111877134	+	Missense_Mutation	SNP	T	T	A	rs370426959		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:111877134T>A	ENST00000356080.4	+	5	888	c.521T>A	c.(520-522)aTa>aAa	p.I174K	ADD3_ENST00000277900.8_Missense_Mutation_p.I174K|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.I174K	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	174						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CACATTATAATAATTCCCAGA	0.363																																																	0													85.0	85.0	85.0					10																	111877134		2203	4300	6503	SO:0001583	missense	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.521T>A	10.37:g.111877134T>A	ENSP00000348381:p.Ile174Lys		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.I174K	ENST00000356080.4	37	c.521	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	T	33	5.233355	0.95207	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.34072	1.38;1.38;1.38	5.8	5.8	0.92144	Class II aldolase/adducin, N-terminal (3);	0.041672	0.85682	D	0.000000	T	0.72771	0.3502	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.82466	-0.0443	10	0.87932	D	0	-14.999	16.1596	0.81693	0.0:0.0:0.0:1.0	.	174;174	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	K	174	ENSP00000353286:I174K;ENSP00000348381:I174K;ENSP00000277900:I174K	ENSP00000277900:I174K	I	+	2	0	ADD3	111867124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.819000	0.86621	2.216000	0.71823	0.533000	0.62120	ATA	ADD3	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.363	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	T	NM_019903		111877134	+1	no_errors	ENST00000356080	ensembl	human	known	70_37	missense	SNP	1.000	A
AHCYL1	10768	genome.wustl.edu	37	1	110559006	110559006	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:110559006G>A	ENST00000369799.5	+	8	1190	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	AHCYL1_ENST00000359172.3_Missense_Mutation_p.A228T|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A228T	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	275					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGTGTTCCGGCCATGAACGT	0.403																																																	0													94.0	100.0	98.0					1																	110559006		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.823G>A	1.37:g.110559006G>A	ENSP00000358814:p.Ala275Thr		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.A275T	ENST00000369799.5	37	c.823	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.125865	0.94429	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.83163	-1.69;-1.69;-1.69	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94898	0.8054	10	0.87932	D	0	-19.1525	20.1649	0.98147	0.0:0.0:1.0:0.0	.	275	O43865	SAHH2_HUMAN	T	275;228;228	ENSP00000358814:A275T;ENSP00000352092:A228T;ENSP00000377238:A228T	ENSP00000352092:A228T	A	+	1	0	AHCYL1	110360529	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	9.869000	0.99810	2.753000	0.94483	0.655000	0.94253	GCC	AHCYL1	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.403	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1	G			110559006	+1	no_errors	ENST00000369799	ensembl	human	known	70_37	missense	SNP	1.000	A
AKAP13	11214	genome.wustl.edu	37	15	86286834	86286834	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:86286834G>A	ENST00000394518.2	+	36	8265	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E2728K|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.E969K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2724	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTGGACTCAGAACTTTCAGT	0.507																																					Melanoma(94;603 1453 3280 32295 32951)												0													155.0	160.0	158.0					15																	86286834		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8170G>A	15.37:g.86286834G>A	ENSP00000378026:p.Glu2724Lys		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E2728K	ENST00000394518.2	37	c.8182	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428442	0.43122	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.53857	0.6;0.6;0.6	5.73	5.73	0.89815	.	.	.	.	.	T	0.54935	0.1889	M	0.63843	1.955	0.38749	D	0.954062	P;P	0.43231	0.7;0.801	B;B	0.39935	0.166;0.314	T	0.63743	-0.6568	9	0.66056	D	0.02	.	18.9014	0.92444	0.0:0.0:1.0:0.0	.	2724;2728	Q12802;Q12802-2	AKP13_HUMAN;.	K	2728;2724;2727;2703;969	ENSP00000354718:E2728K;ENSP00000378026:E2724K;ENSP00000378018:E969K	ENSP00000354718:E2728K	E	+	1	0	AKAP13	84087838	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	7.223000	0.78033	2.721000	0.93114	0.655000	0.94253	GAA	AKAP13	-	NULL		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86286834	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	A
AKNAD1	254268	genome.wustl.edu	37	1	109365884	109365884	+	Intron	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:109365884G>A	ENST00000370001.3	-	13	2436				AKNAD1_ENST00000357393.4_3'UTR|AKNAD1_ENST00000369995.3_Missense_Mutation_p.S726F|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000369994.1_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GCAAAATGGAGAGGCCAGGGC	0.522																																																	0																																										SO:0001627	intron_variant	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2167+107C>T	1.37:g.109365884G>A			B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.S726F	ENST00000370001.3	37	c.2177	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908262	0.17833	.	.	ENSG00000162641	ENST00000369995	T	0.17370	2.28	4.37	0.137	0.14787	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36672	-0.9738	6	0.66056	D	0.02	.	3.7857	0.08700	0.3327:0.1827:0.4846:0.0	.	.	.	.	F	726	ENSP00000359012:S726F	ENSP00000359012:S726F	S	-	2	0	AKNAD1	109167407	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.013000	0.12678	-0.055000	0.13244	-0.140000	0.14226	TCT	AKNAD1	-	NULL		0.522	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	G	NM_152763		109365884	-1	no_errors	ENST00000369995	ensembl	human	known	70_37	missense	SNP	0.000	A
ALDOB	229	genome.wustl.edu	37	9	104187132	104187132	+	Missense_Mutation	SNP	C	C	T	rs371526091	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:104187132C>T	ENST00000374855.4	-	8	1116	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	331					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TACCATGGCCCGCTTCATAAA	0.522																																																	0													109.0	104.0	106.0					9																	104187132		2203	4300	6503	SO:0001583	missense	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.992G>A	9.37:g.104187132C>T	ENSP00000363988:p.Arg331Gln		Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.R331Q	ENST00000374855.4	37	c.992	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.743349	0.96873	.	.	ENSG00000136872	ENST00000374855	D	0.87491	-2.26	5.63	5.63	0.86233	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95121	0.8419	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.95794	0.8827	10	0.87932	D	0	-12.898	19.0349	0.92972	0.0:1.0:0.0:0.0	.	331	P05062	ALDOB_HUMAN	Q	331	ENSP00000363988:R331Q	ENSP00000363988:R331Q	R	-	2	0	ALDOB	103226953	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.776000	0.85560	2.815000	0.96918	0.561000	0.74099	CGG	ALDOB	-	pfam_Aldolase_I		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	C			104187132	-1	no_errors	ENST00000374855	ensembl	human	known	70_37	missense	SNP	1.000	T
ALOX12	239	genome.wustl.edu	37	17	6909857	6909857	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:6909857G>T	ENST00000251535.6	+	11	1524	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	491	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CATAGTGAAGGGGGACCCTGA	0.597																																																	0													83.0	82.0	82.0					17																	6909857		2203	4300	6503	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1471G>T	17.37:g.6909857G>T	ENSP00000251535:p.Gly491Trp		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.G491W	ENST00000251535.6	37	c.1471	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774019	0.49786	.	.	ENSG00000108839	ENST00000251535	T	0.07567	3.18	4.2	-0.106	0.13596	Lipoxygenase, C-terminal (3);	0.495379	0.21370	N	0.075652	T	0.14227	0.0344	L	0.57536	1.79	0.36068	D	0.841946	D	0.59767	0.986	P	0.58391	0.838	T	0.18587	-1.0332	10	0.72032	D	0.01	-0.3255	3.4868	0.07622	0.3326:0.1973:0.4701:0.0	.	491	P18054	LOX12_HUMAN	W	491	ENSP00000251535:G491W	ENSP00000251535:G491W	G	+	1	0	ALOX12	6850581	0.003000	0.15002	0.938000	0.37757	0.632000	0.37999	0.212000	0.17497	0.165000	0.19558	0.484000	0.47621	GGG	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C		0.597	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	G			6909857	+1	no_errors	ENST00000251535	ensembl	human	known	70_37	missense	SNP	0.733	T
ANKFN1	162282	genome.wustl.edu	37	17	54588280	54588280	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:54588280G>A	ENST00000566473.2	+	20	3100	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K				Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	0										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATCGCTCTCTGAGGGCATTTA	0.647																																																	0																																										SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000566473.2:c.3100G>A	17.37:g.54588280G>A	ENSP00000454224:p.Glu1034Lys			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.E1034K	ENST00000566473.2	37	c.3100		17																																																																																			ANKFN1	-	NULL		0.647	ANKFN1-002	NOVEL	basic|exp_conf	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000435456.2	G	NM_153228		54588280	+1	no_errors	ENST00000566473	ensembl	human	novel	70_37	missense	SNP	0.976	A
ANKRD28	23243	genome.wustl.edu	37	3	15838150	15838151	+	Intron	INS	-	-	TT	rs397988804|rs144777884|rs34139082|rs192856159|rs201201313	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:15838150_15838151insTT	ENST00000399451.2	-	2	395				ANKRD28_ENST00000497037.1_Intron|ANKRD28_ENST00000383777.1_5'Flank	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCACAGCTGGGTTTTTTTTTTT	0.297																																																	0																																										SO:0001627	intron_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.28-1337->AA	3.37:g.15838159_15838160dupTT			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	RNA	INS	-	NULL	ENST00000399451.2	37	NULL	CCDS46769.1	3																																																																																			ANKRD28	-	-		0.297	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	NM_015199		15838151	-1	no_errors	ENST00000461696	ensembl	human	known	70_37	rna	INS	0.016:0.428	TT
ANKRD31	256006	genome.wustl.edu	37	5	74433799	74433799	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:74433799G>C	ENST00000274361.3	-	16	3778	c.3587C>G	c.(3586-3588)tCt>tGt	p.S1196C	ANKRD31_ENST00000504022.1_5'UTR|ANKRD31_ENST00000506364.2_Missense_Mutation_p.S1253C	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	1196										endometrium(1)|kidney(4)	5						TCCTTCATTAGATGCCTCATG	0.323																																																	0													108.0	91.0	96.0					5																	74433799		692	1588	2280	SO:0001583	missense	256006			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.3587C>G	5.37:g.74433799G>C	ENSP00000274361:p.Ser1196Cys			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S1196C	ENST00000274361.3	37	c.3587		5	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452515	0.26074	.	.	ENSG00000145700	ENST00000274361	T	0.63913	-0.07	5.41	4.53	0.55603	.	.	.	.	.	T	0.55577	0.1929	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.51301	-0.8723	7	0.44086	T	0.13	.	14.3012	0.66355	0.0:0.0:0.8502:0.1498	.	.	.	.	C	1196	ENSP00000274361:S1196C	ENSP00000274361:S1196C	S	-	2	0	ANKRD31	74469555	0.999000	0.42202	0.047000	0.18901	0.305000	0.27757	5.021000	0.64072	1.263000	0.44181	0.650000	0.86243	TCT	ANKRD31	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.323	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		G	NM_001164443		74433799	-1	no_errors	ENST00000274361	ensembl	human	known	70_37	missense	SNP	0.091	C
ANKRD52	283373	genome.wustl.edu	37	12	56641847	56641847	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:56641847G>A	ENST00000267116.7	-	18	2059	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	646										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGCGCTCCTTGATGAGGGCAG	0.637																																																	0													29.0	35.0	33.0					12																	56641847		2057	4197	6254	SO:0001819	synonymous_variant	283373			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1938C>T	12.37:g.56641847G>A			A6NE79|B1Q2K2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I646	ENST00000267116.7	37	c.1938	CCDS44920.1	12																																																																																			ANKRD52	-	smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.637	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1	G	NM_173595		56641847	-1	no_errors	ENST00000267116	ensembl	human	known	70_37	silent	SNP	1.000	A
ANKS1A	23294	genome.wustl.edu	37	6	34951182	34951182	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:34951182C>G	ENST00000360359.3	+	7	1130	c.992C>G	c.(991-993)tCc>tGc	p.S331C	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	331					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTATGGACTCCATATCACAG	0.433																																																	0													132.0	149.0	144.0					6																	34951182		2203	4300	6503	SO:0001583	missense	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.992C>G	6.37:g.34951182C>G	ENSP00000353518:p.Ser331Cys		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S331C	ENST00000360359.3	37	c.992	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951095	0.34471	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	T	0.54479	0.57	5.92	4.13	0.48395	.	0.289641	0.24866	N	0.034972	T	0.25005	0.0607	L	0.27053	0.805	0.58432	D	0.999995	P	0.38642	0.641	B	0.40101	0.319	T	0.16012	-1.0417	10	0.59425	D	0.04	-11.8256	7.5139	0.27590	0.0:0.7456:0.1683:0.0861	.	331	Q92625	ANS1A_HUMAN	C	331	ENSP00000353518:S331C	ENSP00000353518:S331C	S	+	2	0	ANKS1A	35059160	0.439000	0.25610	0.818000	0.32626	0.891000	0.51852	1.994000	0.40757	1.502000	0.48669	0.650000	0.86243	TCC	ANKS1A	-	NULL		0.433	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	C	XM_166478		34951182	+1	no_errors	ENST00000360359	ensembl	human	known	70_37	missense	SNP	0.757	G
APPL2	55198	genome.wustl.edu	37	12	105591668	105591668	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:105591668G>A	ENST00000258530.3	-	11	1152	c.927C>T	c.(925-927)ctC>ctT	p.L309L	APPL2_ENST00000539978.2_Silent_p.L266L|APPL2_ENST00000551662.1_Silent_p.L315L|APPL2_ENST00000549573.1_Intron	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTGACACATGAGATTCCCGC	0.547																																																	0													79.0	78.0	79.0					12																	105591668		2203	4300	6503	SO:0001819	synonymous_variant	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.927C>T	12.37:g.105591668G>A			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom	p.L315	ENST00000258530.3	37	c.945	CCDS9101.1	12																																																																																			APPL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.547	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	G	NM_018171		105591668	-1	no_errors	ENST00000551662	ensembl	human	known	70_37	silent	SNP	1.000	A
ARF5	381	genome.wustl.edu	37	7	127228576	127228576	+	Silent	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:127228576C>G	ENST00000000233.5	+	1	178	c.24C>G	c.(22-24)ctC>ctG	p.L8L	ARF5_ENST00000467281.1_3'UTR|GCC1_ENST00000497650.1_Intron|GCC1_ENST00000321407.2_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	8					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TGTCCGCGCTCTTTTCGCGGA	0.761																																																	0													8.0	9.0	8.0					7																	127228576		2104	4185	6289	SO:0001819	synonymous_variant	381				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.24C>G	7.37:g.127228576C>G			P26437	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L8	ENST00000000233.5	37	c.24	CCDS34745.1	7																																																																																			ARF5	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF		0.761	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF5	HGNC	protein_coding	OTTHUMT00000059567.2	C	NM_001662		127228576	+1	no_errors	ENST00000000233	ensembl	human	known	70_37	silent	SNP	1.000	G
ATF6B	1388	genome.wustl.edu	37	6	32083736	32083736	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:32083736G>C	ENST00000375203.3	-	18	1924	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*	ATF6B_ENST00000375201.4_Nonsense_Mutation_p.S628*	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	631					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCCACGGCCTGACAGGGTCTC	0.582																																																	0													33.0	30.0	31.0					6																	32083736		2203	4300	6503	SO:0001587	stop_gained	1388				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1892C>G	6.37:g.32083736G>C	ENSP00000364349:p.Ser631*		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Nonsense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.S631*	ENST00000375203.3	37	c.1892	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	g	39	7.416158	0.98269	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	.	.	.	5.34	5.34	0.76211	.	0.124289	0.33438	U	0.004905	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-8.7623	11.9393	0.52892	0.0:0.0:0.8263:0.1737	.	.	.	.	X	631;628	.	ENSP00000364347:S628X	S	-	2	0	ATF6B	32191714	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.563000	0.60823	2.677000	0.91161	0.461000	0.40582	TCA	ATF6B	-	NULL		0.582	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	G			32083736	-1	no_errors	ENST00000375203	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ATG5	9474	genome.wustl.edu	37	6	106650034	106650034	+	Intron	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:106650034C>A	ENST00000369076.3	-	7	897				ATG5_ENST00000360666.4_Intron|ATG5_ENST00000475645.1_5'UTR|ATG5_ENST00000343245.3_Intron|ATG5_ENST00000369070.1_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5						apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATTTATATATCATAAACTTTA	0.318																																																	0																																										SO:0001627	intron_variant	9474			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.574-70G>T	6.37:g.106650034C>A			O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	RNA	SNP	-	NULL	ENST00000369076.3	37	NULL	CCDS5055.1	6																																																																																			ATG5	-	-		0.318	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	C	NM_004849		106650034	-1	no_errors	ENST00000475645	ensembl	human	known	70_37	rna	SNP	0.463	A
ATP6V0E2	155066	genome.wustl.edu	37	7	149570599	149570599	+	5'Flank	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:149570599G>A	ENST00000425642.2	+	0	0				ATP6V0E2_ENST00000464662.1_5'Flank|ATP6V0E2_ENST00000479613.1_5'Flank|ATP6V0E2_ENST00000456496.2_5'UTR|ATP6V0E2-AS1_ENST00000461019.1_RNA|ATP6V0E2_ENST00000606024.1_5'Flank|ATP6V0E2_ENST00000421974.2_5'UTR|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2-AS1_ENST00000464939.1_RNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			AACGCGTGCTGAGGACCCGGC	0.751																																																	0																																										SO:0001631	upstream_gene_variant	401431			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094		7.37:g.149570599G>A	Exception_encountered		A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	RNA	SNP	-	NULL	ENST00000425642.2	37	NULL		7																																																																																			ATP6V0E2-AS1	-	-		0.751	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2-AS1	HGNC	protein_coding	OTTHUMT00000470874.1	G	NM_145230		149570599	-1	no_errors	ENST00000461019	ensembl	human	known	70_37	rna	SNP	0.000	A
ATG9B	285973	genome.wustl.edu	37	7	150717312	150717312	+	Intron	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150717312G>A	ENST00000494791.1	-	6	1039				ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000377974.2_Intron|ATG9B_ENST00000444312.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACTGTCAGATCTCATTTG	0.582																																																	0																																										SO:0001627	intron_variant	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.3533-851C>T	7.37:g.150717312G>A			A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-		0.582	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2	G	NM_173681		150717312	-1	no_errors	ENST00000473409	ensembl	human	known	70_37	rna	SNP	0.039	A
ATP8B4	79895	genome.wustl.edu	37	15	50273469	50273469	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:50273469C>A	ENST00000284509.6	-	11	912	c.771G>T	c.(769-771)caG>caT	p.Q257H	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q257H|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	257						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACCACTATTCTGCATTAGTT	0.299																																																	0													179.0	162.0	167.0					15																	50273469		2195	4295	6490	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.771G>T	15.37:g.50273469C>A	ENSP00000284509:p.Gln257His		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.Q257H	ENST00000284509.6	37	c.771	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408112	0.62399	.	.	ENSG00000104043	ENST00000284509	D	0.91068	-2.78	5.52	1.34	0.21922	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	H	0.96547	3.84	0.44595	D	0.997562	D	0.89917	1.0	D	0.87578	0.998	D	0.92509	0.6015	10	0.72032	D	0.01	.	5.166	0.15086	0.1427:0.6036:0.0:0.2538	.	257	Q8TF62	AT8B4_HUMAN	H	257	ENSP00000284509:Q257H	ENSP00000284509:Q257H	Q	-	3	2	ATP8B4	48060761	0.998000	0.40836	0.998000	0.56505	0.930000	0.56654	0.734000	0.26101	0.048000	0.15891	-0.137000	0.14449	CAG	ATP8B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.299	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	C	NM_024837		50273469	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	missense	SNP	1.000	A
AURKAIP1	54998	genome.wustl.edu	37	1	1309975	1309975	+	Intron	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:1309975G>A	ENST00000338370.3	-	1	453				AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Intron|AURKAIP1_ENST00000321751.5_Intron|AURKAIP1_ENST00000338338.5_Intron			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1						negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGAAGCTTAGAGGGGAAAGA	0.657																																																	0																																										SO:0001627	intron_variant	54998				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.52+109C>T	1.37:g.1309975G>A			Q5TA36|Q8TBD3	RNA	SNP	-	NULL	ENST00000338370.3	37	NULL	CCDS25.1	1																																																																																			AURKAIP1	-	-		0.657	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	G	NM_017900		1309975	-1	no_errors	ENST00000489799	ensembl	human	putative	70_37	rna	SNP	0.000	A
BAI3	577	genome.wustl.edu	37	6	69666033	69666033	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:69666033G>A	ENST00000370598.1	+	7	2134	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	438	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCCGAATGCAGAGGGCCATGG	0.552																																																	0													70.0	63.0	65.0					6																	69666033		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1313G>A	6.37:g.69666033G>A	ENSP00000359630:p.Arg438Lys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R438K	ENST00000370598.1	37	c.1313	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542208	0.65198	.	.	ENSG00000135298	ENST00000370598	T	0.49720	0.77	5.71	5.71	0.89125	.	0.052985	0.64402	D	0.000002	T	0.11922	0.0290	N	0.11756	0.17	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.09015	-1.0694	10	0.02654	T	1	.	13.0976	0.59202	0.0732:0.0:0.9268:0.0	.	438	O60242	BAI3_HUMAN	K	438	ENSP00000359630:R438K	ENSP00000359630:R438K	R	+	2	0	BAI3	69722754	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.457000	0.73505	2.701000	0.92244	0.591000	0.81541	AGA	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.552	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69666033	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	A
BAZ1B	9031	genome.wustl.edu	37	7	72884732	72884732	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:72884732G>A	ENST00000339594.4	-	8	3013	c.2675C>T	c.(2674-2676)gCc>gTc	p.A892V	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A892V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	892					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTGGCCTTGGCAATCCCTTC	0.413																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													188.0	158.0	168.0					7																	72884732		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2675C>T	7.37:g.72884732G>A	ENSP00000342434:p.Ala892Val		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A892V	ENST00000339594.4	37	c.2675	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	G	24.0	4.488027	0.84854	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60171	0.21;0.21	5.31	5.31	0.75309	.	0.051005	0.85682	D	0.000000	T	0.48447	0.1500	L	0.40543	1.245	0.52099	D	0.999941	P	0.46987	0.888	B	0.39465	0.3	T	0.43605	-0.9381	10	0.17369	T	0.5	-14.4033	17.9564	0.89070	0.0:0.0:1.0:0.0	.	892	Q9UIG0	BAZ1B_HUMAN	V	892	ENSP00000342434:A892V;ENSP00000385442:A892V	ENSP00000342434:A892V	A	-	2	0	BAZ1B	72522668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.400000	0.79949	2.509000	0.84616	0.650000	0.86243	GCC	BAZ1B	-	superfamily_ARM-type_fold		0.413	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	G	NM_032408		72884732	-1	no_errors	ENST00000339594	ensembl	human	known	70_37	missense	SNP	1.000	A
RP11-464F9.1	0	genome.wustl.edu	37	10	75481142	75481142	+	RNA	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:75481142G>A	ENST00000399449.3	-	0	816				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							ATATAAGGATGAGAAGTCTGC	0.373																																																	0																																												729096																															10.37:g.75481142G>A				RNA	SNP	-	NULL	ENST00000399449.3	37	NULL		10																																																																																			RP11-464F9.1	-	-		0.373	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	BMS1P4	Clone_based_vega_gene	processed_transcript	OTTHUMT00000048674.2	G			75481142	-1	no_errors	ENST00000399449	ensembl	human	known	70_37	rna	SNP	1.000	A
BTAF1	9044	genome.wustl.edu	37	10	93699793	93699793	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:93699793G>A	ENST00000265990.6	+	3	531	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	75					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AAATGTACCTGAGTGGAATCC	0.353																																																	0													64.0	66.0	65.0					10																	93699793		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.223G>A	10.37:g.93699793G>A	ENSP00000265990:p.Glu75Lys		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E75K	ENST00000265990.6	37	c.223	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230529	0.58777	.	.	ENSG00000095564	ENST00000265990	D	0.89617	-2.54	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.057616	0.64402	D	0.000002	T	0.81527	0.4841	N	0.21142	0.635	0.80722	D	1	B	0.21309	0.054	B	0.20767	0.031	T	0.76397	-0.2974	10	0.06494	T	0.89	-1.8506	19.2123	0.93760	0.0:0.0:1.0:0.0	.	75	O14981	BTAF1_HUMAN	K	75	ENSP00000265990:E75K	ENSP00000265990:E75K	E	+	1	0	BTAF1	93689773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.682000	0.98655	2.552000	0.86080	0.655000	0.94253	GAG	BTAF1	-	superfamily_ARM-type_fold		0.353	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	G	NM_003972		93699793	+1	no_errors	ENST00000265990	ensembl	human	known	70_37	missense	SNP	1.000	A
BTBD1	53339	genome.wustl.edu	37	15	83735727	83735727	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:83735727G>A	ENST00000261721.4	-	1	379	c.177C>T	c.(175-177)ttC>ttT	p.F59F	RP11-382A20.5_ENST00000566841.1_RNA|MIR4515_ENST00000584082.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Silent_p.F59F	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	59					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AGAGGAAGGCGAAGCGCTCCT	0.716																																																	0													18.0	17.0	18.0					15																	83735727		2166	4248	6414	SO:0001819	synonymous_variant	53339			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.177C>T	15.37:g.83735727G>A			A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.F59	ENST00000261721.4	37	c.177	CCDS10322.1	15																																																																																			BTBD1	-	superfamily_BTB/POZ_fold		0.716	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	G			83735727	-1	no_errors	ENST00000261721	ensembl	human	known	70_37	silent	SNP	1.000	A
C10orf126	283080	genome.wustl.edu	37	10	29162208	29162208	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:29162208G>C	ENST00000375520.1	+	4	376	c.198G>C	c.(196-198)tgG>tgC	p.W66C	RNA5SP308_ENST00000362532.1_RNA	NM_001278522.1	NP_001265451.1	Q8N4M7	CJ126_HUMAN	chromosome 10 open reading frame 126	66										haematopoietic_and_lymphoid_tissue(1)	1						TGTACGATTGGAACTCAATGA	0.264																																																	0																																										SO:0001583	missense	283080			BC033839	CCDS60510.1	10p12.1	2014-08-13			ENSG00000204365	ENSG00000204365			28693	protein-coding gene	gene with protein product						12477932	Standard	NM_001278522		Approved	MGC45541, bA492M23.1		Q8N4M7	OTTHUMG00000017878	ENST00000375520.1:c.198G>C	10.37:g.29162208G>C	ENSP00000364670:p.Trp66Cys		Q5T2Z8	Missense_Mutation	SNP	NULL	p.W66C	ENST00000375520.1	37	c.198		10	.	.	.	.	.	.	.	.	.	.	G	0.131	-1.113443	0.01799	.	.	ENSG00000204365	ENST00000375520	.	.	.	2.51	1.11	0.20524	.	.	.	.	.	T	0.44829	0.1312	.	.	.	.	.	.	.	.	.	.	.	.	T	0.53851	-0.8380	4	0.87932	D	0	.	4.3791	0.11284	0.8248:0.0:0.1752:0.0	.	.	.	.	C	66	.	ENSP00000364670:W66C	W	+	3	0	C10orf126	29202214	0.002000	0.14202	0.057000	0.19452	0.004000	0.04260	0.365000	0.20348	0.357000	0.24183	-0.657000	0.03884	TGG	C10orf126	-	NULL		0.264	C10orf126-001	KNOWN	basic|appris_principal	protein_coding	C10orf126	HGNC	protein_coding	OTTHUMT00000047379.1	G			29162208	+1	no_errors	ENST00000375520	ensembl	human	known	70_37	missense	SNP	0.119	C
NTM	50863	genome.wustl.edu	37	11	131530307	131530307	+	Intron	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:131530307G>A	ENST00000374791.3	+	2	411				AP003039.3_ENST00000416725.1_lincRNA|NTM_ENST00000427481.2_5'Flank|NTM_ENST00000539799.1_Intron	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGAGGAGGAAGACTCAGAGCA	0.597																																																	0													46.0	48.0	48.0					11																	131530307		692	1591	2283	SO:0001627	intron_variant	100507450			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.83-251151G>A	11.37:g.131530307G>A			A0MTT2|Q6UXJ3|Q86VJ9	RNA	SNP	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362045	0.24684	.	.	ENSG00000255953	ENST00000536853	.	.	.	4.11	-1.41	0.08941	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35895	-0.9770	5	0.87932	D	0	.	0.623	0.00781	0.2946:0.1643:0.36:0.1811	.	.	.	.	F	85	.	ENSP00000441011:L85F	L	-	1	0	C11orf39	131035517	0.001000	0.12720	0.000000	0.03702	0.334000	0.28698	0.952000	0.29149	-0.381000	0.07882	0.591000	0.81541	CTT	C11orf39	-	-		0.597	NTM-002	KNOWN	basic|CCDS	protein_coding	C11orf39	HGNC	protein_coding	OTTHUMT00000141936.2	G	NM_016522		131530307	-1	no_errors	ENST00000536853	ensembl	human	known	70_37	rna	SNP	0.000	A
KAZN	23254	genome.wustl.edu	37	1	15445259	15445259	+	IGR	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:15445259G>T	ENST00000376030.2	+	0	6030				TMEM51-AS1_ENST00000310916.3_RNA	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein						keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ACACAAGGTGGGGGCTGGTCT	0.602																																																	0																																										SO:0001628	intergenic_variant	200197			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042		1.37:g.15445259G>T			B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	RNA	SNP	-	NULL	ENST00000376030.2	37	NULL	CCDS152.2	1																																																																																			C1orf126	-	-		0.602	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf126	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15445259	-1	no_errors	ENST00000310916	ensembl	human	known	70_37	rna	SNP	0.001	T
C1orf123	54987	genome.wustl.edu	37	1	53686187	53686187	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:53686187C>T	ENST00000294360.4	-	1	48				RP5-1024G6.7_ENST00000569869.1_RNA|C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						GCTGTTGCCTCCCAGACCCTC	0.711																																																	0													13.0	20.0	18.0					1																	53686187		691	1591	2282	SO:0001627	intron_variant	54987			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.6+54G>A	1.37:g.53686187C>T				RNA	SNP	-	NULL	ENST00000294360.4	37	NULL	CCDS576.1	1																																																																																			C1orf123	-	-		0.711	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	C	NM_017887		53686187	-1	no_errors	ENST00000470385	ensembl	human	known	70_37	rna	SNP	0.000	T
GNPAT	8443	genome.wustl.edu	37	1	231376871	231376871	+	5'Flank	SNP	G	G	A	rs531305779		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:231376871G>A	ENST00000366647.4	+	0	0				C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000318906.2_Missense_Mutation_p.S6L|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000366649.2_Missense_Mutation_p.S6L|C1orf131_ENST00000366651.3_Missense_Mutation_p.S6L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGGGTCAGCCGAGGAATCAAC	0.652																																																	0													83.0	85.0	84.0					1																	231376871		2203	4300	6503	SO:0001631	upstream_gene_variant	128061			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231376871G>A	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	NULL	p.S6L	ENST00000366647.4	37	c.17	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371725	0.42003	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.49139	0.8;0.79;0.8	4.33	-1.33	0.09172	.	2.067450	0.02305	N	0.071541	T	0.31327	0.0793	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.18310	0.002;0.027;0.002;0.002;0.002	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001	T	0.18935	-1.0321	10	0.72032	D	0.01	.	1.5761	0.02624	0.202:0.3319:0.3203:0.1457	.	6;6;6;6;6	B4E0F7;Q8NDD1-4;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;.;CA131_HUMAN;.;.	L	6	ENSP00000355609:S6L;ENSP00000321341:S6L;ENSP00000355611:S6L	ENSP00000321341:S6L	S	-	2	0	C1orf131	229443494	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.125000	0.10579	-0.483000	0.06772	-0.266000	0.10368	TCG	C1orf131	-	NULL		0.652	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	G			231376871	-1	no_errors	ENST00000366649	ensembl	human	known	70_37	missense	SNP	0.001	A
C5orf42	65250	genome.wustl.edu	37	5	37226650	37226650	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:37226650C>G	ENST00000508244.1	-	11	2140	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.E683Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	683						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AAAAGTTTCTCTGAGAATAAC	0.348																																																	0													43.0	36.0	38.0					5																	37226650		692	1591	2283	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2047G>C	5.37:g.37226650C>G	ENSP00000421690:p.Glu683Gln		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.E683Q	ENST00000508244.1	37	c.2047	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694709	0.48202	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	D;D	0.98296	-4.85;-4.85	5.18	4.3	0.51218	.	0.711427	0.12954	U	0.425565	D	0.96163	0.8749	M	0.67953	2.075	0.80722	D	1	P	0.34462	0.454	B	0.30572	0.117	D	0.93677	0.6995	10	0.33141	T	0.24	-7.1628	6.6025	0.22708	0.0:0.6842:0.1584:0.1574	.	683	E9PH94	.	Q	683	ENSP00000421690:E683Q;ENSP00000389014:E683Q	ENSP00000389014:E683Q	E	-	1	0	C5orf42	37262407	0.179000	0.23135	0.972000	0.41901	0.983000	0.72400	0.164000	0.16542	1.168000	0.42723	0.586000	0.80456	GAG	C5orf42	-	NULL		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37226650	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.963	G
C9orf78	51759	genome.wustl.edu	37	9	132597032	132597032	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:132597032C>T	ENST00000372447.3	-	2	150	c.97G>A	c.(97-99)Gag>Aag	p.E33K	C9orf78_ENST00000461762.1_5'Flank|USP20_ENST00000358355.1_5'Flank|USP20_ENST00000315480.4_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	33						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCTCTGGTCTCTTCCAGTTTT	0.537																																																	0													131.0	122.0	125.0					9																	132597032		2203	4300	6503	SO:0001583	missense	51759			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.97G>A	9.37:g.132597032C>T	ENSP00000361524:p.Glu33Lys		B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	pfam_Hep_59	p.E33K	ENST00000372447.3	37	c.97	CCDS6931.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.663022	0.96745	.	.	ENSG00000136819	ENST00000372447	T	0.52057	0.68	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.83012	2.62	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	T	0.68379	-0.5424	10	0.48119	T	0.1	.	17.6231	0.88087	0.0:1.0:0.0:0.0	.	33	Q9NZ63	CI078_HUMAN	K	33	ENSP00000361524:E33K	ENSP00000361524:E33K	E	-	1	0	C9orf78	131636853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.361000	0.73070	2.644000	0.89710	0.491000	0.48974	GAG	C9orf78	-	NULL		0.537	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1	C	NM_016520		132597032	-1	no_errors	ENST00000372447	ensembl	human	known	70_37	missense	SNP	1.000	T
CC2D1B	200014	genome.wustl.edu	37	1	52821305	52821305	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:52821305C>T	ENST00000371586.2	-	20	2318	c.2180G>A	c.(2179-2181)cGg>cAg	p.R727Q	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R721Q|CC2D1B_ENST00000438831.1_Missense_Mutation_p.R102Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	727	C2.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AAACTCAAACCGCACAAAAGC	0.547																																																	0													65.0	64.0	64.0					1																	52821305		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2180G>A	1.37:g.52821305C>T	ENSP00000360642:p.Arg727Gln		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R727Q	ENST00000371586.2	37	c.2180	CCDS30714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.20|17.20	3.329301|3.329301	0.60743|0.60743	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	.|T;T;T	.|0.25912	.|1.77;1.77;1.77	4.68|4.68	4.68|4.68	0.58851|0.58851	.|C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.|0.205916	.|0.39146	.|N	.|0.001448	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.59436|0.59436	1.845|1.845	0.42732|0.42732	D|D	0.993713|0.993713	.|D;D;D	.|0.69078	.|0.997;0.996;0.997	.|P;P;P	.|0.58391	.|0.838;0.749;0.838	T|T	0.10132|0.10132	-1.0643|-1.0643	5|10	.|0.46703	.|T	.|0.11	-18.0576|-18.0576	6.1999|6.1999	0.20569|0.20569	0.0:0.7747:0.0:0.2253|0.0:0.7747:0.0:0.2253	.|.	.|507;721;727	.|Q5T0G1;Q5T0F9-2;Q5T0F9	.|.;.;C2D1B_HUMAN	S|Q	508;641|727;721;635;102	.|ENSP00000360642:R727Q;ENSP00000284376:R721Q;ENSP00000406300:R102Q	.|ENSP00000284376:R721Q	G|R	-|-	1|2	0|0	CC2D1B|CC2D1B	52593893|52593893	0.975000|0.975000	0.34042|0.34042	1.000000|1.000000	0.80357|0.80357	0.577000|0.577000	0.36160|0.36160	1.865000|1.865000	0.39479|0.39479	2.598000|2.598000	0.87819|0.87819	0.561000|0.561000	0.74099|0.74099	GGT|CGG	CC2D1B	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.547	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	C	NM_032449		52821305	-1	no_errors	ENST00000371586	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC14	64770	genome.wustl.edu	37	3	123667908	123667908	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:123667908C>T	ENST00000488653.2	-	6	658	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CCDC14_ENST00000433542.2_Missense_Mutation_p.E149K|CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000310351.4_Missense_Mutation_p.E30K|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	190					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CAGTTTTGCTCTAGGTCTGAT	0.383																																																	0													125.0	111.0	116.0					3																	123667908		2203	4300	6503	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.568G>A	3.37:g.123667908C>T	ENSP00000420180:p.Glu190Lys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.E190K	ENST00000488653.2	37	c.568		3	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.614635	0.00835	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000433542;ENST00000409697	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.32	-0.033	0.13902	.	0.906126	0.09273	N	0.824865	T	0.26846	0.0657	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.24941	-1.0146	10	0.22706	T	0.39	.	9.6883	0.40111	0.0:0.4389:0.4683:0.0928	.	190;149	Q49A88;Q49A88-6	CCD14_HUMAN;.	K	190;30;149;171	ENSP00000420180:E190K;ENSP00000312031:E30K;ENSP00000395706:E149K;ENSP00000386866:E171K	ENSP00000312031:E30K	E	-	1	0	CCDC14	125150598	0.031000	0.19500	0.000000	0.03702	0.043000	0.13939	0.294000	0.19047	0.075000	0.16796	-0.176000	0.13171	GAG	CCDC14	-	NULL		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		C	NM_022757		123667908	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.000	T
CCDC152	100129792	genome.wustl.edu	37	5	42769698	42769698	+	Splice_Site	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:42769698G>A	ENST00000361970.5	+	4	280		c.e4-1		CCDC152_ENST00000388827.4_Splice_Site	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						ttatatttCAGAATGTGCTAC	0.239																																																	0													23.0	21.0	21.0					5																	42769698		689	1554	2243	SO:0001630	splice_region_variant	100129792				CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.194-1G>A	5.37:g.42769698G>A			B3KXI4|B4E0P7|Q5BLP6	Splice_Site	SNP	-	e3-1	ENST00000361970.5	37	c.194-1	CCDS47203.1	5	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376797	0.42105	.	.	ENSG00000198865	ENST00000361970;ENST00000388827	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0855	0.72148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC152	42805455	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.988000	0.63863	2.705000	0.92388	0.591000	0.81541	.	CCDC152	-	-		0.239	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC152	HGNC	protein_coding	OTTHUMT00000367497.1	G	XM_001717416	Intron	42769698	+1	no_errors	ENST00000361970	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CCDC77	84318	genome.wustl.edu	37	12	520915	520915	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:520915G>A	ENST00000239830.4	+	4	220	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_5'UTR|CCDC77_ENST00000540180.1_5'UTR|CCDC77_ENST00000412006.2_5'UTR	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	14						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TCACGTAGGCGAACAGTTGTC	0.458																																																	0													78.0	69.0	72.0					12																	520915		2203	4300	6503	SO:0001583	missense	84318			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.41G>A	12.37:g.520915G>A	ENSP00000239830:p.Arg14Gln		B4DDE8	Missense_Mutation	SNP	NULL	p.R14Q	ENST00000239830.4	37	c.41	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540078	0.04053	.	.	ENSG00000120647	ENST00000535052;ENST00000239830	T;T	0.34072	1.38;1.38	4.5	-4.14	0.03892	.	2.119320	0.01893	N	0.038718	T	0.12944	0.0314	N	0.03608	-0.345	0.22378	N	0.999155	B	0.06786	0.001	B	0.04013	0.001	T	0.08249	-1.0731	10	0.13470	T	0.59	1.0528	1.083	0.01647	0.2315:0.3255:0.2355:0.2075	.	14	Q9BR77	CCD77_HUMAN	Q	14	ENSP00000443209:R14Q;ENSP00000239830:R14Q	ENSP00000239830:R14Q	R	+	2	0	CCDC77	391176	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.173000	0.03108	-1.112000	0.02984	-3.366000	0.00041	CGA	CCDC77	-	NULL		0.458	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	G	NM_032358		520915	+1	no_errors	ENST00000239830	ensembl	human	known	70_37	missense	SNP	0.000	A
CCHCR1	54535	genome.wustl.edu	37	6	31118560	31118560	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:31118560G>A	ENST00000376266.5	-	6	898	c.776C>T	c.(775-777)tCt>tTt	p.S259F	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.S348F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S259F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S312F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	259					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GTGGACCTCAGAAGGCACTTG	0.522																																																	0													289.0	295.0	293.0					6																	31118560		1511	2709	4220	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.776C>T	6.37:g.31118560G>A	ENSP00000365442:p.Ser259Phe		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.S348F	ENST00000376266.5	37	c.1043	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	g	8.384	0.838097	0.16891	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	4.61	2.76	0.32466	.	1.072300	0.07289	N	0.872082	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	1	B;P;B;P;P	0.48016	0.295;0.56;0.331;0.873;0.904	B;B;B;B;P	0.47981	0.183;0.446;0.183;0.382;0.563	T	0.47686	-0.9098	10	0.62326	D	0.03	-1.4278	5.5493	0.17081	0.1055:0.0:0.6854:0.2091	.	259;259;259;312;348	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	F	348;259;259;259;312	ENSP00000379566:S348F;ENSP00000365442:S259F;ENSP00000379561:S259F;ENSP00000401039:S312F	ENSP00000365442:S259F	S	-	2	0	CCHCR1	31226539	0.004000	0.15560	0.099000	0.21106	0.234000	0.25298	1.402000	0.34600	0.370000	0.24538	0.274000	0.19336	TCT	CCHCR1	-	pfam_HCR		0.522	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	G	NM_019052		31118560	-1	no_errors	ENST00000396268	ensembl	human	known	70_37	missense	SNP	0.001	A
CCZ1B	221960	genome.wustl.edu	37	7	6864357	6864357	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:6864357C>T	ENST00000316731.8	-	2	704	c.132G>A	c.(130-132)aaG>aaA	p.K44K	CCZ1B_ENST00000538180.1_5'UTR	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	44						lysosome (GO:0005764)|membrane (GO:0016020)											AAAATAAAATCTTATTTTCCT	0.338																																																	0													32.0	34.0	33.0					7																	6864357		2188	4270	6458	SO:0001819	synonymous_variant	221960			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.132G>A	7.37:g.6864357C>T			A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	pfam_DUF1712_fun	p.K44	ENST00000316731.8	37	c.132	CCDS5354.1	7																																																																																			CCZ1B	-	pfam_DUF1712_fun		0.338	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	C	NM_198097		6864357	-1	no_errors	ENST00000316731	ensembl	human	known	70_37	silent	SNP	1.000	T
CD2BP2	10421	genome.wustl.edu	37	16	30365041	30365041	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:30365041C>T	ENST00000305596.3	-	5	631	c.456G>A	c.(454-456)atG>atA	p.M152I	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.M152I	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	152					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTTGGGCACTCATTGAGGTCT	0.622																																																	0													18.0	19.0	19.0					16																	30365041		2193	4293	6486	SO:0001583	missense	10421			AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.456G>A	16.37:g.30365041C>T	ENSP00000304903:p.Met152Ile		B2RDX2|Q9ULP2	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.M152I	ENST00000305596.3	37	c.456	CCDS10675.1	16	.	.	.	.	.	.	.	.	.	.	c	10.69	1.422166	0.25639	.	.	ENSG00000169217	ENST00000305596	T	0.27720	1.65	5.06	5.06	0.68205	.	0.164696	0.56097	D	0.000037	T	0.16471	0.0396	N	0.11927	0.2	0.34196	D	0.672566	B	0.09022	0.002	B	0.04013	0.001	T	0.20472	-1.0274	10	0.16420	T	0.52	0.0014	11.4727	0.50280	0.0:0.9127:0.0:0.0873	.	152	O95400	CD2B2_HUMAN	I	152	ENSP00000304903:M152I	ENSP00000304903:M152I	M	-	3	0	CD2BP2	30272542	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.150000	0.50662	2.335000	0.79485	0.655000	0.94253	ATG	CD2BP2	-	NULL		0.622	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2BP2	HGNC	protein_coding	OTTHUMT00000255528.1	C	NM_006110		30365041	-1	no_errors	ENST00000305596	ensembl	human	known	70_37	missense	SNP	0.992	T
CD58	965	genome.wustl.edu	37	1	117086981	117086981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:117086981C>A	ENST00000369489.5	-	2	382	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	CD58_ENST00000457047.2_Nonsense_Mutation_p.E106*|CD58_ENST00000369487.3_Nonsense_Mutation_p.E106*	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	106	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TTTGGCGATTCCATTTCATAC	0.318																																																	0													87.0	91.0	89.0					1																	117086981		2203	4300	6503	SO:0001587	stop_gained	965			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.316G>T	1.37:g.117086981C>A	ENSP00000358501:p.Glu106*		A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonsense_Mutation	SNP	NULL	p.E106*	ENST00000369489.5	37	c.316	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616604	0.66672	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	.	.	.	3.71	1.67	0.24075	.	1.536140	0.04109	N	0.314332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.2357	6.1629	0.20373	0.2161:0.5744:0.2095:0.0	.	.	.	.	X	106;106;78;106	.	ENSP00000358499:E106X	E	-	1	0	CD58	116888504	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.410000	0.21098	0.295000	0.22570	0.561000	0.74099	GAA	CD58	-	NULL		0.318	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD58	HGNC	protein_coding	OTTHUMT00000059036.1	C	NM_001779		117086981	-1	no_errors	ENST00000369489	ensembl	human	known	70_37	nonsense	SNP	0.003	A
CD34	947	genome.wustl.edu	37	1	208062063	208062063	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:208062063C>T	ENST00000310833.7	-	7	1257	c.936G>A	c.(934-936)atG>atA	p.M312I	CD34_ENST00000367036.3_Missense_Mutation_p.M154I|CD34_ENST00000356522.4_Missense_Mutation_p.M312I|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.M177I	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	312					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGCGGCGATTCATCAGGAAAT	0.557																																																	0													198.0	215.0	210.0					1																	208062063		2203	4300	6503	SO:0001583	missense	947			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.936G>A	1.37:g.208062063C>T	ENSP00000310036:p.Met312Ile		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.M312I	ENST00000310833.7	37	c.936	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437394	0.83885	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	4.54	4.54	0.55810	.	0.215631	0.46758	D	0.000261	T	0.44201	0.1282	M	0.72118	2.19	0.40870	D	0.983902	D;D;D;D	0.69078	0.985;0.996;0.997;0.969	D;D;D;D	0.79108	0.977;0.991;0.992;0.968	T	0.43343	-0.9397	10	0.72032	D	0.01	-18.1461	13.0066	0.58707	0.0:1.0:0.0:0.0	.	177;312;312;154	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	I	312;312;154;177;282	ENSP00000310036:M312I;ENSP00000348916:M312I;ENSP00000356003:M154I;ENSP00000442874:M177I	ENSP00000310036:M312I	M	-	3	0	CD34	206128686	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	ATG	CD34	-	pfam_CD34/Podocalyxin,prints_CD34		0.557	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	C	NM_001773		208062063	-1	no_errors	ENST00000310833	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC123	8872	genome.wustl.edu	37	10	12257792	12257792	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:12257792C>T	ENST00000281141.4	+	5	571	c.291C>T	c.(289-291)ctC>ctT	p.L97L	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Silent_p.L97L	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	97					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TCAATTCCCTCGGGGGCAGTG	0.413																																																	0													94.0	92.0	93.0					10																	12257792		2203	4300	6503	SO:0001819	synonymous_variant	8872			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.291C>T	10.37:g.12257792C>T			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Silent	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.L97	ENST00000281141.4	37	c.291	CCDS7090.1	10																																																																																			CDC123	-	pfam_D123,pirsf_Cell_div_Cdc123		0.413	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	C	NM_006023		12257792	+1	no_errors	ENST00000281141	ensembl	human	known	70_37	silent	SNP	0.998	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123169326	123169326	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:123169326A>G	ENST00000349780.4	-	32	5106	c.4927T>C	c.(4927-4929)Tcc>Ccc	p.S1643P	CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1611P|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1602P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1643					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAGGGATGGACACGGCTTGG	0.597																																																	0													103.0	74.0	84.0					9																	123169326		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4927T>C	9.37:g.123169326A>G	ENSP00000343818:p.Ser1643Pro		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.S1643P	ENST00000349780.4	37	c.4927	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364277	0.24684	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.26067	3.74;3.66;3.74;2.07;1.76	4.72	-5.62	0.02481	.	1.451810	0.04225	N	0.334159	T	0.15825	0.0381	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.001;0.004	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.19745	-1.0296	10	0.34782	T	0.22	.	2.3685	0.04324	0.3123:0.4028:0.1656:0.1193	.	653;1611;1643;1037	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	P	1611;1602;1643;1037;653;1415	ENSP00000354065:S1611P;ENSP00000352258:S1602P;ENSP00000343818:S1643P;ENSP00000400395:S1037P;ENSP00000409941:S653P	ENSP00000341695:S1415P	S	-	1	0	CDK5RAP2	122209147	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.467000	0.06664	-1.062000	0.03181	-0.331000	0.08364	TCC	CDK5RAP2	-	NULL		0.597	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	A	NM_018249		123169326	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	0.000	G
CELSR2	1952	genome.wustl.edu	37	1	109792835	109792835	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:109792835G>A	ENST00000271332.3	+	1	195	c.134G>A	c.(133-135)cGa>cAa	p.R45Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	45					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCAGGGGACGAGGCTCTTCG	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)												0													25.0	28.0	27.0					1																	109792835		2202	4297	6499	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.134G>A	1.37:g.109792835G>A	ENSP00000271332:p.Arg45Gln		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R45Q	ENST00000271332.3	37	c.134	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	10.22	1.291124	0.23564	.	.	ENSG00000143126	ENST00000271332	T	0.67865	-0.29	5.05	3.06	0.35304	.	.	.	.	.	T	0.22003	0.0530	N	0.08118	0	0.09310	N	1	B	0.31040	0.305	B	0.20767	0.031	T	0.03555	-1.1025	9	0.13853	T	0.58	.	12.3834	0.55320	0.0:0.1259:0.7444:0.1297	.	45	Q9HCU4	CELR2_HUMAN	Q	45	ENSP00000271332:R45Q	ENSP00000271332:R45Q	R	+	2	0	CELSR2	109594358	0.086000	0.21541	0.985000	0.45067	0.058000	0.15608	1.244000	0.32778	2.360000	0.80028	0.505000	0.49811	CGA	CELSR2	-	NULL		0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	G	NM_001408		109792835	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.226	A
CELSR2	1952	genome.wustl.edu	37	1	109816586	109816586	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:109816586C>T	ENST00000271332.3	+	34	8805				CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACTCTCTCCTCTGTTTCAACT	0.542																																					NSCLC(158;1285 2011 34800 34852 42084)												0													225.0	212.0	216.0					1																	109816586		692	1591	2283	SO:0001627	intron_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8745-58C>T	1.37:g.109816586C>T			Q5T2Y7|Q92566	RNA	SNP	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																			CELSR2	-	-		0.542	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109816586	+1	no_errors	ENST00000498157	ensembl	human	known	70_37	rna	SNP	0.913	T
CGNL1	84952	genome.wustl.edu	37	15	57837863	57837863	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:57837863G>A	ENST00000281282.5	+	17	3652	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1192						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGTGGATGATGAGCACCT	0.562																																																	0													66.0	52.0	57.0					15																	57837863		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3574G>A	15.37:g.57837863G>A	ENSP00000281282:p.Asp1192Asn		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.D1192N	ENST00000281282.5	37	c.3574	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.062736	0.93898	.	.	ENSG00000128849	ENST00000281282	D	0.85339	-1.97	5.39	5.39	0.77823	Myosin tail (1);	0.000000	0.53938	D	0.000042	D	0.93259	0.7852	M	0.85373	2.75	0.58432	D	0.999994	D	0.76494	0.999	D	0.72075	0.976	D	0.94029	0.7299	10	0.87932	D	0	-34.7569	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1192	Q0VF96	CGNL1_HUMAN	N	1192	ENSP00000281282:D1192N	ENSP00000281282:D1192N	D	+	1	0	CGNL1	55625155	1.000000	0.71417	0.918000	0.36340	0.696000	0.40369	9.792000	0.99085	2.526000	0.85167	0.563000	0.77884	GAT	CGNL1	-	pfam_Myosin_tail		0.562	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	G	NM_032866		57837863	+1	no_errors	ENST00000281282	ensembl	human	known	70_37	missense	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6705248	6705248	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:6705248C>T	ENST00000357008.2	-	13	2111	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	CHD4_ENST00000309577.6_Missense_Mutation_p.D650N|CHD4_ENST00000544040.1_Missense_Mutation_p.D643N|CHD4_ENST00000544484.1_Missense_Mutation_p.D647N	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	650	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GAAGCCTGATCGTAAGGTAAG	0.507																																					Colon(32;586 792 4568 16848 45314)												0													146.0	119.0	128.0					12																	6705248		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1948G>A	12.37:g.6705248C>T	ENSP00000349508:p.Asp650Asn		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D650N	ENST00000357008.2	37	c.1948	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976093	0.92982	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.89	4.89	0.63831	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.058690	0.64402	D	0.000003	D	0.88551	0.6467	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.988;0.994	D	0.90679	0.4604	10	0.62326	D	0.03	-3.2761	18.0645	0.89387	0.0:1.0:0.0:0.0	.	650;650;643	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	N	647;643;650;650;624	ENSP00000440392:D647N;ENSP00000440542:D643N;ENSP00000312419:D650N;ENSP00000349508:D650N	ENSP00000312419:D650N	D	-	1	0	CHD4	6575509	1.000000	0.71417	0.896000	0.35187	0.678000	0.39670	7.792000	0.85828	2.243000	0.73865	0.655000	0.94253	GAT	CHD4	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273		6705248	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	missense	SNP	1.000	T
CHMP6	79643	genome.wustl.edu	37	17	78970822	78970822	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:78970822G>C	ENST00000325167.5	+	5	442	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	122					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTCCATTGAAGAGGTGGAGAG	0.642																																																	0													87.0	83.0	85.0					17																	78970822		2203	4300	6503	SO:0001583	missense	79643			BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.364G>C	17.37:g.78970822G>C	ENSP00000317468:p.Glu122Gln		A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	pfam_Snf7	p.E122Q	ENST00000325167.5	37	c.364	CCDS11774.1	17	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284508	0.59867	.	.	ENSG00000176108	ENST00000325167	T	0.71222	-0.55	4.14	4.14	0.48551	.	0.164825	0.52532	D	0.000078	D	0.84051	0.5387	M	0.86953	2.85	0.80722	D	1	D	0.61697	0.99	D	0.64595	0.927	D	0.84716	0.0737	10	0.30078	T	0.28	-12.3481	16.0393	0.80651	0.0:0.0:1.0:0.0	.	122	Q96FZ7	CHMP6_HUMAN	Q	122	ENSP00000317468:E122Q	ENSP00000317468:E122Q	E	+	1	0	CHMP6	76585417	1.000000	0.71417	0.982000	0.44146	0.298000	0.27526	9.031000	0.93731	1.850000	0.53721	0.549000	0.68633	GAG	CHMP6	-	pfam_Snf7		0.642	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP6	HGNC	protein_coding	OTTHUMT00000438215.1	G	NM_024591		78970822	+1	no_errors	ENST00000325167	ensembl	human	known	70_37	missense	SNP	1.000	C
CIRBP	1153	genome.wustl.edu	37	19	1271012	1271012	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:1271012C>T	ENST00000588030.1	+	2	340	c.80C>T	c.(79-81)tCa>tTa	p.S27L	CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000587323.1_Missense_Mutation_p.S27L|CIRBP_ENST00000320936.5_Missense_Mutation_p.S27L|CIRBP_ENST00000444172.2_Nonsense_Mutation_p.Q10*|CIRBP_ENST00000586472.1_Missense_Mutation_p.S27L|CIRBP_ENST00000586773.1_Missense_Mutation_p.S27L|CIRBP_ENST00000588230.1_Missense_Mutation_p.S27L|CIRBP_ENST00000587896.1_Missense_Mutation_p.S27L|CIRBP_ENST00000413636.2_Missense_Mutation_p.S27L|CIRBP_ENST00000585630.1_Missense_Mutation_p.S27L|CIRBP_ENST00000588090.1_Missense_Mutation_p.S27L|CIRBP_ENST00000589660.1_Missense_Mutation_p.S27L|CIRBP_ENST00000589710.1_Missense_Mutation_p.S27L|CIRBP_ENST00000589686.1_Missense_Mutation_p.S27L|CIRBP_ENST00000591935.1_Missense_Mutation_p.S27L|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589235.1_Missense_Mutation_p.S27L			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	27	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		CAGGTCTTCTCAAAGTACGGA	0.592																																																	0													143.0	147.0	146.0					19																	1271012		2203	4300	6503	SO:0001583	missense	1153			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.80C>T	19.37:g.1271012C>T	ENSP00000468788:p.Ser27Leu		B3KT17|B4E2X2	Nonsense_Mutation	SNP	NULL	p.Q10*	ENST00000588030.1	37	c.28	CCDS12059.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.00|17.00	3.276654|3.276654	0.59758|0.59758	.|.	.|.	ENSG00000099622|ENSG00000099622	ENST00000444172|ENST00000320936;ENST00000413636	.|D;D	.|0.85861	.|-2.04;-2.04	4.28|4.28	3.25|3.25	0.37280|0.37280	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.333855	.|0.27486	.|U	.|0.019156	.|D	.|0.89753	.|0.6806	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	A|A	1|1	.|D;D;D	.|0.64830	.|0.976;0.994;0.993	.|D;D;D	.|0.71870	.|0.93;0.975;0.975	.|D	.|0.90990	.|0.4834	.|9	0.87932|0.87932	D|D	0|0	-7.3418|-7.3418	6.859|6.859	0.24056|0.24056	0.0:0.7247:0.1777:0.0976|0.0:0.7247:0.1777:0.0976	.|.	.|27;27;27	.|B4E2X2;D6W5Y5;Q14011	.|.;.;CIRBP_HUMAN	X|L	10|27	.|ENSP00000322887:S27L;ENSP00000412831:S27L	ENSP00000407512:Q10X|ENSP00000322887:S27L	Q|S	+|+	1|2	0|0	CIRBP|CIRBP	1222012|1222012	0.999000|0.999000	0.42202|0.42202	0.291000|0.291000	0.24904|0.24904	0.011000|0.011000	0.07611|0.07611	3.896000|3.896000	0.56266|0.56266	0.793000|0.793000	0.33875|0.33875	0.563000|0.563000	0.77884|0.77884	CAA|TCA	CIRBP	-	NULL		0.592	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	C	NM_001280		1271012	+1	no_errors	ENST00000444172	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CLIP3	25999	genome.wustl.edu	37	19	36508864	36508864	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:36508864G>C	ENST00000360535.4	-	10	1440	c.1213C>G	c.(1213-1215)Ctg>Gtg	p.L405V	CLIP3_ENST00000593074.1_Missense_Mutation_p.L405V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	405					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGCTGCCCAGAGATGGGGAT	0.612																																																	0													70.0	69.0	69.0					19																	36508864		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1213C>G	19.37:g.36508864G>C	ENSP00000353732:p.Leu405Val		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.L405V	ENST00000360535.4	37	c.1213	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	G	8.104	0.777379	0.16120	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71817	-0.6	4.87	3.83	0.44106	Cytoskeleton-associated protein, Gly-rich domain (1);	0.376195	0.22758	N	0.055987	T	0.44244	0.1284	N	0.03608	-0.345	0.35314	D	0.784161	B	0.02656	0.0	B	0.01281	0.0	T	0.46965	-0.9153	10	0.30078	T	0.28	-4.2163	8.8241	0.35043	0.1016:0.0:0.8984:0.0	.	405	Q96DZ5	CLIP3_HUMAN	V	405;287;381	ENSP00000353732:L405V	ENSP00000353732:L405V	L	-	1	2	CLIP3	41200704	0.903000	0.30736	1.000000	0.80357	0.992000	0.81027	0.082000	0.14847	1.273000	0.44346	0.561000	0.74099	CTG	CLIP3	-	superfamily_CAP-Gly_domain		0.612	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	G	NM_015526		36508864	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	1.000	C
COL27A1	85301	genome.wustl.edu	37	9	117052563	117052563	+	Silent	SNP	C	C	T	rs201732921		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:117052563C>T	ENST00000356083.3	+	47	4711	c.4320C>T	c.(4318-4320)atC>atT	p.I1440I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1440	Collagen-like 13.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCGAGGGCATCGCTGGACCAG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		12870	0.0		0.001	False		,,,				2504	0.0																0								C		0,4384		0,0,2192	28.0	23.0	25.0		4320	-0.9	0.0	9		25	1,8573		0,1,4286	no	coding-synonymous	COL27A1	NM_032888.2		0,1,6478	TT,TC,CC		0.0117,0.0,0.0077		1440/1861	117052563	1,12957	2192	4287	6479	SO:0001819	synonymous_variant	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4320C>T	9.37:g.117052563C>T			Q66K43|Q96JF7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.I1440	ENST00000356083.3	37	c.4320	CCDS6802.1	9																																																																																			COL27A1	-	NULL		0.637	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	C	NM_032888		117052563	+1	no_errors	ENST00000356083	ensembl	human	known	70_37	silent	SNP	0.018	T
COL5A2	1290	genome.wustl.edu	37	2	189904002	189904002	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:189904002C>T	ENST00000374866.3	-	51	4195	c.3921G>A	c.(3919-3921)caG>caA	p.Q1307Q		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1307	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTCACCACTCTGCTTTGCGG	0.468																																																	0													111.0	112.0	111.0					2																	189904002		2203	4300	6503	SO:0001819	synonymous_variant	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3921G>A	2.37:g.189904002C>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.Q1307	ENST00000374866.3	37	c.3921	CCDS33350.1	2																																																																																			COL5A2	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C		0.468	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	C	NM_000393		189904002	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	silent	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	16960771	16960771	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:16960771C>T	ENST00000377833.4	-	45	6915	c.6850G>A	c.(6850-6852)Gat>Aat	p.D2284N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2284	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCACTCCATCCCGCAACTCA	0.413																																																	0													71.0	60.0	64.0					10																	16960771		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6850G>A	10.37:g.16960771C>T	ENSP00000367064:p.Asp2284Asn		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.D2284N	ENST00000377833.4	37	c.6850	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103614	0.37145	.	.	ENSG00000107611	ENST00000377833	T	0.43294	0.95	5.6	4.69	0.59074	CUB (5);	0.143324	0.32081	N	0.006605	T	0.37210	0.0995	L	0.46885	1.475	0.80722	D	1	B	0.27286	0.174	B	0.29716	0.106	T	0.17349	-1.0372	10	0.38643	T	0.18	.	12.0977	0.53765	0.0:0.8624:0.0:0.1376	.	2284	O60494	CUBN_HUMAN	N	2284	ENSP00000367064:D2284N	ENSP00000367064:D2284N	D	-	1	0	CUBN	17000777	0.816000	0.29132	0.967000	0.41034	0.310000	0.27922	1.665000	0.37449	2.627000	0.88993	0.650000	0.86243	GAT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16960771	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.989	T
CXXC1	30827	genome.wustl.edu	37	18	47810933	47810933	+	Splice_Site	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr18:47810933C>A	ENST00000285106.6	-	9	1735		c.e9-1		CXXC1_ENST00000412036.2_Splice_Site|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000382948.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCTCCTCCTTCTGTTGAGCAA	0.567																																																	0													140.0	140.0	140.0					18																	47810933		2203	4300	6503	SO:0001630	splice_region_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1021-1G>T	18.37:g.47810933C>A			B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	-	e9-1	ENST00000285106.6	37	c.1033-1	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253594	0.39797	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0894	0.64980	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXXC1	46064931	1.000000	0.71417	0.995000	0.50966	0.567000	0.35839	7.089000	0.76909	1.985000	0.57927	0.478000	0.44815	.	CXXC1	-	-		0.567	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	C	NM_014593	Intron	47810933	-1	no_errors	ENST00000412036	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CXorf22	170063	genome.wustl.edu	37	X	35993317	35993317	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:35993317C>G	ENST00000297866.5	+	14	2374	c.2308C>G	c.(2308-2310)Cta>Gta	p.L770V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	770										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATACTCATCTACTTCATGT	0.323																																																	0													104.0	96.0	99.0					X																	35993317		2202	4295	6497	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2308C>G	X.37:g.35993317C>G	ENSP00000297866:p.Leu770Val		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.L770V	ENST00000297866.5	37	c.2308	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	0.535	-0.856226	0.02630	.	.	ENSG00000165164	ENST00000297866	T	0.13778	2.56	5.25	-2.61	0.06171	.	1.016620	0.07873	N	0.968144	T	0.11495	0.0280	M	0.63428	1.95	0.09310	N	1	B	0.27559	0.181	B	0.26693	0.072	T	0.37454	-0.9705	10	0.25106	T	0.35	1.7398	1.8875	0.03241	0.1153:0.2459:0.3349:0.3039	.	770	Q6ZTR5	CX022_HUMAN	V	770	ENSP00000297866:L770V	ENSP00000297866:L770V	L	+	1	2	CXorf22	35903238	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.004000	0.03678	-0.799000	0.04439	-0.279000	0.10071	CTA	CXorf22	-	NULL		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	C	NM_152632		35993317	+1	no_errors	ENST00000297866	ensembl	human	known	70_37	missense	SNP	0.000	G
CYP2A6	1548	genome.wustl.edu	37	19	41352833	41352833	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:41352833C>T	ENST00000301141.5	-	5	798	c.778G>A	c.(778-780)Gat>Aat	p.D260N	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	260					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAATTGGGATCCAGCGTGCGC	0.582																																																	0													124.0	99.0	108.0					19																	41352833		2203	4300	6503	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.778G>A	19.37:g.41352833C>T	ENSP00000301141:p.Asp260Asn		A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.D260N	ENST00000301141.5	37	c.778	CCDS12568.1	19	.	.	.	.	.	.	.	.	.	.	-	22.7	4.330125	0.81690	.	.	ENSG00000255974	ENST00000301141	T	0.01369	4.97	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	L	0.47078	1.49	0.39043	D	0.960172	D;D	0.89917	1.0;0.999	D;D	0.91635	0.99;0.999	T	0.45745	-0.9240	10	0.66056	D	0.02	.	11.8917	0.52633	0.0:1.0:0.0:0.0	.	260;260	Q13120;P11509	.;CP2A6_HUMAN	N	260	ENSP00000301141:D260N	ENSP00000301141:D260N	D	-	1	0	CYP2A6	46044673	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.119000	0.64679	1.339000	0.45563	0.386000	0.25728	GAT	CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.582	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	C	NM_000762		41352833	-1	no_errors	ENST00000301141	ensembl	human	known	70_37	missense	SNP	1.000	T
DACH1	1602	genome.wustl.edu	37	13	72440795	72440795	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr13:72440795G>A	ENST00000359684.2	-	1	112	c.113C>T	c.(112-114)tCg>tTg	p.S38L	DACH1_ENST00000305425.4_Missense_Mutation_p.S38L|DACH1_ENST00000354591.4_Missense_Mutation_p.S38L|DACH1_ENST00000313174.7_Missense_Mutation_p.S38L			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	38					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCCGGAGACGAAGTCGCCGA	0.692																																																	0													21.0	28.0	26.0					13																	72440795		1968	4140	6108	SO:0001583	missense	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.113C>T	13.37:g.72440795G>A	ENSP00000352712:p.Ser38Leu		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S38L	ENST00000359684.2	37	c.113		13	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193702	0.38707	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.41400	1.05;1.0;1.1;1.13	3.22	3.22	0.36961	.	0.755128	0.12069	U	0.502415	T	0.27063	0.0663	N	0.19112	0.55	0.35846	D	0.826434	P;P;P	0.50443	0.935;0.935;0.723	B;B;B	0.39094	0.29;0.29;0.217	T	0.37888	-0.9686	10	0.72032	D	0.01	-2.2959	10.0634	0.42288	0.0:0.0:0.7986:0.2014	.	38;38;38	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	L	38	ENSP00000304994:S38L;ENSP00000318506:S38L;ENSP00000346604:S38L;ENSP00000352712:S38L	ENSP00000304994:S38L	S	-	2	0	DACH1	71338796	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.983000	0.56916	1.607000	0.50170	0.462000	0.41574	TCG	DACH1	-	NULL		0.692	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	G	NM_004392		72440795	-1	no_errors	ENST00000359684	ensembl	human	known	70_37	missense	SNP	1.000	A
DAPP1	27071	genome.wustl.edu	37	4	100761527	100761527	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:100761527G>C	ENST00000512369.1	+	3	374	c.306G>C	c.(304-306)ttG>ttC	p.L102F	DAPP1_ENST00000296414.7_Missense_Mutation_p.L102F	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	102	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCTCATCTTTGAAGGATTTTG	0.348																																																	0													61.0	56.0	58.0					4																	100761527		1818	4082	5900	SO:0001583	missense	27071			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.306G>C	4.37:g.100761527G>C	ENSP00000423602:p.Leu102Phe		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.L102F	ENST00000512369.1	37	c.306	CCDS47112.1	4	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146704	0.57151	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.92446	-3.04;-3.04	5.55	3.7	0.42460	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.93654	0.7973	H	0.95780	3.72	0.49483	D	0.999793	P;P;P	0.44195	0.828;0.738;0.779	B;B;B	0.43225	0.411;0.412;0.344	D	0.92859	0.6304	10	0.62326	D	0.03	1.724	6.6354	0.22879	0.3232:0.0:0.6768:0.0	.	102;102;102	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	F	102	ENSP00000296414:L102F;ENSP00000423602:L102F	ENSP00000296414:L102F	L	+	3	2	DAPP1	100980550	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.177000	0.31969	1.221000	0.43506	0.655000	0.94253	TTG	DAPP1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.348	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1	G			100761527	+1	no_errors	ENST00000512369	ensembl	human	known	70_37	missense	SNP	0.999	C
DCHS2	54798	genome.wustl.edu	37	4	155264710	155264710	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:155264710G>A	ENST00000357232.4	-	7	888	c.889C>T	c.(889-891)Cat>Tat	p.H297Y	DCHS2_ENST00000507542.1_Intron|DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	297	Cadherin 2. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tttaggtaatggagatggcgt	0.413																																																	0													69.0	70.0	70.0					4																	155264710		1327	2309	3636	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.889C>T	4.37:g.155264710G>A	ENSP00000349768:p.His297Tyr		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H297Y	ENST00000357232.4	37	c.889	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.903872	0.00057	.	.	ENSG00000197410	ENST00000357232	T	0.56444	0.46	0.593	-0.397	0.12423	Cadherin (1);	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26155	-1.0111	8	0.02654	T	1	.	.	.	.	.	297	Q6V1P9	PCD23_HUMAN	Y	297	ENSP00000349768:H297Y	ENSP00000349768:H297Y	H	-	1	0	DCHS2	155484160	0.008000	0.16893	0.009000	0.14445	0.008000	0.06430	0.529000	0.23019	-0.242000	0.09667	-0.237000	0.12165	CAT	DCHS2	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,pfscan_Cadherin		0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155264710	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.012	A
DDR1	780	genome.wustl.edu	37	6	30867038	30867038	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30867038C>T	ENST00000324771.8	+	20	3255	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	DDR1_ENST00000376567.2_Missense_Mutation_p.R866W|DDR1_ENST00000376575.3_Missense_Mutation_p.R909W|DDR1_ENST00000418800.2_Missense_Mutation_p.R866W|DDR1_ENST00000513240.1_Missense_Mutation_p.R909W|DDR1_ENST00000452441.1_Missense_Mutation_p.R903W|DDR1_ENST00000376570.4_Missense_Mutation_p.R866W|DDR1_ENST00000376568.3_Missense_Mutation_p.R903W|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Missense_Mutation_p.R866W|DDR1_ENST00000508312.1_Missense_Mutation_p.R884W|DDR1_ENST00000454612.2_Missense_Mutation_p.R866W			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	903	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCAGCTGCATCGGTTCCTGGC	0.617																																																	0													124.0	104.0	111.0					6																	30867038		2203	4300	6503	SO:0001583	missense	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.2707C>T	6.37:g.30867038C>T	ENSP00000318217:p.Arg903Trp		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R909W	ENST00000324771.8	37	c.2725	CCDS34385.1	6	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287105	0.59867	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	D;D;D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.99	4.12	0.48240	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.357917	0.25804	N	0.028189	D	0.88976	0.6584	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.69654	0.949;0.949;0.965	D	0.87937	0.2714	10	0.37606	T	0.19	.	12.573	0.56347	0.1674:0.8326:0.0:0.0	.	884;909;903	B7Z2K0;Q08345-5;Q08345	.;.;DDR1_HUMAN	W	903;866;866;866;909;866;903;903;884;866;909	ENSP00000318217:R903W;ENSP00000407699:R866W;ENSP00000406091:R866W;ENSP00000365753:R866W;ENSP00000365759:R909W;ENSP00000365754:R866W;ENSP00000365752:R903W;ENSP00000405039:R903W;ENSP00000422442:R884W;ENSP00000365751:R866W;ENSP00000427552:R909W	ENSP00000318217:R903W	R	+	1	2	DDR1	30975017	1.000000	0.71417	0.971000	0.41717	0.929000	0.56500	2.629000	0.46485	1.091000	0.41335	0.460000	0.39030	CGG	DDR1	-	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		0.617	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	C	NM_013994		30867038	+1	no_errors	ENST00000376575	ensembl	human	known	70_37	missense	SNP	0.991	T
DGCR6	8214	genome.wustl.edu	37	22	18898505	18898505	+	Silent	SNP	G	G	A	rs139739471	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:18898505G>A	ENST00000331444.6	+	4	629	c.477G>A	c.(475-477)gcG>gcA	p.A159A	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_Silent_p.A23A	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	159					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						TGGAGAAGGCGGGGGTGGCTG	0.642																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	83.0	69.0	74.0		477	-8.6	0.9	22	dbSNP_134	74	0,8592		0,0,4296	no	coding-synonymous	DGCR6	NM_005675.4		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		159/221	18898505	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	8214			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.477G>A	22.37:g.18898505G>A			B2RCH5|D3DX15|G5E9J8|Q9BY28	Silent	SNP	pfam_DGCR6	p.A159	ENST00000331444.6	37	c.477	CCDS13753.1	22																																																																																			DGCR6	-	pfam_DGCR6		0.642	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	G	NM_005675		18898505	+1	no_errors	ENST00000331444	ensembl	human	known	70_37	silent	SNP	0.220	A
DISP2	85455	genome.wustl.edu	37	15	40656682	40656682	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:40656682C>G	ENST00000267889.3	+	4	627	c.540C>G	c.(538-540)atC>atG	p.I180M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	180					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGCTGTCATCTTCCTCTGCA	0.617																																																	0													97.0	87.0	91.0					15																	40656682		2203	4300	6503	SO:0001583	missense	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.540C>G	15.37:g.40656682C>G	ENSP00000267889:p.Ile180Met		Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.I180M	ENST00000267889.3	37	c.540	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356668	0.41801	.	.	ENSG00000140323	ENST00000267889	T	0.13657	2.57	5.01	3.1	0.35709	.	0.352881	0.30446	N	0.009618	T	0.13500	0.0327	L	0.59436	1.845	0.09310	N	1	P	0.37636	0.603	B	0.39258	0.295	T	0.17410	-1.0370	10	0.72032	D	0.01	-11.3515	4.1103	0.10055	0.2884:0.4682:0.0:0.2434	.	180	A7MBM2	DISP2_HUMAN	M	180	ENSP00000267889:I180M	ENSP00000267889:I180M	I	+	3	3	DISP2	38443974	0.000000	0.05858	0.997000	0.53966	0.624000	0.37722	-0.379000	0.07437	1.356000	0.45884	0.462000	0.41574	ATC	DISP2	-	NULL		0.617	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	C	NM_033510		40656682	+1	no_errors	ENST00000267889	ensembl	human	known	70_37	missense	SNP	0.034	G
DNMBP	23268	genome.wustl.edu	37	10	101637012	101637012	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:101637012C>T	ENST00000324109.4	-	17	4721	c.4630G>A	c.(4630-4632)Gag>Aag	p.E1544K	DNMBP_ENST00000540316.1_Missense_Mutation_p.E480K|DNMBP_ENST00000342239.3_Missense_Mutation_p.E1568K|DNMBP_ENST00000543621.1_Missense_Mutation_p.E790K	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1544	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTTAAACTCGAGGATCTTG	0.468																																																	0													202.0	184.0	190.0					10																	101637012		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4630G>A	10.37:g.101637012C>T	ENSP00000315659:p.Glu1544Lys		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.E1568K	ENST00000324109.4	37	c.4702	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504461	0.85176	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.29	5.29	0.74685	Src homology-3 domain (4);	0.136830	0.33290	N	0.005068	T	0.67878	0.2940	L	0.39566	1.225	0.47511	D	0.999446	P;P;D	0.55800	0.953;0.884;0.973	P;B;P	0.52109	0.542;0.165;0.69	T	0.69296	-0.5182	10	0.49607	T	0.09	-6.3636	14.8643	0.70404	0.0:0.8139:0.1861:0.0	.	1544;790;1568	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	K	1568;1544;790;790;480	ENSP00000344914:E1568K;ENSP00000315659:E1544K;ENSP00000443657:E790K;ENSP00000443573:E480K	ENSP00000315659:E1544K	E	-	1	0	DNMBP	101627002	0.999000	0.42202	0.996000	0.52242	0.994000	0.84299	3.995000	0.57001	2.464000	0.83262	0.491000	0.48974	GAG	DNMBP	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.468	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	C	NM_015221		101637012	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	1.000	T
DPCR1	135656	genome.wustl.edu	37	6	30918216	30918216	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30918216G>A	ENST00000462446.1	+	2	2003	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	228						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ATTCCCAGCAGAGCCTACAGA	0.478																																																	0													139.0	155.0	150.0					6																	30918216		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1975G>A	6.37:g.30918216G>A	ENSP00000417182:p.Glu659Lys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.E659K	ENST00000462446.1	37	c.1975	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	6.304	0.424135	0.11928	.	.	ENSG00000168631	ENST00000462446	T	0.45276	0.9	1.55	-3.1	0.05315	.	.	.	.	.	T	0.06096	0.0158	N	0.17082	0.46	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.38802	-0.9644	9	0.09590	T	0.72	.	6.0001	0.19515	0.4388:0.0:0.5612:0.0	.	659	E9PEI6	.	K	659	ENSP00000417182:E659K	ENSP00000417182:E659K	E	+	1	0	DPCR1	31026195	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.229000	0.09098	-0.783000	0.04534	0.109000	0.15622	GAG	DPCR1	-	NULL		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	G	NM_080870		30918216	+1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.000	A
DUOX1	53905	genome.wustl.edu	37	15	45430180	45430180	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:45430180C>T	ENST00000321429.4	+	11	1488	c.1081C>T	c.(1081-1083)Ctc>Ttc	p.L361F	DUOX1_ENST00000561166.1_5'Flank|DUOX1_ENST00000389037.3_Missense_Mutation_p.L361F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	361	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCCAGAGCTCTCCGGGTCTG	0.537																																																	0													83.0	81.0	82.0					15																	45430180		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1081C>T	15.37:g.45430180C>T	ENSP00000317997:p.Leu361Phe		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.L361F	ENST00000321429.4	37	c.1081	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758551	0.69763	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.71817	-0.6;-0.6	4.6	4.6	0.57074	.	0.280494	0.35555	N	0.003135	T	0.81791	0.4897	M	0.85542	2.76	0.51767	D	0.99993	D	0.56746	0.977	P	0.62560	0.904	D	0.83475	0.0061	10	0.66056	D	0.02	-35.9868	8.803	0.34920	0.0:0.8987:0.0:0.1013	.	361	Q9NRD9	DUOX1_HUMAN	F	361	ENSP00000317997:L361F;ENSP00000373689:L361F	ENSP00000317997:L361F	L	+	1	0	DUOX1	43217472	0.019000	0.18553	1.000000	0.80357	0.991000	0.79684	0.005000	0.13129	2.538000	0.85594	0.563000	0.77884	CTC	DUOX1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.537	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	C	NM_017434		45430180	+1	no_errors	ENST00000321429	ensembl	human	known	70_37	missense	SNP	1.000	T
DYM	54808	genome.wustl.edu	37	18	46808458	46808458	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr18:46808458G>A	ENST00000269445.6	-	10	1491	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	DYM_ENST00000442713.2_Missense_Mutation_p.S155F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	345					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TGCTTGATCAGATGTCTGCTG	0.388																																																	0													125.0	116.0	119.0					18																	46808458		2203	4300	6503	SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1034C>T	18.37:g.46808458G>A	ENSP00000269445:p.Ser345Phe		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.S345F	ENST00000269445.6	37	c.1034	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921895	0.73213	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	T;D	0.82619	0.83;-1.63	5.53	5.53	0.82687	.	0.149747	0.64402	D	0.000006	D	0.90167	0.6927	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.996	P;D;P	0.70016	0.864;0.967;0.897	D	0.88234	0.2905	10	0.37606	T	0.19	-12.7628	19.8787	0.96886	0.0:0.0:1.0:0.0	.	155;167;345	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	F	155;345	ENSP00000395942:S155F;ENSP00000269445:S345F	ENSP00000269445:S345F	S	-	2	0	DYM	45062456	1.000000	0.71417	0.741000	0.31004	0.925000	0.55904	7.811000	0.86092	2.776000	0.95493	0.579000	0.79373	TCT	DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold		0.388	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	G	NM_017653		46808458	-1	no_errors	ENST00000269445	ensembl	human	known	70_37	missense	SNP	1.000	A
DYNC1I1	1780	genome.wustl.edu	37	7	95705393	95705393	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:95705393G>A	ENST00000324972.6	+	15	1778	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.E512K|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.E512K|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.E509K|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.E492K|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.E492K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	529					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTACTCCTTTGAAGACAATGC	0.542											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													160.0	136.0	144.0					7																	95705393		2203	4300	6503	SO:0001583	missense	1780			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1585G>A	7.37:g.95705393G>A	ENSP00000320130:p.Glu529Lys	1315	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E529K	ENST00000324972.6	37	c.1585	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.434682	0.96150	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38	4.38	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	M	0.90650	3.135	0.80722	D	1	D;D;D;D;P	0.57899	0.963;0.979;0.979;0.981;0.899	P;D;D;P;P	0.67725	0.899;0.923;0.953;0.792;0.676	T	0.17653	-1.0362	10	0.32370	T	0.25	-9.6715	17.1014	0.86651	0.0:0.0:1.0:0.0	.	512;509;512;529;492	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	K	512;529;492;509;492;512	ENSP00000392337:E512K;ENSP00000320130:E529K;ENSP00000438377:E492K;ENSP00000398118:E509K;ENSP00000352348:E492K;ENSP00000412444:E512K	ENSP00000320130:E529K	E	+	1	0	DYNC1I1	95543329	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.513000	0.98010	2.452000	0.82932	0.313000	0.20887	GAA	DYNC1I1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.542	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	G	NM_004411		95705393	+1	no_errors	ENST00000324972	ensembl	human	known	70_37	missense	SNP	1.000	A
DYRK4	8798	genome.wustl.edu	37	12	4682343	4682343	+	3'UTR	SNP	A	A	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:4682343A>C	ENST00000539490.1	+	0	426							Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCAAGTTAACATTAAAAC	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	8798			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000539490.1:c.*423A>C	12.37:g.4682343A>C			A8K8F7|Q8NEF2|Q92631	RNA	SNP	-	NULL	ENST00000539490.1	37	NULL		12																																																																																			DYRK4	-	-		0.323	DYRK4-010	KNOWN	basic	processed_transcript	DYRK4	HGNC	protein_coding	OTTHUMT00000398779.1	A			4682343	+1	no_errors	ENST00000539490	ensembl	human	known	70_37	rna	SNP	0.001	C
EFCAB6	64800	genome.wustl.edu	37	22	43950956	43950956	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:43950956C>G	ENST00000262726.7	-	27	3694	c.3441G>C	c.(3439-3441)gaG>gaC	p.E1147D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.E995D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGGGCATTTTCTCAGCCCACT	0.542																																																	0													61.0	57.0	58.0					22																	43950956		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3441G>C	22.37:g.43950956C>G	ENSP00000262726:p.Glu1147Asp		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E1147D	ENST00000262726.7	37	c.3441	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334610	0.41297	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14766	2.51;2.48	4.88	3.81	0.43845	.	0.068137	0.56097	D	0.000022	T	0.26122	0.0637	L	0.55103	1.725	0.80722	D	1	D;P	0.76494	0.999;0.73	D;B	0.69142	0.962;0.188	T	0.01301	-1.1391	10	0.15952	T	0.53	-31.0974	11.8051	0.52150	0.1739:0.8261:0.0:0.0	.	995;1147	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	D	995;1147	ENSP00000379533:E995D;ENSP00000262726:E1147D	ENSP00000262726:E1147D	E	-	3	2	EFCAB6	42282289	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.167000	0.31847	2.532000	0.85374	0.655000	0.94253	GAG	EFCAB6	-	NULL		0.542	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		43950956	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	1.000	G
EFHC1	114327	genome.wustl.edu	37	6	52288785	52288785	+	Missense_Mutation	SNP	C	C	A	rs534406651		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:52288785C>A	ENST00000371068.5	+	2	208	c.105C>A	c.(103-105)aaC>aaA	p.N35K	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.N16K|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	35						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GCTACAGGAACGGCTATGCAA	0.458																																																	0													91.0	87.0	88.0					6																	52288785		2203	4300	6503	SO:0001583	missense	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.105C>A	6.37:g.52288785C>A	ENSP00000360107:p.Asn35Lys		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.N35K	ENST00000371068.5	37	c.105	CCDS4942.1	6	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643870	0.47258	.	.	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.69926	-0.12;-0.44	5.98	-12.0	0.00017	.	0.186193	0.56097	D	0.000038	T	0.39306	0.1073	L	0.56124	1.755	0.80722	D	1	P;B	0.44521	0.837;0.377	B;B	0.43838	0.433;0.171	T	0.73122	-0.4082	10	0.37606	T	0.19	-13.4085	12.6003	0.56492	0.0844:0.4995:0.0:0.4161	.	16;35	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	K	35;16	ENSP00000360107:N35K;ENSP00000444521:N16K	ENSP00000360107:N35K	N	+	3	2	EFHC1	52396744	0.004000	0.15560	0.492000	0.27490	0.969000	0.65631	-1.455000	0.02379	-2.067000	0.00885	-1.128000	0.01989	AAC	EFHC1	-	NULL		0.458	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHC1	HGNC	protein_coding	OTTHUMT00000040905.2	C	NM_018100		52288785	+1	no_errors	ENST00000371068	ensembl	human	known	70_37	missense	SNP	0.168	A
ELN	2006	genome.wustl.edu	37	7	73457475	73457475	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:73457475G>A	ENST00000252034.7	+	8	803	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ELN_ENST00000458204.1_Missense_Mutation_p.G125E|ELN_ENST00000320399.6_Missense_Mutation_p.G135E|ELN_ENST00000357036.5_Missense_Mutation_p.G140E|ELN_ENST00000380584.4_Missense_Mutation_p.G135E|ELN_ENST00000429192.1_Missense_Mutation_p.G140E|ELN_ENST00000414324.1_Missense_Mutation_p.G130E|ELN_ENST00000445912.1_Missense_Mutation_p.G135E|ELN_ENST00000358929.4_Missense_Mutation_p.G135E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Missense_Mutation_p.G125E|ELN_ENST00000320492.7_Missense_Mutation_p.G123E|ELN_ENST00000380562.4_Missense_Mutation_p.G135E|ELN_ENST00000380576.5_Missense_Mutation_p.G135E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	135					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTGGAGCCGGAGTGAAGCCT	0.647			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													79.0	63.0	68.0					7																	73457475		2203	4300	6503	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.404G>A	7.37:g.73457475G>A	ENSP00000252034:p.Gly135Glu		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G135E	ENST00000252034.7	37	c.404	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265625	0.40095	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;D;T;D;T;T	0.82803	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;-1.65;0.86;-1.65;0.86;0.86	4.95	1.79	0.24919	.	.	.	.	.	T	0.81351	0.4804	M	0.67953	2.075	0.24675	N	0.993399	P;P;P;P;P;P;P;P;P;P;P;P;P	0.52061	0.95;0.899;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	P;P;P;P;P;P;P;P;P;P;P;P;P	0.50708	0.648;0.571;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648;0.648	T	0.68682	-0.5344	9	0.08381	T	0.77	.	7.0456	0.25044	0.0:0.3194:0.4721:0.2086	.	135;104;123;130;125;135;125;140;140;135;125;135;135	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	E	135;135;135;113;123;123;130;135;125;135;125;140;135;140;104;135;135;135	ENSP00000389857:G135E;ENSP00000252034:G135E;ENSP00000351807:G135E;ENSP00000394549:G113E;ENSP00000315607:G123E;ENSP00000406949:G123E;ENSP00000392575:G130E;ENSP00000369936:G135E;ENSP00000369949:G125E;ENSP00000369958:G135E;ENSP00000403162:G125E;ENSP00000349540:G140E;ENSP00000411092:G135E;ENSP00000391129:G140E;ENSP00000403961:G135E;ENSP00000369950:G135E;ENSP00000313565:G135E	ENSP00000252034:G135E	G	+	2	0	ELN	73095411	0.036000	0.19791	0.312000	0.25196	0.721000	0.41392	0.388000	0.20735	0.454000	0.26884	0.298000	0.19748	GGA	ELN	-	NULL		0.647	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	G	NM_000501		73457475	+1	no_errors	ENST00000358929	ensembl	human	known	70_37	missense	SNP	0.548	A
LOC101927648	101927648	genome.wustl.edu	37	1	143355622	143355622	+	lincRNA	SNP	G	G	T	rs200345431		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:143355622G>T	ENST00000423249.1	-	0	1129				RP11-435B5.3_ENST00000430699.1_lincRNA																							TCAAAGTATAGGTCTGAATCA	0.363																																																	0																																												0																															1.37:g.143355622G>T				RNA	SNP	-	NULL	ENST00000423249.1	37	NULL		1																																																																																			BX004987.4	-	-		0.363	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000185044	Clone_based_vega_gene	lincRNA	OTTHUMT00000037552.1	G			143355622	-1	no_errors	ENST00000423249	ensembl	human	known	70_37	rna	SNP	0.001	T
ZNF770	54989	genome.wustl.edu	37	15	35271839	35271839	+	3'UTR	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:35271839G>C	ENST00000356321.4	-	0	4141				AC114546.1_ENST00000391457.2_Missense_Mutation_p.Q22H	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GAAGCAAGCAGATCACCCCCA	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.*1721C>G	15.37:g.35271839G>C			Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	NULL	p.Q22H	ENST00000356321.4	37	c.66	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	g	6.670	0.492166	0.12702	.	.	ENSG00000212768	ENST00000391457	.	.	.	4.0	3.07	0.35406	.	.	.	.	.	T	0.44891	0.1315	.	.	.	0.19775	N	0.999955	.	.	.	.	.	.	T	0.37526	-0.9702	5	0.87932	D	0	.	9.0966	0.36642	0.0:0.0:0.7817:0.2183	.	.	.	.	H	22	.	ENSP00000375288:Q22H	Q	+	3	2	AC114546.1	33059131	0.004000	0.15560	0.016000	0.15963	0.029000	0.11900	-0.002000	0.12924	1.231000	0.43661	0.655000	0.94253	CAG	AC114546.1	-	NULL		0.393	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000212768	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000251896.2	G	NM_014106		35271839	+1	no_errors	ENST00000391457	ensembl	human	known	70_37	missense	SNP	0.022	C
LINC01347	731275	genome.wustl.edu	37	1	243211121	243211121	+	lincRNA	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:243211121G>A	ENST00000450226.1	-	0	136																											TCTCTTCCTCGAGCCTCCTTA	0.418																																																	0																																												0																															1.37:g.243211121G>A				RNA	SNP	-	NULL	ENST00000450226.1	37	NULL		1																																																																																			RP11-261C10.2	-	-		0.418	RP11-261C10.2-003	KNOWN	basic	lincRNA	ENSG00000231512	Clone_based_vega_gene	lincRNA	OTTHUMT00000096161.1	G			243211121	-1	no_errors	ENST00000420830	ensembl	human	known	70_37	rna	SNP	1.000	A
AKAP13	11214	genome.wustl.edu	37	15	86287916	86287916	+	3'UTR	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:86287916C>T	ENST00000394518.2	+	0	8545				AKAP13_ENST00000361243.2_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGACCCTCTTCCTCTCTGCTG	0.532																																					Melanoma(94;603 1453 3280 32295 32951)												0													97.0	96.0	97.0					15																	86287916		2202	4299	6501	SO:0001624	3_prime_UTR_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.*8C>T	15.37:g.86287916C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	RNA	SNP	-	NULL	ENST00000394518.2	37	NULL	CCDS32319.1	15																																																																																			RP11-158M2.3	-	-		0.532	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000259407	Clone_based_vega_gene	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86287916	-1	no_errors	ENST00000558375	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00923	91948	genome.wustl.edu	37	15	98417324	98417324	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:98417324G>A	ENST00000503874.3	-	1	456	c.192C>T	c.(190-192)ctC>ctT	p.L64L	RP11-753A21.2_ENST00000562480.1_RNA|LINC00923_ENST00000558179.1_5'Flank					long intergenic non-protein coding RNA 923																		GAATGAACAGGAGCAAATGGG	0.483																																																	0																																										SO:0001819	synonymous_variant	0			AK025311, BC105717		15q26.2	2013-05-24			ENSG00000251209	ENSG00000251209		"""Long non-coding RNAs"""	28088	non-coding RNA	RNA, long non-coding							Standard	NR_024172		Approved				OTTHUMG00000172044	ENST00000503874.3:c.192C>T	15.37:g.98417324G>A				Silent	SNP	NULL	p.L64	ENST00000503874.3	37	c.192		15																																																																																			RP11-82I10.1	-	NULL		0.483	LINC00923-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000251209	Clone_based_vega_gene	protein_coding	OTTHUMT00000416595.1	G	NR_024172		98417324	-1	no_errors	ENST00000503768	ensembl	human	known	70_37	silent	SNP	0.023	A
EP300	2033	genome.wustl.edu	37	22	41558764	41558764	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:41558764G>T	ENST00000263253.7	+	21	4928	c.3709G>T	c.(3709-3711)Gac>Tac	p.D1237Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1237					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGAAAAAATGACACACTGGA	0.373			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Deletion - In frame(1)	breast(1)											134.0	126.0	129.0					22																	41558764		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3709G>T	22.37:g.41558764G>T	ENSP00000263253:p.Asp1237Tyr		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1237Y	ENST00000263253.7	37	c.3709	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065790	0.76187	.	.	ENSG00000100393	ENST00000263253	D	0.86865	-2.18	5.8	5.8	0.92144	.	0.000000	0.48286	D	0.000182	D	0.95348	0.8490	M	0.92219	3.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.95855	0.8878	10	0.87932	D	0	-11.0906	19.0392	0.92991	0.0:0.0:1.0:0.0	.	1237	Q09472	EP300_HUMAN	Y	1237	ENSP00000263253:D1237Y	ENSP00000263253:D1237Y	D	+	1	0	EP300	39888710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.981000	0.93465	2.740000	0.93945	0.650000	0.86243	GAC	EP300	-	superfamily_Znf_FYVE_PHD		0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41558764	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	T
EP300	2033	genome.wustl.edu	37	22	41572405	41572405	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:41572405G>A	ENST00000263253.7	+	30	6153	c.4934G>A	c.(4933-4935)cGa>cAa	p.R1645Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1645	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTTCACTCCGAAGAGCCCAG	0.557			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													96.0	78.0	84.0					22																	41572405		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4934G>A	22.37:g.41572405G>A	ENSP00000263253:p.Arg1645Gln		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1645Q	ENST00000263253.7	37	c.4934	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535144	0.64972	.	.	ENSG00000100393	ENST00000263253	D	0.93366	-3.21	5.03	4.02	0.46733	.	0.000000	0.40728	N	0.001033	D	0.94145	0.8122	H	0.94542	3.55	0.44330	D	0.997212	B	0.31503	0.326	B	0.18561	0.022	D	0.93703	0.7017	10	0.87932	D	0	-9.5464	13.7584	0.62950	0.075:0.0:0.925:0.0	.	1645	Q09472	EP300_HUMAN	Q	1645	ENSP00000263253:R1645Q	ENSP00000263253:R1645Q	R	+	2	0	EP300	39902351	1.000000	0.71417	0.073000	0.20177	0.994000	0.84299	9.869000	0.99810	1.255000	0.44051	-0.145000	0.13849	CGA	EP300	-	NULL		0.557	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41572405	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	0.998	A
EPHB3	2049	genome.wustl.edu	37	3	184294866	184294866	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:184294866G>A	ENST00000330394.2	+	5	1701	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	417	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCATCTGCTGGCCCACACGCG	0.632																																																	0													60.0	59.0	59.0					3																	184294866		2203	4300	6503	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1249G>A	3.37:g.184294866G>A	ENSP00000332118:p.Ala417Thr		Q7Z740	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A417T	ENST00000330394.2	37	c.1249	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.498674	0.96355	.	.	ENSG00000182580	ENST00000330394	T	0.58506	0.33	5.29	5.29	0.74685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.86953	2.85	0.80722	D	1	D	0.62365	0.991	D	0.65443	0.935	T	0.82633	-0.0361	10	0.72032	D	0.01	.	18.2665	0.90054	0.0:0.0:1.0:0.0	.	417	P54753	EPHB3_HUMAN	T	417	ENSP00000332118:A417T	ENSP00000332118:A417T	A	+	1	0	EPHB3	185777560	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.814000	0.99346	2.636000	0.89361	0.448000	0.29417	GCC	EPHB3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184294866	+1	no_errors	ENST00000330394	ensembl	human	known	70_37	missense	SNP	1.000	A
EPRS	2058	genome.wustl.edu	37	1	220205772	220205772	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:220205772G>A	ENST00000366923.3	-	5	754	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	162					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGTACCTACTGACTGGAAGGC	0.433																																																	0													110.0	101.0	104.0					1																	220205772		2203	4300	6503	SO:0001583	missense	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.485C>T	1.37:g.220205772G>A	ENSP00000355890:p.Ser162Leu		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.S162L	ENST00000366923.3	37	c.485	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831893	0.50845	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.07114	3.22	5.84	3.96	0.45880	Glutathione S-transferase, C-terminal-like (2);	0.125334	0.56097	N	0.000039	T	0.12689	0.0308	M	0.77820	2.39	0.40680	D	0.982291	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.02781	-1.1111	10	0.40728	T	0.16	-7.8305	11.4192	0.49971	0.1428:0.0:0.8572:0.0	.	162;162	Q3KQZ8;P07814	.;SYEP_HUMAN	L	162	ENSP00000355890:S162L	ENSP00000355890:S162L	S	-	2	0	EPRS	218272395	1.000000	0.71417	0.769000	0.31535	0.795000	0.44927	3.718000	0.54919	1.485000	0.48380	0.557000	0.71058	TCA	EPRS	-	superfamily_Glutathione-S-Trfase_C-like		0.433	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	G	NM_004446		220205772	-1	no_errors	ENST00000366923	ensembl	human	known	70_37	missense	SNP	0.994	A
F10	2159	genome.wustl.edu	37	13	113803395	113803395	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr13:113803395C>A	ENST00000375559.3	+	8	1069	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	344	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GCCTGCCTCCCCGAGCGTGAC	0.647																																																	0													96.0	78.0	84.0					13																	113803395		2203	4300	6503	SO:0001583	missense	2159				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1031C>A	13.37:g.113803395C>A	ENSP00000364709:p.Pro344His		Q14340	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.P344H	ENST00000375559.3	37	c.1031	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956917	0.73902	.	.	ENSG00000126218	ENST00000375559	D	0.95205	-3.64	5.25	5.25	0.73442	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99490	1.0950	10	0.87932	D	0	.	18.867	0.92296	0.0:1.0:0.0:0.0	.	344	P00742	FA10_HUMAN	H	344	ENSP00000364709:P344H	ENSP00000364709:P344H	P	+	2	0	F10	112851396	0.996000	0.38824	0.992000	0.48379	0.229000	0.25112	4.696000	0.61774	2.445000	0.82738	0.563000	0.77884	CCC	F10	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6		0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	C			113803395	+1	no_errors	ENST00000375559	ensembl	human	known	70_37	missense	SNP	1.000	A
AMER1	139285	genome.wustl.edu	37	X	63412416	63412416	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:63412416C>T	ENST00000330258.3	-	2	1023	c.751G>A	c.(751-753)Gag>Aag	p.E251K	AMER1_ENST00000374869.3_Missense_Mutation_p.E251K|AMER1_ENST00000403336.1_Missense_Mutation_p.E251K	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	251					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCCATTTTCTCAGTAGCTGGT	0.537																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											98.0	99.0	98.0					X																	63412416		2203	4299	6502	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.751G>A	X.37:g.63412416C>T	ENSP00000329117:p.Glu251Lys		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E251K	ENST00000330258.3	37	c.751	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	C	5.818	0.335174	0.11013	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18016	2.24;2.24;2.24	5.22	3.47	0.39725	.	0.638579	0.16128	N	0.228330	T	0.16599	0.0399	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.30238	-0.9985	10	0.15952	T	0.53	-3.0831	10.0414	0.42160	0.0:0.8305:0.0:0.1695	.	251	Q5JTC6	F123B_HUMAN	K	251	ENSP00000364003:E251K;ENSP00000329117:E251K;ENSP00000384722:E251K	ENSP00000329117:E251K	E	-	1	0	FAM123B	63329141	0.000000	0.05858	0.014000	0.15608	0.044000	0.14063	0.467000	0.22035	0.689000	0.31550	-0.192000	0.12808	GAG	FAM123B	-	pfam_Uncharacterised_FAM123		0.537	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	C	NM_152424		63412416	-1	no_errors	ENST00000330258	ensembl	human	known	70_37	missense	SNP	0.022	T
FAM149B1	317662	genome.wustl.edu	37	10	74992909	74992909	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:74992909G>A	ENST00000242505.6	+	10	1514	c.1340G>A	c.(1339-1341)aGa>aAa	p.R447K		NM_173348.1	NP_775483.1	Q96BN6	F149B_HUMAN	family with sequence similarity 149, member B1	447										breast(2)|endometrium(1)|kidney(1)|stomach(3)	7						GAAATCCTCAGAGGAGCCCGA	0.428																																																	0													59.0	49.0	52.0					10																	74992909		692	1591	2283	SO:0001583	missense	317662			AB023191	CCDS44435.1	10q22.2	2008-10-27	2007-11-14	2007-11-14	ENSG00000138286	ENSG00000138286			29162	protein-coding gene	gene with protein product			"""KIAA0974"""	KIAA0974		10231032	Standard	NM_173348		Approved		uc009xqz.3	Q96BN6	OTTHUMG00000067794	ENST00000242505.6:c.1340G>A	10.37:g.74992909G>A	ENSP00000242505:p.Arg447Lys		Q9Y2I0	Missense_Mutation	SNP	pfam_DUF3719	p.R447K	ENST00000242505.6	37	c.1340	CCDS44435.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259741|4.259741	0.80246|0.80246	.|.	.|.	ENSG00000138286|ENSG00000138286	ENST00000372955|ENST00000242505;ENST00000429173;ENST00000445951	.|T;T	.|0.46451	.|0.87;0.87	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.089937	.|0.85682	.|D	.|0.000000	T|T	0.64638|0.64638	0.2616|0.2616	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.999;0.999;1.0	.|D;D;D;D	.|0.87578	.|0.937;0.994;0.987;0.998	T|T	0.65717|0.65717	-0.6100|-0.6100	5|10	.|0.72032	.|D	.|0.01	-0.1904|-0.1904	15.8168|15.8168	0.78608|0.78608	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|425;237;447;439	.|B4E0M2;B3KN32;Q96BN6;Q96BN6-2	.|.;.;F149B_HUMAN;.	K|K	380|447;237;242	.|ENSP00000242505:R447K;ENSP00000402293:R242K	.|ENSP00000242505:R447K	E|R	+|+	1|2	0|0	FAM149B1|FAM149B1	74662915|74662915	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.581000|0.581000	0.36288|0.36288	3.983000|3.983000	0.56916|0.56916	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GAG|AGA	FAM149B1	-	NULL		0.428	FAM149B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM149B1	HGNC	protein_coding	OTTHUMT00000145438.1	G	NM_173348		74992909	+1	no_errors	ENST00000242505	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM172A	83989	genome.wustl.edu	37	5	93217310	93217310	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:93217310C>G	ENST00000395965.3	-	7	794	c.652G>C	c.(652-654)Gat>Cat	p.D218H	FAM172A_ENST00000505869.1_Missense_Mutation_p.D108H|FAM172A_ENST00000509163.1_Missense_Mutation_p.D172H|FAM172A_ENST00000509739.1_Missense_Mutation_p.D71H	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	218						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCTGAACTATCAGATGATGAC	0.353																																																	0													189.0	179.0	182.0					5																	93217310		2203	4299	6502	SO:0001583	missense	83989				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.652G>C	5.37:g.93217310C>G	ENSP00000379294:p.Asp218His		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.D218H	ENST00000395965.3	37	c.652	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355677	0.82243	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.42900	0.96;2.31;2.31;0.96	4.63	4.63	0.57726	Arb2 domain (1);	0.051369	0.85682	D	0.000000	T	0.49508	0.1561	N	0.19112	0.55	0.80722	D	1	D;P;D;D	0.89917	0.999;0.693;0.989;1.0	D;P;P;D	0.68483	0.958;0.606;0.866;0.948	T	0.53251	-0.8465	10	0.45353	T	0.12	-18.7085	17.8276	0.88671	0.0:1.0:0.0:0.0	.	71;108;218;218	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	H	218;108;71;172	ENSP00000379294:D218H;ENSP00000426284:D108H;ENSP00000421834:D71H;ENSP00000423841:D172H	ENSP00000379294:D218H	D	-	1	0	FAM172A	93243066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.691000	0.74573	2.273000	0.75805	0.650000	0.86243	GAT	FAM172A	-	pfam_Arb2_domain		0.353	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	C	NM_032042		93217310	-1	no_errors	ENST00000395965	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM45A	404636	genome.wustl.edu	37	10	120871374	120871374	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:120871374C>G	ENST00000361432.2	+	3	292	c.266C>G	c.(265-267)tCt>tGt	p.S89C	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.S89C	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	89										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACTCATTTTTCTATTGTCCTG	0.294																																																	0													136.0	135.0	136.0					10																	120871374		2203	4299	6502	SO:0001583	missense	404636			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.266C>G	10.37:g.120871374C>G	ENSP00000354688:p.Ser89Cys		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	pfam_Secretory_pathway_prot_Avl9	p.S89C	ENST00000361432.2	37	c.266	CCDS7609.1	10	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382889	0.82792	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77916	0.4202	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.987	T	0.80134	-0.1509	9	0.87932	D	0	.	17.196	0.86892	0.0:1.0:0.0:0.0	.	16;81;89	B4DNL9;Q8TCE6-2;Q8TCE6	.;.;FA45A_HUMAN	C	89	.	ENSP00000354688:S89C	S	+	2	0	FAM45A	120861364	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.725000	0.74752	2.570000	0.86706	0.563000	0.77884	TCT	FAM45A	-	NULL		0.294	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1	C	NM_207009		120871374	+1	no_errors	ENST00000361432	ensembl	human	known	70_37	missense	SNP	1.000	G
BRINP3	339479	genome.wustl.edu	37	1	190067983	190067983	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:190067983T>C	ENST00000367462.3	-	8	1697	c.1466A>G	c.(1465-1467)gAa>gGa	p.E489G	BRINP3_ENST00000534846.1_Missense_Mutation_p.E387G	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	489					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAGGTCAGTTTCAAAGCCAAT	0.517																																																	0													157.0	156.0	156.0					1																	190067983		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1466A>G	1.37:g.190067983T>C	ENSP00000356432:p.Glu489Gly		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.E489G	ENST00000367462.3	37	c.1466	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656224	0.67586	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.55588	0.51;0.51	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.968	T	0.74231	-0.3732	10	0.72032	D	0.01	.	14.0112	0.64498	0.0:0.0:0.0:1.0	.	387;489	B7Z260;Q76B58	.;FAM5C_HUMAN	G	489;387	ENSP00000356432:E489G;ENSP00000438022:E387G	ENSP00000356432:E489G	E	-	2	0	FAM5C	188334606	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.953000	0.87836	2.190000	0.69967	0.482000	0.46254	GAA	FAM5C	-	NULL		0.517	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	T	NM_199051		190067983	-1	no_errors	ENST00000367462	ensembl	human	known	70_37	missense	SNP	1.000	C
RMDN1	51115	genome.wustl.edu	37	8	87517501	87517501	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:87517501C>T	ENST00000406452.3	-	2	407				RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000430676.2_Intron|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000518772.1_5'UTR	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1							microtubule (GO:0005874)|mitochondrion (GO:0005739)											ACATTCTCTTCTGCTTAGGAG	0.423																																																	0																																										SO:0001627	intron_variant	51115			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.247+1722G>A	8.37:g.87517501C>T			A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	RNA	SNP	-	NULL	ENST00000406452.3	37	NULL	CCDS34918.1	8																																																																																			FAM82B	-	-		0.423	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82B	HGNC	protein_coding	OTTHUMT00000374770.2	C	NM_016033		87517501	-1	no_errors	ENST00000518772	ensembl	human	putative	70_37	rna	SNP	0.019	T
FBXW4	6468	genome.wustl.edu	37	10	103427677	103427677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:103427677G>A	ENST00000331272.7	-	5	1354	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	246					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)		p.D245fs*14(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GACCAGACTCGGTCTTCAGTC	0.488																																																	1	Deletion - Frameshift(1)	breast(1)											135.0	133.0	133.0					10																	103427677		2203	4300	6503	SO:0001587	stop_gained	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.736C>T	10.37:g.103427677G>A	ENSP00000359149:p.Arg246*		Q5SVS1|Q96IM6	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R246*	ENST00000331272.7	37	c.736	CCDS31271.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987818	0.74589	.	.	ENSG00000107829	ENST00000331272;ENST00000389046;ENST00000457105;ENST00000431477	.	.	.	5.75	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5024	15.5262	0.75910	0.0:0.0:0.7491:0.2509	.	.	.	.	X	246;246;159;202	.	ENSP00000359149:R246X	R	-	1	2	FBXW4	103417667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.007000	0.49536	0.854000	0.35336	0.650000	0.86243	CGA	FBXW4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.488	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	G	NM_022039		103427677	-1	no_errors	ENST00000331272	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FBXW8	26259	genome.wustl.edu	37	12	117402550	117402550	+	Silent	SNP	C	C	T	rs376292994	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:117402550C>T	ENST00000309909.5	+	5	808	c.726C>T	c.(724-726)taC>taT	p.Y242Y	FBXW8_ENST00000455858.2_Silent_p.Y176Y			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	242					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCTGGGACTACGTAGCCCCCT	0.522													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18729	0.0		0.0	False		,,,				2504	0.0																0								T	,	3,4403	2.1+/-5.4	0,3,2200	204.0	186.0	192.0		528,726	-0.9	0.5	12		192	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FBXW8	NM_012174.1,NM_153348.2	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	176/533,242/599	117402550	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.726C>T	12.37:g.117402550C>T			Q9UK95	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,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	p.Y242	ENST00000309909.5	37	c.726	CCDS9182.1	12																																																																																			FBXW8	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.522	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	C	NM_012174		117402550	+1	no_errors	ENST00000309909	ensembl	human	known	70_37	silent	SNP	0.227	T
FCGBP	8857	genome.wustl.edu	37	19	40376976	40376976	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:40376976C>T	ENST00000221347.6	-	24	11453	c.11446G>A	c.(11446-11448)Gag>Aag	p.E3816K	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3816	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCCGAACTCATTGGCGTTG	0.642																																																	0													3.0	4.0	3.0					19																	40376976		1540	3147	4687	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11446G>A	19.37:g.40376976C>T	ENSP00000221347:p.Glu3816Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E3816K	ENST00000221347.6	37	c.11446	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	c	0.063	-1.220215	0.01542	.	.	ENSG00000090920	ENST00000221347	T	0.19806	2.12	3.75	2.6	0.31112	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.18383	0.0441	M	0.70275	2.135	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.35822	-0.9773	9	0.10902	T	0.67	.	3.6241	0.08107	0.0:0.5552:0.2235:0.2212	.	3816	Q9Y6R7	FCGBP_HUMAN	K	3816	ENSP00000221347:E3816K	ENSP00000221347:E3816K	E	-	1	0	FCGBP	45068816	0.000000	0.05858	0.014000	0.15608	0.045000	0.14185	0.866000	0.27954	1.792000	0.52537	0.313000	0.20887	GAG	FCGBP	-	NULL		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40376976	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.000	T
FCGBP	8857	genome.wustl.edu	37	19	40392661	40392661	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:40392661C>T	ENST00000221347.6	-	16	7850	c.7843G>A	c.(7843-7845)Gag>Aag	p.E2615K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2615	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCCGAACTCATTGGCGTTG	0.642																																																	0													6.0	7.0	7.0					19																	40392661		2063	4127	6190	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7843G>A	19.37:g.40392661C>T	ENSP00000221347:p.Glu2615Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E2615K	ENST00000221347.6	37	c.7843	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	0.662	-0.805216	0.02819	.	.	ENSG00000090920	ENST00000221347	T	0.20738	2.05	2.66	2.66	0.31614	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.21468	0.0517	L	0.60067	1.865	0.09310	N	1	P	0.46656	0.882	P	0.49047	0.599	T	0.09465	-1.0673	9	0.06365	T	0.9	.	4.6521	0.12599	0.0:0.7144:0.0:0.2856	.	2615	Q9Y6R7	FCGBP_HUMAN	K	2615	ENSP00000221347:E2615K	ENSP00000221347:E2615K	E	-	1	0	FCGBP	45084501	0.000000	0.05858	0.007000	0.13788	0.071000	0.16799	0.361000	0.20267	1.495000	0.48549	0.298000	0.19748	GAG	FCGBP	-	NULL		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40392661	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.000	T
FEM1B	10116	genome.wustl.edu	37	15	68582995	68582995	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:68582995C>T	ENST00000306917.4	+	2	1914	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	433					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATGCTGATGTCCACAATGCTA	0.368																																																	0													96.0	94.0	94.0					15																	68582995		2200	4298	6498	SO:0001819	synonymous_variant	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1299C>T	15.37:g.68582995C>T			O43146	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V433	ENST00000306917.4	37	c.1299	CCDS10228.1	15																																																																																			FEM1B	-	NULL		0.368	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68582995	+1	no_errors	ENST00000306917	ensembl	human	known	70_37	silent	SNP	0.875	T
FFAR3	2865	genome.wustl.edu	37	19	35850071	35850071	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:35850071C>T	ENST00000327809.4	+	2	480	c.279C>T	c.(277-279)ttC>ttT	p.F93F	FFAR3_ENST00000594310.1_Silent_p.F93F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	93					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCTCTGGATTCATCTTCTTCA	0.597																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													43.0	42.0	42.0					19																	35850071		2199	4269	6468	SO:0001819	synonymous_variant	2865			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.279C>T	19.37:g.35850071C>T			B2RWM8|Q14CM7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.F93	ENST00000327809.4	37	c.279	CCDS12459.1	19																																																																																			FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	C	NM_005304		35850071	+1	no_errors	ENST00000327809	ensembl	human	known	70_37	silent	SNP	0.978	T
FLG2	388698	genome.wustl.edu	37	1	152324999	152324999	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:152324999G>C	ENST00000388718.5	-	3	5335	c.5263C>G	c.(5263-5265)Caa>Gaa	p.Q1755E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1755					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCATGTTGAGATCTGGCT	0.498																																																	0													394.0	344.0	361.0					1																	152324999		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5263C>G	1.37:g.152324999G>C	ENSP00000373370:p.Gln1755Glu		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q1755E	ENST00000388718.5	37	c.5263	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	0.852	-0.738315	0.03111	.	.	ENSG00000143520	ENST00000388718	T	0.06933	3.24	3.67	1.68	0.24146	.	.	.	.	.	T	0.02012	0.0063	L	0.55481	1.735	0.19300	N	0.999977	B	0.24618	0.107	B	0.19666	0.026	T	0.47433	-0.9118	9	0.05833	T	0.94	-0.5338	9.9868	0.41846	0.0:0.3995:0.6005:0.0	.	1755	Q5D862	FILA2_HUMAN	E	1755	ENSP00000373370:Q1755E	ENSP00000373370:Q1755E	Q	-	1	0	FLG2	150591623	0.000000	0.05858	0.230000	0.23976	0.039000	0.13416	0.328000	0.19681	0.311000	0.23014	0.196000	0.17591	CAA	FLG2	-	prints_Filaggrin		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152324999	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.752	C
FLG2	388698	genome.wustl.edu	37	1	152325017	152325017	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:152325017G>A	ENST00000388718.5	-	3	5317	c.5245C>T	c.(5245-5247)Cat>Tat	p.H1749Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1749					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGGCCATGAGTGTGTCCT	0.502																																																	0													411.0	361.0	378.0					1																	152325017		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5245C>T	1.37:g.152325017G>A	ENSP00000373370:p.His1749Tyr		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.H1749Y	ENST00000388718.5	37	c.5245	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	1.433	-0.569748	0.03910	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.97	3.05	0.35203	.	.	.	.	.	T	0.03095	0.0091	L	0.58101	1.795	0.09310	N	1	B	0.30193	0.272	B	0.17722	0.019	T	0.34030	-0.9845	9	0.59425	D	0.04	-0.6345	7.6814	0.28515	0.1187:0.0:0.8813:0.0	.	1749	Q5D862	FILA2_HUMAN	Y	1749	ENSP00000373370:H1749Y	ENSP00000373370:H1749Y	H	-	1	0	FLG2	150591641	0.001000	0.12720	0.009000	0.14445	0.398000	0.30690	0.364000	0.20325	1.034000	0.39945	0.400000	0.26472	CAT	FLG2	-	prints_Filaggrin		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		152325017	-1	no_errors	ENST00000388718	ensembl	human	known	70_37	missense	SNP	0.024	A
FMN1	342184	genome.wustl.edu	37	15	33261392	33261392	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:33261392G>T	ENST00000559047.1	-	5	2509	c.2510C>A	c.(2509-2511)tCt>tAt	p.S837Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S614Y|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.S739Y			Q68DA7	FMN1_HUMAN	formin 1	837	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGCTTAAAGAGGAGATATT	0.488																																																	0													212.0	199.0	203.0					15																	33261392		2007	4180	6187	SO:0001583	missense	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2510C>A	15.37:g.33261392G>T	ENSP00000454047:p.Ser837Tyr		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.S614Y	ENST00000559047.1	37	c.1841		15	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481854	0.26598	.	.	ENSG00000248905	ENST00000334528	T	0.44482	0.92	4.03	4.03	0.46877	.	0.124068	0.56097	D	0.000032	T	0.47432	0.1445	M	0.62723	1.935	.	.	.	P	0.49358	0.923	P	0.49276	0.605	T	0.64668	-0.6353	9	0.59425	D	0.04	.	11.0494	0.47878	0.0908:0.0:0.9092:0.0	.	614	Q68DA7-5	.	Y	614	ENSP00000333950:S614Y	ENSP00000333950:S614Y	S	-	2	0	FMN1	31048684	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	4.925000	0.63425	2.079000	0.62486	0.555000	0.69702	TCT	FMN1	-	NULL		0.488	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	G	NM_001103184		33261392	-1	no_errors	ENST00000334528	ensembl	human	known	70_37	missense	SNP	0.989	T
FOXA3	3171	genome.wustl.edu	37	19	46375532	46375532	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:46375532C>T	ENST00000302177.2	+	2	466	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	90					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AGCAGCAGCTCCGGGTACGGG	0.706																																																	0													17.0	21.0	20.0					19																	46375532		2200	4296	6496	SO:0001583	missense	3171			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.269C>T	19.37:g.46375532C>T	ENSP00000304004:p.Ser90Phe		A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S90F	ENST00000302177.2	37	c.269	CCDS12677.1	19	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279721	0.10458	.	.	ENSG00000170608	ENST00000302177	T	0.18960	2.18	4.09	4.09	0.47781	Fork-head N-terminal (1);	0.827374	0.10667	N	0.647962	T	0.14527	0.0351	N	0.14661	0.345	0.39610	D	0.969862	B	0.29862	0.259	B	0.34536	0.185	T	0.07868	-1.0750	10	0.11182	T	0.66	.	13.8403	0.63435	0.0:1.0:0.0:0.0	.	90	P55318	FOXA3_HUMAN	F	90	ENSP00000304004:S90F	ENSP00000304004:S90F	S	+	2	0	FOXA3	51067372	0.014000	0.17966	0.290000	0.24890	0.184000	0.23303	1.666000	0.37460	2.124000	0.65301	0.297000	0.19635	TCC	FOXA3	-	pfam_Fork-head_N		0.706	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	C			46375532	+1	no_errors	ENST00000302177	ensembl	human	known	70_37	missense	SNP	0.716	T
GALNT6	11226	genome.wustl.edu	37	12	51752955	51752955	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:51752955G>T	ENST00000543196.2	-	7	1534	c.1329C>A	c.(1327-1329)ttC>ttA	p.F443L	GALNT6_ENST00000356317.3_Missense_Mutation_p.F443L			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	443					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCCTATAGAAAATCTTCT	0.532																																																	0													168.0	187.0	181.0					12																	51752955		2203	4300	6503	SO:0001583	missense	11226			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1329C>A	12.37:g.51752955G>T	ENSP00000444171:p.Phe443Leu		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F443L	ENST00000543196.2	37	c.1329	CCDS8813.1	12	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731769	0.69189	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.70045	-0.45;-0.45	4.26	3.37	0.38596	.	0.107071	0.64402	D	0.000004	T	0.66247	0.2770	L	0.61036	1.89	0.48830	D	0.999716	P	0.41498	0.752	B	0.43950	0.437	T	0.68224	-0.5465	10	0.45353	T	0.12	.	12.1644	0.54120	0.0871:0.0:0.9129:0.0	.	443	Q8NCL4	GALT6_HUMAN	L	443;443;424	ENSP00000444171:F443L;ENSP00000348668:F443L	ENSP00000348668:F443L	F	-	3	2	GALNT6	50039222	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.363000	0.34159	1.388000	0.46506	0.561000	0.74099	TTC	GALNT6	-	NULL		0.532	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	G	NM_007210		51752955	-1	no_errors	ENST00000356317	ensembl	human	known	70_37	missense	SNP	1.000	T
GAP43	2596	genome.wustl.edu	37	3	115394886	115394886	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:115394886G>C	ENST00000305124.6	+	2	423	c.57G>C	c.(55-57)aaG>aaC	p.K19N	GAP43_ENST00000393780.3_Missense_Mutation_p.K55N	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	19					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACGACCAAAAGATTGAACAAG	0.393																																																	0													79.0	83.0	81.0					3																	115394886		2203	4300	6503	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.57G>C	3.37:g.115394886G>C	ENSP00000305010:p.Lys19Asn		A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.K19N	ENST00000305124.6	37	c.57	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887276	0.72410	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.37915	1.21;1.17	4.75	4.75	0.60458	Neuromodulin gap junction N-terminal (1);	0.048656	0.85682	D	0.000000	T	0.45975	0.1369	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.43081	-0.9413	10	0.87932	D	0	-12.2986	11.7509	0.51847	0.0807:0.0:0.9193:0.0	.	55;19	A8K0Y4;P17677	.;NEUM_HUMAN	N	19;55	ENSP00000305010:K19N;ENSP00000377372:K55N	ENSP00000305010:K19N	K	+	3	2	GAP43	116877576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.565000	0.60836	2.618000	0.88619	0.563000	0.77884	AAG	GAP43	-	pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin		0.393	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	G	NM_002045		115394886	+1	no_errors	ENST00000305124	ensembl	human	known	70_37	missense	SNP	1.000	C
GCM1	8521	genome.wustl.edu	37	6	53010373	53010373	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:53010373C>T	ENST00000259803.7	-	2	269	c.58G>A	c.(58-60)Gat>Aat	p.D20N	U3_ENST00000516121.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	20					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGTTTCACATCATTAATATCC	0.423																																																	0													153.0	139.0	144.0					6																	53010373		2203	4300	6503	SO:0001583	missense	8521			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.58G>A	6.37:g.53010373C>T	ENSP00000259803:p.Asp20Asn		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.D20N	ENST00000259803.7	37	c.58	CCDS4950.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945625	0.73672	.	.	ENSG00000137270	ENST00000259803	T	0.76186	-1.0	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.85982	0.5824	M	0.84219	2.685	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.87105	0.2181	10	0.87932	D	0	0.6149	18.3357	0.90287	0.0:1.0:0.0:0.0	.	20	Q9NP62	GCM1_HUMAN	N	20	ENSP00000259803:D20N	ENSP00000259803:D20N	D	-	1	0	GCM1	53118332	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.482000	0.60257	2.760000	0.94817	0.655000	0.94253	GAT	GCM1	-	superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.423	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM1	HGNC	protein_coding	OTTHUMT00000040953.1	C			53010373	-1	no_errors	ENST00000259803	ensembl	human	known	70_37	missense	SNP	1.000	T
GDA	9615	genome.wustl.edu	37	9	74828903	74828903	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:74828903G>A	ENST00000358399.3	+	5	667	c.574G>A	c.(574-576)Gag>Aag	p.E192K	GDA_ENST00000376989.3_Missense_Mutation_p.E167K|GDA_ENST00000376986.1_Missense_Mutation_p.E150K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.E192K|GDA_ENST00000545168.1_Missense_Mutation_p.E118K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	192					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAAGGAAACTGAGAGGTAAAA	0.418																																																	0													109.0	103.0	105.0					9																	74828903		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.574G>A	9.37:g.74828903G>A	ENSP00000351170:p.Glu192Lys		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.E192K	ENST00000358399.3	37	c.574	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	4.547	0.101525	0.08731	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77	5.64	1.72	0.24424	Amidohydrolase 1 (1);	0.568015	0.21072	N	0.080657	T	0.78432	0.4282	N	0.25485	0.75	0.42570	D	0.993171	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.004;0.001;0.001	T	0.64206	-0.6462	10	0.02654	T	1	-6.2647	5.9909	0.19460	0.2106:0.2541:0.5352:0.0	.	150;192;192	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	118;192;167;150;192	ENSP00000437972:E118K;ENSP00000238018:E192K;ENSP00000366188:E167K;ENSP00000366185:E150K;ENSP00000351170:E192K	ENSP00000238018:E192K	E	+	1	0	GDA	74018723	0.201000	0.23410	0.452000	0.26994	0.266000	0.26442	0.313000	0.19415	0.054000	0.16065	-0.282000	0.10007	GAG	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase		0.418	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	G			74828903	+1	no_errors	ENST00000238018	ensembl	human	known	70_37	missense	SNP	0.600	A
GFRA2	2675	genome.wustl.edu	37	8	21608368	21608368	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:21608368T>C	ENST00000524240.1	-	4	1176	c.526A>G	c.(526-528)Aag>Gag	p.K176E	GFRA2_ENST00000518077.1_Missense_Mutation_p.K43E|GFRA2_ENST00000517328.1_Missense_Mutation_p.K176E|GFRA2_ENST00000400782.4_Missense_Mutation_p.K71E	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	176					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCGCAGCTTCTTGCAGTTG	0.617																																																	0													41.0	48.0	46.0					8																	21608368		2197	4297	6494	SO:0001583	missense	2675			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.526A>G	8.37:g.21608368T>C	ENSP00000428518:p.Lys176Glu		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.K176E	ENST00000524240.1	37	c.526	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826045	0.50739	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	4.76	4.76	0.60689	GDNF/GAS1 (2);	0.103202	0.64402	D	0.000014	T	0.52338	0.1728	L	0.42245	1.32	0.35560	D	0.804637	P;P;B	0.44006	0.824;0.678;0.093	B;B;B	0.39805	0.31;0.265;0.077	T	0.65631	-0.6121	10	0.51188	T	0.08	-29.3786	10.0294	0.42092	0.0:0.0:0.3183:0.6817	.	43;71;176	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	E	176;71;176;43;71;176;168	ENSP00000428518:K176E;ENSP00000383592:K71E;ENSP00000429445:K176E;ENSP00000429206:K43E;ENSP00000429979:K71E;ENSP00000428721:K176E	ENSP00000383592:K71E	K	-	1	0	GFRA2	21652648	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.758000	0.38410	1.784000	0.52394	0.260000	0.18958	AAG	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.617	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	T	NM_001495		21608368	-1	no_errors	ENST00000517328	ensembl	human	known	70_37	missense	SNP	1.000	C
GLIPR1	11010	genome.wustl.edu	37	12	75874744	75874744	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:75874744C>T	ENST00000266659.3	+	1	285	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	28					cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGCCAGATATCGAAAATGAAG	0.403																																																	0													93.0	88.0	89.0					12																	75874744		2203	4300	6503	SO:0001819	synonymous_variant	11010			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.84C>T	12.37:g.75874744C>T			A7YET6|F8VUC2|Q15409|Q969K2	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.I28	ENST00000266659.3	37	c.84	CCDS9011.1	12																																																																																			GLIPR1	-	superfamily_CAP_domain		0.403	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	C	NM_006851		75874744	+1	no_errors	ENST00000266659	ensembl	human	known	70_37	silent	SNP	0.000	T
GNA11	2767	genome.wustl.edu	37	19	3119049	3119049	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3119049G>A	ENST00000078429.4	+	5	975	c.733G>A	c.(733-735)Gag>Aag	p.E245K	AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	245					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTCGGACAACGAGGTGGGCCC	0.652			Mis		uveal melanoma																																			Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													102.0	91.0	94.0					19																	3119049		2203	4300	6503	SO:0001583	missense	2767			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.733G>A	19.37:g.3119049G>A	ENSP00000078429:p.Glu245Lys		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.E245K	ENST00000078429.4	37	c.733	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	11.17	1.560255	0.27827	.	.	ENSG00000088256	ENST00000078429	D	0.88354	-2.37	3.39	3.39	0.38822	.	0.079799	0.48286	U	0.000189	T	0.80869	0.4706	L	0.37850	1.14	0.47245	D	0.999363	P	0.43392	0.805	B	0.32864	0.154	T	0.81784	-0.0774	10	0.41790	T	0.15	.	13.7399	0.62840	0.0:0.0:1.0:0.0	.	245	P29992	GNA11_HUMAN	K	245	ENSP00000078429:E245K	ENSP00000078429:E245K	E	+	1	0	GNA11	3070049	1.000000	0.71417	0.936000	0.37596	0.028000	0.11728	5.450000	0.66626	1.620000	0.50308	0.457000	0.33378	GAG	GNA11	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.652	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	G	NM_002067		3119049	+1	no_errors	ENST00000078429	ensembl	human	known	70_37	missense	SNP	1.000	A
GNS	2799	genome.wustl.edu	37	12	65115475	65115475	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:65115475G>T	ENST00000258145.3	-	12	1489	c.1319C>A	c.(1318-1320)cCa>cAa	p.P440Q	GNS_ENST00000418919.2_Missense_Mutation_p.P384Q|GNS_ENST00000542058.1_Missense_Mutation_p.P420Q|GNS_ENST00000543646.1_Missense_Mutation_p.P472Q	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	440					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TACACAGTCTGGGAAGCATTG	0.418																																																	0													143.0	120.0	128.0					12																	65115475		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1319C>A	12.37:g.65115475G>T	ENSP00000258145:p.Pro440Gln		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.P440Q	ENST00000258145.3	37	c.1319	CCDS8970.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.067163	0.93898	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.71	5.71	0.89125	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;0.999	D;D;D;D	0.83275	0.963;0.996;0.958;0.99	T	0.79657	-0.1712	9	.	.	.	-15.0115	20.2469	0.98398	0.0:0.0:1.0:0.0	.	420;472;440;384	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	Q	384;440;472;420;357	ENSP00000413130:P384Q;ENSP00000258145:P440Q;ENSP00000438497:P472Q;ENSP00000444819:P420Q	.	P	-	2	0	GNS	63401742	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.725000	0.98778	2.873000	0.98535	0.561000	0.74099	CCA	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	G			65115475	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	missense	SNP	1.000	T
GPAA1	8733	genome.wustl.edu	37	8	145138198	145138198	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:145138198G>T	ENST00000355091.4	+	2	367	c.246G>T	c.(244-246)aaG>aaT	p.K82N	GPAA1_ENST00000361036.6_Intron|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	82					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACCGCAAGAAGTCGGGGT	0.672																																																	0													25.0	27.0	27.0					8																	145138198		1901	4103	6004	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.246G>T	8.37:g.145138198G>T	ENSP00000347206:p.Lys82Asn		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.K82N	ENST00000355091.4	37	c.246	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193794	0.58017	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000524418;ENST00000530258	.	.	.	5.17	2.4	0.29515	.	0.298433	0.37136	N	0.002221	T	0.47637	0.1456	L	0.58101	1.795	0.80722	D	1	B	0.21606	0.058	B	0.23419	0.046	T	0.24154	-1.0168	9	0.12766	T	0.61	-10.1526	8.6633	0.34106	0.2482:0.0:0.7518:0.0	.	82	O43292	GPAA1_HUMAN	N	82;82;82;33	.	ENSP00000347206:K82N	K	+	3	2	GPAA1	145210186	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.296000	0.59055	0.197000	0.20387	0.655000	0.94253	AAG	GPAA1	-	pirsf_GPI_prot_transamidse_cplx_GAA1		0.672	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	G	NM_003801		145138198	+1	no_errors	ENST00000355091	ensembl	human	known	70_37	missense	SNP	1.000	T
GPAA1	8733	genome.wustl.edu	37	8	145138904	145138904	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:145138904G>A	ENST00000355091.4	+	5	698	c.577G>A	c.(577-579)Gag>Aag	p.E193K	GPAA1_ENST00000361036.6_Missense_Mutation_p.E133K|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	193					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGCACTGAGGCTTGGCT	0.562																																																	0													107.0	115.0	112.0					8																	145138904		2129	4234	6363	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.577G>A	8.37:g.145138904G>A	ENSP00000347206:p.Glu193Lys		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.E193K	ENST00000355091.4	37	c.577	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852647	0.71719	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036;ENST00000524418	.	.	.	5.47	5.47	0.80525	.	0.053952	0.64402	D	0.000001	T	0.54255	0.1847	L	0.29908	0.895	0.50467	D	0.999877	P;P	0.49559	0.925;0.822	P;B	0.49922	0.626;0.337	T	0.45323	-0.9269	9	0.17369	T	0.5	-26.3852	16.8077	0.85710	0.0:0.0:1.0:0.0	.	193;133	O43292;O43292-2	GPAA1_HUMAN;.	K	193;121;133;179	.	ENSP00000347206:E193K	E	+	1	0	GPAA1	145210892	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.416000	0.73332	2.570000	0.86706	0.561000	0.74099	GAG	GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.562	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	G	NM_003801		145138904	+1	no_errors	ENST00000355091	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR39	2863	genome.wustl.edu	37	2	133174897	133174897	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:133174897C>T	ENST00000329321.3	+	1	751	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	94					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)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTACAGCATCATCTGGAATC	0.552																																																	0													228.0	206.0	214.0					2																	133174897		2203	4300	6503	SO:0001819	synonymous_variant	2863			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.282C>T	2.37:g.133174897C>T			B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I94	ENST00000329321.3	37	c.282	CCDS2170.1	2																																																																																			GPR39	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	C			133174897	+1	no_errors	ENST00000329321	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	89924399	89924399	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:89924399T>G	ENST00000405460.2	+	8	1355	c.1259T>G	c.(1258-1260)gTt>gGt	p.V420G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	420	Calx-beta 4. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCACAGTGGTTAGAAATGGA	0.398																																																	0													78.0	75.0	76.0					5																	89924399		1877	4118	5995	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1259T>G	5.37:g.89924399T>G	ENSP00000384582:p.Val420Gly		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V420G	ENST00000405460.2	37	c.1259	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737563	0.89482	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37235	1.21	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70026	-0.4985	10	0.87932	D	0	.	16.3035	0.82836	0.0:0.0:0.0:1.0	.	420	Q8WXG9	GPR98_HUMAN	G	420	ENSP00000384582:V420G	ENSP00000296619:V420G	V	+	2	0	GPR98	89960155	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.981000	0.70524	2.299000	0.77371	0.528000	0.53228	GTT	GPR98	-	NULL		0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		89924399	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G
HECTD1	25831	genome.wustl.edu	37	14	31597175	31597175	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:31597175C>A	ENST00000399332.1	-	26	5285	c.4797G>T	c.(4795-4797)ttG>ttT	p.L1599F	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1599F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1599	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGGTGTGGTCAAATTAGGGA	0.398																																																	0													102.0	93.0	96.0					14																	31597175		1922	4131	6053	SO:0001583	missense	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4797G>T	14.37:g.31597175C>A	ENSP00000382269:p.Leu1599Phe		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.L1599F	ENST00000399332.1	37	c.4797	CCDS41939.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.61|12.61	1.990253|1.990253	0.35131|0.35131	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000557369|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.44482	.|0.92;0.92;3.13	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.64402	.|U	.|0.000014	T|T	0.51958|0.51958	0.1705|0.1705	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.995	.|D;D	.|0.72982	.|0.979;0.979	T|T	0.31166|0.31166	-0.9953|-0.9953	5|10	.|0.19147	.|T	.|0.46	-5.2059|-5.2059	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1599;1599	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	Y|F	151|1599;1601;1599;1026	.|ENSP00000450697:L1599F;ENSP00000382269:L1599F;ENSP00000451860:L1026F	.|ENSP00000261312:L1601F	D|L	-|-	1|3	0|2	HECTD1|HECTD1	30666926|30666926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.733000|3.733000	0.55029|0.55029	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAC|TTG	HECTD1	-	NULL		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31597175	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	missense	SNP	1.000	A
HECTD3	79654	genome.wustl.edu	37	1	45471529	45471529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:45471529C>T	ENST00000372172.4	-	15	1943	c.1872G>A	c.(1870-1872)tgG>tgA	p.W624*	HECTD3_ENST00000486132.1_5'Flank|HECTD3_ENST00000372168.3_Nonsense_Mutation_p.W234*	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	624	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AAAGCTGCTTCCACACAAAAC	0.582																																																	0													87.0	89.0	88.0					1																	45471529		2105	4215	6320	SO:0001587	stop_gained	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1872G>A	1.37:g.45471529C>T	ENSP00000361245:p.Trp624*		B3KPV7|B3KRH4|Q5T448|Q9H783	Nonsense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.W624*	ENST00000372172.4	37	c.1872	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	38	7.066344	0.98040	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	.	.	.	5.07	5.07	0.68467	.	0.112211	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6251	0.91334	0.0:1.0:0.0:0.0	.	.	.	.	X	624;234	.	ENSP00000361241:W234X	W	-	3	0	HECTD3	45244116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.222000	0.78025	2.623000	0.88846	0.561000	0.74099	TGG	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.582	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45471529	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62198794	62198794	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:62198794C>T	ENST00000467148.1	-	6	1986	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Silent_p.A70A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	639	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A639A(1)									CGCGGTGCCGCGCCAGCTCTG	0.692																																																	1	Substitution - coding silent(1)	endometrium(1)											14.0	14.0	14.0					20																	62198794		2125	4209	6334	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1917G>A	20.37:g.62198794C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.A639	ENST00000467148.1	37	c.1917	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62198794	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.000	T
HIF1A	3091	genome.wustl.edu	37	14	62193410	62193410	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:62193410C>T	ENST00000337138.4	+	5	722				HIF1A_ENST00000539097.1_Intron|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000394997.1_Intron|HIF1A_ENST00000557538.1_Intron|HIF1A_ENST00000323441.6_Intron|HIF1A_ENST00000557206.1_Intron	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AACTTTATTTCATGCTTTCAT	0.348																																																	0													51.0	49.0	50.0					14																	62193410		2203	4300	6503	SO:0001627	intron_variant	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.458-14C>T	14.37:g.62193410C>T			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	RNA	SNP	-	NULL	ENST00000337138.4	37	NULL	CCDS9753.1	14																																																																																			HIF1A	-	-		0.348	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	C	NM_001530		62193410	+1	no_errors	ENST00000556237	ensembl	human	putative	70_37	rna	SNP	0.075	T
HIST1H2BD	3017	genome.wustl.edu	37	6	26158492	26158492	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:26158492G>T	ENST00000289316.2	+	1	119	c.95G>T	c.(94-96)cGc>cTc	p.R32L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.R32L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	32					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AAGCGCAAGCGCAGCCGCAAG	0.552																																																	0													167.0	157.0	160.0					6																	26158492		2203	4300	6503	SO:0001583	missense	3017			M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.95G>T	6.37:g.26158492G>T	ENSP00000289316:p.Arg32Leu			Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.R32L	ENST00000289316.2	37	c.95	CCDS4587.1	6	.	.	.	.	.	.	.	.	.	.	.	16.81	3.225960	0.58668	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.70986	-0.53;-0.53	5.1	5.1	0.69264	Histone-fold (2);Histone core (1);	0.000000	0.41823	D	0.000812	T	0.61949	0.2388	M	0.76838	2.35	0.36096	D	0.843821	B	0.18166	0.026	B	0.31686	0.134	T	0.68176	-0.5478	10	0.72032	D	0.01	.	8.5677	0.33550	0.1652:0.0:0.8348:0.0	.	32	P58876	H2B1D_HUMAN	L	32	ENSP00000367008:R32L;ENSP00000289316:R32L	ENSP00000289316:R32L	R	+	2	0	HIST1H2BD	26266471	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.866000	0.48420	2.769000	0.95229	0.650000	0.86243	CGC	HIST1H2BD	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B		0.552	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BD	HGNC	protein_coding	OTTHUMT00000040088.1	G	NM_021063		26158492	+1	no_errors	ENST00000289316	ensembl	human	known	70_37	missense	SNP	1.000	T
HLA-C	3107	genome.wustl.edu	37	6	31239773	31239773	+	Intron	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:31239773C>G	ENST00000376228.5	-	1	88				HLA-C_ENST00000383329.3_Intron	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACCCCGCACTCACAGGCCCAG	0.736																																																	0													15.0	17.0	16.0					6																	31239773		1507	2708	4215	SO:0001627	intron_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.73+2G>C	6.37:g.31239773C>G			O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E26Q	ENST00000376228.5	37	c.76	CCDS34393.1	6	.	.	.	.	.	.	.	.	.	.	-	11.22	1.573677	0.28092	.	.	ENSG00000204525	ENST00000539307	.	.	.	3.24	2.35	0.29111	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.17684	-1.0361	5	0.87932	D	0	.	5.6524	0.17625	0.0:0.8465:0.0:0.1534	.	.	.	.	Q	26	.	ENSP00000440406:E26Q	E	-	1	0	HLA-C	31347752	0.008000	0.16893	0.992000	0.48379	0.044000	0.14063	0.740000	0.26188	1.826000	0.53198	0.305000	0.20034	GAG	HLA-C	-	NULL		0.736	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31239773	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	missense	SNP	0.989	G
HMCN2	256158	genome.wustl.edu	37	9	133269206	133269206	+	3'UTR	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:133269206G>A	ENST00000487727.2	+	0	1399							Q8NDA2	HMCN2_HUMAN	hemicentin 2						response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										ACTCCCGTGCGAGGCCCGGGG	0.662																																																	0																																										SO:0001624	3_prime_UTR_variant	256158			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000487727.2:c.*1396G>A	9.37:g.133269206G>A			Q8N225|Q8TCI8	RNA	SNP	-	NULL	ENST00000487727.2	37	NULL		9																																																																																			HMCN2	-	-		0.662	HMCN2-006	KNOWN	mRNA_start_NF|basic	processed_transcript	HMCN2	HGNC	protein_coding	OTTHUMT00000054659.3	G	XM_175125		133269206	+1	no_errors	ENST00000487727	ensembl	human	known	70_37	rna	SNP	1.000	A
HMG20B	10362	genome.wustl.edu	37	19	3574375	3574375	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3574375C>T	ENST00000333651.6	+	4	222				MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B						blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCGGTTCTGCAGCCGGT	0.692																																																	0													8.0	10.0	9.0					19																	3574375		1862	4057	5919	SO:0001627	intron_variant	10362			BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.148-6C>T	19.37:g.3574375C>T			A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	NULL	p.S52F	ENST00000333651.6	37	c.155	CCDS45919.1	19	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225821	0.39300	.	.	ENSG00000064961	ENST00000262949	.	.	.	4.03	0.534	0.17127	.	.	.	.	.	T	0.59128	0.2171	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58352	-0.7651	5	0.72032	D	0.01	.	5.5096	0.16874	0.1623:0.6412:0.0:0.1965	.	.	.	.	F	52	.	ENSP00000262949:S52F	S	+	2	0	HMG20B	3525375	0.000000	0.05858	0.702000	0.30337	0.836000	0.47400	-0.425000	0.07017	0.285000	0.22329	0.491000	0.48974	TCT	HMG20B	-	NULL		0.692	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20B	HGNC	protein_coding	OTTHUMT00000318088.1	C	NM_006339		3574375	+1	no_errors	ENST00000435022	ensembl	human	known	70_37	missense	SNP	0.562	T
HNRNPA0	10949	genome.wustl.edu	37	5	137089493	137089493	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:137089493G>A	ENST00000314940.4	-	1	546	c.263C>T	c.(262-264)tCg>tTg	p.S88L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	88					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCGCGCCGAATCCTCCCG	0.647																																																	0													53.0	57.0	56.0					5																	137089493		2203	4300	6503	SO:0001583	missense	10949			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.263C>T	5.37:g.137089493G>A	ENSP00000316042:p.Ser88Leu		Q6IB18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S88L	ENST00000314940.4	37	c.263	CCDS4193.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.477516	0.96291	.	.	ENSG00000177733	ENST00000314940	D	0.91740	-2.9	4.88	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);	0.072203	0.56097	U	0.000030	D	0.93128	0.7812	M	0.76002	2.32	0.58432	D	0.999999	D	0.69078	0.997	P	0.47134	0.539	D	0.94211	0.7459	10	0.72032	D	0.01	.	18.0189	0.89249	0.0:0.0:1.0:0.0	.	88	Q13151	ROA0_HUMAN	L	88	ENSP00000316042:S88L	ENSP00000316042:S88L	S	-	2	0	HNRNPA0	137117392	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.786000	0.99046	2.255000	0.74692	0.305000	0.20034	TCG	HNRNPA0	-	NULL		0.647	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA0	HGNC	protein_coding	OTTHUMT00000251221.1	G	NM_006805		137089493	-1	no_errors	ENST00000314940	ensembl	human	known	70_37	missense	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18319183	18319183	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:18319183G>C	ENST00000349215.3	-	11	1523	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E	HPS5_ENST00000396253.3_Missense_Mutation_p.Q302E|HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Missense_Mutation_p.Q302E|HPS5_ENST00000531848.1_Missense_Mutation_p.Q302E	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	416					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTTCCAGTTGAGAAATTAGA	0.368									Hermansky-Pudlak syndrome																																								0													98.0	96.0	97.0					11																	18319183		2199	4293	6492	SO:0001583	missense	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1246C>G	11.37:g.18319183G>C	ENSP00000265967:p.Gln416Glu		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.Q416E	ENST00000349215.3	37	c.1246	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969948	0.34754	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.56941	0.43;0.43;0.44;1.49	5.23	5.23	0.72850	.	0.053443	0.85682	D	0.000000	T	0.65312	0.2679	M	0.66939	2.045	0.58432	D	0.999999	D	0.56746	0.977	P	0.54140	0.743	T	0.65138	-0.6241	10	0.39692	T	0.17	.	18.7899	0.91969	0.0:0.0:1.0:0.0	.	416	Q9UPZ3	HPS5_HUMAN	E	302;302;416;302	ENSP00000379552:Q302E;ENSP00000399590:Q302E;ENSP00000265967:Q416E;ENSP00000431758:Q302E	ENSP00000265967:Q416E	Q	-	1	0	HPS5	18275759	1.000000	0.71417	0.999000	0.59377	0.073000	0.16967	7.455000	0.80726	2.455000	0.83008	0.462000	0.41574	CAA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit		0.368	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	G	NM_181507		18319183	-1	no_errors	ENST00000349215	ensembl	human	known	70_37	missense	SNP	1.000	C
HRH1	3269	genome.wustl.edu	37	3	11302022	11302022	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:11302022C>G	ENST00000397056.1	+	3	1490	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	HRH1_ENST00000438284.2_Missense_Mutation_p.I433M|HRH1_ENST00000431010.2_Missense_Mutation_p.I433M	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	433					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTATTTCATCTTCTTCATGG	0.478																																																	0													242.0	248.0	246.0					3																	11302022		2203	4300	6503	SO:0001583	missense	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1299C>G	3.37:g.11302022C>G	ENSP00000380247:p.Ile433Met		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_recept,prints_GPCR_Rhodpsn,prints_Musac_rcpt	p.I433M	ENST00000397056.1	37	c.1299	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162468	0.57368	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.76316	-1.01;-1.01;-1.01	6.08	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.115474	0.64402	D	0.000020	D	0.86863	0.6035	M	0.86028	2.79	0.35960	D	0.834554	D	0.62365	0.991	D	0.66847	0.947	D	0.90569	0.4521	10	0.72032	D	0.01	-21.6543	9.6433	0.39853	0.0:0.5047:0.4177:0.0776	.	433	P35367	HRH1_HUMAN	M	433	ENSP00000406705:I433M;ENSP00000397028:I433M;ENSP00000380247:I433M	ENSP00000380247:I433M	I	+	3	3	HRH1	11277022	0.768000	0.28519	1.000000	0.80357	0.997000	0.91878	-0.010000	0.12743	1.546000	0.49388	0.655000	0.94253	ATC	HRH1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	C			11302022	+1	no_errors	ENST00000397056	ensembl	human	known	70_37	missense	SNP	1.000	G
HSPA1A	3303	genome.wustl.edu	37	6	31783743	31783743	+	Silent	SNP	G	G	A	rs534159834	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:31783743G>A	ENST00000375651.5	+	1	453	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HSPA1A_ENST00000458062.2_Intron|HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Intron|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	70					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						TGTTTGACGCGAAGCGGCTGA	0.637													g|||	4	0.000798722	0.003	0.0	5008	,	,		18487	0.0		0.0	False		,,,				2504	0.0																0													2.0	3.0	3.0					6																	31783743		1544	3258	4802	SO:0001819	synonymous_variant	3303			BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.210G>A	6.37:g.31783743G>A			B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A70	ENST00000375651.5	37	c.210	CCDS34414.1	6																																																																																			HSPA1A	-	pfam_Hsp_70_fam		0.637	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1A	HGNC	protein_coding	OTTHUMT00000076401.2	G			31783743	+1	no_errors	ENST00000375651	ensembl	human	known	70_37	silent	SNP	0.987	A
HSPG2	3339	genome.wustl.edu	37	1	22177951	22177951	+	Intron	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:22177951C>G	ENST00000374695.3	-	55	7238				HSPG2_ENST00000430507.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTCCTGATCTCAGGGGAGCCT	0.572																																																	0																																										SO:0001627	intron_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7158+87G>C	1.37:g.22177951C>G			Q16287|Q5SZI3|Q9H3V5	RNA	SNP	-	NULL	ENST00000374695.3	37	NULL	CCDS30625.1	1																																																																																			HSPG2	-	-		0.572	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22177951	-1	no_errors	ENST00000493940	ensembl	human	known	70_37	rna	SNP	0.009	G
HTR1B	3351	genome.wustl.edu	37	6	78173057	78173057	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:78173057G>C	ENST00000369947.2	-	1	433	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	22					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAGTTGGCTTGAGGAACCCAG	0.617																																																	0													102.0	99.0	100.0					6																	78173057		2203	4300	6503	SO:0001583	missense	3351			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.64C>G	6.37:g.78173057G>C	ENSP00000358963:p.Gln22Glu		Q4VAY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt	p.Q22E	ENST00000369947.2	37	c.64	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	G	1.653	-0.513489	0.04200	.	.	ENSG00000135312	ENST00000369947	T	0.61274	0.12	4.78	2.95	0.34219	.	0.727036	0.12749	N	0.442335	T	0.21022	0.0506	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22556	-1.0213	9	.	.	.	.	13.6839	0.62504	0.0:0.2958:0.7042:0.0	.	22	P28222	5HT1B_HUMAN	E	22	ENSP00000358963:Q22E	.	Q	-	1	0	HTR1B	78229776	0.037000	0.19845	0.004000	0.12327	0.057000	0.15508	2.175000	0.42491	0.592000	0.29728	-0.264000	0.10439	CAA	HTR1B	-	NULL		0.617	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	G	NM_000863		78173057	-1	no_errors	ENST00000369947	ensembl	human	known	70_37	missense	SNP	0.003	C
HTR3D	200909	genome.wustl.edu	37	3	183755875	183755875	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:183755875C>G	ENST00000382489.3	+	6	727	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V	HTR3D_ENST00000334128.2_Missense_Mutation_p.L70V|HTR3D_ENST00000428798.2_Missense_Mutation_p.L195V|HTR3D_ENST00000453435.1_Missense_Mutation_p.L24V	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	243					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CAGTGGCATTCTGATTGCCAT	0.572																																																	0													89.0	73.0	79.0					3																	183755875		2203	4300	6503	SO:0001583	missense	200909			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.727C>G	3.37:g.183755875C>G	ENSP00000371929:p.Leu243Val		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.L243V	ENST00000382489.3	37	c.727	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391709	0.25118	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	3.28	2.4	0.29515	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000015	D	0.92378	0.7581	M	0.93678	3.445	0.23555	N	0.997424	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.83654	0.0157	10	0.87932	D	0	-12.0689	5.4638	0.16632	0.0:0.7399:0.0:0.2601	.	243;70;24;70	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	V	70;195;243;24	ENSP00000334315:L70V;ENSP00000405409:L195V;ENSP00000371929:L243V;ENSP00000389268:L24V	ENSP00000334315:L70V	L	+	1	2	HTR3D	185238569	1.000000	0.71417	0.213000	0.23690	0.021000	0.10359	3.980000	0.56895	0.726000	0.32339	0.555000	0.69702	CTG	HTR3D	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.572	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	C	NM_182537		183755875	+1	no_errors	ENST00000382489	ensembl	human	known	70_37	missense	SNP	1.000	G
IFNGR1	3459	genome.wustl.edu	37	6	137519721	137519721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:137519721G>T	ENST00000367739.4	-	7	1038	c.917C>A	c.(916-918)tCa>tAa	p.S306*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.S278*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	306					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CGTGATGAGTGATACATATTT	0.388																																																	0													66.0	61.0	63.0					6																	137519721		2203	4300	6503	SO:0001587	stop_gained	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.917C>A	6.37:g.137519721G>T	ENSP00000356713:p.Ser306*		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S306*	ENST00000367739.4	37	c.917	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730923	0.89390	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	6.06	5.19	0.71726	.	2.485370	0.01475	N	0.016456	.	.	.	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0281	11.0557	0.47915	0.0844:0.0:0.9156:0.0	.	.	.	.	X	306;278	.	ENSP00000356713:S306X	S	-	2	0	IFNGR1	137561414	0.433000	0.25562	0.050000	0.19076	0.241000	0.25554	2.466000	0.45084	1.569000	0.49696	0.655000	0.94253	TCA	IFNGR1	-	pfam_Interferon_gamma_pox/mammal		0.388	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137519721	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	nonsense	SNP	0.199	T
IGFL3	388555	genome.wustl.edu	37	19	46627226	46627226	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:46627226G>A	ENST00000341415.2	-	3	291	c.267C>T	c.(265-267)ccC>ccT	p.P89P	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	89						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTTCTGCTGGGGGCCAAAAG	0.532																																																	0													93.0	116.0	108.0					19																	46627226		2188	4300	6488	SO:0001819	synonymous_variant	388555			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.267C>T	19.37:g.46627226G>A				Silent	SNP	NULL	p.P89	ENST00000341415.2	37	c.267	CCDS33058.1	19																																																																																			IGFL3	-	NULL		0.532	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL3	HGNC	protein_coding	OTTHUMT00000421323.1	G	NM_207393		46627226	-1	no_errors	ENST00000341415	ensembl	human	known	70_37	silent	SNP	0.009	A
INO80	54617	genome.wustl.edu	37	15	41347514	41347514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:41347514C>A	ENST00000361937.3	-	18	2543	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*	INO80_ENST00000401393.3_Nonsense_Mutation_p.E707*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	707	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTAAATTCCTCATGTGAATCA	0.368																																																	0													116.0	105.0	109.0					15																	41347514		2203	4300	6503	SO:0001587	stop_gained	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2119G>T	15.37:g.41347514C>A	ENSP00000355205:p.Glu707*		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E707*	ENST00000361937.3	37	c.2119	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.010478	0.98607	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	17.5275	0.87804	0.0:1.0:0.0:0.0	.	.	.	.	X	707	.	ENSP00000355205:E707X	E	-	1	0	INO80	39134806	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.805000	0.86005	2.141000	0.66446	0.455000	0.32223	GAG	INO80	-	pfam_SNF2_N,smart_Helicase_ATP-bd		0.368	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41347514	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ITGA4	3676	genome.wustl.edu	37	2	182374496	182374496	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:182374496C>G	ENST00000397033.2	+	16	2237	c.1807C>G	c.(1807-1809)Ctt>Gtt	p.L603V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	603					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAGCCAATTCTTCAGCAGAA	0.353																																																	0													90.0	81.0	84.0					2																	182374496		1838	4088	5926	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1807C>G	2.37:g.182374496C>G	ENSP00000380227:p.Leu603Val		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L603V	ENST00000397033.2	37	c.1807	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442763	0.83993	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.69926	-0.44;-0.44	6.02	6.02	0.97574	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82772	-0.0292	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	425;603	Q59H74;P13612	.;ITA4_HUMAN	V	603	ENSP00000380227:L603V;ENSP00000233573:L603V	ENSP00000233573:L603V	L	+	1	0	ITGA4	182082741	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.642000	0.67888	2.857000	0.98124	0.650000	0.86243	CTT	ITGA4	-	pfam_Integrin_alpha-2		0.353	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	C			182374496	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	missense	SNP	1.000	G
INPP5D	3635	genome.wustl.edu	37	2	234113029	234113029	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:234113029T>C	ENST00000359570.5	+	28	3197	c.3197T>C	c.(3196-3198)gTg>gCg	p.V1066A	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Missense_Mutation_p.V830A|INPP5D_ENST00000450745.1_Missense_Mutation_p.V830A			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	1078	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCAAGCAGGTGCCCGCGCCC	0.716																																					NSCLC(82;1215 1426 16163 20348 41018)												0													14.0	19.0	17.0					2																	234113029		1916	4111	6027	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.3197T>C	2.37:g.234113029T>C	ENSP00000352575:p.Val1066Ala		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.V1066A	ENST00000359570.5	37	c.3197		2	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.380405	0.01204	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96587	-3.98;-4.06;-4.06;-4.06;-4.06;-4.06	4.6	-9.2	0.00682	.	1.637160	0.03167	N	0.170139	D	0.86752	0.6008	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.81457	-0.0924	9	0.08381	T	0.77	.	3.516	0.07725	0.0942:0.2217:0.1861:0.498	.	1077;1078	Q92835-2;Q92835	.;SHIP1_HUMAN	A	1066;830;830;699;699;699	ENSP00000352575:V1066A;ENSP00000407916:V830A;ENSP00000404610:V830A;ENSP00000400151:V699A;ENSP00000397421:V699A;ENSP00000405338:V699A	ENSP00000352575:V1066A	V	+	2	0	INPP5D	233777768	0.023000	0.18921	0.000000	0.03702	0.018000	0.09664	-0.142000	0.10311	-3.067000	0.00255	-1.215000	0.01618	GTG	INPP5D	-	NULL		0.716	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		T	NM_001017915		234113029	+1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	0.000	C
L3HYPDH	112849	genome.wustl.edu	37	14	59951218	59951218	+	5'Flank	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:59951218G>A	ENST00000247194.4	-	0	0				JKAMP_ENST00000425728.2_5'Flank|JKAMP_ENST00000356057.5_5'Flank|JKAMP_ENST00000554271.1_5'Flank|L3HYPDH_ENST00000487285.1_5'Flank|JKAMP_ENST00000261247.9_5'UTR|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)						metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CCGGGAGGCGGAGCCGCCGAG	0.662																																																	0													30.0	33.0	32.0					14																	59951218		692	1591	2283	SO:0001631	upstream_gene_variant	51528			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941		14.37:g.59951218G>A	Exception_encountered		Q96LJ5	RNA	SNP	-	NULL	ENST00000247194.4	37	NULL	CCDS9739.1	14																																																																																			JKAMP	-	-		0.662	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000072254.5	G	NM_144581		59951218	+1	no_errors	ENST00000554754	ensembl	human	known	70_37	rna	SNP	0.994	A
JMJD4	65094	genome.wustl.edu	37	1	227920351	227920351	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:227920351G>C	ENST00000366758.3	-	6	1133	c.1134C>G	c.(1132-1134)atC>atG	p.I378M	JMJD4_ENST00000438896.2_Missense_Mutation_p.I362M|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366759.4_5'Flank|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	378										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTTCAAAGTTGATGCCCGAGC	0.582																																																	0													67.0	61.0	63.0					1																	227920351		2203	4300	6503	SO:0001583	missense	65094			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1134C>G	1.37:g.227920351G>C	ENSP00000355720:p.Ile378Met		Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I378M	ENST00000366758.3	37	c.1134	CCDS1561.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.984|9.984	1.228885|1.228885	0.22542|0.22542	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.19806|.	2.12|.	5.01|5.01	1.66|1.66	0.24008|0.24008	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59211|.	0.2177|.	M|M	0.68317|0.68317	2.08|2.08	0.44409|0.44409	D|D	0.997321|0.997321	B;B|.	0.31548|.	0.328;0.086|.	B;B|.	0.34038|.	0.174;0.057|.	T|.	0.54735|.	-0.8249|.	10|.	0.15066|.	T|.	0.55|.	-41.3494|-41.3494	5.1679|5.1679	0.15096|0.15096	0.209:0.0:0.6254:0.1656|0.209:0.0:0.6254:0.1656	.|.	362;378|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	M|X	378|355	ENSP00000355720:I378M|.	ENSP00000355720:I378M|.	I|S	-|-	3|2	3|0	JMJD4|JMJD4	225986974|225986974	0.998000|0.998000	0.40836|0.40836	0.971000|0.971000	0.41717|0.41717	0.988000|0.988000	0.76386|0.76386	0.225000|0.225000	0.17757|0.17757	0.593000|0.593000	0.29745|0.29745	0.655000|0.655000	0.94253|0.94253	ATC|TCA	JMJD4	-	NULL		0.582	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD4	HGNC	protein_coding	OTTHUMT00000091970.1	G	NM_023007		227920351	-1	no_errors	ENST00000366758	ensembl	human	known	70_37	missense	SNP	1.000	C
KAT2A	2648	genome.wustl.edu	37	17	40271595	40271595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:40271595G>A	ENST00000225916.5	-	5	894	c.841C>T	c.(841-843)Cag>Tag	p.Q281*		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	281					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTCAGCCTGAGACCTCTGC	0.592																																																	0													74.0	72.0	72.0					17																	40271595		2203	4300	6503	SO:0001587	stop_gained	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.841C>T	17.37:g.40271595G>A	ENSP00000225916:p.Gln281*		Q8N1A2|Q9UCW1	Nonsense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.Q281*	ENST00000225916.5	37	c.841	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.361460	0.97507	.	.	ENSG00000108773	ENST00000225916	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-13.5231	18.8086	0.92048	0.0:0.0:1.0:0.0	.	.	.	.	X	281	.	ENSP00000225916:Q281X	Q	-	1	0	KAT2A	37525121	1.000000	0.71417	0.567000	0.28434	0.996000	0.88848	9.869000	0.99810	2.438000	0.82558	0.555000	0.69702	CAG	KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N		0.592	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	G	NM_021078		40271595	-1	no_errors	ENST00000225916	ensembl	human	known	70_37	nonsense	SNP	1.000	A
JMJD6	23210	genome.wustl.edu	37	17	74719994	74719994	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:74719994C>T	ENST00000397625.4	-	3	779	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	METTL23_ENST00000588783.1_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|JMJD6_ENST00000585429.1_Missense_Mutation_p.R222Q|JMJD6_ENST00000445478.2_Missense_Mutation_p.R222Q|METTL23_ENST00000590964.1_5'Flank|METTL23_ENST00000588302.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	222	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCCTTCGTCTCGGGTCACTTT	0.537																																																	0													138.0	133.0	135.0					17																	74719994		1940	4139	6079	SO:0001583	missense	23210			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.665G>A	17.37:g.74719994C>T	ENSP00000380750:p.Arg222Gln		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R222Q	ENST00000397625.4	37	c.665	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041903	0.35989	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.72167	-0.63;-0.63	5.31	5.31	0.75309	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.190862	0.46758	D	0.000265	T	0.65668	0.2713	M	0.64997	1.995	0.80722	D	1	B;P;B	0.36199	0.405;0.543;0.027	B;B;B	0.29440	0.102;0.053;0.008	T	0.64824	-0.6316	10	0.15066	T	0.55	-2.4777	18.9871	0.92775	0.0:1.0:0.0:0.0	.	222;222;222	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	Q	222	ENSP00000394085:R222Q;ENSP00000380750:R222Q	ENSP00000302916:R222Q	R	-	2	0	JMJD6	72231589	1.000000	0.71417	0.979000	0.43373	0.185000	0.23345	7.807000	0.86032	2.473000	0.83533	0.643000	0.83706	CGA	JMJD6	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.537	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	C	NM_015167		74719994	-1	no_errors	ENST00000445478	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNH3	23416	genome.wustl.edu	37	12	49951641	49951641	+	Silent	SNP	T	T	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:49951641T>C	ENST00000257981.6	+	15	3417	c.3157T>C	c.(3157-3159)Ttg>Ctg	p.L1053L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1053	Pro-rich.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCTGGCCTTGCCCTGGGA	0.652																																																	0													31.0	33.0	32.0					12																	49951641		2203	4300	6503	SO:0001819	synonymous_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.3157T>C	12.37:g.49951641T>C			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.L1053	ENST00000257981.6	37	c.3157	CCDS8786.1	12																																																																																			KCNH3	-	NULL		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	T	NM_012284		49951641	+1	no_errors	ENST00000257981	ensembl	human	known	70_37	silent	SNP	1.000	C
KCNV1	27012	genome.wustl.edu	37	8	110986320	110986320	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:110986320C>T	ENST00000524391.1	-	2	1330	c.298G>A	c.(298-300)Gag>Aag	p.E100K	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.E100K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	100					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AAGAAGTACTCGTTGTCCACG	0.667																																																	0													42.0	36.0	38.0					8																	110986320		2203	4299	6502	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.298G>A	8.37:g.110986320C>T	ENSP00000435954:p.Glu100Lys		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.E100K	ENST00000524391.1	37	c.298	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.663543	0.96745	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.79454	-1.27;-1.27	4.85	4.85	0.62838	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.051733	0.85682	D	0.000000	D	0.90459	0.7012	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	D	0.93227	0.6614	10	0.87932	D	0	.	17.1304	0.86725	0.0:1.0:0.0:0.0	.	100	Q6PIU1	KCNV1_HUMAN	K	100	ENSP00000435954:E100K;ENSP00000297404:E100K	ENSP00000297404:E100K	E	-	1	0	KCNV1	111055496	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.851000	0.69481	2.496000	0.84212	0.655000	0.94253	GAG	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4		0.667	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	C	NM_014379		110986320	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1804	84451	genome.wustl.edu	37	1	233514845	233514845	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:233514845C>T	ENST00000366624.3	+	9	2354	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	MLK4_ENST00000366622.1_Missense_Mutation_p.A144V	NM_032435.2	NP_115811.2																					GCGAATGCTGCCACAGTCTCC	0.522																																																	0													62.0	69.0	67.0					1																	233514845		2203	4300	6503	SO:0001583	missense	84451																														ENST00000366624.3:c.2093C>T	1.37:g.233514845C>T	ENSP00000355583:p.Ala698Val			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.A698V	ENST00000366624.3	37	c.2093	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479374	0.26511	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.37915	1.17;1.17	4.83	1.98	0.26296	.	0.716510	0.13171	N	0.408255	T	0.30792	0.0776	L	0.52011	1.625	0.21841	N	0.999512	B;B	0.30281	0.275;0.104	B;B	0.26202	0.067;0.04	T	0.17684	-1.0361	10	0.62326	D	0.03	.	9.3816	0.38318	0.0:0.7708:0.0:0.2292	.	145;698	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	V	698;144	ENSP00000355583:A698V;ENSP00000355581:A144V	ENSP00000355581:A144V	A	+	2	0	RP5-862P8.2	231581468	0.996000	0.38824	0.004000	0.12327	0.013000	0.08279	3.686000	0.54685	0.259000	0.21709	0.650000	0.86243	GCC	MLK4	-	pirsf_MAPKKK9/10/11		0.522	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233514845	+1	no_errors	ENST00000366624	ensembl	human	known	70_37	missense	SNP	0.685	T
KIAA1804	84451	genome.wustl.edu	37	1	233518365	233518365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:233518365C>T	ENST00000366624.3	+	10	3280	c.3019C>T	c.(3019-3021)Cag>Tag	p.Q1007*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Q453*	NM_032435.2	NP_115811.2																					CGTGGAAGGTCAGAGCAGGGA	0.502																																																	0													103.0	86.0	92.0					1																	233518365		2203	4300	6503	SO:0001587	stop_gained	84451																														ENST00000366624.3:c.3019C>T	1.37:g.233518365C>T	ENSP00000355583:p.Gln1007*			Nonsense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q1007*	ENST00000366624.3	37	c.3019	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.069314	0.99330	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.4895	0.84197	0.0:1.0:0.0:0.0	.	.	.	.	X	1007;453	.	ENSP00000355581:Q453X	Q	+	1	0	RP5-862P8.2	231584988	1.000000	0.71417	0.132000	0.22025	0.827000	0.46813	6.810000	0.75216	2.549000	0.85964	0.563000	0.77884	CAG	MLK4	-	pirsf_MAPKKK9/10/11		0.502	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233518365	+1	no_errors	ENST00000366624	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIDINS220	57498	genome.wustl.edu	37	2	8931324	8931325	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:8931324_8931325insCA	ENST00000256707.3	-	13	1487_1488	c.1306_1307insTG	c.(1306-1308)gacfs	p.D436fs	KIDINS220_ENST00000427284.1_Frame_Shift_Ins_p.D436fs|KIDINS220_ENST00000473731.1_Frame_Shift_Ins_p.D436fs|KIDINS220_ENST00000418530.1_Frame_Shift_Ins_p.D394fs|KIDINS220_ENST00000319688.5_Frame_Shift_Ins_p.D437fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	436					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCCAAGCATGTCACCGTCTGTT	0.401																																																	0																																										SO:0001589	frameshift_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1305_1306dupTG	2.37:g.8931325_8931326dupCA	ENSP00000256707:p.Asp436fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Ins	INS	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D436fs	ENST00000256707.3	37	c.1307_1306	CCDS42650.1	2																																																																																			KIDINS220	-	NULL		0.401	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	NM_020738		8931325	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	CA
KIF20B	9585	genome.wustl.edu	37	10	91533786	91533786	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:91533786G>A	ENST00000371728.3	+	33	5509	c.5444G>A	c.(5443-5445)cGa>cAa	p.R1815Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.R1775Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.R1845Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1815	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.R1775Q(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CGACGACTTCGAACAAAAACA	0.284																																																	1	Substitution - Missense(1)	large_intestine(1)											49.0	53.0	52.0					10																	91533786		2203	4292	6495	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5444G>A	10.37:g.91533786G>A	ENSP00000360793:p.Arg1815Gln		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1845Q	ENST00000371728.3	37	c.5534		10	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085165	0.55861	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.59224	0.28;0.28;0.28	6.03	3.2	0.36748	.	0.198132	0.25178	N	0.032545	T	0.69833	0.3155	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.74348	0.978;0.983	T	0.68743	-0.5328	10	0.87932	D	0	-4.7534	8.4725	0.32993	0.24:0.0:0.76:0.0	.	1815;1775	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	1775;1845;1815	ENSP00000260753:R1775Q;ENSP00000411545:R1845Q;ENSP00000360793:R1815Q	ENSP00000260753:R1775Q	R	+	2	0	KIF20B	91523766	1.000000	0.71417	0.827000	0.32855	0.328000	0.28507	3.601000	0.54059	0.449000	0.26747	-0.140000	0.14226	CGA	KIF20B	-	NULL		0.284	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91533786	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.851	A
LAMC1	3915	genome.wustl.edu	37	1	183090971	183090971	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:183090971G>C	ENST00000258341.4	+	12	2361	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	702	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCAGTTTTGTGAGATGTGCCT	0.547																																																	0													172.0	153.0	159.0					1																	183090971		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2104G>C	1.37:g.183090971G>C	ENSP00000258341:p.Glu702Gln		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E702Q	ENST00000258341.4	37	c.2104	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828915	0.71258	.	.	ENSG00000135862	ENST00000258341	T	0.37235	1.21	5.17	4.22	0.49857	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.65320	2	0.80722	D	1	P	0.42961	0.795	P	0.46975	0.533	T	0.52917	-0.8511	10	0.87932	D	0	.	15.7549	0.78015	0.0:0.1362:0.8638:0.0	.	702	P11047	LAMC1_HUMAN	Q	702	ENSP00000258341:E702Q	ENSP00000258341:E702Q	E	+	1	0	LAMC1	181357594	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	6.880000	0.75578	2.402000	0.81655	0.655000	0.94253	GAG	LAMC1	-	NULL		0.547	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	G	NM_002293		183090971	+1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	1.000	C
LDHC	3948	genome.wustl.edu	37	11	18467785	18467785	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:18467785T>C	ENST00000541669.1	+	7	850	c.739T>C	c.(739-741)Tat>Cat	p.Y247H	LDHC_ENST00000544105.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.Y233H|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.Y247H			P07864	LDHC_HUMAN	lactate dehydrogenase C	247					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAAGGGGTATACCTCTTG	0.383																																																	0													180.0	178.0	179.0					11																	18467785		2199	4293	6492	SO:0001583	missense	3948			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.739T>C	11.37:g.18467785T>C	ENSP00000437783:p.Tyr247His		D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.Y247H	ENST00000541669.1	37	c.739	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195347	0.78902	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000536880	T;T;T	0.67345	-0.26;-0.26;-0.26	4.78	4.78	0.61160	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	M	0.87547	2.89	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.85000	0.0899	10	0.66056	D	0.02	-14.9734	11.9271	0.52825	0.0:0.0:0.0:1.0	.	247	P07864	LDHC_HUMAN	H	247;247;233	ENSP00000437783:Y247H;ENSP00000280704:Y247H;ENSP00000439555:Y233H	ENSP00000280704:Y247H	Y	+	1	0	LDHC	18424361	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.134000	0.77268	2.003000	0.58678	0.397000	0.26171	TAT	LDHC	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH		0.383	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	T	NM_017448		18467785	+1	no_errors	ENST00000280704	ensembl	human	known	70_37	missense	SNP	1.000	C
LDLRAP1	26119	genome.wustl.edu	37	1	25894702	25894702	+	3'UTR	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:25894702C>T	ENST00000374338.4	+	0	2265				LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1						amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCTGTCTCTCTTGTTGAT	0.448																																																	0																																										SO:0001624	3_prime_UTR_variant	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.*1219C>T	1.37:g.25894702C>T			A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	RNA	SNP	-	NULL	ENST00000374338.4	37	NULL	CCDS30639.1	1																																																																																			LDLRAP1	-	-		0.448	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	C	NM_015627		25894702	+1	no_errors	ENST00000488127	ensembl	human	known	70_37	rna	SNP	0.000	T
SLC17A7	57030	genome.wustl.edu	37	19	49929715	49929715	+	IGR	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:49929715C>G	ENST00000221485.3	-	0	2973				CTD-3148I10.1_ENST00000576655.1_Missense_Mutation_p.L10V	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GATCCTCTTCCTCGTCTTCCT	0.622																																																	0																																										SO:0001628	intergenic_variant	100507003			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7			19.37:g.49929715C>G			B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	NULL	p.L10V	ENST00000221485.3	37	c.28	CCDS12764.1	19																																																																																			CTD-3148I10.1	-	NULL		0.622	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507003	Clone_based_vega_gene	protein_coding	OTTHUMT00000465367.2	C			49929715	+1	no_errors	ENST00000576655	ensembl	human	putative	70_37	missense	SNP	0.945	G
LRFN1	57622	genome.wustl.edu	37	19	39799112	39799112	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:39799112C>T	ENST00000248668.4	-	2	1476	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	493	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACCGCCAGCACGCACAAGTCG	0.692																																																	0													16.0	18.0	17.0					19																	39799112		2012	4114	6126	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1477G>A	19.37:g.39799112C>T	ENSP00000248668:p.Val493Met		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V493M	ENST00000248668.4	37	c.1477	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015760	0.75161	.	.	ENSG00000128011	ENST00000248668	T	0.74106	-0.81	4.49	3.41	0.39046	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34959	N	0.003544	D	0.85392	0.5686	M	0.82823	2.61	0.53688	D	0.999973	D	0.89917	1.0	D	0.85130	0.997	D	0.86563	0.1842	10	0.87932	D	0	.	11.1769	0.48606	0.1853:0.8147:0.0:0.0	.	493	Q9P244	LRFN1_HUMAN	M	493	ENSP00000248668:V493M	ENSP00000248668:V493M	V	-	1	0	LRFN1	44490952	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.483000	0.81158	1.056000	0.40484	0.462000	0.41574	GTG	LRFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	C	NM_020862		39799112	-1	no_errors	ENST00000248668	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC17A7	57030	genome.wustl.edu	37	19	49930563	49930563	+	IGR	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:49930563C>T	ENST00000221485.3	-	0	2973				CTD-3148I10.1_ENST00000576655.1_Silent_p.F292F	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTGTGCCCTTCAAGGATGACG	0.517																																																	0																																										SO:0001628	intergenic_variant	100507003			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7			19.37:g.49930563C>T			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	NULL	p.F292	ENST00000221485.3	37	c.876	CCDS12764.1	19																																																																																			CTD-3148I10.1	-	NULL		0.517	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507003	Clone_based_vega_gene	protein_coding	OTTHUMT00000465367.2	C			49930563	+1	no_errors	ENST00000576655	ensembl	human	putative	70_37	silent	SNP	0.171	T
LRRC37A3	374819	genome.wustl.edu	37	17	62892990	62892990	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:62892990G>A	ENST00000584306.1	-	3	916	c.386C>T	c.(385-387)tCa>tTa	p.S129L	RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S129L|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	129						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTGCTGTGAAGCCAAGAA	0.547																																																	0													13.0	21.0	18.0					17																	62892990		1295	3088	4383	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.386C>T	17.37:g.62892990G>A	ENSP00000464535:p.Ser129Leu		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S129L	ENST00000584306.1	37	c.386	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	2.585	-0.296473	0.05532	.	.	ENSG00000176809	ENST00000319651	T	0.60672	0.17	1.64	-0.537	0.11872	.	.	.	.	.	T	0.29716	0.0742	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14727	-1.0462	9	0.25106	T	0.35	.	4.0593	0.09831	0.4253:0.0:0.5747:0.0	.	129	O60309	L37A3_HUMAN	L	129	ENSP00000325713:S129L	ENSP00000325713:S129L	S	-	2	0	LRRC37A3	60323452	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.067000	0.11579	-0.108000	0.12066	0.162000	0.16502	TCA	LRRC37A3	-	NULL		0.547	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62892990	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	A
LZTR1	8216	genome.wustl.edu	37	22	21346583	21346583	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:21346583C>G	ENST00000215739.8	+	10	1433	c.1074C>G	c.(1072-1074)ttC>ttG	p.F358L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F339L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	358					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGGTTGGCTTCAAGAAGTCCC	0.607																																																	0													102.0	95.0	97.0					22																	21346583		2203	4300	6503	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1074C>G	22.37:g.21346583C>G	ENSP00000215739:p.Phe358Leu		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.F358L	ENST00000215739.8	37	c.1074	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650335	0.29336	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.57107	0.86;0.42	4.87	1.62	0.23740	.	0.210224	0.38897	N	0.001525	T	0.24198	0.0586	N	0.08118	0	0.26246	N	0.978791	B;B;B;B	0.23591	0.015;0.088;0.002;0.003	B;B;B;B	0.18871	0.005;0.023;0.003;0.009	T	0.18335	-1.0340	10	0.12103	T	0.63	-21.7689	6.5015	0.22172	0.0:0.6823:0.0:0.3177	.	339;317;358;317	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	317;358;339	ENSP00000215739:F358L;ENSP00000374006:F339L	ENSP00000215739:F358L	F	+	3	2	LZTR1	19676583	0.991000	0.36638	0.999000	0.59377	0.853000	0.48598	0.050000	0.14120	0.207000	0.20607	0.449000	0.29647	TTC	LZTR1	-	NULL		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	C	NM_006767		21346583	+1	no_errors	ENST00000215739	ensembl	human	known	70_37	missense	SNP	1.000	G
MAGEE1	57692	genome.wustl.edu	37	X	75649186	75649186	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:75649186G>A	ENST00000361470.2	+	1	1141	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	288	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCCCACCCGCGGTAAGGGA	0.701																																																	0													28.0	24.0	25.0					X																	75649186		2200	4294	6494	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.863G>A	X.37:g.75649186G>A	ENSP00000354912:p.Arg288His		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R288H	ENST00000361470.2	37	c.863	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626210	0.46840	.	.	ENSG00000198934	ENST00000361470	T	0.09445	2.98	1.6	-2.61	0.06171	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.01281	0.0	T	0.35151	-0.9800	9	0.54805	T	0.06	.	0.9595	0.01393	0.171:0.3882:0.1684:0.2724	.	288	Q9HCI5	MAGE1_HUMAN	H	288	ENSP00000354912:R288H	ENSP00000354912:R288H	R	+	2	0	MAGEE1	75565590	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.314000	0.01125	-1.692000	0.01428	-1.326000	0.01283	CGC	MAGEE1	-	NULL		0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649186	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.000	A
MAGT1	84061	genome.wustl.edu	37	X	77150969	77150969	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:77150969G>A	ENST00000358075.6	-	1	121	c.35C>T	c.(34-36)tCa>tTa	p.S12L	MAGT1_ENST00000373336.3_5'Flank	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	0					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GGTGGGGCGTGAGAACAGGCA	0.602																																																	0													93.0	87.0	88.0					X																	77150969		692	1591	2283	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.35C>T	X.37:g.77150969G>A	ENSP00000354649:p.Ser12Leu		B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold	p.S12L	ENST00000358075.6	37	c.35	CCDS14436.2	X	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922884	0.52653	.	.	ENSG00000102158	ENST00000358075	T	0.45668	0.89	4.58	4.58	0.56647	.	.	.	.	.	T	0.26268	0.0641	N	0.14661	0.345	0.80722	D	1	P	0.41673	0.759	B	0.37943	0.261	T	0.11299	-1.0593	9	0.56958	D	0.05	.	11.7096	0.51618	0.0:0.0:1.0:0.0	.	12	B4DH58	.	L	12	ENSP00000354649:S12L	ENSP00000354649:S12L	S	-	2	0	MAGT1	77037625	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.637000	0.46553	2.246000	0.74042	0.544000	0.68410	TCA	MAGT1	-	NULL		0.602	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGT1	HGNC	protein_coding	OTTHUMT00000057301.2	G	NM_032121		77150969	-1	no_errors	ENST00000358075	ensembl	human	known	70_37	missense	SNP	0.998	A
MAMDC2	256691	genome.wustl.edu	37	9	72727910	72727910	+	Splice_Site	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:72727910G>A	ENST00000377182.4	+	5	1122		c.e5-1		MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2						peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCCTTCCCCAGAATGTGACTT	0.443																																																	0													120.0	112.0	115.0					9																	72727910		2203	4300	6503	SO:0001630	splice_region_variant	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.506-1G>A	9.37:g.72727910G>A			Q5VW47|Q8WX43|Q96BM4	Splice_Site	SNP	-	e5-1	ENST00000377182.4	37	c.506-1	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309285	0.81247	.	.	ENSG00000165072	ENST00000377182	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1445	0.98072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAMDC2	71917730	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.963000	0.76055	2.765000	0.95021	0.561000	0.74099	.	MAMDC2	-	-		0.443	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	G	NM_153267	Intron	72727910	+1	no_errors	ENST00000377182	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MAP3K19	80122	genome.wustl.edu	37	2	135745585	135745585	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:135745585G>A	ENST00000375845.3	-	7	887	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S173L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S303L|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	286							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CATGTTTCTTGACCAAATGAA	0.453																																																	0													100.0	100.0	100.0					2																	135745585		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.857C>T	2.37:g.135745585G>A	ENSP00000365005:p.Ser286Leu		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	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.S286L	ENST00000375845.3	37	c.857	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790969	0.70452	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.79247	-1.25;-1.17;1.06	4.81	4.81	0.61882	.	0.000000	0.36972	N	0.002313	T	0.75004	0.3791	L	0.47190	1.495	0.80722	D	1	P;D;P	0.55605	0.86;0.972;0.877	P;P;B	0.47075	0.536;0.536;0.335	T	0.78380	-0.2226	10	0.87932	D	0	.	11.7531	0.51859	0.0835:0.0:0.9165:0.0	.	173;303;286	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	286;173;303	ENSP00000365005:S286L;ENSP00000351140:S173L;ENSP00000376647:S303L	ENSP00000351140:S173L	S	-	2	0	YSK4	135462055	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.863000	0.48396	2.480000	0.83734	0.650000	0.86243	TCA	MAP3K19	-	NULL		0.453	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135745585	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.983	A
MAPKAP1	79109	genome.wustl.edu	37	9	128206818	128206818	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:128206818C>T	ENST00000373498.1	-	10	1473	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	MAPKAP1_ENST00000265960.3_Missense_Mutation_p.E469K|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E422K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E277K|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.E182K|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E433K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E277K			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	469	Interaction with ATF2.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GCGTCCGATTCAAAGTAGAGG	0.453																																																	0													185.0	163.0	171.0					9																	128206818		2203	4300	6503	SO:0001583	missense	79109			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1405G>A	9.37:g.128206818C>T	ENSP00000362597:p.Glu469Lys		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.E469K	ENST00000373498.1	37	c.1405	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.572709	0.96553	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373497;ENST00000420643	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.79108	0.992;0.947;0.941;0.989	D	0.83944	0.0313	9	0.72032	D	0.01	-17.0898	20.2985	0.98592	0.0:1.0:0.0:0.0	.	182;422;433;469	B7Z5E5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	K	422;433;277;469;469;277;182;241	.	ENSP00000265960:E469K	E	-	1	0	MAPKAP1	127246639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.432000	0.66514	2.793000	0.96121	0.655000	0.94253	GAA	MAPKAP1	-	pfam_SIN1		0.453	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	C			128206818	-1	no_errors	ENST00000265960	ensembl	human	known	70_37	missense	SNP	1.000	T
MATN2	4147	genome.wustl.edu	37	8	98943460	98943460	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:98943460A>G	ENST00000520016.1	+	2	546	c.422A>G	c.(421-423)cAg>cGg	p.Q141R	MATN2_ENST00000521689.1_Missense_Mutation_p.Q141R|MATN2_ENST00000524308.1_Missense_Mutation_p.Q141R|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.Q141R			O00339	MATN2_HUMAN	matrilin 2	141	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGGCCATCCAGTATGCCCTG	0.587																																																	0													42.0	46.0	45.0					8																	98943460		2092	4250	6342	SO:0001583	missense	4147			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.422A>G	8.37:g.98943460A>G	ENSP00000430487:p.Gln141Arg		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.Q141R	ENST00000520016.1	37	c.422	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713457	0.68730	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.85999	0.5828	L	0.28556	0.865	0.38938	D	0.958087	P;D;D;D	0.76494	0.884;0.984;0.999;0.999	P;D;D;D	0.83275	0.834;0.969;0.996;0.996	D	0.85206	0.1018	10	0.28530	T	0.3	-26.7197	16.4608	0.84044	1.0:0.0:0.0:0.0	.	141;141;141;141	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	R	141	ENSP00000429977:Q141R;ENSP00000254898:Q141R;ENSP00000430221:Q141R;ENSP00000430487:Q141R	ENSP00000254898:Q141R	Q	+	2	0	MATN2	99012636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.300000	0.72776	2.288000	0.76882	0.533000	0.62120	CAG	MATN2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	A			98943460	+1	no_errors	ENST00000254898	ensembl	human	known	70_37	missense	SNP	1.000	G
MBOAT1	154141	genome.wustl.edu	37	6	20109874	20109874	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:20109874G>A	ENST00000324607.7	-	12	1480	c.1316C>T	c.(1315-1317)gCa>gTa	p.A439V	MBOAT1_ENST00000541730.1_Missense_Mutation_p.A290V	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	439					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			CACAAAGGGTGCTACCGTGTA	0.463																																																	0													174.0	150.0	158.0					6																	20109874		2203	4300	6503	SO:0001583	missense	154141			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1316C>T	6.37:g.20109874G>A	ENSP00000324944:p.Ala439Val		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.A439V	ENST00000324607.7	37	c.1316	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.849163	0.02651	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.15603	2.41;2.91	5.38	4.5	0.54988	.	0.136966	0.64402	D	0.000003	T	0.02727	0.0082	N	0.11818	0.18	0.48571	D	0.999673	B;B	0.18166	0.002;0.026	B;B	0.23574	0.02;0.047	T	0.29792	-1.0000	10	0.02654	T	1	-13.8209	9.7712	0.40591	0.1506:0.0:0.8494:0.0	.	290;439	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	V	290;439	ENSP00000441568:A290V;ENSP00000324944:A439V	ENSP00000324944:A439V	A	-	2	0	MBOAT1	20217853	1.000000	0.71417	0.127000	0.21898	0.053000	0.15095	4.868000	0.63021	2.649000	0.89929	0.655000	0.94253	GCA	MBOAT1	-	NULL		0.463	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	G			20109874	-1	no_errors	ENST00000324607	ensembl	human	known	70_37	missense	SNP	0.287	A
MCF2	4168	genome.wustl.edu	37	X	138678828	138678828	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:138678828G>C	ENST00000370576.4	-	19	2366	c.2157C>G	c.(2155-2157)ttC>ttG	p.F719L	MCF2_ENST00000370578.4_Missense_Mutation_p.F864L|MCF2_ENST00000536274.1_Missense_Mutation_p.F680L|MCF2_ENST00000338585.6_Missense_Mutation_p.F735L|MCF2_ENST00000520602.1_Missense_Mutation_p.F779L|MCF2_ENST00000414978.1_Missense_Mutation_p.F779L|MCF2_ENST00000519895.1_Missense_Mutation_p.F795L|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.F719L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	719	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCATTGGTTTGAATCTAGCCA	0.413																																																	0													179.0	149.0	159.0					X																	138678828		2203	4300	6503	SO:0001583	missense	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2157C>G	X.37:g.138678828G>C	ENSP00000359608:p.Phe719Leu		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F864L	ENST00000370576.4	37	c.2592	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.081122|4.081122	0.76528|0.76528	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.51817|.	1.25;1.15;1.06;1.24;1.25;0.69;1.32;1.17;1.22|.	5.78|5.78	4.92|4.92	0.64577|0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62792|0.62792	0.2457|0.2457	L|L	0.56280|0.56280	1.765|1.765	0.44462|0.44462	D|D	0.99739|0.99739	P;D;P;P;P;P;D;P|.	0.89917|.	0.943;0.999;0.925;0.943;0.925;0.877;1.0;0.943|.	P;D;P;P;P;B;D;P|.	0.87578|.	0.478;0.994;0.606;0.478;0.508;0.401;0.998;0.478|.	T|T	0.60219|0.60219	-0.7306|-0.7306	10|5	0.35671|.	T|.	0.21|.	.|.	12.7171|12.7171	0.57121|0.57121	0.0803:0.0:0.9197:0.0|0.0803:0.0:0.9197:0.0	.|.	795;864;680;719;719;864;735;719|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	L|E	779;719;680;864;779;322;795;719;735|223	ENSP00000427745:F779L;ENSP00000359608:F719L;ENSP00000438155:F680L;ENSP00000359610:F864L;ENSP00000397055:F779L;ENSP00000405848:F322L;ENSP00000430276:F795L;ENSP00000359605:F719L;ENSP00000342204:F735L|.	ENSP00000342204:F735L|.	F|Q	-|-	3|1	2|0	MCF2|MCF2	138506494|138506494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.820000|4.820000	0.62671|0.62671	1.187000|1.187000	0.43000|0.43000	0.600000|0.600000	0.82982|0.82982	TTC|CAA	MCF2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.413	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	G	NM_005369		138678828	-1	no_errors	ENST00000370578	ensembl	human	known	70_37	missense	SNP	1.000	C
MED26	9441	genome.wustl.edu	37	19	16687305	16687305	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:16687305C>G	ENST00000263390.3	-	3	1598	c.1336G>C	c.(1336-1338)Gac>Cac	p.D446H	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	446					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						ACAGGGCTGTCTGCCCGCACT	0.597																																																	0													79.0	70.0	73.0					19																	16687305		2203	4300	6503	SO:0001583	missense	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1336G>C	19.37:g.16687305C>G	ENSP00000263390:p.Asp446His		A1A4S3|Q0VGB6	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.D446H	ENST00000263390.3	37	c.1336	CCDS12347.1	19	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542145	0.45280	.	.	ENSG00000105085	ENST00000263390	T	0.43294	0.95	5.14	2.97	0.34412	.	0.212948	0.46758	D	0.000271	T	0.40886	0.1135	L	0.51422	1.61	0.09310	N	0.999994	B	0.34103	0.437	B	0.40825	0.341	T	0.35773	-0.9775	10	0.62326	D	0.03	-16.8763	9.5257	0.39162	0.1423:0.7828:0.0:0.0749	.	446	O95402	MED26_HUMAN	H	446	ENSP00000263390:D446H	ENSP00000263390:D446H	D	-	1	0	MED26	16548305	1.000000	0.71417	0.202000	0.23494	0.831000	0.47069	4.526000	0.60566	0.663000	0.31027	-0.291000	0.09656	GAC	MED26	-	NULL		0.597	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED26	HGNC	protein_coding	OTTHUMT00000461178.1	C	NM_004831		16687305	-1	no_errors	ENST00000263390	ensembl	human	known	70_37	missense	SNP	0.299	G
MED25	81857	genome.wustl.edu	37	19	50338817	50338817	+	Silent	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:50338817G>T	ENST00000312865.6	+	15	1754	c.1701G>T	c.(1699-1701)ggG>ggT	p.G567G	MED25_ENST00000538643.1_Silent_p.G354G	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	567	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACCCCCAGGGCTGGGGCCCA	0.687																																					GBM(51;894 1657 37868)												0													8.0	8.0	8.0					19																	50338817		2164	4261	6425	SO:0001819	synonymous_variant	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1701G>T	19.37:g.50338817G>T			A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Silent	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.G567	ENST00000312865.6	37	c.1701	CCDS33075.1	19																																																																																			MED25	-	NULL		0.687	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	G	NM_030973		50338817	+1	no_errors	ENST00000312865	ensembl	human	known	70_37	silent	SNP	0.533	T
KMT2C	58508	genome.wustl.edu	37	7	151874923	151874923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:151874923G>A	ENST00000262189.6	-	38	7833	c.7615C>T	c.(7615-7617)Cag>Tag	p.Q2539*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2539*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2539	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAAAAATGCTGAGGAAGTCCA	0.453																																																	0													123.0	126.0	125.0					7																	151874923		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7615C>T	7.37:g.151874923G>A	ENSP00000262189:p.Gln2539*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q2539*	ENST00000262189.6	37	c.7615	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.395385|15.395385	0.99832|0.99832	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	5.75|5.75	4.86|4.86	0.63082|0.63082	.|.	0.000000|.	0.44285|.	D|.	0.000471|.	.|T	.|0.72898	.|0.3518	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72915	.|-0.4147	.|4	0.51188|.	T|.	0.08|.	.|.	16.8113|16.8113	0.85720|0.85720	0.0:0.1288:0.8712:0.0|0.0:0.1288:0.8712:0.0	.|.	.|.	.|.	.|.	X|L	2539|44	.|.	ENSP00000262189:Q2539X|.	Q|S	-|-	1|2	0|0	MLL3|MLL3	151505856|151505856	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.969000|0.969000	0.65631|0.65631	7.483000|7.483000	0.81158|0.81158	1.424000|1.424000	0.47217|0.47217	0.650000|0.650000	0.86243|0.86243	CAG|TCA	MLL3	-	NULL		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151874923	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	8993541	8993541	+	Missense_Mutation	SNP	C	C	G	rs547030245		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:8993541C>G	ENST00000397910.4	-	66	41751	c.41548G>C	c.(41548-41550)Gag>Cag	p.E13850Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E491Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13853	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATCTTTCTCTGGCCTAGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19355	0.0		0.0	False		,,,				2504	0.0																0													47.0	45.0	46.0					19																	8993541		1908	4135	6043	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41548G>C	19.37:g.8993541C>G	ENSP00000381008:p.Glu13850Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E13850Q	ENST00000397910.4	37	c.41548	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.471|8.471	0.857581|0.857581	0.17106|0.17106	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.36878|.	1.23;1.23|.	3.47|3.47	-0.212|-0.212	0.13169|0.13169	SEA (1);|.	0.776429|.	0.10520|.	U|.	0.665074|.	T|T	0.55970|0.55970	0.1954|0.1954	M|M	0.87328|0.87328	2.875|2.875	.|.	.|.	.|.	P;D|.	0.53745|.	0.901;0.962|.	P;D|.	0.66716|.	0.619;0.946|.	T|T	0.59857|0.59857	-0.7375|-0.7375	9|4	0.33141|.	T|.	0.24|.	.|.	2.6435|2.6435	0.04978|0.04978	0.2275:0.5119:0.0:0.2606|0.2275:0.5119:0.0:0.2606	.|.	21495;13850|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	Q|H	13850;491|689	ENSP00000381008:E13850Q;ENSP00000370338:E491Q|.	ENSP00000370338:E491Q|.	E|Q	-|-	1|3	0|2	MUC16|MUC16	8854541|8854541	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.098000|0.098000	0.18820|0.18820	-0.063000|-0.063000	0.11655|0.11655	0.293000|0.293000	0.22520|0.22520	0.557000|0.557000	0.71058|0.71058	GAG|CAG	MUC16	-	pfam_SEA		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		8993541	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	G
KMT2B	9757	genome.wustl.edu	37	19	36223347	36223347	+	Missense_Mutation	SNP	C	C	T	rs201138169		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:36223347C>T	ENST00000222270.7	+	28	5897	c.5897C>T	c.(5896-5898)tCt>tTt	p.S1966F	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1966F	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1966	Poly-Pro.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCGGCCCCATCTCCACCACCC	0.657																																																	0								C	PHE/SER	1,3939		0,1,1969	35.0	41.0	39.0		5897	4.5	1.0	19		39	1,8285		0,1,4142	yes	missense	MLL4	NM_014727.1	155	0,2,6111	TT,TC,CC		0.0121,0.0254,0.0164	probably-damaging	1966/2716	36223347	2,12224	1970	4143	6113	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5897C>T	19.37:g.36223347C>T	ENSP00000222270:p.Ser1966Phe		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.S1966F	ENST00000222270.7	37	c.5897	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897051	0.33535	2.54E-4	1.21E-4	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.87491	-2.26;-2.26	4.53	4.53	0.55603	.	0.000000	0.44097	D	0.000494	D	0.89210	0.6650	L	0.51422	1.61	0.32722	N	0.510186	D	0.61080	0.989	P	0.56700	0.804	D	0.91773	0.5429	10	0.72032	D	0.01	.	14.6338	0.68676	0.0:1.0:0.0:0.0	.	1966	Q9UMN6	MLL4_HUMAN	F	1966	ENSP00000222270:S1966F;ENSP00000398837:S1966F	ENSP00000222270:S1966F	S	+	2	0	AD000671.1	40915187	0.638000	0.27225	0.967000	0.41034	0.780000	0.44128	3.045000	0.49838	2.515000	0.84797	0.462000	0.41574	TCT	WBP7	-	pirsf_MeTrfase_trithorax		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		C	NM_014727		36223347	+1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	0.993	T
MUC4	4585	genome.wustl.edu	37	3	195490965	195490965	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:195490965C>T	ENST00000346145.4	-	10	1326	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	MUC4_ENST00000463781.3_Silent_p.Q4665Q|MUC4_ENST00000349607.4_Silent_p.Q378Q|MUC4_ENST00000475231.1_Silent_p.Q4613Q	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1422					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCGCCTCTGCTGGTACAGGG	0.667																																																	0													19.0	16.0	17.0					3																	195490965		2200	4299	6499	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1287G>A	3.37:g.195490965C>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.Q4665	ENST00000346145.4	37	c.13995	CCDS3310.1	3																																																																																			MUC4	-	pfam_AMOP,smart_AMOP,pfscan_AMOP		0.667	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	C	NM_018406		195490965	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.964	T
MUC4	4585	genome.wustl.edu	37	3	195509059	195509059	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:195509059G>C	ENST00000463781.3	-	2	9851	c.9392C>G	c.(9391-9393)aCa>aGa	p.T3131R	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3131R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCCTGACCTGTGGATGCTGA	0.587																																																	0													16.0	9.0	11.0					3																	195509059		658	1534	2192	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9392C>G	3.37:g.195509059G>C	ENSP00000417498:p.Thr3131Arg		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.T3131R	ENST00000463781.3	37	c.9392	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	4.620	0.115248	0.08831	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.38560	1.13;1.26	.	.	.	.	.	.	.	.	T	0.22044	0.0531	N	0.19112	0.55	0.09310	N	0.999999	P	0.50156	0.932	B	0.40782	0.34	T	0.10200	-1.0640	7	.	.	.	.	3.2503	0.06812	0.362:0.0:0.638:0.0	.	3003	E7ESK3	.	R	3131	ENSP00000417498:T3131R;ENSP00000420243:T3131R	.	T	-	2	0	MUC4	196993838	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.284000	0.18864	-0.000000	0.14550	0.000000	0.15137	ACA	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195509059	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.546	C
MXI1	4601	genome.wustl.edu	37	10	112045704	112045705	+	3'UTR	INS	-	-	A	rs569487570		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:112045704_112045705insA	ENST00000239007.7	+	0	1864_1865				MXI1_ENST00000332674.5_3'UTR|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGCTTATCCATAAAAAAAAATA	0.322																																																	0																																										SO:0001624	3_prime_UTR_variant	4601			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.*960->A	10.37:g.112045713_112045713dupA			B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	RNA	INS	-	NULL	ENST00000239007.7	37	NULL	CCDS7564.2	10																																																																																			MXI1	-	-		0.322	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1	-	NM_130439		112045705	+1	no_errors	ENST00000485566	ensembl	human	known	70_37	rna	INS	0.991:0.827	A
MYH13	8735	genome.wustl.edu	37	17	10219250	10219250	+	Silent	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:10219250C>G	ENST00000418404.3	-	27	3994	c.3831G>C	c.(3829-3831)ctG>ctC	p.L1277L	MYH13_ENST00000252172.4_Silent_p.L1277L|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1277					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGCATGTTCAGATCATGGA	0.493																																																	0													235.0	231.0	232.0					17																	10219250		2012	4172	6184	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3831G>C	17.37:g.10219250C>G			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1277	ENST00000418404.3	37	c.3831	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail,superfamily_Prefoldin		0.493	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10219250	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	1.000	G
SEPT1	1731	genome.wustl.edu	37	16	30388990	30388990	+	IGR	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:30388990G>A	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Silent_p.L124L			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGGAGCTGCTGACCACGCAGT	0.667																																																	0													56.0	45.0	48.0					16																	30388990		2197	4300	6497	SO:0001628	intergenic_variant	29895			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30388990G>A			B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L124	ENST00000571393.1	37	c.372		16																																																																																			MYLPF	-	smart_EF_hand_Ca-bd		0.667	SEPT1-201	KNOWN	basic	protein_coding	MYLPF	HGNC	protein_coding		G	NM_052838		30388990	+1	no_errors	ENST00000322861	ensembl	human	known	70_37	silent	SNP	0.337	A
NCLN	56926	genome.wustl.edu	37	19	3193402	3193402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3193402C>T	ENST00000246117.4	+	3	927	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	NCLN_ENST00000590671.1_Nonsense_Mutation_p.Q92*	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	166					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGCCTCCCAGGGCTCCGC	0.687																																																	0													47.0	39.0	42.0					19																	3193402		2202	4299	6501	SO:0001587	stop_gained	56926			BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"""nicastrin-like protein"""	609156	"""nicalin homolog (zebrafish)"""			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.496C>T	19.37:g.3193402C>T	ENSP00000246117:p.Gln166*		D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Nonsense_Mutation	SNP	pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin	p.Q166*	ENST00000246117.4	37	c.496	CCDS32869.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.372400	0.97515	.	.	ENSG00000125912	ENST00000246117	.	.	.	4.18	4.18	0.49190	.	0.266399	0.38272	N	0.001757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.5661	15.0924	0.72204	0.0:1.0:0.0:0.0	.	.	.	.	X	166	.	ENSP00000246117:Q166X	Q	+	1	0	NCLN	3144402	1.000000	0.71417	0.999000	0.59377	0.685000	0.39939	7.380000	0.79704	1.882000	0.54519	0.511000	0.50034	CAG	NCLN	-	pirsf_Nicalin		0.687	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCLN	HGNC	protein_coding	OTTHUMT00000452545.1	C	NM_020170		3193402	+1	no_errors	ENST00000246117	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MZF1	7593	genome.wustl.edu	37	19	59082675	59082675	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:59082675C>G	ENST00000215057.2	-	2	642	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	MZF1_ENST00000599369.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594108.1_Missense_Mutation_p.E28Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E28Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	28					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E28Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCCTCCTCCTCAGAGTCCTCT	0.642																																																	1	Substitution - Missense(1)	urinary_tract(1)											30.0	35.0	33.0					19																	59082675		2203	4300	6503	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.82G>C	19.37:g.59082675C>G	ENSP00000215057:p.Glu28Gln		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E28Q	ENST00000215057.2	37	c.82	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626561	0.28978	.	.	ENSG00000099326	ENST00000215057	T	0.07444	3.19	3.46	3.46	0.39613	.	0.414316	0.17824	N	0.160752	T	0.04815	0.0130	N	0.08118	0	0.21445	N	0.999689	P;P	0.48911	0.917;0.61	B;B	0.42882	0.401;0.159	T	0.41822	-0.9487	9	.	.	.	-9.5958	10.7272	0.46074	0.0:1.0:0.0:0.0	.	28;28	Q7Z729;P28698	.;MZF1_HUMAN	Q	28	ENSP00000215057:E28Q	.	E	-	1	0	MZF1	63774487	0.000000	0.05858	0.985000	0.45067	0.355000	0.29361	0.718000	0.25866	2.236000	0.73375	0.655000	0.94253	GAG	MZF1	-	NULL		0.642	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	C	NM_198055		59082675	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.929	G
NOL6	65083	genome.wustl.edu	37	9	33463870	33463870	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:33463870C>T	ENST00000379471.2	-	23	3040	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.E933K			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	985					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGCTGCTTCTCTAACATGGGC	0.577																																																	0													75.0	73.0	74.0					9																	33463870		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2953G>A	9.37:g.33463870C>T	ENSP00000368784:p.Glu985Lys		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.E985K	ENST00000379471.2	37	c.2953		9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838110	0.91117	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	L	0.58101	1.795	0.80722	D	1	P;P;D;P	0.65815	0.926;0.737;0.995;0.778	P;B;D;P	0.67725	0.517;0.396;0.953;0.531	T	0.47886	-0.9082	10	0.09084	T	0.74	.	19.6732	0.95918	0.0:1.0:0.0:0.0	.	933;982;985;985	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	K	39;985;985;541;985;933	ENSP00000368783:E39K;ENSP00000297990:E985K;ENSP00000368784:E985K;ENSP00000395915:E933K	ENSP00000297990:E985K	E	-	1	0	NOL6	33453870	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.499000	0.73683	2.745000	0.94114	0.655000	0.94253	GAG	NOL6	-	pfam_Nrap		0.577	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	C	NM_022917		33463870	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	missense	SNP	1.000	T
NPAS4	266743	genome.wustl.edu	37	11	66191431	66191431	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:66191431C>G	ENST00000311034.2	+	7	1246	c.1070C>G	c.(1069-1071)tCc>tGc	p.S357C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	357					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAAGAGTGCTCCAGCACTAAC	0.552																																																	0													149.0	154.0	152.0					11																	66191431		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1070C>G	11.37:g.66191431C>G	ENSP00000311196:p.Ser357Cys		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S357C	ENST00000311034.2	37	c.1070	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017515	0.54576	.	.	ENSG00000174576	ENST00000311034	T	0.51574	0.7	4.01	4.01	0.46588	.	0.265758	0.27349	N	0.019765	T	0.35307	0.0927	L	0.27053	0.805	0.47276	D	0.999374	P	0.52170	0.951	B	0.40901	0.343	T	0.39231	-0.9624	10	0.66056	D	0.02	-9.3246	13.673	0.62436	0.0:1.0:0.0:0.0	.	357	Q8IUM7	NPAS4_HUMAN	C	357	ENSP00000311196:S357C	ENSP00000311196:S357C	S	+	2	0	NPAS4	65948007	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.508000	0.67006	2.070000	0.61991	0.563000	0.77884	TCC	NPAS4	-	NULL		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	C	NM_178864		66191431	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	G
NPEPPS	9520	genome.wustl.edu	37	17	45662986	45662986	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:45662986G>A	ENST00000322157.4	+	6	1006	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	NPEPPS_ENST00000544660.1_Missense_Mutation_p.E177K|NPEPPS_ENST00000530173.1_Missense_Mutation_p.E253K|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	257					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGACTTTGTAGAAACAAGGTC	0.413																																																	0													180.0	168.0	171.0					17																	45662986		1871	4107	5978	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.769G>A	17.37:g.45662986G>A	ENSP00000320324:p.Glu257Lys		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E257K	ENST00000322157.4	37	c.769	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.231690	0.95207	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.03004	4.08;4.08;4.08	5.52	5.52	0.82312	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.049194	0.85682	D	0.000000	T	0.17619	0.0423	M	0.81239	2.535	0.80722	D	1	P;P;P	0.52692	0.955;0.74;0.571	P;P;P	0.57371	0.819;0.457;0.457	T	0.00108	-1.2050	10	0.51188	T	0.08	.	19.4252	0.94739	0.0:0.0:1.0:0.0	.	257;253;257	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	K	253;257;244;177	ENSP00000433287:E253K;ENSP00000320324:E257K;ENSP00000442461:E177K	ENSP00000320324:E257K	E	+	1	0	NPEPPS	43017985	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.852000	0.99516	2.600000	0.87896	0.650000	0.86243	GAA	NPEPPS	-	pfam_Peptidase_M1_N		0.413	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	G	NM_006310		45662986	+1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	1.000	A
NPEPPS	9520	genome.wustl.edu	37	17	45663580	45663580	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:45663580G>C	ENST00000322157.4	+	7	1153	c.916G>C	c.(916-918)Gat>Cat	p.D306H	NPEPPS_ENST00000544660.1_Missense_Mutation_p.D226H|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D302H|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	306					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTAAAATTGATCTCATTGC	0.294																																																	0													3.0	2.0	3.0					17																	45663580		1143	2396	3539	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.916G>C	17.37:g.45663580G>C	ENSP00000320324:p.Asp306His		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D306H	ENST00000322157.4	37	c.916	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953765	0.73902	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.03663	3.85;3.85;3.85	5.71	5.71	0.89125	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01848	-1.1261	10	0.87932	D	0	.	19.8494	0.96733	0.0:0.0:1.0:0.0	.	306;302;306	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	H	302;306;293;226	ENSP00000433287:D302H;ENSP00000320324:D306H;ENSP00000442461:D226H	ENSP00000320324:D306H	D	+	1	0	NPEPPS	43018579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.705000	0.92388	0.585000	0.79938	GAT	NPEPPS	-	pfam_Peptidase_M1_N		0.294	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	G	NM_006310		45663580	+1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	1.000	C
NR2F6	2063	genome.wustl.edu	37	19	17355841	17355841	+	Silent	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:17355841C>G	ENST00000291442.3	-	1	908	c.189G>C	c.(187-189)tcG>tcC	p.S63S	AC010646.3_ENST00000594059.1_Intron	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	63					detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GCTTGCCGCTCGACTTGTCCC	0.692																																																	0													27.0	23.0	24.0					19																	17355841		2196	4295	6491	SO:0001819	synonymous_variant	2063			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.189G>C	19.37:g.17355841C>G			B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S63	ENST00000291442.3	37	c.189	CCDS12352.1	19																																																																																			NR2F6	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.692	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F6	HGNC	protein_coding	OTTHUMT00000463325.1	C			17355841	-1	no_errors	ENST00000291442	ensembl	human	known	70_37	silent	SNP	1.000	G
NRG4	145957	genome.wustl.edu	37	15	76248315	76248315	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:76248315C>G	ENST00000394907.3	-	5	470	c.289G>C	c.(289-291)Gat>Cat	p.D97H		NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	97					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						AGGTTGATATCATACTGGACT	0.408																																																	0													139.0	128.0	132.0					15																	76248315		2197	4294	6491	SO:0001583	missense	145957			BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.289G>C	15.37:g.76248315C>G	ENSP00000378367:p.Asp97His		A6NIE8	Missense_Mutation	SNP	smart_EG-like_dom,pfscan_EG-like_dom	p.D97H	ENST00000394907.3	37	c.289	CCDS10288.1	15	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129763	0.37630	.	.	ENSG00000169752	ENST00000394907	T	0.18174	2.23	5.06	4.13	0.48395	.	.	.	.	.	T	0.19127	0.0459	L	0.59436	1.845	0.38850	D	0.956257	B	0.12013	0.005	B	0.12156	0.007	T	0.03240	-1.1057	9	0.41790	T	0.15	-4.8315	12.4366	0.55602	0.0:0.8305:0.1695:0.0	.	97	Q8WWG1	NRG4_HUMAN	H	97	ENSP00000378367:D97H	ENSP00000378367:D97H	D	-	1	0	NRG4	74035370	0.996000	0.38824	0.018000	0.16275	0.259000	0.26198	1.684000	0.37649	1.072000	0.40860	0.655000	0.94253	GAT	NRG4	-	NULL		0.408	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRG4	HGNC	protein_coding	OTTHUMT00000286632.1	C	NM_138573		76248315	-1	no_errors	ENST00000394907	ensembl	human	known	70_37	missense	SNP	0.371	G
NRXN3	9369	genome.wustl.edu	37	14	79432549	79432549	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:79432549G>A	ENST00000554719.1	+	9	1949	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	NRXN3_ENST00000335750.5_Silent_p.L486L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATTGTGAGCTGAAGGCTCGTT	0.478																																																	0													167.0	130.0	142.0					14																	79432549		2203	4300	6503	SO:0001819	synonymous_variant	9369			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1458G>A	14.37:g.79432549G>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.L848	ENST00000554719.1	37	c.2544	CCDS9870.1	14																																																																																			NRXN3	-	NULL		0.478	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	G	NM_001105250		79432549	+1	no_errors	ENST00000554738	ensembl	human	known	70_37	silent	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176636850	176636850	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176636850G>C	ENST00000439151.2	+	5	1495	c.1450G>C	c.(1450-1452)Gaa>Caa	p.E484Q	NSD1_ENST00000347982.4_Missense_Mutation_p.E215Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E215Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E381Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	484					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTTGATTCTGAACATTCTGC	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													97.0	94.0	95.0					5																	176636850		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1450G>C	5.37:g.176636850G>C	ENSP00000395929:p.Glu484Gln		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E484Q	ENST00000439151.2	37	c.1450	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266310	0.59540	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93366	-3.1;-3.11;-3.1;-3.21	5.5	4.58	0.56647	.	0.089217	0.49305	D	0.000157	D	0.90038	0.6889	N	0.24115	0.695	0.25925	N	0.98307	D;D;D	0.57257	0.975;0.974;0.979	P;P;P	0.55545	0.778;0.669;0.604	T	0.82137	-0.0606	9	.	.	.	.	5.6386	0.17550	0.1276:0.193:0.6794:0.0	.	215;381;484	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	215;215;484;215;381	ENSP00000346111:E215Q;ENSP00000395929:E484Q;ENSP00000343209:E215Q;ENSP00000354310:E381Q	.	E	+	1	0	NSD1	176569456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.244000	0.51399	2.587000	0.87381	0.591000	0.81541	GAA	NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176636850	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	C
NSD1	64324	genome.wustl.edu	37	5	176636899	176636899	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176636899G>C	ENST00000439151.2	+	5	1544	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	NSD1_ENST00000347982.4_Missense_Mutation_p.R231T|NSD1_ENST00000354179.4_Missense_Mutation_p.R231T|NSD1_ENST00000361032.4_Missense_Mutation_p.R397T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	500					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTCGAGCCAGAAAGAGCTCT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													68.0	72.0	70.0					5																	176636899		2203	4299	6502	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1499G>C	5.37:g.176636899G>C	ENSP00000395929:p.Arg500Thr		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R500T	ENST00000439151.2	37	c.1499	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897605	0.52121	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93953	-3.22;-3.23;-3.22;-3.32	5.72	4.85	0.62838	.	0.079927	0.53938	D	0.000052	D	0.90724	0.7089	N	0.24115	0.695	0.26195	N	0.979533	D;D;D	0.60575	0.988;0.974;0.979	P;P;P	0.56216	0.794;0.647;0.628	D	0.83622	0.0140	9	.	.	.	.	7.8818	0.29627	0.219:0.0:0.781:0.0	.	231;397;500	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	231;231;500;231;397	ENSP00000346111:R231T;ENSP00000395929:R500T;ENSP00000343209:R231T;ENSP00000354310:R397T	.	R	+	2	0	NSD1	176569505	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	4.355000	0.59424	1.413000	0.46997	0.591000	0.81541	AGA	NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176636899	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.919	C
NSD1	64324	genome.wustl.edu	37	5	176637357	176637357	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176637357G>A	ENST00000439151.2	+	5	2002	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	NSD1_ENST00000347982.4_Missense_Mutation_p.E384K|NSD1_ENST00000354179.4_Missense_Mutation_p.E384K|NSD1_ENST00000361032.4_Missense_Mutation_p.E550K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	653					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGATCCCATAGAACACAGCTC	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													117.0	114.0	115.0					5																	176637357		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1957G>A	5.37:g.176637357G>A	ENSP00000395929:p.Glu653Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E653K	ENST00000439151.2	37	c.1957	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937722	0.52972	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93189	-3.07;-3.06;-3.07;-3.18	5.1	5.1	0.69264	.	0.083657	0.51477	D	0.000098	D	0.86020	0.5833	N	0.14661	0.345	0.36635	D	0.876501	B;B;B	0.30361	0.277;0.13;0.181	B;B;B	0.27380	0.079;0.055;0.014	D	0.84996	0.0897	9	.	.	.	.	15.7209	0.77710	0.0:0.0:1.0:0.0	.	384;550;653	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	384;384;653;384;550	ENSP00000346111:E384K;ENSP00000395929:E653K;ENSP00000343209:E384K;ENSP00000354310:E550K	.	E	+	1	0	NSD1	176569963	1.000000	0.71417	0.925000	0.36789	0.759000	0.43091	5.880000	0.69698	2.805000	0.96524	0.655000	0.94253	GAA	NSD1	-	NULL		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637357	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.979	A
NSD1	64324	genome.wustl.edu	37	5	176638806	176638806	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176638806G>A	ENST00000439151.2	+	5	3451	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	NSD1_ENST00000347982.4_Missense_Mutation_p.E867K|NSD1_ENST00000354179.4_Missense_Mutation_p.E867K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1033K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1136					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAAGGCCCAGAGCTGGACTC	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													76.0	81.0	79.0					5																	176638806		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3406G>A	5.37:g.176638806G>A	ENSP00000395929:p.Glu1136Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1136K	ENST00000439151.2	37	c.3406	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281908	0.59758	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93133	-3.06;-3.06;-3.06;-3.17	4.7	3.83	0.44106	.	0.354417	0.24003	N	0.042460	D	0.90521	0.7030	N	0.24115	0.695	0.09310	N	1	P;D;P	0.56035	0.949;0.974;0.956	P;P;P	0.53861	0.6;0.736;0.549	T	0.83121	-0.0118	9	.	.	.	.	10.0588	0.42261	0.0938:0.0:0.9062:0.0	.	867;1033;1136	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	867;1136;867;1033	ENSP00000346111:E867K;ENSP00000395929:E1136K;ENSP00000343209:E867K;ENSP00000354310:E1033K	.	E	+	1	0	NSD1	176571412	0.452000	0.25713	0.062000	0.19696	0.757000	0.42996	2.425000	0.44723	1.347000	0.45714	0.655000	0.94253	GAG	NSD1	-	NULL		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638806	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.203	A
NSD1	64324	genome.wustl.edu	37	5	176638817	176638817	+	Silent	SNP	T	T	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176638817T>A	ENST00000439151.2	+	5	3462	c.3417T>A	c.(3415-3417)tcT>tcA	p.S1139S	NSD1_ENST00000347982.4_Silent_p.S870S|NSD1_ENST00000354179.4_Silent_p.S870S|NSD1_ENST00000361032.4_Silent_p.S1036S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1139					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGCTGGACTCTGTAATGAACA	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													80.0	83.0	82.0					5																	176638817		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3417T>A	5.37:g.176638817T>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1139	ENST00000439151.2	37	c.3417	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	T	NM_172349		176638817	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.995	A
NSD1	64324	genome.wustl.edu	37	5	176638839	176638839	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:176638839G>A	ENST00000439151.2	+	5	3484	c.3439G>A	c.(3439-3441)Gaa>Aaa	p.E1147K	NSD1_ENST00000347982.4_Missense_Mutation_p.E878K|NSD1_ENST00000354179.4_Missense_Mutation_p.E878K|NSD1_ENST00000361032.4_Missense_Mutation_p.E1044K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1147					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAGAATGATGAACTCAATGG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			GRCh37	CM074963	NSD1	M							82.0	84.0	83.0					5																	176638839		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3439G>A	5.37:g.176638839G>A	ENSP00000395929:p.Glu1147Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1147K	ENST00000439151.2	37	c.3439	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640598	0.87859	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94280	-3.29;-3.28;-3.29;-3.39	4.7	4.7	0.59300	.	0.000000	0.53938	D	0.000042	D	0.88883	0.6558	L	0.27053	0.805	0.32496	N	0.539489	P;P;P	0.42827	0.675;0.763;0.791	B;B;B	0.42282	0.367;0.382;0.212	D	0.89715	0.3915	9	.	.	.	.	14.8501	0.70289	0.0:0.0:1.0:0.0	.	878;1044;1147	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	K	878;1147;878;1044	ENSP00000346111:E878K;ENSP00000395929:E1147K;ENSP00000343209:E878K;ENSP00000354310:E1044K	.	E	+	1	0	NSD1	176571445	1.000000	0.71417	0.958000	0.39756	0.977000	0.68977	4.290000	0.59019	2.607000	0.88179	0.655000	0.94253	GAA	NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638839	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.989	A
OIP5	11339	genome.wustl.edu	37	15	41601953	41601953	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:41601953C>T	ENST00000220514.3	-	5	748	c.689G>A	c.(688-690)tGa>tAa	p.*230*		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	0					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGTACAGGATCAGTTTTCTGG	0.418																																																	0													129.0	109.0	116.0					15																	41601953		2203	4300	6503	SO:0001819	synonymous_variant	11339			AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.689G>A	15.37:g.41601953C>T			Q96BX7	Silent	SNP	NULL	p.*230	ENST00000220514.3	37	c.689	CCDS10074.1	15																																																																																			OIP5	-	NULL		0.418	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIP5	HGNC	protein_coding	OTTHUMT00000252576.2	C	NM_007280		41601953	-1	no_errors	ENST00000220514	ensembl	human	known	70_37	silent	SNP	0.270	T
OR7E47P	26628	genome.wustl.edu	37	12	52501798	52501798	+	RNA	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:52501798G>A	ENST00000546390.1	+	0	1197				AC078864.1_ENST00000582209.1_RNA					olfactory receptor, family 7, subfamily E, member 47 pseudogene																		CCTCCATTCTGAGGGTTTCAT	0.423																																																	0																																												219445			X87825		12q13.13	2013-01-23			ENSG00000257542	ENSG00000257542		"""GPCR / Class A : Olfactory receptors"""	8421	pseudogene	pseudogene						8647456	Standard	NR_120439		Approved	OR7E141			OTTHUMG00000169615		12.37:g.52501798G>A				RNA	SNP	-	NULL	ENST00000546390.1	37	NULL		12																																																																																			OR7E5P	-	-		0.423	OR7E47P-002	KNOWN	basic	processed_transcript	OR7E5P	HGNC	pseudogene	OTTHUMT00000405071.1	G	NG_004128		52501798	+1	no_errors	ENST00000546390	ensembl	human	known	70_37	rna	SNP	0.155	A
PADI2	11240	genome.wustl.edu	37	1	17394881	17394881	+	3'UTR	SNP	G	G	A	rs545150156		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:17394881G>A	ENST00000375486.4	-	0	2719				PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II						chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CATCCCACACGTGGGGAAACC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19224	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	11240			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.*658C>T	1.37:g.17394881G>A			Q96DA7|Q9UPN2	RNA	SNP	-	NULL	ENST00000375486.4	37	NULL	CCDS177.1	1																																																																																			PADI2	-	-		0.542	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	G			17394881	-1	no_errors	ENST00000466151	ensembl	human	known	70_37	rna	SNP	0.000	A
PARD3B	117583	genome.wustl.edu	37	2	206166584	206166584	+	Intron	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:206166584G>C	ENST00000406610.2	+	18	2837				PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000462231.1_Missense_Mutation_p.E921Q|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta						cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGCAGAGGCAGAGGAGCTTTT	0.478																																																	0																																										SO:0001627	intron_variant	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2630+159G>C	2.37:g.206166584G>C			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	RNA	SNP	-	NULL	ENST00000406610.2	37	NULL		2																																																																																			PARD3B	-	-		0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206166584	+1	no_errors	ENST00000462231	ensembl	human	known	70_37	rna	SNP	0.001	C
PCDH19	57526	genome.wustl.edu	37	X	99551216	99551216	+	3'UTR	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:99551216G>A	ENST00000373034.4	-	0	5181				PCDH19_ENST00000255531.7_3'UTR|PCDH19_ENST00000464981.1_5'UTR|PCDH19_ENST00000420881.2_3'UTR	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ATTAAAACAAGAAGCTCCTGC	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.*59C>T	X.37:g.99551216G>A			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	RNA	SNP	-	NULL	ENST00000373034.4	37	NULL	CCDS55462.1	X																																																																																			PCDH19	-	-		0.423	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99551216	-1	no_errors	ENST00000464981	ensembl	human	known	70_37	rna	SNP	0.000	A
PCDHGA9	56107	genome.wustl.edu	37	5	140783709	140783709	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:140783709C>T	ENST00000573521.1	+	1	1190	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAATTCAGAAGAAGAT	0.398																																																	0													30.0	30.0	30.0					5																	140783709		1833	4088	5921	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1190C>T	5.37:g.140783709C>T	ENSP00000460274:p.Ser397Leu		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S397L	ENST00000573521.1	37	c.1190	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140783709	+1	no_errors	ENST00000573521	ensembl	human	known	70_37	missense	SNP	0.238	T
PCDHGA9	56107	genome.wustl.edu	37	5	140783879	140783879	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:140783879C>G	ENST00000573521.1	+	1	1360	c.1360C>G	c.(1360-1362)Caa>Gaa	p.Q454E	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	454	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTTCTCTCAAGCCTCCTA	0.493																																																	0													83.0	84.0	83.0					5																	140783879		1986	4175	6161	SO:0001583	missense	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1360C>G	5.37:g.140783879C>G	ENSP00000460274:p.Gln454Glu		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q454E	ENST00000573521.1	37	c.1360	CCDS58981.1	5																																																																																			PCDHGA9	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.493	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140783879	+1	no_errors	ENST00000573521	ensembl	human	known	70_37	missense	SNP	0.015	G
PCNXL3	399909	genome.wustl.edu	37	11	65383829	65383829	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:65383829C>T	ENST00000355703.3	+	1	586	c.47C>T	c.(46-48)tCg>tTg	p.S16L	MAP3K11_ENST00000309100.3_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	16						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTGTGGGCCTCGCTCACCGGC	0.667																																																	0													19.0	27.0	24.0					11																	65383829		2071	4169	6240	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.47C>T	11.37:g.65383829C>T	ENSP00000347931:p.Ser16Leu		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.S16L	ENST00000355703.3	37	c.47	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.276656	0.95459	.	.	ENSG00000197136	ENST00000355703	T	0.61742	0.08	4.11	4.11	0.48088	.	0.000000	0.27323	U	0.019900	T	0.61009	0.2313	M	0.78916	2.43	0.39983	D	0.97494	D	0.57899	0.981	B	0.43508	0.422	T	0.72833	-0.4173	10	0.87932	D	0	.	14.6545	0.68823	0.0:1.0:0.0:0.0	.	16	Q9H6A9	PCX3_HUMAN	L	16	ENSP00000347931:S16L	ENSP00000347931:S16L	S	+	2	0	PCNXL3	65140405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.151000	0.77411	2.575000	0.86900	0.561000	0.74099	TCG	PCNXL3	-	NULL		0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65383829	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	1.000	T
PDLIM2	64236	genome.wustl.edu	37	8	22447189	22447189	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:22447189G>A	ENST00000397760.4	+	8	1098	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	PDLIM2_ENST00000409141.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000265810.4_Missense_Mutation_p.R233Q|PDLIM2_ENST00000409417.1_Missense_Mutation_p.R233Q|PDLIM2_ENST00000339162.7_Missense_Mutation_p.R233Q|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000308354.7_Missense_Mutation_p.R483Q|AC037459.4_ENST00000430850.2_Missense_Mutation_p.R27Q|PDLIM2_ENST00000397761.2_Missense_Mutation_p.R233Q			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	233						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CGCGAGGGACGGGCGGCCCCC	0.657																																																	0													19.0	20.0	20.0					8																	22447189		2199	4290	6489	SO:0001583	missense	64236			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.698G>A	8.37:g.22447189G>A	ENSP00000380867:p.Arg233Gln		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R483Q	ENST00000397760.4	37	c.1448		8	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171921	0.57584	.	.	ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000120913;ENSG00000248235;ENSG00000248235	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000409141;ENST00000265810;ENST00000409417;ENST00000450780;ENST00000430850	T;T;T;T;T;T;T;T;T;T	0.30182	1.74;3.54;2.6;2.6;2.6;2.6;2.6;2.67;2.6;1.54	5.16	3.34	0.38264	.	0.073529	0.56097	D	0.000037	T	0.16514	0.0397	L	0.41824	1.3	0.32131	N	0.586729	B;P;B;B	0.42357	0.41;0.777;0.168;0.059	B;B;B;B	0.26517	0.017;0.07;0.023;0.01	T	0.19353	-1.0308	10	0.13470	T	0.59	-22.2844	10.3648	0.44017	0.1643:0.0:0.8357:0.0	.	27;233;233;233	B3KPU0;Q96JY6-3;Q96JY6-4;Q96JY6	.;.;.;PDLI2_HUMAN	Q	233;483;233;233;233;233;233;233;233;61;27	ENSP00000401992:R233Q;ENSP00000312634:R483Q;ENSP00000394376:R233Q;ENSP00000380867:R233Q;ENSP00000342035:R233Q;ENSP00000380868:R233Q;ENSP00000386868:R233Q;ENSP00000265810:R233Q;ENSP00000387084:R233Q;ENSP00000428700:R27Q	ENSP00000428700:R27Q	R	+	2	0	AC037459.4;PDLIM2	22503134	0.654000	0.27367	0.440000	0.26846	0.543000	0.35085	3.285000	0.51716	1.319000	0.45190	0.558000	0.71614	CGG	PDLIM2	-	NULL		0.657	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	G			22447189	+1	no_errors	ENST00000308354	ensembl	human	known	70_37	missense	SNP	0.797	A
PHOSPHO1	162466	genome.wustl.edu	37	17	47302015	47302015	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:47302015G>A	ENST00000310544.4	-	3	524	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	PHOSPHO1_ENST00000514112.1_Silent_p.L158L|PHOSPHO1_ENST00000413580.1_Silent_p.L158L			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	133					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GCGGCGCGCAGCGAGCTCTCC	0.662																																																	0													15.0	16.0	16.0					17																	47302015		2190	4291	6481	SO:0001819	synonymous_variant	162466			AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.397C>T	17.37:g.47302015G>A			E9PAM0|Q17RU6	Silent	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.L158	ENST00000310544.4	37	c.472	CCDS11547.1	17																																																																																			PHOSPHO1	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like		0.662	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO1	HGNC	protein_coding	OTTHUMT00000364467.2	G			47302015	-1	no_errors	ENST00000413580	ensembl	human	known	70_37	silent	SNP	0.981	A
PIK3CA	5290	genome.wustl.edu	37	3	178916890	178916890	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:178916890C>T	ENST00000263967.3	+	2	434	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	93	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				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.R93W(9)		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)	TTGTGACCTTCGGCTTTTTCA	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	9	Substitution - Missense(9)	endometrium(6)|large_intestine(3)											104.0	99.0	101.0					3																	178916890		1819	4077	5896	SO:0001583	missense	5290				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.277C>T	3.37:g.178916890C>T	ENSP00000263967:p.Arg93Trp		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.R93W	ENST00000263967.3	37	c.277	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059537	0.76074	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76968	-1.06;-1.06	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.73962	2.25	0.80722	D	1	P	0.50710	0.938	B	0.43251	0.413	T	0.81484	-0.0912	9	.	.	.	-9.1625	19.4272	0.94746	0.0:1.0:0.0:0.0	.	93	P42336	PK3CA_HUMAN	W	93	ENSP00000263967:R93W;ENSP00000417479:R93W	.	R	+	1	2	PIK3CA	180399584	0.650000	0.27331	1.000000	0.80357	0.998000	0.95712	0.910000	0.28571	2.584000	0.87258	0.555000	0.69702	CGG	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	C			178916890	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	T
PIR	8544	genome.wustl.edu	37	X	15408179	15408179	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:15408179C>T	ENST00000380421.3	-	9	1221				PIR_ENST00000380420.5_Intron	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)						monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					ATTAAACAATCCTCAGATTTA	0.289																																					Ovarian(180;1587 2015 10555 34192 51653)												0																																										SO:0001627	intron_variant	8544			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.760+127G>A	X.37:g.15408179C>T			Q5U0G0|Q6FHD2	RNA	SNP	-	NULL	ENST00000380421.3	37	NULL	CCDS14167.1	X																																																																																			PIR	-	-		0.289	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	C	NM_003662		15408179	-1	no_errors	ENST00000484433	ensembl	human	known	70_37	rna	SNP	0.086	T
PLCD3	113026	genome.wustl.edu	37	17	43198400	43198400	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:43198400G>A	ENST00000322765.5	-	3	536	c.423C>T	c.(421-423)atC>atT	p.I141I	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	141	PH.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCTTGAAGGCGATGGTGAGGC	0.731																																																	0													3.0	5.0	4.0					17																	43198400		1721	3679	5400	SO:0001819	synonymous_variant	113026			AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.423C>T	17.37:g.43198400G>A			Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.I141	ENST00000322765.5	37	c.423		17																																																																																			PLCD3	-	smart_Pleckstrin_homology		0.731	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	PLCD3	HGNC	protein_coding		G	NM_133373		43198400	-1	no_errors	ENST00000322765	ensembl	human	known	70_37	silent	SNP	1.000	A
PLEKHA6	22874	genome.wustl.edu	37	1	204214745	204214745	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:204214745C>T	ENST00000272203.3	-	14	2346	c.2030G>A	c.(2029-2031)aGa>aAa	p.R677K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R697K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	677										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCACCCACCTCTGTGCTTGGC	0.607																																																	0													85.0	75.0	79.0					1																	204214745		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2030G>A	1.37:g.204214745C>T	ENSP00000272203:p.Arg677Lys		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R677K	ENST00000272203.3	37	c.2030	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738876	0.49045	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.30981	1.51;1.51	5.13	5.13	0.70059	.	0.871120	0.10228	N	0.700107	T	0.32164	0.0820	L	0.60455	1.87	0.45452	D	0.998426	B	0.23377	0.084	B	0.21360	0.034	T	0.35968	-0.9767	10	0.05721	T	0.95	-3.2304	18.1807	0.89777	0.0:1.0:0.0:0.0	.	677	Q9Y2H5	PKHA6_HUMAN	K	677;697	ENSP00000272203:R677K;ENSP00000402046:R697K	ENSP00000272203:R677K	R	-	2	0	PLEKHA6	202481368	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.387000	0.52501	2.406000	0.81754	0.563000	0.77884	AGA	PLEKHA6	-	NULL		0.607	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	C	NM_014935		204214745	-1	no_errors	ENST00000272203	ensembl	human	known	70_37	missense	SNP	1.000	T
PLIN5	440503	genome.wustl.edu	37	19	4525653	4525653	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:4525653G>A	ENST00000381848.3	-	6	792	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	238	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ACCAGCTCCAGCGTCTCCTGC	0.632																																																	0													40.0	49.0	46.0					19																	4525653		2080	4201	6281	SO:0001819	synonymous_variant	440503			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.712C>T	19.37:g.4525653G>A			A2RRC1|Q6ZS68	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L238	ENST00000381848.3	37	c.712	CCDS42473.1	19																																																																																			PLIN5	-	pfam_Perilipin,pirsf_Perilipin		0.632	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	G	NM_001013706		4525653	-1	no_errors	ENST00000381848	ensembl	human	known	70_37	silent	SNP	0.901	A
POU4F2	5458	genome.wustl.edu	37	4	147560492	147560492	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:147560492G>A	ENST00000281321.3	+	1	448	c.200G>A	c.(199-201)gGa>gAa	p.G67E	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	67	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ggcggcggcggaggccgaagc	0.751																																																	0													5.0	7.0	6.0					4																	147560492		1818	3658	5476	SO:0001583	missense	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.200G>A	4.37:g.147560492G>A	ENSP00000281321:p.Gly67Glu		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.G67E	ENST00000281321.3	37	c.200	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853968	0.51270	.	.	ENSG00000151615	ENST00000281321	D	0.91464	-2.85	5.21	4.37	0.52481	.	0.666453	0.12352	U	0.476429	T	0.81749	0.4888	N	0.08118	0	0.19945	N	0.999942	B	0.32010	0.351	B	0.35278	0.199	T	0.70706	-0.4798	10	0.29301	T	0.29	.	11.4971	0.50415	0.0876:0.0:0.9124:0.0	.	67	Q12837	PO4F2_HUMAN	E	67	ENSP00000281321:G67E	ENSP00000281321:G67E	G	+	2	0	POU4F2	147779942	0.453000	0.25721	0.970000	0.41538	0.849000	0.48306	2.022000	0.41030	1.191000	0.43056	0.561000	0.74099	GGA	POU4F2	-	NULL		0.751	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	G	NM_004575		147560492	+1	no_errors	ENST00000281321	ensembl	human	known	70_37	missense	SNP	0.974	A
PPP4R4	57718	genome.wustl.edu	37	14	94718190	94718190	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:94718190C>G	ENST00000304338.3	+	16	1976	c.1822C>G	c.(1822-1824)Cta>Gta	p.L608V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	608					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATATTTCTTTCTACCTGCTAT	0.294																																																	0													42.0	45.0	44.0					14																	94718190		2202	4281	6483	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1822C>G	14.37:g.94718190C>G	ENSP00000305924:p.Leu608Val		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L608V	ENST00000304338.3	37	c.1822	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	6.763	0.509698	0.12883	.	.	ENSG00000119698	ENST00000304338	T	0.31247	1.5	5.72	1.83	0.25207	Armadillo-like helical (1);Armadillo-type fold (1);	0.211578	0.41194	D	0.000925	T	0.25044	0.0608	L	0.57536	1.79	0.80722	D	1	B	0.34103	0.437	B	0.30105	0.111	T	0.04178	-1.0971	10	0.24483	T	0.36	-9.9365	10.1321	0.42685	0.0:0.605:0.0:0.395	.	608	Q6NUP7	PP4R4_HUMAN	V	608	ENSP00000305924:L608V	ENSP00000305924:L608V	L	+	1	2	PPP4R4	93787943	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.031000	0.30165	0.349000	0.23975	0.462000	0.41574	CTA	PPP4R4	-	superfamily_ARM-type_fold		0.294	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	C	NM_058237		94718190	+1	no_errors	ENST00000304338	ensembl	human	known	70_37	missense	SNP	0.993	G
PPP2R5C	5527	genome.wustl.edu	37	14	102391583	102391583	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:102391583G>A	ENST00000334743.5	+	14	1597	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E533K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E548K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E478K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	517					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGGGCCGATGAGCTGGCCTC	0.627																																																	0													44.0	51.0	49.0					14																	102391583		2203	4300	6503	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1549G>A	14.37:g.102391583G>A	ENSP00000333905:p.Glu517Lys		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E548K	ENST00000334743.5	37	c.1642	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148812	0.78001	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.52295	0.69;0.68;0.69;0.67;0.69	6.17	3.31	0.37934	.	0.234215	0.50627	D	0.000116	T	0.56062	0.1960	M	0.77820	2.39	0.45150	D	0.998161	P;P;B;B	0.38250	0.624;0.538;0.151;0.311	P;B;B;B	0.44772	0.46;0.366;0.089;0.097	T	0.56523	-0.7965	10	0.46703	T	0.11	-4.5699	13.1917	0.59715	0.0:0.2296:0.6508:0.1195	.	548;478;517;533	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	K	548;533;546;478;517	ENSP00000412324:E548K;ENSP00000329009:E533K;ENSP00000450931:E546K;ENSP00000262239:E478K;ENSP00000333905:E517K	ENSP00000329009:E533K	E	+	1	0	PPP2R5C	101461336	1.000000	0.71417	0.093000	0.20910	0.954000	0.61252	4.910000	0.63321	0.442000	0.26555	0.655000	0.94253	GAG	PPP2R5C	-	NULL		0.627	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	G	NM_002719		102391583	+1	no_errors	ENST00000422945	ensembl	human	known	70_37	missense	SNP	0.997	A
PPRC1	23082	genome.wustl.edu	37	10	103908292	103908292	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:103908292C>T	ENST00000278070.2	+	10	4589				PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCATGTGTTCAGGGAGCGCC	0.562																																																	0													117.0	114.0	115.0					10																	103908292		2203	4300	6503	SO:0001627	intron_variant	23082			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4550+14C>T	10.37:g.103908292C>T			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	RNA	SNP	-	NULL	ENST00000278070.2	37	NULL	CCDS7529.1	10																																																																																			PPRC1	-	-		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	C	NM_015062		103908292	+1	no_errors	ENST00000495914	ensembl	human	known	70_37	rna	SNP	0.000	T
PRDX6	9588	genome.wustl.edu	37	1	173455459	173455459	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:173455459G>A	ENST00000340385.5	+	4	597	c.465G>A	c.(463-465)agG>agA	p.R155R	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	155	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCACTGGCAGGAACTTTGATG	0.438																																																	0													155.0	162.0	160.0					1																	173455459		2203	4300	6503	SO:0001819	synonymous_variant	9588			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.465G>A	1.37:g.173455459G>A			A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Silent	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.R155	ENST00000340385.5	37	c.465	CCDS1307.1	1																																																																																			PRDX6	-	superfamily_Thioredoxin-like_fold		0.438	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX6	HGNC	protein_coding	OTTHUMT00000084222.1	G	NM_004905		173455459	+1	no_errors	ENST00000340385	ensembl	human	known	70_37	silent	SNP	0.956	A
PRL	5617	genome.wustl.edu	37	6	22287684	22287684	+	Missense_Mutation	SNP	C	C	T	rs148157654		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:22287684C>T	ENST00000306482.1	-	5	1149	c.631G>A	c.(631-633)Gac>Aac	p.D211N	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	211					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AGATAATTGTCGATTTTATGT	0.463																																																	0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	263.0	233.0	243.0		631,631	4.8	0.9	6	dbSNP_134	243	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PRL	NM_000948.5,NM_001163558.2	23,23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	211/228,211/228	22287684	2,13004	2203	4300	6503	SO:0001583	missense	5617			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.631G>A	6.37:g.22287684C>T	ENSP00000302150:p.Asp211Asn		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.D211N	ENST00000306482.1	37	c.631	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650904	0.87958	0.0	2.33E-4	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.91464	-2.85	5.66	4.8	0.61643	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.040721	0.85682	N	0.000000	D	0.94938	0.8363	M	0.87180	2.865	0.80722	D	1	P;D	0.89917	0.882;1.0	P;D	0.91635	0.856;0.999	D	0.95790	0.8824	10	0.72032	D	0.01	-18.4203	14.7885	0.69821	0.0:0.9309:0.0:0.0691	.	211;212	P01236;Q5I0G2	PRL_HUMAN;.	N	211;180	ENSP00000302150:D211N	ENSP00000302150:D211N	D	-	1	0	PRL	22395663	0.998000	0.40836	0.919000	0.36401	0.991000	0.79684	2.825000	0.48096	1.539000	0.49286	0.655000	0.94253	GAC	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin		0.463	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	C	NM_000948		22287684	-1	no_errors	ENST00000306482	ensembl	human	known	70_37	missense	SNP	0.997	T
PRRC2B	84726	genome.wustl.edu	37	9	134322565	134322565	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:134322565A>T	ENST00000357304.4	+	7	1004	c.949A>T	c.(949-951)Aga>Tga	p.R317*	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.R317*|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.R317*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	317							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGTTCCTTTTAGACAGTTCCA	0.507																																																	0													101.0	96.0	98.0					9																	134322565		1987	4174	6161	SO:0001587	stop_gained	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.949A>T	9.37:g.134322565A>T	ENSP00000349856:p.Arg317*		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Nonsense_Mutation	SNP	pfam_BAT2_N	p.R317*	ENST00000357304.4	37	c.949	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	A	37	6.507415	0.97624	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	.	.	.	5.54	3.09	0.35607	.	0.000000	0.45606	U	0.000345	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-11.8453	12.0345	0.53417	0.5761:0.4239:0.0:0.0	.	.	.	.	X	317	.	ENSP00000349856:R317X	R	+	1	2	PRRC2B	133312386	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.278000	0.43426	0.426000	0.26116	0.460000	0.39030	AGA	PRRC2B	-	NULL		0.507	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		A			134322565	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PTPRS	5802	genome.wustl.edu	37	19	5231417	5231417	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:5231417C>G	ENST00000587303.1	-	13	2158	c.2059G>C	c.(2059-2061)Gag>Cag	p.E687Q	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.E674Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E687Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E674Q|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000372412.4_Missense_Mutation_p.E688Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.E683Q|PTPRS_ENST00000353284.2_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	687	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCCACTTCTCCAAGGCCTCC	0.652																																																	0													64.0	53.0	57.0					19																	5231417		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2059G>C	19.37:g.5231417C>G	ENSP00000467537:p.Glu687Gln		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.E688Q	ENST00000587303.1	37	c.2062	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	c	11.60	1.686159	0.29962	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	3.88	2.83	0.33086	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.170023	0.36628	U	0.002491	T	0.50973	0.1647	L	0.41415	1.275	0.80722	D	1	P;P	0.41420	0.749;0.733	B;P	0.50537	0.288;0.643	T	0.35968	-0.9767	10	0.20519	T	0.43	.	11.5753	0.50858	0.0:0.9107:0.0:0.0893	.	674;687	Q13332-6;Q13332	.;PTPRS_HUMAN	Q	688;687;687;687;683;674	ENSP00000361489:E688Q;ENSP00000349932:E687Q;ENSP00000262963:E683Q;ENSP00000269907:E674Q	ENSP00000262963:E683Q	E	-	1	0	PTPRS	5182417	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	5.479000	0.66813	0.832000	0.34804	-0.309000	0.09137	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.652	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	C			5231417	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	missense	SNP	1.000	G
PSG5	5673	genome.wustl.edu	37	19	43688967	43688967	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:43688967C>T	ENST00000366175.3	-	2	527	c.397G>A	c.(397-399)Gga>Aga	p.G133R	PSG5_ENST00000342951.6_Missense_Mutation_p.G133R|PSG5_ENST00000599812.1_Missense_Mutation_p.G133R|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.G133R|PSG5_ENST00000404580.1_Missense_Mutation_p.G133R|PSG5_ENST00000407356.1_Missense_Mutation_p.G133R			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	133	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCAGTTACTCCTCTAGTCCTA	0.473																																																	0													307.0	275.0	286.0					19																	43688967		2203	4295	6498	SO:0001583	missense	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.397G>A	19.37:g.43688967C>T	ENSP00000382334:p.Gly133Arg		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G133R	ENST00000366175.3	37	c.397	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	N	0.889	-0.726266	0.03158	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01629	4.72;4.72;4.72;4.72;4.72	1.58	-3.15	0.05233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.24092	0.022;0.097;0.003;0.01	B;B;B;B	0.33254	0.125;0.16;0.035;0.068	T	0.48198	-0.9056	9	0.07175	T	0.84	.	3.5162	0.07726	0.0:0.3366:0.2066:0.4567	.	133;133;133;133	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	R	133	ENSP00000382334:G133R;ENSP00000386008:G133R;ENSP00000386053:G133R;ENSP00000344413:G133R;ENSP00000385250:G133R	ENSP00000344413:G133R	G	-	1	0	PSG5	48380807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.343000	0.01099	-1.429000	0.01987	0.423000	0.28283	GGA	PSG5	-	smart_Ig_sub		0.473	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	HGNC	protein_coding	OTTHUMT00000323055.1	C	NM_002781		43688967	-1	no_errors	ENST00000342951	ensembl	human	known	70_37	missense	SNP	0.000	T
PXDC1	221749	genome.wustl.edu	37	6	3738335	3738335	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:3738335C>T	ENST00000380283.4	-	2	798	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	102	PX.						phosphatidylinositol binding (GO:0035091)										TTCTCCACCTCATTAAGCCTG	0.552																																																	0													282.0	248.0	259.0					6																	3738335		2203	4300	6503	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.304G>A	6.37:g.3738335C>T	ENSP00000369636:p.Glu102Lys		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox	p.E102K	ENST00000380283.4	37	c.304	CCDS4486.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604172|4.604172	0.87157|0.87157	.|.	.|.	ENSG00000168994|ENSG00000168994	ENST00000380283|ENST00000380277	T|.	0.39229|.	1.09|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Phox homologous domain (3);|.	0.046027|.	0.85682|.	D|.	0.000000|.	T|T	0.67268|0.67268	0.2875|0.2875	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.66756|0.66756	-0.5843|-0.5843	10|5	0.44086|.	T|.	0.13|.	-29.8195|-29.8195	17.375|17.375	0.87390|0.87390	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	102|.	Q5TGL8|.	CF145_HUMAN|.	K|I	102|49	ENSP00000369636:E102K|.	ENSP00000369636:E102K|.	E|M	-|-	1|3	0|0	C6orf145|C6orf145	3683334|3683334	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.537000|0.537000	0.34900|0.34900	6.599000|6.599000	0.74127|0.74127	2.406000|2.406000	0.81754|0.81754	0.555000|0.555000	0.69702|0.69702	GAG|ATG	PXDC1	-	pfam_Phox,superfamily_Phox		0.552	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDC1	HGNC	protein_coding	OTTHUMT00000039688.1	C	NM_183373		3738335	-1	no_errors	ENST00000380283	ensembl	human	known	70_37	missense	SNP	1.000	T
PYHIN1	149628	genome.wustl.edu	37	1	158908876	158908876	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:158908876A>C	ENST00000368140.1	+	4	663	c.418A>C	c.(418-420)Aaa>Caa	p.K140Q	PYHIN1_ENST00000392252.3_Missense_Mutation_p.K131Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K131Q|PYHIN1_ENST00000368135.4_Missense_Mutation_p.K140Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K140Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	140					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTAGAAAAGAAAAAAACCATC	0.373																																																	0													41.0	42.0	42.0					1																	158908876		2203	4300	6503	SO:0001583	missense	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.418A>C	1.37:g.158908876A>C	ENSP00000357122:p.Lys140Gln		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K140Q	ENST00000368140.1	37	c.418	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	A	8.409	0.843733	0.16963	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.37752	1.18;3.11;3.33;3.14;3.33;1.3	2.27	-0.12	0.13539	.	.	.	.	.	T	0.29126	0.0724	M	0.66939	2.045	0.09310	N	1	P;P;D;P;B	0.55800	0.889;0.484;0.973;0.954;0.241	P;B;P;P;B	0.56823	0.603;0.223;0.807;0.646;0.147	T	0.08513	-1.0718	9	0.72032	D	0.01	.	4.3748	0.11265	0.6545:0.0:0.3455:0.0	.	131;140;131;140;140	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	Q	140;140;131;140;131;140	ENSP00000407616:K140Q;ENSP00000357122:K140Q;ENSP00000357120:K131Q;ENSP00000376083:K140Q;ENSP00000376082:K131Q;ENSP00000357117:K140Q	ENSP00000357117:K140Q	K	+	1	0	PYHIN1	157175500	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.450000	0.21762	-0.050000	0.13356	-0.385000	0.06624	AAA	PYHIN1	-	NULL		0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	A	NM_152501		158908876	+1	no_errors	ENST00000368140	ensembl	human	known	70_37	missense	SNP	0.002	C
RAB40AL	282808	genome.wustl.edu	37	X	102192462	102192462	+	Silent	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:102192462G>C	ENST00000218249.5	+	1	263	c.216G>C	c.(214-216)ggG>ggC	p.G72G	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	72					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ATACGTCGGGGCAGGGAAGAT	0.572																																																	0													69.0	70.0	70.0					X																	102192462		2203	4297	6500	SO:0001819	synonymous_variant	282808			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.216G>C	X.37:g.102192462G>C			Q495H3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G72	ENST00000218249.5	37	c.216	CCDS35353.1	X																																																																																			RAB40AL	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.572	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40AL	HGNC	protein_coding	OTTHUMT00000057679.1	G	NM_001031834		102192462	+1	no_errors	ENST00000218249	ensembl	human	known	70_37	silent	SNP	0.998	C
RALGPS1	9649	genome.wustl.edu	37	9	129728136	129728136	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:129728136C>T	ENST00000259351.5	+	3	338	c.71C>T	c.(70-72)tCg>tTg	p.S24L	RALGPS1_ENST00000424082.2_Missense_Mutation_p.S24L|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S24L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S24L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S24L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	24	Poly-Ser.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGCAGCAGCTCGGACTCTCTG	0.532																																																	0													84.0	81.0	82.0					9																	129728136		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.71C>T	9.37:g.129728136C>T	ENSP00000259351:p.Ser24Leu		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.S24L	ENST00000259351.5	37	c.71	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778406	0.70107	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000394011;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.55	5.55	0.83447	Ras guanine nucleotide exchange factor, domain (1);	0.410909	0.21739	N	0.069846	T	0.43366	0.1244	L	0.55481	1.735	0.54753	D	0.999987	D;D;D;D	0.67145	0.985;0.996;0.991;0.957	B;P;P;B	0.51945	0.265;0.685;0.452;0.17	T	0.15636	-1.0430	10	0.40728	T	0.16	.	18.2758	0.90083	0.0:1.0:0.0:0.0	.	24;24;24;24	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	24	ENSP00000259351:S24L;ENSP00000415630:S24L;ENSP00000377590:S24L;ENSP00000377579:S24L;ENSP00000317149:S24L;ENSP00000362535:S24L;ENSP00000362533:S24L	ENSP00000259351:S24L	S	+	2	0	RALGPS1	128767957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.093000	0.64517	2.607000	0.88179	0.561000	0.74099	TCG	RALGPS1	-	superfamily_Ras_GEF_dom		0.532	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	C	NM_014636		129728136	+1	no_errors	ENST00000259351	ensembl	human	known	70_37	missense	SNP	1.000	T
RALYL	138046	genome.wustl.edu	37	8	85762241	85762241	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:85762241A>G	ENST00000521268.1	+	5	1497	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	RALYL_ENST00000523850.1_Missense_Mutation_p.Y58C|RALYL_ENST00000521695.1_Missense_Mutation_p.Y131C|RALYL_ENST00000522455.1_Missense_Mutation_p.Y131C|RALYL_ENST00000518566.1_Missense_Mutation_p.Y120C|RALYL_ENST00000517638.1_Missense_Mutation_p.Y144C|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	131							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TATGATTACTACAGAGATGAT	0.279																																																	0													104.0	93.0	97.0					8																	85762241		1787	4044	5831	SO:0001583	missense	138046				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.392A>G	8.37:g.85762241A>G	ENSP00000430367:p.Tyr131Cys		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.Y131C	ENST00000521268.1	37	c.392	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	A	19.26	3.794209	0.70452	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.23348	2.62;2.62;2.62;2.72;2.63;1.91	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.94;0.969;0.999;0.96;0.969	T	0.48281	-0.9049	10	0.66056	D	0.02	-4.3857	13.7067	0.62644	1.0:0.0:0.0:0.0	.	120;131;58;144;131	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	131;131;131;120;144;58	ENSP00000430394:Y131C;ENSP00000428667:Y131C;ENSP00000430367:Y131C;ENSP00000430065:Y120C;ENSP00000430128:Y144C;ENSP00000428807:Y58C	ENSP00000430128:Y144C	Y	+	2	0	RALYL	85924796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.965000	0.70387	2.070000	0.61991	0.523000	0.50628	TAC	RALYL	-	pirsf_hnRNP_C_Raly		0.279	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	A			85762241	+1	no_errors	ENST00000521268	ensembl	human	known	70_37	missense	SNP	1.000	G
RBFOX1	54715	genome.wustl.edu	37	16	7657297	7657297	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:7657297G>C	ENST00000550418.1	+	10	1621	c.633G>C	c.(631-633)ttG>ttC	p.L211F	RBFOX1_ENST00000553186.1_Missense_Mutation_p.L211F|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L216F|RBFOX1_ENST00000436368.2_Missense_Mutation_p.L231F|RBFOX1_ENST00000547372.1_Missense_Mutation_p.L254F|RBFOX1_ENST00000552089.1_Missense_Mutation_p.L228F|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L231F|RBFOX1_ENST00000422070.4_Missense_Mutation_p.L254F|RBFOX1_ENST00000355637.4_Missense_Mutation_p.L231F|RBFOX1_ENST00000535565.2_Missense_Mutation_p.L168F|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L211F	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	211					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCTGGAAATTGAATCCAGTTG	0.348																																					Ovarian(157;934 2567 15163 39509)												0													187.0	171.0	176.0					16																	7657297		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.633G>C	16.37:g.7657297G>C	ENSP00000450031:p.Leu211Phe		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.L254F	ENST00000550418.1	37	c.762	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765733	0.69878	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.37584	1.71;1.19;1.65;1.47;1.48;1.61;1.19;1.29;1.45;1.45;1.2	5.59	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.49778	1.585	0.48830	D	0.999712	P;D;D;D;P;D;P;D;P	0.89917	0.946;1.0;0.967;0.999;0.917;0.999;0.949;0.991;0.746	P;D;P;D;P;D;P;D;P	0.87578	0.691;0.998;0.701;0.977;0.793;0.994;0.807;0.944;0.661	T	0.44682	-0.9312	10	0.39692	T	0.17	-6.6458	9.6906	0.40125	0.1708:0.0:0.8292:0.0	.	231;168;254;231;231;231;211;211;254	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	F	210;211;211;254;254;168;228;211;211;231;231;231;231;216	ENSP00000450402:L210F;ENSP00000450031:L211F;ENSP00000447753:L211F;ENSP00000446842:L254F;ENSP00000391269:L254F;ENSP00000447281:L211F;ENSP00000447717:L211F;ENSP00000402745:L231F;ENSP00000309117:L231F;ENSP00000347855:L231F;ENSP00000344196:L216F	ENSP00000309117:L231F	L	+	3	2	RBFOX1	7597298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.270000	0.51600	1.345000	0.45676	0.650000	0.86243	TTG	RBFOX1	-	pirsf_RNA-bd_Fox-1		0.348	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		7657297	+1	no_errors	ENST00000547372	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM12	10137	genome.wustl.edu	37	20	34241792	34241792	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:34241792T>G	ENST00000374114.3	-	3	1716	c.1453A>C	c.(1453-1455)Aag>Cag	p.K485Q	CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.K485Q|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.K485Q|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	485	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGAGCAGCCTTATAGTCAGCC	0.388											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													117.0	121.0	120.0					20																	34241792		2203	4300	6503	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1453A>C	20.37:g.34241792T>G	ENSP00000363228:p.Lys485Gln	846	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K485Q	ENST00000374114.3	37	c.1453	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319283	0.41096	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.06849	3.25;3.25;3.25	4.7	4.7	0.59300	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.33293	1	0.80722	D	1	D	0.61080	0.989	D	0.76071	0.987	T	0.12993	-1.0526	10	0.12766	T	0.61	-6.9905	14.3486	0.66685	0.0:0.0:0.0:1.0	.	485	Q9NTZ6	RBM12_HUMAN	Q	485;485;485;284	ENSP00000363228:K485Q;ENSP00000352668:K485Q;ENSP00000363217:K485Q	ENSP00000339879:K284Q	K	-	1	0	RBM12	33705206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.681000	0.68175	1.975000	0.57531	0.454000	0.30748	AAG	RBM12	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.388	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	T	NM_006047		34241792	-1	no_errors	ENST00000359646	ensembl	human	known	70_37	missense	SNP	1.000	G
RBM14	10432	genome.wustl.edu	37	11	66392285	66392285	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:66392285C>T	ENST00000310137.4	+	2	1077	c.938C>T	c.(937-939)tCg>tTg	p.S313L	RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	313	Ala-rich.|TRBP-interacting domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCTCAGCCTCGGCCCTTTCC	0.617																																																	0													50.0	50.0	50.0					11																	66392285		2200	4295	6495	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.938C>T	11.37:g.66392285C>T	ENSP00000311747:p.Ser313Leu		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S313L	ENST00000310137.4	37	c.938	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846357	0.51164	.	.	ENSG00000239306	ENST00000310137	D	0.82081	-1.57	4.81	4.81	0.61882	.	0.331496	0.29362	N	0.012369	T	0.81992	0.4940	L	0.27053	0.805	0.80722	D	1	D	0.58620	0.983	P	0.61201	0.885	T	0.81364	-0.0966	10	0.48119	T	0.1	-3.7294	8.9002	0.35490	0.0:0.9006:0.0:0.0994	.	313	Q96PK6	RBM14_HUMAN	L	313	ENSP00000311747:S313L	ENSP00000311747:S313L	S	+	2	0	RBM14	66148861	0.995000	0.38212	0.976000	0.42696	0.943000	0.58893	3.188000	0.50958	2.472000	0.83506	0.563000	0.77884	TCG	RBM14	-	NULL		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66392285	+1	no_errors	ENST00000310137	ensembl	human	known	70_37	missense	SNP	0.984	T
RBM14	10432	genome.wustl.edu	37	11	66392783	66392783	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:66392783C>T	ENST00000310137.4	+	2	1575	c.1436C>T	c.(1435-1437)tCa>tTa	p.S479L	RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	479	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCCAAGCATCAATGGGCCTT	0.647																																																	0													71.0	79.0	77.0					11																	66392783		2200	4295	6495	SO:0001583	missense	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1436C>T	11.37:g.66392783C>T	ENSP00000311747:p.Ser479Leu		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S479L	ENST00000310137.4	37	c.1436	CCDS8147.1	11	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250559	0.39797	.	.	ENSG00000239306	ENST00000310137	D	0.84223	-1.82	5.75	5.75	0.90469	.	0.212824	0.40385	N	0.001110	T	0.73705	0.3621	N	0.08118	0	0.80722	D	1	B	0.19331	0.035	B	0.17433	0.018	T	0.71217	-0.4658	10	0.87932	D	0	-4.3079	15.4418	0.75190	0.0:1.0:0.0:0.0	.	479	Q96PK6	RBM14_HUMAN	L	479	ENSP00000311747:S479L	ENSP00000311747:S479L	S	+	2	0	RBM14	66149359	0.928000	0.31464	0.997000	0.53966	0.957000	0.61999	3.629000	0.54266	2.720000	0.93068	0.655000	0.94253	TCA	RBM14	-	NULL		0.647	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66392783	+1	no_errors	ENST00000310137	ensembl	human	known	70_37	missense	SNP	0.994	T
RFC5	5985	genome.wustl.edu	37	12	118454660	118454660	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:118454660G>A	ENST00000454402.2	+	1	146	c.28G>A	c.(28-30)Gag>Aag	p.E10K	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	10					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGCAGCAGGAGCAGCCCGC	0.701																																																	0													24.0	25.0	25.0					12																	118454660		2196	4298	6494	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.28G>A	12.37:g.118454660G>A	ENSP00000408295:p.Glu10Lys		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.E10K	ENST00000454402.2	37	c.28	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228043	0.22542	.	.	ENSG00000111445	ENST00000454402	T	0.13901	2.55	4.05	2.17	0.27698	.	0.977578	0.08358	N	0.958171	T	0.07098	0.0180	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.26916	-1.0089	10	0.06236	T	0.91	17.0228	12.1044	0.53803	0.0:0.4806:0.5194:0.0	.	24;10	Q59GW7;P40937	.;RFC5_HUMAN	K	10	ENSP00000408295:E10K	ENSP00000408295:E10K	E	+	1	0	RFC5	116939043	0.997000	0.39634	0.679000	0.29978	0.217000	0.24651	0.963000	0.29293	0.458000	0.26988	-0.304000	0.09214	GAG	RFC5	-	NULL		0.701	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	G	NM_007370		118454660	+1	no_errors	ENST00000454402	ensembl	human	known	70_37	missense	SNP	0.920	A
RFC5	5985	genome.wustl.edu	37	12	118454686	118454686	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:118454686G>A	ENST00000454402.2	+	1	172	c.54G>A	c.(52-54)agG>agA	p.R18R	RFC5_ENST00000392542.2_5'UTR|RFC5_ENST00000229043.3_5'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	18					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAAGATCAGGAACCTGCCCT	0.711																																																	0													23.0	23.0	23.0					12																	118454686		2196	4298	6494	SO:0001819	synonymous_variant	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.54G>A	12.37:g.118454686G>A			A8MZ62|B3KSX8	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.R18	ENST00000454402.2	37	c.54	CCDS9185.1	12																																																																																			RFC5	-	pfam_DUF815		0.711	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	G	NM_007370		118454686	+1	no_errors	ENST00000454402	ensembl	human	known	70_37	silent	SNP	0.997	A
ROR2	4920	genome.wustl.edu	37	9	94538029	94538029	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:94538029G>A	ENST00000375708.3	-	2	367	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	57	Ig-like C2-type.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCTTTCAGAGTTGGAATC	0.552											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	69.0	74.0					9																	94538029		2203	4300	6503	SO:0001819	synonymous_variant	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.169C>T	9.37:g.94538029G>A		1306	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L57	ENST00000375708.3	37	c.169	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfscan_Ig-like		0.552	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	G			94538029	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	silent	SNP	1.000	A
RUSC1	23623	genome.wustl.edu	37	1	155291885	155291885	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:155291885C>G	ENST00000368352.5	+	2	472	c.321C>G	c.(319-321)agC>agG	p.S107R	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S107R|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	107					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCACTCAGCTCCTGCTCAG	0.637																																																	0													45.0	48.0	47.0					1																	155291885		2058	4197	6255	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.321C>G	1.37:g.155291885C>G	ENSP00000357336:p.Ser107Arg		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.S107R	ENST00000368352.5	37	c.321	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649941	0.67472	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.29397	1.59;1.57	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000010	T	0.28830	0.0715	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	T	0.19353	-1.0308	10	0.87932	D	0	-2.6215	14.7087	0.69211	0.0:1.0:0.0:0.0	.	107	Q9BVN2	RUSC1_HUMAN	R	107	ENSP00000357338:S107R;ENSP00000357336:S107R	ENSP00000357336:S107R	S	+	3	2	RUSC1	153558509	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.764000	0.38471	2.326000	0.78906	0.561000	0.74099	AGC	RUSC1	-	NULL		0.637	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155291885	+1	no_errors	ENST00000368352	ensembl	human	known	70_37	missense	SNP	1.000	G
RUSC1	23623	genome.wustl.edu	37	1	155291887	155291887	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:155291887C>T	ENST00000368352.5	+	2	474	c.323C>T	c.(322-324)tCc>tTc	p.S108F	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S108F|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	108					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.S108C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCACTCAGCTCCTGCTCAGAT	0.632																																																	1	Substitution - Missense(1)	breast(1)											46.0	49.0	48.0					1																	155291887		2061	4196	6257	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.323C>T	1.37:g.155291887C>T	ENSP00000357336:p.Ser108Phe		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.S108F	ENST00000368352.5	37	c.323	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545832	0.65198	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.30182	1.55;1.54	4.49	4.49	0.54785	.	0.139126	0.33712	N	0.004633	T	0.22244	0.0536	N	0.24115	0.695	0.80722	D	1	P	0.52316	0.952	P	0.52267	0.694	T	0.04537	-1.0944	10	0.87932	D	0	-15.4718	14.7087	0.69211	0.0:1.0:0.0:0.0	.	108	Q9BVN2	RUSC1_HUMAN	F	108	ENSP00000357338:S108F;ENSP00000357336:S108F	ENSP00000357336:S108F	S	+	2	0	RUSC1	153558511	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.900000	0.56295	2.326000	0.78906	0.561000	0.74099	TCC	RUSC1	-	NULL		0.632	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	C			155291887	+1	no_errors	ENST00000368352	ensembl	human	known	70_37	missense	SNP	1.000	T
RUSC2	9853	genome.wustl.edu	37	9	35546762	35546762	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:35546762G>A	ENST00000455600.1	+	2	813	c.244G>A	c.(244-246)Gac>Aac	p.D82N	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	82						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACGGTCTATAGACAGCACCAA	0.587																																																	0													76.0	70.0	72.0					9																	35546762		2203	4300	6503	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.244G>A	9.37:g.35546762G>A	ENSP00000393922:p.Asp82Asn		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.D82N	ENST00000455600.1	37	c.244	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233758	0.39498	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23552	1.9;1.9	5.51	5.51	0.81932	.	0.356059	0.29159	N	0.012976	T	0.21267	0.0512	N	0.24115	0.695	0.43714	D	0.996187	B	0.14805	0.011	B	0.08055	0.003	T	0.02378	-1.1168	10	0.42905	T	0.14	-13.3846	18.3955	0.90496	0.0:0.0:1.0:0.0	.	82	Q8N2Y8	RUSC2_HUMAN	N	82	ENSP00000355177:D82N;ENSP00000393922:D82N	ENSP00000355177:D82N	D	+	1	0	RUSC2	35536762	0.313000	0.24554	0.998000	0.56505	0.501000	0.33797	2.863000	0.48396	2.591000	0.87537	0.555000	0.69702	GAC	RUSC2	-	NULL		0.587	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35546762	+1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	0.989	A
PRKACA	5566	genome.wustl.edu	37	19	14200167	14200167	+	IGR	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:14200167C>T	ENST00000308677.4	-	0	2677				PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.G215E	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCGCTCTTCTCCACCTCTCTG	0.512																																																	0													42.0	48.0	46.0					19																	14200167		1748	3451	5199	SO:0001628	intergenic_variant	90378				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14200167C>T			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G215E	ENST00000308677.4	37	c.644	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	9.052	0.992445	0.18966	.	.	ENSG00000141858	ENST00000533683	T	0.45276	0.9	2.85	2.85	0.33270	.	0.729873	0.11949	N	0.513892	T	0.46405	0.1391	N	0.19112	0.55	0.32975	D	0.522923	D	0.89917	1.0	D	0.80764	0.994	T	0.54556	-0.8276	10	0.54805	T	0.06	-8.9492	9.2567	0.37588	0.0:1.0:0.0:0.0	.	215	E9PIW9	.	E	215	ENSP00000431971:G215E	ENSP00000431971:G215E	G	-	2	0	SAMD1	14061167	0.695000	0.27747	1.000000	0.80357	0.153000	0.21895	1.050000	0.30404	1.584000	0.49913	0.462000	0.41574	GGA	SAMD1	-	NULL		0.512	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14200167	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	missense	SNP	1.000	T
SERGEF	26297	genome.wustl.edu	37	11	17899778	17899778	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:17899778G>C	ENST00000265965.5	-	10	1176	c.1025C>G	c.(1024-1026)tCa>tGa	p.S342*	SERGEF_ENST00000528200.1_Silent_p.L286L|SERGEF_ENST00000532265.1_Silent_p.L172L	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	342					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						ATTATGCTCTGAGCCACAAGA	0.299																																																	0													31.0	32.0	32.0					11																	17899778		2199	4293	6492	SO:0001587	stop_gained	26297			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.1025C>G	11.37:g.17899778G>C	ENSP00000265965:p.Ser342*		Q9UGK9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S342*	ENST00000265965.5	37	c.1025	CCDS7828.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.817517|3.817517	0.70912|0.70912	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000529151|ENST00000265965	.|.	.|.	.|.	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.56232|.	0.1971|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44832|.	-0.9302|.	4|.	.|0.19147	.|T	.|0.46	-8.2698|-8.2698	12.946|12.946	0.58373|0.58373	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	206|342	.|.	.|ENSP00000265965:S342X	Q|S	-|-	1|2	0|0	SERGEF|SERGEF	17856354|17856354	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	4.492000|4.492000	0.60334|0.60334	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SERGEF	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.299	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERGEF	HGNC	protein_coding	OTTHUMT00000389538.1	G	NM_012139		17899778	-1	no_errors	ENST00000265965	ensembl	human	known	70_37	nonsense	SNP	0.997	C
LRRC37B	114659	genome.wustl.edu	37	17	30367483	30367483	+	Intron	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:30367483C>G	ENST00000341671.7	+	7	2128				SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000327564.7_Intron|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Intron	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAAAGCAGTTCTACAAGGCAA	0.612																																																	0																																										SO:0001627	intron_variant	6458			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2123+4825C>G	17.37:g.30367483C>G			Q17RC9|Q5YKG6	RNA	SNP	-	NULL	ENST00000341671.7	37	NULL	CCDS32609.1	17																																																																																			SH3GL1P1	-	-		0.612	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1P1	HGNC	protein_coding	OTTHUMT00000446508.1	C	NM_052888		30367483	+1	no_errors	ENST00000582640	ensembl	human	known	70_37	rna	SNP	0.997	G
SLC25A43	203427	genome.wustl.edu	37	X	118588170	118588170	+	3'UTR	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:118588170C>G	ENST00000217909.7	+	0	2512				SLC25A43_ENST00000488158.1_3'UTR|Y_RNA_ENST00000516338.1_RNA	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CACACATACTCAAAAAAATGT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	203427			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.*1142C>G	X.37:g.118588170C>G			O75854|Q8N9L5	RNA	SNP	-	NULL	ENST00000217909.7	37	NULL	CCDS14577.1	X																																																																																			SLC25A43	-	-		0.313	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	C	NM_145305		118588170	+1	no_errors	ENST00000488158	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC30A2	7780	genome.wustl.edu	37	1	26368273	26368273	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:26368273G>A	ENST00000374278.3	-	5	825	c.609C>T	c.(607-609)ccC>ccT	p.P203P	SLC30A2_ENST00000498060.1_5'Flank|SLC30A2_ENST00000374276.3_Silent_p.P252P	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	203					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCAGATGGGGTCTACAT	0.542																																																	0													158.0	120.0	133.0					1																	26368273		2203	4300	6503	SO:0001819	synonymous_variant	7780			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.609C>T	1.37:g.26368273G>A			Q71RC8	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.P252	ENST00000374278.3	37	c.756	CCDS272.1	1																																																																																			SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.542	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1	G	NM_032513		26368273	-1	no_errors	ENST00000374276	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC38A10	124565	genome.wustl.edu	37	17	79225149	79225149	+	Intron	SNP	G	G	A	rs200982751		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:79225149G>A	ENST00000374759.3	-	14	2449				SLC38A10_ENST00000288439.5_Missense_Mutation_p.R737W	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10						amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAAGCTCTCCGAGGGGTCTGC	0.622																																																	0								G	,TRP/ARG	0,4396		0,0,2198	24.0	32.0	29.0		,2209	-4.2	0.0	17		29	1,8587		0,1,4293	no	intron,missense	SLC38A10	NM_001037984.1,NM_138570.2	,101	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	,	,737/781	79225149	1,12983	2198	4294	6492	SO:0001627	intron_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2065+143C>T	17.37:g.79225149G>A			Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R737W	ENST00000374759.3	37	c.2209	CCDS42397.1	17	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042584	0.35989	0.0	1.16E-4	ENSG00000157637	ENST00000288439	T	0.13307	2.6	2.11	-4.23	0.03789	.	.	.	.	.	T	0.04998	0.0134	.	.	.	0.09310	N	1	D	0.54207	0.965	B	0.28553	0.091	T	0.23976	-1.0173	8	0.87932	D	0	.	0.9834	0.01441	0.2306:0.3387:0.2626:0.1681	.	737	Q9HBR0-2	.	W	737	ENSP00000288439:R737W	ENSP00000288439:R737W	R	-	1	2	SLC38A10	76839744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.006000	0.01459	-1.110000	0.02992	-0.397000	0.06425	CGG	SLC38A10	-	NULL		0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	G	NM_138570		79225149	-1	no_errors	ENST00000288439	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC4A2	6522	genome.wustl.edu	37	7	150768846	150768846	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150768846C>T	ENST00000485713.1	+	15	3302	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	SLC4A2_ENST00000413384.2_Silent_p.F754F|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.F745F|SLC4A2_ENST00000310317.5_Silent_p.F672F|SLC4A2_ENST00000461735.1_Silent_p.F740F	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	754	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGTGGTCTTCTGCCTGCTGG	0.617																																																	0													83.0	90.0	88.0					7																	150768846		2203	4300	6503	SO:0001819	synonymous_variant	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2262C>T	7.37:g.150768846C>T			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.F754	ENST00000485713.1	37	c.2262	CCDS5917.1	7																																																																																			SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	C	NM_003040		150768846	+1	no_errors	ENST00000413384	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC4A2	6522	genome.wustl.edu	37	7	150771157	150771157	+	Missense_Mutation	SNP	C	C	T	rs543796017	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150771157C>T	ENST00000485713.1	+	17	3607	c.2567C>T	c.(2566-2568)tCa>tTa	p.S856L	SLC4A2_ENST00000413384.2_Missense_Mutation_p.S856L|FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S847L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S774L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.S842L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	856	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGCTGCTCAGCCTCCAAC	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		14290	0.003		0.0	False		,,,				2504	0.0																0													40.0	48.0	45.0					7																	150771157		2202	4299	6501	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2567C>T	7.37:g.150771157C>T	ENSP00000419412:p.Ser856Leu		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.S856L	ENST00000485713.1	37	c.2567	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	C	5.628	0.300533	0.10678	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.01	3.17	0.36434	Bicarbonate transporter, C-terminal (1);	0.163403	0.41097	N	0.000944	T	0.66147	0.2760	L	0.39245	1.2	0.34952	D	0.75137	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.68368	-0.5427	10	0.48119	T	0.1	.	7.7092	0.28667	0.0:0.8049:0.0:0.1951	.	847;842;856	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	L	856;856;774;847;842	ENSP00000419412:S856L;ENSP00000405600:S856L;ENSP00000311402:S774L;ENSP00000376571:S847L;ENSP00000419164:S842L	ENSP00000311402:S774L	S	+	2	0	SLC4A2	150402090	0.000000	0.05858	0.038000	0.18304	0.369000	0.29798	-0.136000	0.10405	1.345000	0.45676	0.561000	0.74099	TCA	SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	C	NM_003040		150771157	+1	no_errors	ENST00000413384	ensembl	human	known	70_37	missense	SNP	0.440	T
SLC4A2	6522	genome.wustl.edu	37	7	150771163	150771163	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:150771163C>A	ENST00000485713.1	+	17	3613	c.2573C>A	c.(2572-2574)tCc>tAc	p.S858Y	SLC4A2_ENST00000413384.2_Missense_Mutation_p.S858Y|FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S849Y|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S776Y|SLC4A2_ENST00000461735.1_Missense_Mutation_p.S844Y	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	858	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTCAGCCTCCAACAGCTCA	0.647																																																	0													40.0	47.0	45.0					7																	150771163		2202	4299	6501	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2573C>A	7.37:g.150771163C>A	ENSP00000419412:p.Ser858Tyr		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.S858Y	ENST00000485713.1	37	c.2573	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.248918	0.01469	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.01	5.01	0.66863	Bicarbonate transporter, C-terminal (1);	0.283962	0.34200	N	0.004165	T	0.61689	0.2367	N	0.19112	0.55	0.38214	D	0.940567	B;B;B	0.13594	0.008;0.003;0.004	B;B;B	0.16722	0.009;0.009;0.016	T	0.58148	-0.7687	10	0.02654	T	1	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	849;844;858	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	Y	858;858;776;849;844	ENSP00000419412:S858Y;ENSP00000405600:S858Y;ENSP00000311402:S776Y;ENSP00000376571:S849Y;ENSP00000419164:S844Y	ENSP00000311402:S776Y	S	+	2	0	SLC4A2	150402096	0.003000	0.15002	0.985000	0.45067	0.236000	0.25371	0.757000	0.26433	2.607000	0.88179	0.561000	0.74099	TCC	SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	C	NM_003040		150771163	+1	no_errors	ENST00000413384	ensembl	human	known	70_37	missense	SNP	0.989	A
SLC6A6	6533	genome.wustl.edu	37	3	14486250	14486250	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:14486250C>T	ENST00000454876.2	+	3	558				SLC6A6_ENST00000416216.2_Intron|SLC6A6_ENST00000360861.3_Intron|SLC6A6_ENST00000484191.1_Intron			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ttgtaggtctcaggccccttt	0.498																																																	0																																										SO:0001627	intron_variant	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.229+879C>T	3.37:g.14486250C>T			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	p.L78	ENST00000454876.2	37	c.234	CCDS33705.1	3																																																																																			SLC6A6	-	NULL		0.498	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	C	NM_003043		14486250	+1	no_errors	ENST00000435095	ensembl	human	known	70_37	silent	SNP	0.744	T
SMARCA4	6597	genome.wustl.edu	37	19	11106898	11106898	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:11106898G>A	ENST00000429416.3	+	11	1884	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	SMARCA4_ENST00000344626.4_Missense_Mutation_p.E535K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E535K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E535K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E535K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E535K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E535K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E535K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E535K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	535					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCTGAAGATGAGGAGGGGTA	0.562			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											166.0	141.0	149.0					19																	11106898		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1603G>A	19.37:g.11106898G>A	ENSP00000395654:p.Glu535Lys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E535K	ENST00000429416.3	37	c.1603	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.109555	0.94292	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.991;0.999;0.999;0.995;0.999;0.999	D	0.90495	0.4470	10	0.87932	D	0	-44.5682	17.0373	0.86479	0.0:0.0:1.0:0.0	.	535;535;535;535;535;535;535	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	535;535;599;535;535;535;535;535	ENSP00000395654:E535K;ENSP00000350720:E535K;ENSP00000343896:E535K;ENSP00000445036:E535K;ENSP00000392837:E535K;ENSP00000397783:E535K;ENSP00000414727:E535K	ENSP00000343896:E535K	E	+	1	0	SMARCA4	10967898	1.000000	0.71417	0.951000	0.38953	0.878000	0.50629	9.711000	0.98735	2.371000	0.80710	0.563000	0.77884	GAG	SMARCA4	-	NULL		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11106898	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	A
MIEF2	125170	genome.wustl.edu	37	17	18167278	18167278	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:18167278G>T	ENST00000323019.4	+	4	776	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.G200W|MIEF2_ENST00000395704.4_Missense_Mutation_p.G164V	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	189					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GCTGCAGGCGGGGGCTGCGGA	0.697																																																	0													10.0	11.0	10.0					17																	18167278		2178	4273	6451	SO:0001583	missense	125170			BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.565G>T	17.37:g.18167278G>T	ENSP00000323591:p.Gly189Trp		J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	NULL	p.G189W	ENST00000323019.4	37	c.565	CCDS11193.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.919|1.919	-0.448705|-0.448705	0.04572|0.04572	.|.	.|.	ENSG00000177427|ENSG00000177427	ENST00000395704|ENST00000323019;ENST00000395706	T|T;T	0.44083|0.11821	0.93|2.75;2.74	5.31|5.31	3.28|3.28	0.37604|0.37604	.|.	0.659631|0.659631	0.15390|0.15390	N|N	0.264880|0.264880	T|T	0.22399|0.22399	0.0540|0.0540	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|D	0.30146|0.63880	0.27|0.993	B|P	0.32805|0.55923	0.153|0.787	T|T	0.10800|0.10800	-1.0614|-1.0614	9|9	0.28530|0.72032	T|D	0.3|0.01	-24.9392|-24.9392	4.5837|4.5837	0.12271|0.12271	0.0814:0.3007:0.4796:0.1384|0.0814:0.3007:0.4796:0.1384	.|.	164|189	Q96C03-2|Q96C03	.|MID49_HUMAN	V|W	164|189;200	ENSP00000379056:G164V|ENSP00000323591:G189W;ENSP00000379057:G200W	ENSP00000379056:G164V|ENSP00000323591:G189W	G|G	+|+	2|1	0|0	SMCR7|SMCR7	18108003|18108003	0.913000|0.913000	0.31002|0.31002	0.003000|0.003000	0.11579|0.11579	0.015000|0.015000	0.08874|0.08874	1.546000|1.546000	0.36179|0.36179	0.596000|0.596000	0.29794|0.29794	0.558000|0.558000	0.71614|0.71614	GGG|GGG	SMCR7	-	NULL		0.697	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7	HGNC	protein_coding	OTTHUMT00000132060.2	G	NM_139162		18167278	+1	no_errors	ENST00000323019	ensembl	human	known	70_37	missense	SNP	0.001	T
SMG1	23049	genome.wustl.edu	37	16	18846284	18846284	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:18846284G>T	ENST00000446231.2	-	49	8672	c.8260C>A	c.(8260-8262)Cat>Aat	p.H2754N	SMG1_ENST00000389467.3_Missense_Mutation_p.H2754N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2754					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATTCTCATGAAGGAAAACT	0.383																																																	0													208.0	198.0	201.0					16																	18846284		1899	4123	6022	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8260C>A	16.37:g.18846284G>T	ENSP00000402515:p.His2754Asn		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.H2754N	ENST00000446231.2	37	c.8260	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693844	0.48202	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01025	5.43;5.43	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.00815	0.0027	N	0.14661	0.345	0.34945	D	0.75069	P	0.43477	0.808	B	0.27887	0.084	T	0.73036	-0.4109	10	0.48119	T	0.1	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	2754	Q96Q15	SMG1_HUMAN	N	2754	ENSP00000402515:H2754N;ENSP00000374118:H2754N	ENSP00000374118:H2754N	H	-	1	0	SMG1	18753785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.180000	0.71981	2.810000	0.96702	0.585000	0.79938	CAT	SMG1	-	superfamily_ARM-type_fold		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18846284	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	T
SMPD1	6609	genome.wustl.edu	37	11	6412643	6412643	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:6412643C>T	ENST00000342245.4	+	2	516	c.348C>T	c.(346-348)tcC>tcT	p.S116S	SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Silent_p.S116S|SMPD1_ENST00000527275.1_Silent_p.S115S|SMPD1_ENST00000356761.2_Silent_p.S116S	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	114	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GCGTGGGCTCCGTGGCCATCA	0.582																																																	0													69.0	56.0	60.0					11																	6412643		2201	4296	6497	SO:0001819	synonymous_variant	6609			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.348C>T	11.37:g.6412643C>T			A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.S116	ENST00000342245.4	37	c.348	CCDS44531.1	11																																																																																			SMPD1	-	superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB		0.582	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	C	NM_000543		6412643	+1	no_errors	ENST00000342245	ensembl	human	known	70_37	silent	SNP	0.000	T
SNCG	6623	genome.wustl.edu	37	10	88719858	88719858	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:88719858C>T	ENST00000372017.3	+	3	306	c.264C>T	c.(262-264)atC>atT	p.I88I	SNCG_ENST00000348795.4_Missense_Mutation_p.R106C|SNCG_ENST00000483064.1_3'UTR|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	88					adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CGGAGAACATCGCGGTCACCT	0.677																																																	0													95.0	80.0	85.0					10																	88719858		2203	4300	6503	SO:0001819	synonymous_variant	6623			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.264C>T	10.37:g.88719858C>T			O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein	p.R106C	ENST00000372017.3	37	c.316	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583600	0.13749	.	.	ENSG00000173267	ENST00000348795	D	0.88896	-2.44	4.69	-5.13	0.02884	.	.	.	.	.	D	0.87083	0.6089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81158	-0.1060	6	0.87932	D	0	4.6376	4.4262	0.11503	0.102:0.2545:0.101:0.5425	.	.	.	.	C	106	ENSP00000344658:R106C	ENSP00000344658:R106C	R	+	1	0	SNCG	88709838	0.000000	0.05858	0.007000	0.13788	0.390000	0.30446	-1.811000	0.01728	-0.983000	0.03511	0.561000	0.74099	CGC	SNCG	-	NULL		0.677	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	C			88719858	+1	no_errors	ENST00000348795	ensembl	human	known	70_37	missense	SNP	0.002	T
SNORD3C	780853	genome.wustl.edu	37	17	19091383	19091383	+	lincRNA	SNP	G	G	A	rs555313329	byFrequency	TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:19091383G>A	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		aagtttctctgaacgtgtaga	0.507																																																	0																																												780851					17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091383G>A				RNA	SNP	-	NULL	ENST00000362428.1	37	NULL		17																																																																																			SNORD3A	-	-		0.507	SNORD3C-201	KNOWN	basic	snoRNA	SNORD3A	HGNC	lincRNA		G	NR_006881		19091383	+1	no_errors	ENST00000365494	ensembl	human	known	70_37	rna	SNP	0.986	A
SORCS1	114815	genome.wustl.edu	37	10	108427547	108427547	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:108427547C>G	ENST00000263054.6	-	17	2210	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	SORCS1_ENST00000369698.1_Missense_Mutation_p.E270Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.E735Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	735					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.E735*(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGTGTCGCTCATAACCATAG	0.463																																																	2	Substitution - Nonsense(2)	lung(2)											64.0	58.0	60.0					10																	108427547		2203	4300	6503	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2203G>C	10.37:g.108427547C>G	ENSP00000263054:p.Glu735Gln		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.E735Q	ENST00000263054.6	37	c.2203	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587858	0.86851	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.26373	1.74;2.3;2.3	5.49	5.49	0.81192	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.67397	2.05	0.58432	D	0.999993	D;D;D;D;D	0.71674	0.997;0.998;0.998;0.997;0.998	D;D;D;D;D	0.72075	0.947;0.976;0.976;0.947;0.976	T	0.39781	-0.9597	9	.	.	.	-30.9669	19.7394	0.96219	0.0:1.0:0.0:0.0	.	735;735;735;735;735	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	270;735;735	ENSP00000358712:E270Q;ENSP00000263054:E735Q;ENSP00000345964:E735Q	.	E	-	1	0	SORCS1	108417537	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.409000	0.80053	2.745000	0.94114	0.462000	0.41574	GAG	SORCS1	-	smart_VPS10		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	C	NM_052918		108427547	-1	no_errors	ENST00000344440	ensembl	human	known	70_37	missense	SNP	1.000	G
SRPK2	6733	genome.wustl.edu	37	7	104773330	104773330	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:104773330C>A	ENST00000393651.3	-	13	1747	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	SRPK2_ENST00000357311.3_Nonsense_Mutation_p.E543*|SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E543*	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TGGATGTCTTCCGTGAAGTGT	0.507																																																	0													58.0	51.0	54.0					7																	104773330		2203	4299	6502	SO:0001587	stop_gained	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.1660G>T	7.37:g.104773330C>A	ENSP00000377262:p.Glu554*			Nonsense_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.E554*	ENST00000393651.3	37	c.1660	CCDS34724.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.642847|6.642847	0.97730|0.97730	.|.	.|.	ENSG00000135250|ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828|ENST00000477925	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80253	.|0.4589	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77453	.|-0.2582	.|3	.|.	.|.	.|.	-23.347|-23.347	20.3316|20.3316	0.98722|0.98722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	554;543;543|149	.|.	.|.	E|G	-|-	1|2	0|0	SRPK2|SRPK2	104560566|104560566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.772000|7.772000	0.85439|0.85439	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAA|GGA	SRPK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.507	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		104773330	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SRPX2	27286	genome.wustl.edu	37	X	99901356	99901356	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:99901356C>G	ENST00000373004.3	+	2	465	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	SRPX2_ENST00000481988.1_3'UTR	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	13					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AGCTCTCTTTCTGCTGTTCTT	0.468																																																	0													151.0	130.0	137.0					X																	99901356		2203	4300	6503	SO:0001583	missense	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.37C>G	X.37:g.99901356C>G	ENSP00000362095:p.Leu13Val		B3KQT3|Q8WW85	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L13V	ENST00000373004.3	37	c.37	CCDS14471.1	X	.	.	.	.	.	.	.	.	.	.	C	8.583	0.882787	0.17467	.	.	ENSG00000102359	ENST00000373004	T	0.31247	1.5	5.91	4.12	0.48240	.	0.158478	0.42682	D	0.000675	T	0.33030	0.0849	N	0.20986	0.625	0.29577	N	0.84943	P	0.52842	0.956	P	0.62184	0.899	T	0.12344	-1.0551	9	.	.	.	-3.9733	7.145	0.25577	0.1676:0.7436:0.0:0.0888	.	13	O60687	SRPX2_HUMAN	V	13	ENSP00000362095:L13V	.	L	+	1	2	SRPX2	99788012	0.895000	0.30542	0.836000	0.33094	0.471000	0.32888	1.061000	0.30542	0.606000	0.29965	0.600000	0.82982	CTG	SRPX2	-	NULL		0.468	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	C	NM_014467		99901356	+1	no_errors	ENST00000373004	ensembl	human	known	70_37	missense	SNP	0.957	G
STON2	85439	genome.wustl.edu	37	14	81745071	81745071	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr14:81745071G>A	ENST00000267540.2	-	4	784	c.584C>T	c.(583-585)tCg>tTg	p.S195L	STON2_ENST00000555447.1_Missense_Mutation_p.S195L|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	195					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTCTTGAAGCGAGGAGGAATT	0.493																																																	0													55.0	58.0	57.0					14																	81745071		2202	4300	6502	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.584C>T	14.37:g.81745071G>A	ENSP00000267540:p.Ser195Leu		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S195L	ENST00000267540.2	37	c.584	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	G	6.736	0.504652	0.12822	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55234	0.53;0.53	6.11	5.22	0.72569	Stonin-2, N-terminal (1);	0.152767	0.47093	N	0.000254	T	0.44117	0.1278	L	0.45581	1.43	0.35098	D	0.764986	P;P	0.45986	0.87;0.842	B;B	0.35470	0.203;0.129	T	0.59974	-0.7353	10	0.42905	T	0.14	-8.7092	15.4263	0.75055	0.0661:0.0:0.9339:0.0	.	195;195	Q8WXE9;G3V2T7	STON2_HUMAN;.	L	195;207;195	ENSP00000450857:S195L;ENSP00000267540:S195L	ENSP00000267540:S195L	S	-	2	0	STON2	80814824	1.000000	0.71417	0.986000	0.45419	0.089000	0.18198	3.858000	0.55979	1.605000	0.50152	0.655000	0.94253	TCG	STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.493	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	G	NM_033104		81745071	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	missense	SNP	0.988	A
SYNPO2	171024	genome.wustl.edu	37	4	119952442	119952442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:119952442C>T	ENST00000429713.2	+	4	2694	c.2512C>T	c.(2512-2514)Cag>Tag	p.Q838*	SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q838*|SYNPO2_ENST00000307142.4_Nonsense_Mutation_p.Q838*|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	838						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTAGCCAGTCAGAATTACAC	0.527																																																	0													78.0	81.0	80.0					4																	119952442		2203	4300	6503	SO:0001587	stop_gained	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2512C>T	4.37:g.119952442C>T	ENSP00000395143:p.Gln838*		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q838*	ENST00000429713.2	37	c.2512	CCDS47129.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.717597|5.717597	0.96839|0.96839	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	.|T	.|0.11277	.|2.79	5.76|5.76	0.747|0.747	0.18371|0.18371	.|.	1.145840|.	0.06391|.	N|.	0.717002|.	.|T	.|0.08223	.|0.0205	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40079	.|-0.9582	.|5	.|.	.|.	.|.	0.5164|0.5164	5.6706|5.6706	0.17721|0.17721	0.2227:0.496:0.2168:0.0645|0.2227:0.496:0.2168:0.0645	.|.	.|.	.|.	.|.	X|L	838|789	.|ENSP00000425496:S789L	.|.	Q|S	+|+	1|2	0|0	SYNPO2|SYNPO2	120171890|120171890	0.015000|0.015000	0.18098|0.18098	0.016000|0.016000	0.15963|0.15963	0.973000|0.973000	0.67179|0.67179	1.907000|1.907000	0.39897|0.39897	0.349000|0.349000	0.23975|0.23975	-0.169000|-0.169000	0.13324|0.13324	CAG|TCA	SYNPO2	-	NULL		0.527	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	C			119952442	+1	no_errors	ENST00000307142	ensembl	human	known	70_37	nonsense	SNP	0.000	T
SYTL2	54843	genome.wustl.edu	37	11	85422265	85422265	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:85422265C>T	ENST00000528231.1	-	11	1998	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K	SYTL2_ENST00000529581.1_Missense_Mutation_p.R16K|SYTL2_ENST00000354566.3_Missense_Mutation_p.R912K|SYTL2_ENST00000525702.1_Missense_Mutation_p.R16K|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389958.3_Missense_Mutation_p.R5K|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000316356.4_Missense_Mutation_p.R575K|SYTL2_ENST00000527523.1_Missense_Mutation_p.R542K|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.R1420K|SYTL2_ENST00000525423.1_Missense_Mutation_p.R896K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	574					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATCTGTTTCTCTGTCATCACT	0.403																																																	0													132.0	129.0	130.0					11																	85422265		2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1721G>A	11.37:g.85422265C>T	ENSP00000431701:p.Arg574Lys		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1420K	ENST00000528231.1	37	c.4259	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.101242	0.94245	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000528231;ENST00000527523;ENST00000529534;ENST00000534414;ENST00000526999;ENST00000532221;ENST00000524911	T;T;T;T;T;T;T;T;T;T	0.38077	1.67;1.66;1.76;1.19;1.68;1.19;1.16;1.74;1.61;2.0	6.06	6.06	0.98353	.	0.213762	0.46442	D	0.000284	T	0.59797	0.2220	M	0.61703	1.905	0.58432	D	0.999999	D;D;D;P;D;P	0.76494	0.992;0.986;0.983;0.903;0.999;0.919	D;P;P;B;D;P	0.71184	0.918;0.844;0.899;0.37;0.972;0.633	T	0.51957	-0.8639	9	.	.	.	-23.997	20.6397	0.99537	0.0:1.0:0.0:0.0	.	542;574;575;896;912;5	Q9HCH5-14;Q9HCH5;Q9HCH5-13;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9	.;SYTL2_HUMAN;.;.;.;.	K	1420;912;575;16;896;16;5;574;542;16;69;16;16;16	ENSP00000352065:R1420K;ENSP00000346576:R912K;ENSP00000318803:R575K;ENSP00000432996:R16K;ENSP00000432694:R896K;ENSP00000435855:R16K;ENSP00000374608:R5K;ENSP00000431701:R574K;ENSP00000434010:R542K;ENSP00000432137:R16K	.	R	-	2	0	SYTL2	85099913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.096000	0.57734	2.880000	0.98712	0.650000	0.86243	AGA	SYTL2	-	NULL		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	C	NM_206927		85422265	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	1.000	T
TBC1D19	55296	genome.wustl.edu	37	4	26719616	26719616	+	Missense_Mutation	SNP	C	C	T	rs377374054		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:26719616C>T	ENST00000264866.4	+	14	1294	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	TBC1D19_ENST00000511789.1_Missense_Mutation_p.S274L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	339	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACAGTGCCTCGCCACCAAAA	0.303																																																	0								C	LEU/SER	0,4406		0,0,2203	124.0	117.0	119.0		1016	4.9	1.0	4		119	1,8597	1.2+/-3.3	0,1,4298	no	missense	TBC1D19	NM_018317.2	145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	339/527	26719616	1,13003	2203	4299	6502	SO:0001583	missense	55296			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1016C>T	4.37:g.26719616C>T	ENSP00000264866:p.Ser339Leu		B9A6M0|Q9NUX1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S339L	ENST00000264866.4	37	c.1016	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074975	0.55646	0.0	1.16E-4	ENSG00000109680	ENST00000264866;ENST00000511789	T;T	0.30182	1.54;1.54	4.95	4.95	0.65309	Rab-GAP/TBC domain (2);	0.135690	0.50627	D	0.000104	T	0.24890	0.0604	L	0.40543	1.245	0.48975	D	0.999734	B;B;B	0.32731	0.382;0.196;0.196	B;B;B	0.22601	0.04;0.026;0.016	T	0.05354	-1.0890	10	0.46703	T	0.11	-8.4092	15.0913	0.72195	0.0:1.0:0.0:0.0	.	274;339;339	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	L	339;274	ENSP00000264866:S339L;ENSP00000425569:S274L	ENSP00000264866:S339L	S	+	2	0	TBC1D19	26328714	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.340000	0.65958	2.263000	0.75096	0.557000	0.71058	TCG	TBC1D19	-	smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.303	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	C	NM_018317		26719616	+1	no_errors	ENST00000264866	ensembl	human	known	70_37	missense	SNP	1.000	T
TBC1D2B	23102	genome.wustl.edu	37	15	78316761	78316761	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr15:78316761C>T	ENST00000300584.3	-	6	1206	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D403N	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	403							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAATCTGATCATCCTTTTGG	0.547																																																	0													155.0	154.0	154.0					15																	78316761		2196	4293	6489	SO:0001583	missense	23102			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1207G>A	15.37:g.78316761C>T	ENSP00000300584:p.Asp403Asn		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.D403N	ENST00000300584.3	37	c.1207	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.81|16.81	3.226179|3.226179	0.58668|0.58668	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.08193|.	3.12;3.13|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.695001|.	0.15172|.	N|.	0.276602|.	T|T	0.47097|0.47097	0.1427|0.1427	L|L	0.51422|0.51422	1.61|1.61	0.25639|0.25639	N|N	0.986229|0.986229	B;B|.	0.26547|.	0.152;0.094|.	B;B|.	0.27500|.	0.08;0.023|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.26408|.	T|.	0.33|.	.|.	12.1721|12.1721	0.54165|0.54165	0.0:0.9223:0.0:0.0777|0.0:0.9223:0.0:0.0777	.|.	403;403|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	N|I	403;403;291|284	ENSP00000387165:D403N;ENSP00000300584:D403N|.	ENSP00000300584:D403N|.	D|M	-|-	1|3	0|0	TBC1D2B|TBC1D2B	76103816|76103816	0.001000|0.001000	0.12720|0.12720	0.299000|0.299000	0.25016|0.25016	0.936000|0.936000	0.57629|0.57629	0.993000|0.993000	0.29680|0.29680	2.681000|2.681000	0.91329|0.91329	0.491000|0.491000	0.48974|0.48974	GAT|ATG	TBC1D2B	-	NULL		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	C	NM_015079		78316761	-1	no_errors	ENST00000300584	ensembl	human	known	70_37	missense	SNP	0.741	T
TBCK	93627	genome.wustl.edu	37	4	107173034	107173034	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:107173034C>G	ENST00000273980.5	-	7	1033	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TBCK_ENST00000361687.4_Missense_Mutation_p.E133Q|TBCK_ENST00000394706.3_Intron|TBCK_ENST00000432496.2_Missense_Mutation_p.E196Q|TBCK_ENST00000394708.2_Missense_Mutation_p.E196Q					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ACACAAAGCTCAAATAAAATG	0.318																																																	0													71.0	72.0	72.0					4																	107173034		2203	4300	6503	SO:0001583	missense	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.586G>C	4.37:g.107173034C>G	ENSP00000273980:p.Glu196Gln			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom	p.E196Q	ENST00000273980.5	37	c.586	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027080	0.93518	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394708	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.81914	0.971;0.995	T	0.22452	-1.0216	10	0.40728	T	0.16	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	196;133	Q8TEA7;Q8TEA7-3	TBCK_HUMAN;.	Q	196;196;133;196	ENSP00000273980:E196Q;ENSP00000405847:E196Q;ENSP00000355338:E133Q;ENSP00000378198:E196Q	ENSP00000273980:E196Q	E	-	1	0	TBCK	107392483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.114000	0.77103	2.779000	0.95612	0.655000	0.94253	GAG	TBCK	-	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		0.318	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	C	NM_033115		107173034	-1	no_errors	ENST00000273980	ensembl	human	known	70_37	missense	SNP	1.000	G
TBX18	9096	genome.wustl.edu	37	6	85457706	85457706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:85457706C>A	ENST00000369663.5	-	5	1208	c.871G>T	c.(871-873)Gag>Tag	p.E291*	TBX18_ENST00000606784.1_Nonsense_Mutation_p.E133*|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	291					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTTACTCCCTCCCCGGATGGA	0.453																																																	0													109.0	94.0	99.0					6																	85457706		2203	4300	6503	SO:0001587	stop_gained	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.871G>T	6.37:g.85457706C>A	ENSP00000358677:p.Glu291*		A2RU13|Q7Z6U4|Q9UJI6	Nonsense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E291*	ENST00000369663.5	37	c.871	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.688645	0.98434	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	.	.	.	5.86	5.86	0.93980	.	0.088776	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	.	.	.	X	206;291	.	ENSP00000358677:E291X	E	-	1	0	TBX18	85514425	1.000000	0.71417	0.996000	0.52242	0.417000	0.31264	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GAG	TBX18	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box		0.453	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	HGNC	protein_coding	OTTHUMT00000041378.2	C	NM_001080508		85457706	-1	no_errors	ENST00000369663	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TCF25	22980	genome.wustl.edu	37	16	89961512	89961512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:89961512C>T	ENST00000263346.8	+	8	951	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	TCF25_ENST00000263347.7_Nonsense_Mutation_p.Q64*	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	299					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CTGCCGCTTTCAAGAGGATCA	0.592																																																	0													65.0	54.0	58.0					16																	89961512		2198	4300	6498	SO:0001587	stop_gained	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.895C>T	16.37:g.89961512C>T	ENSP00000263346:p.Gln299*		Q2MK75|Q9UPV3	Nonsense_Mutation	SNP	pfam_TCF25	p.Q299*	ENST00000263346.8	37	c.895	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.846413	0.97016	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.3238	0.90246	0.0:1.0:0.0:0.0	.	.	.	.	X	299;64	.	ENSP00000263346:Q299X	Q	+	1	0	TCF25	88489013	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	6.829000	0.75314	2.568000	0.86640	0.561000	0.74099	CAA	TCF25	-	pfam_TCF25		0.592	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	C	NM_014972		89961512	+1	no_errors	ENST00000263346	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TCTE3	6991	genome.wustl.edu	37	6	170143221	170143221	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:170143221G>A	ENST00000366774.3	-	3	541	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	147					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		CTTTTATAATGAACTTATAAC	0.353																																																	0													91.0	105.0	100.0					6																	170143221		2202	4299	6501	SO:0001819	synonymous_variant	6991			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.441C>T	6.37:g.170143221G>A				Silent	SNP	pfam_Tctex	p.F147	ENST00000366774.3	37	c.441	CCDS5310.1	6																																																																																			TCTE3	-	pfam_Tctex		0.353	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	HGNC	protein_coding	OTTHUMT00000043243.1	G	NM_174910		170143221	-1	no_errors	ENST00000366774	ensembl	human	known	70_37	silent	SNP	0.997	A
TDRD1	56165	genome.wustl.edu	37	10	115947636	115947636	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr10:115947636G>A	ENST00000369280.1	+	2	506	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TDRD1_ENST00000369281.2_Missense_Mutation_p.E16K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E16K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Missense_Mutation_p.E16K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	16					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAATAATTTGGAAGCACCTCC	0.343																																																	0													114.0	124.0	121.0					10																	115947636		2203	4300	6503	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.46G>A	10.37:g.115947636G>A	ENSP00000358286:p.Glu16Lys		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.E16K	ENST00000369280.1	37	c.46		10	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065317	0.55432	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.58	4.67	0.58626	.	0.398265	0.23987	N	0.042616	T	0.37073	0.0990	L	0.32530	0.975	0.80722	D	1	P;P;P;P	0.49559	0.793;0.877;0.869;0.925	B;B;P;B	0.45276	0.283;0.339;0.475;0.443	T	0.23368	-1.0190	10	0.62326	D	0.03	-19.6238	12.3681	0.55240	0.0:0.1697:0.8303:0.0	.	16;16;16;16	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	K	16	ENSP00000358288:E16K;ENSP00000251864:E16K;ENSP00000358287:E16K;ENSP00000358286:E16K	ENSP00000251864:E16K	E	+	1	0	TDRD1	115937626	0.988000	0.35896	0.880000	0.34516	0.371000	0.29859	3.176000	0.50863	1.336000	0.45506	0.563000	0.77884	GAA	TDRD1	-	NULL		0.343	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	G			115947636	+1	no_errors	ENST00000251864	ensembl	human	known	70_37	missense	SNP	0.986	A
TENC1	23371	genome.wustl.edu	37	12	53454520	53454520	+	Missense_Mutation	SNP	G	G	A	rs151178618		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:53454520G>A	ENST00000314250.6	+	20	3120	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	TENC1_ENST00000549700.1_Missense_Mutation_p.E879K|TENC1_ENST00000314276.3_Missense_Mutation_p.E954K|TENC1_ENST00000379902.3_Missense_Mutation_p.E820K|TENC1_ENST00000546602.1_Missense_Mutation_p.E847K|TENC1_ENST00000552570.1_Missense_Mutation_p.E944K|TENC1_ENST00000451358.1_Missense_Mutation_p.E934K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	944	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GAGTCCTGGCGAGGCCTTGCC	0.677																																																	0								G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	36.0	37.0	37.0		2860,2830,2458	2.5	0.0	12	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense,missense	TENC1	NM_015319.2,NM_170754.2,NM_198316.1	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	954/1420,944/1410,820/1286	53454520	1,13005	2203	4300	6503	SO:0001583	missense	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2830G>A	12.37:g.53454520G>A	ENSP00000319684:p.Glu944Lys		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E954K	ENST00000314250.6	37	c.2860	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180786	0.09443	2.27E-4	0.0	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94376	-3.39;-3.39;-3.39;-3.38;-3.41;-3.38;-3.4	4.42	2.53	0.30540	.	0.827981	0.10969	N	0.614027	D	0.90625	0.7060	N	0.24115	0.695	0.09310	N	1	D;B;D;P	0.71674	0.998;0.0;0.997;0.944	P;B;P;B	0.56563	0.801;0.0;0.636;0.411	T	0.81143	-0.1067	10	0.33141	T	0.24	-3.4294	5.9645	0.19318	0.105:0.1936:0.7015:0.0	.	944;847;944;954	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	K	820;954;944;934;847;944;879	ENSP00000369232:E820K;ENSP00000319756:E954K;ENSP00000319684:E944K;ENSP00000393362:E934K;ENSP00000449363:E847K;ENSP00000447021:E944K;ENSP00000449361:E879K	ENSP00000319684:E944K	E	+	1	0	TENC1	51740787	0.147000	0.22687	0.017000	0.16124	0.853000	0.48598	0.520000	0.22878	0.588000	0.29660	0.462000	0.41574	GAG	TENC1	-	NULL		0.677	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	G	NM_170754		53454520	+1	no_errors	ENST00000314276	ensembl	human	known	70_37	missense	SNP	0.000	A
TLE2	7089	genome.wustl.edu	37	19	3005538	3005538	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:3005538G>A	ENST00000262953.6	-	17	2055	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	TLE2_ENST00000443826.3_Missense_Mutation_p.S476F|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.S612F|TLE2_ENST00000447365.2_Missense_Mutation_p.S265F|TLE2_ENST00000590536.1_Missense_Mutation_p.S599F|TLE2_ENST00000591529.1_Missense_Mutation_p.S612F|TLE2_ENST00000455444.2_Missense_Mutation_p.S476F	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	598					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCCGTAATCGGAAATATCAAT	0.652																																																	0													49.0	55.0	53.0					19																	3005538		2063	4222	6285	SO:0001583	missense	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1793C>T	19.37:g.3005538G>A	ENSP00000262953:p.Ser598Phe		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S598F	ENST00000262953.6	37	c.1793	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329754	0.60743	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.36	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.28396	-1.0045	10	0.87932	D	0	-13.2649	14.7483	0.69505	0.0:0.0:1.0:0.0	.	476;265;612;476;598	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	F	598;476;147;592;265;476;612	ENSP00000262953:S598F;ENSP00000413107:S476F;ENSP00000406523:S265F;ENSP00000392427:S476F;ENSP00000392869:S612F	ENSP00000262953:S598F	S	-	2	0	TLE2	2956538	1.000000	0.71417	0.813000	0.32504	0.156000	0.22039	9.586000	0.98226	2.424000	0.82194	0.462000	0.41574	TCC	TLE2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	G	NM_003260		3005538	-1	no_errors	ENST00000262953	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM41B	440026	genome.wustl.edu	37	11	9335975	9335975	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:9335975C>G	ENST00000528080.1	-	1	352	c.14G>C	c.(13-15)aGa>aCa	p.R5T	TMEM41B_ENST00000533723.1_Missense_Mutation_p.R5T|TMEM41B_ENST00000527813.1_Missense_Mutation_p.R5T	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	5					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCGGCGACTCTGCCTTTCGC	0.677																																																	0													30.0	22.0	25.0					11																	9335975		2171	4242	6413	SO:0001583	missense	440026			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.14G>C	11.37:g.9335975C>G	ENSP00000433126:p.Arg5Thr		D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	pfam_SNARE_assoc	p.R5T	ENST00000528080.1	37	c.14	CCDS31424.1	11	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941713	0.34283	.	.	ENSG00000166471	ENST00000299596;ENST00000528080;ENST00000527813;ENST00000533723	.	.	.	3.98	3.05	0.35203	.	0.122077	0.53938	D	0.000050	T	0.36963	0.0986	L	0.41236	1.265	0.30578	N	0.762814	B	0.06786	0.001	B	0.04013	0.001	T	0.43310	-0.9399	9	0.66056	D	0.02	-7.282	9.7	0.40180	0.0:0.7887:0.2113:0.0	.	5	Q5BJD5	TM41B_HUMAN	T	5	.	ENSP00000299596:R5T	R	-	2	0	TMEM41B	9292551	0.960000	0.32886	0.992000	0.48379	0.279000	0.26890	2.933000	0.48948	1.234000	0.43709	0.484000	0.47621	AGA	TMEM41B	-	NULL		0.677	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	HGNC	protein_coding	OTTHUMT00000385940.2	C			9335975	-1	no_errors	ENST00000299596	ensembl	human	known	70_37	missense	SNP	0.993	G
TMEM135	65084	genome.wustl.edu	37	11	87020555	87020555	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr11:87020555C>G	ENST00000305494.5	+	10	816	c.777C>G	c.(775-777)atC>atG	p.I259M	TMEM135_ENST00000535167.1_Missense_Mutation_p.I120M|TMEM135_ENST00000532959.1_Missense_Mutation_p.I130M|TMEM135_ENST00000340353.7_Missense_Mutation_p.I237M	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	259					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGTTTCATCAGAATGTTTA	0.383																																																	0													115.0	117.0	117.0					11																	87020555		2201	4299	6500	SO:0001583	missense	65084			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.777C>G	11.37:g.87020555C>G	ENSP00000306344:p.Ile259Met		Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	NULL	p.I259M	ENST00000305494.5	37	c.777	CCDS8280.1	11	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384348	0.61845	.	.	ENSG00000166575	ENST00000340353;ENST00000544294;ENST00000532959;ENST00000305494;ENST00000535167	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.78	5.78	0.91487	.	0.094021	0.64402	D	0.000001	T	0.40743	0.1129	M	0.62723	1.935	0.52501	D	0.99995	P;D	0.54397	0.928;0.966	P;P	0.54401	0.565;0.751	T	0.25117	-1.0141	9	.	.	.	-22.4517	7.2577	0.26185	0.1707:0.742:0.0:0.0873	.	237;259	Q86UB9-2;Q86UB9	.;TM135_HUMAN	M	237;96;130;259;120	ENSP00000345513:I237M;ENSP00000436179:I130M;ENSP00000306344:I259M;ENSP00000439525:I120M	.	I	+	3	3	TMEM135	86698203	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.330000	0.43885	2.732000	0.93576	0.591000	0.81541	ATC	TMEM135	-	NULL		0.383	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM135	HGNC	protein_coding	OTTHUMT00000393875.1	C	NM_022918		87020555	+1	no_errors	ENST00000305494	ensembl	human	known	70_37	missense	SNP	1.000	G
TOM1	10043	genome.wustl.edu	37	22	35719506	35719506	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:35719506C>T	ENST00000449058.2	+	5	509	c.384C>T	c.(382-384)ttC>ttT	p.F128F	TOM1_ENST00000425375.1_Intron|TOM1_ENST00000436462.2_Silent_p.F90F|TOM1_ENST00000411850.1_Silent_p.F128F|TOM1_ENST00000447733.1_Silent_p.F95F|TOM1_ENST00000382034.5_Silent_p.F61F	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	128	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTGACGCGTTCCGCAGCTCGC	0.607																																																	0													124.0	117.0	120.0					22																	35719506		2203	4300	6503	SO:0001819	synonymous_variant	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.384C>T	22.37:g.35719506C>T			B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.F128	ENST00000449058.2	37	c.384	CCDS13913.1	22																																																																																			TOM1	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS		0.607	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35719506	+1	no_errors	ENST00000411850	ensembl	human	known	70_37	silent	SNP	1.000	T
TOM1	10043	genome.wustl.edu	37	22	35719843	35719843	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:35719843C>T	ENST00000449058.2	+	6	709	c.584C>T	c.(583-585)gCt>gTt	p.A195V	TOM1_ENST00000425375.1_Missense_Mutation_p.A150V|TOM1_ENST00000436462.2_Missense_Mutation_p.A157V|TOM1_ENST00000411850.1_Missense_Mutation_p.A195V|TOM1_ENST00000447733.1_Missense_Mutation_p.A162V|TOM1_ENST00000382034.5_Missense_Mutation_p.A128V	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	195					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GGCCAGCATGCTGCCCCTCTG	0.602																																																	0													68.0	64.0	65.0					22																	35719843		2203	4300	6503	SO:0001583	missense	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.584C>T	22.37:g.35719843C>T	ENSP00000394466:p.Ala195Val		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.A195V	ENST00000449058.2	37	c.584	CCDS13913.1	22	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472188	0.26423	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;1.9;0.94;0.94	4.87	0.112	0.14623	.	1.098250	0.06913	N	0.807989	T	0.29783	0.0744	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.002;0.001	T	0.28522	-1.0041	10	0.40728	T	0.16	-0.0172	7.0782	0.25217	0.0:0.5829:0.2655:0.1516	.	150;157;204;195;195	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	V	162;189;195;195;150;204;157;128	ENSP00000398876:A162V;ENSP00000393714:A189V;ENSP00000394466:A195V;ENSP00000413697:A195V;ENSP00000394924:A150V;ENSP00000402556:A157V;ENSP00000371465:A128V	ENSP00000371465:A128V	A	+	2	0	TOM1	34049843	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.087000	0.30865	0.468000	0.27243	-0.175000	0.13238	GCT	TOM1	-	pirsf_TOM1		0.602	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35719843	+1	no_errors	ENST00000411850	ensembl	human	known	70_37	missense	SNP	0.000	T
TOM1	10043	genome.wustl.edu	37	22	35719851	35719851	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:35719851C>T	ENST00000449058.2	+	6	717	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	TOM1_ENST00000425375.1_Silent_p.L153L|TOM1_ENST00000436462.2_Silent_p.L160L|TOM1_ENST00000411850.1_Silent_p.L198L|TOM1_ENST00000447733.1_Silent_p.L165L|TOM1_ENST00000382034.5_Silent_p.L131L	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	198					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGCTGCCCCTCTGCCCGCCCC	0.617																																																	0													65.0	62.0	63.0					22																	35719851		2203	4300	6503	SO:0001819	synonymous_variant	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.592C>T	22.37:g.35719851C>T			B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.L198	ENST00000449058.2	37	c.592	CCDS13913.1	22																																																																																			TOM1	-	pirsf_TOM1		0.617	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TOM1	HGNC	protein_coding	OTTHUMT00000320641.1	C	NM_005488		35719851	+1	no_errors	ENST00000411850	ensembl	human	known	70_37	silent	SNP	0.532	T
TOPAZ1	375337	genome.wustl.edu	37	3	44283604	44283604	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:44283604G>A	ENST00000309765.4	+	1	227	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	20						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										GGCAATGTGCGAAACCTGCAG	0.711																																																	0													1.0	3.0	3.0					3																	44283604		448	1222	1670	SO:0001583	missense	375337			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.59G>A	3.37:g.44283604G>A	ENSP00000310303:p.Arg20Gln			Missense_Mutation	SNP	NULL	p.R20Q	ENST00000309765.4	37	c.59	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908832	0.33721	.	.	ENSG00000173769	ENST00000309765	T	0.13089	2.62	3.38	2.49	0.30216	.	0.446739	0.17586	N	0.168959	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	D	0.57899	0.981	B	0.42495	0.389	T	0.15150	-1.0447	10	0.87932	D	0	-0.9262	8.6752	0.34174	0.0:0.2349:0.7651:0.0	.	20	Q8N9V7	CC077_HUMAN	Q	20	ENSP00000310303:R20Q	ENSP00000310303:R20Q	R	+	2	0	C3orf77	44258608	0.001000	0.12720	0.004000	0.12327	0.005000	0.04900	0.411000	0.21115	0.970000	0.38263	0.591000	0.81541	CGA	TOPAZ1	-	NULL		0.711	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1	G	NM_001145030		44283604	+1	no_errors	ENST00000309765	ensembl	human	known	70_37	missense	SNP	0.005	A
TP53TG3D	729264	genome.wustl.edu	37	16	32264789	32264789	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:32264789G>C	ENST00000354614.3	+	1	128	c.115G>C	c.(115-117)Gac>Cac	p.D39H	RP11-56L13.7_ENST00000562604.1_RNA|TP53TG3D_ENST00000569631.1_Missense_Mutation_p.D39H|TP53TG3D_ENST00000398664.3_Missense_Mutation_p.D39H			Q9ULZ0	T53G3_HUMAN	TP53 target 3D	39						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACGGTTGAAGACGGTTCCGC	0.622																																																	0																																										SO:0001583	missense	729355				CCDS58456.1	16p11.2	2012-12-11			ENSG00000205456	ENSG00000205456			44657	protein-coding gene	gene with protein product							Standard	NM_001243722		Approved		uc021tgy.1	Q9ULZ0	OTTHUMG00000132469	ENST00000354614.3:c.115G>C	16.37:g.32264789G>C	ENSP00000454339:p.Asp39His		B2R5K6|Q4KN31|Q9ULY9	Missense_Mutation	SNP	NULL	p.D39H	ENST00000354614.3	37	c.115		16																																																																																			TP53TG3	-	NULL		0.622	TP53TG3D-201	KNOWN	basic|appris_candidate_longest	protein_coding	TP53TG3B	Uniprot_genename	protein_coding		G	NM_001243722		32264789	+1	no_errors	ENST00000354614	ensembl	human	known	70_37	missense	SNP	0.446	C
TP53TG5	27296	genome.wustl.edu	37	20	44002626	44002626	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44002626C>G	ENST00000372726.3	-	5	950	c.794G>C	c.(793-795)aGa>aCa	p.R265T	SYS1_ENST00000426004.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.R249T|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	265					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GCTCGCACCTCTGGCTCTCGT	0.582											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													134.0	110.0	118.0					20																	44002626		2203	4300	6503	SO:0001583	missense	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.794G>C	20.37:g.44002626C>G	ENSP00000361811:p.Arg265Thr	920		Missense_Mutation	SNP	NULL	p.R265T	ENST00000372726.3	37	c.794	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870299	0.33069	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.11604	2.77;2.76	4.27	1.18	0.20946	.	0.436987	0.17258	N	0.180883	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B	0.19583	0.037	B	0.18561	0.022	T	0.30592	-0.9973	10	0.51188	T	0.08	-1.0E-4	6.1791	0.20461	0.0:0.5282:0.3702:0.1016	.	265	Q9Y2B4	T53G5_HUMAN	T	265;249	ENSP00000361811:R265T;ENSP00000438374:R249T	ENSP00000361811:R265T	R	-	2	0	TP53TG5	43436040	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.054000	0.11826	0.310000	0.22990	0.655000	0.94253	AGA	TP53TG5	-	NULL		0.582	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	C	NM_014477		44002626	-1	no_errors	ENST00000372726	ensembl	human	known	70_37	missense	SNP	0.001	G
TRIM39	56658	genome.wustl.edu	37	6	30303588	30303588	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30303588G>A	ENST00000396547.1	+	4	776	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.E118K|TRIM39_ENST00000376659.5_Missense_Mutation_p.E206K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E206K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E206K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E206K|TRIM39_ENST00000396551.3_Missense_Mutation_p.E206K			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	206					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GCGGCTGGATGAAGAGCAGCA	0.532																																																	0													51.0	51.0	51.0					6																	30303588		1509	2708	4217	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.616G>A	6.37:g.30303588G>A	ENSP00000379796:p.Glu206Lys		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E206K	ENST00000396547.1	37	c.616	CCDS34377.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222148|4.222148	0.79464|0.79464	.|.	.|.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167|ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556|ENST00000420746	T;T;T;T;T;T;T;T|.	0.67171|.	3.38;-0.03;3.38;-0.25;3.38;3.38;-0.03;3.38|.	5.33|5.33	4.46|4.46	0.54185|0.54185	.|.	0.181659|.	0.36101|.	N|.	0.002798|.	T|T	0.36663|0.36663	0.0975|0.0975	L|L	0.42245|0.42245	1.32|1.32	0.32712|0.32712	N|N	0.511453|0.511453	B;B;B|.	0.28055|.	0.094;0.059;0.199|.	B;B;B|.	0.34180|.	0.031;0.036;0.177|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.31617|.	T|.	0.26|.	.|.	11.6627|11.6627	0.51356|0.51356	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	120;206;206|.	F5H2V3;Q9HCM9;Q9HCM9-2|.	.;TRI39_HUMAN;.|.	K|I	206;206;206;206;206;120;206;206;206;206;118|135	ENSP00000379800:E206K;ENSP00000365844:E206K;ENSP00000439400:E206K;ENSP00000406019:E206K;ENSP00000379797:E206K;ENSP00000365847:E206K;ENSP00000379796:E206K;ENSP00000424048:E118K|.	ENSP00000365844:E206K|.	E|M	+|+	1|3	0|0	TRIM39-RPP21;TRIM39|TRIM39	30411567|30411567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.976000|3.976000	0.56867|0.56867	1.465000|1.465000	0.48006|0.48006	0.650000|0.650000	0.86243|0.86243	GAA|ATG	TRIM39	-	NULL		0.532	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	G	NM_172016		30303588	+1	no_errors	ENST00000376656	ensembl	human	known	70_37	missense	SNP	1.000	A
TREML2	79865	genome.wustl.edu	37	6	41162210	41162210	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:41162210G>A	ENST00000483722.1	-	3	923	c.738C>T	c.(736-738)ctC>ctT	p.L246L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	246					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCTGCTGGTGAGGCAGAGCC	0.602																																																	0													81.0	84.0	83.0					6																	41162210		2203	4300	6503	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.738C>T	6.37:g.41162210G>A			Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.L246	ENST00000483722.1	37	c.738	CCDS4853.2	6																																																																																			TREML2	-	NULL		0.602	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	G	NM_024807		41162210	-1	no_errors	ENST00000483722	ensembl	human	known	70_37	silent	SNP	0.002	A
TROAP	10024	genome.wustl.edu	37	12	49717830	49717830	+	Intron	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:49717830G>A	ENST00000257909.3	+	3	413				TROAP_ENST00000380327.5_Intron|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_Nonsense_Mutation_p.W116*|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000549534.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGTACCTGTTGGAGCCATGGT	0.582																																																	0													63.0	65.0	64.0					12																	49717830		2203	4300	6503	SO:0001627	intron_variant	10024			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.337+10G>A	12.37:g.49717830G>A			F8VSF9|Q6PJU7|Q8N5B2	Nonsense_Mutation	SNP	NULL	p.W116*	ENST00000257909.3	37	c.347	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362189	0.61403	.	.	ENSG00000135451	ENST00000550709	.	.	.	5.77	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0534	0.36389	0.0:0.2368:0.497:0.2661	.	.	.	.	X	116	.	.	W	+	2	0	TROAP	48004097	0.002000	0.14202	0.004000	0.12327	0.700000	0.40528	0.367000	0.20382	0.336000	0.23639	0.655000	0.94253	TGG	TROAP	-	NULL		0.582	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	HGNC	protein_coding	OTTHUMT00000404300.1	G	NM_005480		49717830	+1	no_errors	ENST00000550709	ensembl	human	putative	70_37	nonsense	SNP	0.000	A
GNPTG	84572	genome.wustl.edu	37	16	1400917	1400917	+	5'Flank	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr16:1400917C>A	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Silent_p.G139G	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCAAGTGGCTCCCTCGCATCT	0.637																																																	0													79.0	74.0	76.0					16																	1400917		2199	4300	6499	SO:0001631	upstream_gene_variant	115939			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400917C>A	Exception_encountered		B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom	p.G139	ENST00000204679.4	37	c.417	CCDS10436.1	16																																																																																			TSR3	-	pfam_DUF367		0.637	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR3	HGNC	protein_coding	OTTHUMT00000109058.2	C	NM_032520		1400917	-1	no_errors	ENST00000007390	ensembl	human	known	70_37	silent	SNP	0.000	A
TTC21A	199223	genome.wustl.edu	37	3	39166554	39166554	+	Splice_Site	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:39166554G>T	ENST00000431162.2	+	10	1252	c.1118G>T	c.(1117-1119)gGg>gTg	p.G373V	TTC21A_ENST00000301819.6_Splice_Site_p.G373V|TTC21A_ENST00000440121.1_Splice_Site_p.G324V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	373										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCATTTACAGGGATCATCTTG	0.502											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													107.0	103.0	105.0					3																	39166554		2051	4212	6263	SO:0001630	splice_region_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.1118-1G>T	3.37:g.39166554G>T		883	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G373V	ENST00000431162.2	37	c.1118	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511923	0.85389	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.54675	1.17;0.56;0.56	5.79	5.79	0.91817	.	0.166783	0.42682	D	0.000675	T	0.75354	0.3838	M	0.83223	2.63	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71870	0.975;0.975;0.945	T	0.76326	-0.3000	9	.	.	.	.	18.7986	0.92007	0.0:0.0:1.0:0.0	.	324;373;373	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	V	373;365;373;324	ENSP00000301819:G373V;ENSP00000398211:G373V;ENSP00000410882:G324V	.	G	+	2	0	TTC21A	39141558	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.564000	0.90726	2.744000	0.94065	0.650000	0.86243	GGG	TTC21A	-	NULL		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	G	NM_145755	Missense_Mutation	39166554	+1	no_errors	ENST00000301819	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179451935	179451935	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:179451935C>G	ENST00000591111.1	-	257	59304	c.59080G>C	c.(59080-59082)Gag>Cag	p.E19694Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12462Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12270Q|TTN_ENST00000359218.5_Missense_Mutation_p.E12395Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21335Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18767Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19694	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATACTCATTCCCAGGG	0.453																																																	0													168.0	169.0	169.0					2																	179451935		1943	4140	6083	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59080G>C	2.37:g.179451935C>G	ENSP00000465570:p.Glu19694Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E18767Q	ENST00000591111.1	37	c.56299		2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889942	0.91889	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71978	0.3404	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.71928	-0.4444	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12270;12395;12462;19694	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18767;12270;12462;12395;12268	ENSP00000343764:E18767Q;ENSP00000434586:E12270Q;ENSP00000340554:E12462Q;ENSP00000352154:E12395Q	ENSP00000340554:E12462Q	E	-	1	0	TTN	179160181	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.025000	0.70864	2.835000	0.97688	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179451935	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179460339	179460339	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:179460339G>A	ENST00000591111.1	-	245	53043	c.52819C>T	c.(52819-52821)Ctc>Ttc	p.L17607F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10375F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10183F|TTN_ENST00000359218.5_Missense_Mutation_p.L10308F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L19248F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16680F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17607	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGAATGAGACCCTGGACA	0.448																																																	0													58.0	54.0	55.0					2																	179460339		1872	4121	5993	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52819C>T	2.37:g.179460339G>A	ENSP00000465570:p.Leu17607Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L16680F	ENST00000591111.1	37	c.50038		2	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186564	0.57909	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94427	0.8207	H	0.95712	3.71	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95283	0.8388	9	0.87932	D	0	.	13.4717	0.61285	0.0712:0.0:0.9288:0.0	.	10183;10308;10375;17607	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	16680;10183;10375;10308;10181	ENSP00000343764:L16680F;ENSP00000434586:L10183F;ENSP00000340554:L10375F;ENSP00000352154:L10308F	ENSP00000340554:L10375F	L	-	1	0	TTN	179168585	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.761000	0.74945	2.808000	0.96608	0.650000	0.86243	CTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179460339	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TUBB	203068	genome.wustl.edu	37	6	30691295	30691295	+	Silent	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr6:30691295C>T	ENST00000327892.8	+	4	762	c.456C>T	c.(454-456)atC>atT	p.I152I	TUBB_ENST00000396384.1_Silent_p.I80I|TUBB_ENST00000330914.3_Silent_p.I80I|TUBB_ENST00000396389.1_Silent_p.I134I|TUBB_ENST00000435534.1_Intron|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	152					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CTCTCCTTATCAGCAAGATCC	0.567																																																	0													71.0	68.0	69.0					6																	30691295		2203	4300	6503	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.456C>T	6.37:g.30691295C>T			P05218|Q8WUC1|Q9CY33	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.I152	ENST00000327892.8	37	c.456	CCDS4687.1	6																																																																																			TUBB	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin		0.567	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	C	NM_178014		30691295	+1	no_errors	ENST00000327892	ensembl	human	known	70_37	silent	SNP	1.000	T
UCKL1	54963	genome.wustl.edu	37	20	62572429	62572429	+	Intron	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:62572429C>T	ENST00000354216.6	-	9	1065				MIR647_ENST00000384823.1_RNA|MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000358711.3_Missense_Mutation_p.A347T|UCKL1_ENST00000369892.3_Intron|UCKL1_ENST00000369908.5_Intron	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAGCACGCGCCCGGGGCCGC	0.667																																																	0													25.0	22.0	23.0					20																	62572429		2178	4283	6461	SO:0001627	intron_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1022+33G>A	20.37:g.62572429C>T			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.A347T	ENST00000354216.6	37	c.1039	CCDS13547.1	20	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883036	0.51908	.	.	ENSG00000198276	ENST00000358711	.	.	.	4.2	-0.219	0.13135	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26360	-1.0105	4	.	.	.	.	4.658	0.12628	0.0:0.5591:0.1585:0.2824	.	.	.	.	T	347	.	.	A	-	1	0	UCKL1	62042873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.731000	0.04909	-0.115000	0.11915	-0.463000	0.05309	GCG	UCKL1	-	NULL		0.667	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	C	NM_017859		62572429	-1	no_errors	ENST00000358711	ensembl	human	known	70_37	missense	SNP	0.000	T
USH2A	7399	genome.wustl.edu	37	1	216138803	216138803	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:216138803C>G	ENST00000307340.3	-	37	7362	c.6976G>C	c.(6976-6978)Gaa>Caa	p.E2326Q	USH2A_ENST00000366943.2_Missense_Mutation_p.E2326Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2326	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGGAGCTTCTAGAGTTCGA	0.398										HNSCC(13;0.011)																																							0													118.0	117.0	118.0					1																	216138803		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6976G>C	1.37:g.216138803C>G	ENSP00000305941:p.Glu2326Gln		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E2326Q	ENST00000307340.3	37	c.6976	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397723	0.83120	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55760	0.5;0.5	5.23	5.23	0.72850	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000317	T	0.69797	0.3151	L	0.59912	1.85	0.51233	D	0.999914	D	0.89917	1.0	D	0.83275	0.996	T	0.65869	-0.6063	10	0.33141	T	0.24	.	19.197	0.93693	0.0:1.0:0.0:0.0	.	2326	O75445	USH2A_HUMAN	Q	2326	ENSP00000305941:E2326Q;ENSP00000355910:E2326Q	ENSP00000305941:E2326Q	E	-	1	0	USH2A	214205426	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	6.154000	0.71826	2.605000	0.88082	0.655000	0.94253	GAA	USH2A	-	superfamily_Fibronectin_type3		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216138803	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.998	G
USO1	8615	genome.wustl.edu	37	4	76721919	76721919	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr4:76721919C>T	ENST00000538159.1	+	17	1858	c.1858C>T	c.(1858-1860)Cat>Tat	p.H620Y	USO1_ENST00000514213.2_Missense_Mutation_p.H596Y			O60763	USO1_HUMAN	USO1 vesicle transport factor	611	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATATTTGATCATGAGTTTAC	0.323																																																	0													69.0	65.0	66.0					4																	76721919		1817	4079	5896	SO:0001583	missense	8615			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1858C>T	4.37:g.76721919C>T	ENSP00000440586:p.His620Tyr		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.H620Y	ENST00000538159.1	37	c.1858		4	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735046	0.48939	.	.	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.	.	.	5.54	5.54	0.83059	Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	N	0.17631	0.505	0.80722	D	1	B;P	0.34684	0.178;0.463	B;B	0.38655	0.076;0.278	T	0.37979	-0.9682	9	0.02654	T	1	.	19.4719	0.94966	0.0:1.0:0.0:0.0	.	620;611	F5GYR8;O60763	.;USO1_HUMAN	Y	446;620;596;539	.	ENSP00000264904:H539Y	H	+	1	0	USO1	76940943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.614000	0.88457	0.455000	0.32223	CAT	USO1	-	pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold		0.323	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		C	NM_003715		76721919	+1	no_errors	ENST00000538159	ensembl	human	known	70_37	missense	SNP	1.000	T
USP29	57663	genome.wustl.edu	37	19	57641166	57641166	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:57641166G>T	ENST00000254181.4	+	4	1577	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E375*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	375	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATGCTCATGAGTTTTTAGG	0.363																																																	0													56.0	57.0	56.0					19																	57641166		2203	4299	6502	SO:0001587	stop_gained	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1123G>T	19.37:g.57641166G>T	ENSP00000254181:p.Glu375*			Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E375*	ENST00000254181.4	37	c.1123	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	38	7.196289	0.98129	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.69	2.69	0.31865	.	0.000000	0.45867	U	0.000328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7888	11.5376	0.50648	0.0:0.0:1.0:0.0	.	.	.	.	X	375	.	ENSP00000254181:E375X	E	+	1	0	USP29	62332978	1.000000	0.71417	0.994000	0.49952	0.478000	0.33099	5.802000	0.69122	1.767000	0.52121	0.591000	0.81541	GAG	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57641166	+1	no_errors	ENST00000254181	ensembl	human	known	70_37	nonsense	SNP	1.000	T
USP29	57663	genome.wustl.edu	37	19	57641463	57641463	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:57641463G>C	ENST00000254181.4	+	4	1874	c.1420G>C	c.(1420-1422)Gat>Cat	p.D474H	USP29_ENST00000598197.1_Missense_Mutation_p.D474H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	474	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTCTTTAGATCTTTTCTT	0.388																																																	0													101.0	104.0	103.0					19																	57641463		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1420G>C	19.37:g.57641463G>C	ENSP00000254181:p.Asp474His			Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.D474H	ENST00000254181.4	37	c.1420	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	9.917	1.211085	0.22289	.	.	ENSG00000131864	ENST00000254181	T	0.75589	-0.95	2.57	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.617419	0.13328	U	0.396148	D	0.84745	0.5540	M	0.77616	2.38	0.32672	N	0.516718	D	0.89917	1.0	D	0.83275	0.996	D	0.85817	0.1383	10	0.72032	D	0.01	-14.0608	11.279	0.49184	0.0:0.0:1.0:0.0	.	474	Q9HBJ7	UBP29_HUMAN	H	474	ENSP00000254181:D474H	ENSP00000254181:D474H	D	+	1	0	USP29	62333275	1.000000	0.71417	0.088000	0.20740	0.017000	0.09413	4.769000	0.62300	1.705000	0.51264	0.591000	0.81541	GAT	USP29	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.388	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57641463	+1	no_errors	ENST00000254181	ensembl	human	known	70_37	missense	SNP	0.951	C
USP34	9736	genome.wustl.edu	37	2	61647956	61647956	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr2:61647956T>C	ENST00000398571.2	-	2	132	c.56A>G	c.(55-57)gAa>gGa	p.E19G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	19					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCACCACCTTCTACATCTGA	0.323																																																	0													105.0	99.0	101.0					2																	61647956		1835	4094	5929	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.56A>G	2.37:g.61647956T>C	ENSP00000381577:p.Glu19Gly		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E19G	ENST00000398571.2	37	c.56	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261445	0.59431	.	.	ENSG00000115464	ENST00000398571	T	0.03831	3.79	5.75	5.75	0.90469	.	.	.	.	.	T	0.13628	0.0330	L	0.38175	1.15	0.39862	D	0.973396	D	0.57899	0.981	D	0.65140	0.932	T	0.01232	-1.1411	9	0.72032	D	0.01	.	15.7012	0.77544	0.0:0.0:0.0:1.0	.	19	Q70CQ2	UBP34_HUMAN	G	19	ENSP00000381577:E19G	ENSP00000381577:E19G	E	-	2	0	USP34	61501460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.887000	0.69751	2.194000	0.70268	0.482000	0.46254	GAA	USP34	-	NULL		0.323	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	T			61647956	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS13A	23230	genome.wustl.edu	37	9	79980379	79980379	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:79980379G>A	ENST00000360280.3	+	60	8475	c.8215G>A	c.(8215-8217)Gag>Aag	p.E2739K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E2700K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E2739K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E2739K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2739					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTATAGGTTGAGCTTTTTCA	0.308																																																	0													68.0	68.0	68.0					9																	79980379		2201	4298	6499	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8215G>A	9.37:g.79980379G>A	ENSP00000353422:p.Glu2739Lys		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E2739K	ENST00000360280.3	37	c.8215	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369424	0.42003	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.47528	1.02;0.84;0.93;1.02	5.54	5.54	0.83059	.	0.167681	0.51477	D	0.000085	T	0.47619	0.1455	L	0.46157	1.445	0.80722	D	1	B;P;P;P	0.41232	0.012;0.485;0.743;0.619	B;B;B;B	0.43331	0.037;0.142;0.416;0.276	T	0.35674	-0.9779	9	.	.	.	.	16.4741	0.84127	0.0:0.1308:0.8691:0.0	.	2700;2739;2739;2739	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	2739;2700;2739;2739	ENSP00000365821:E2739K;ENSP00000365823:E2700K;ENSP00000353422:E2739K;ENSP00000349985:E2739K	.	E	+	1	0	VPS13A	79170199	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.395000	0.59678	2.592000	0.87571	0.650000	0.86243	GAG	VPS13A	-	NULL		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79980379	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	A
VTRNA2-1	100126299	genome.wustl.edu	37	5	135416214	135416214	+	lincRNA	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr5:135416214C>T	ENST00000602301.1	-	0	72					NR_030583.2				vault RNA 2-1																		CCGCGGGTCTCGAACCCCAGC	0.458																																																	0													60.0	57.0	58.0					5																	135416214		1568	3582	5150			100126299					5q31.1	2013-05-03	2011-04-11	2011-04-11	ENSG00000202030	ENSG00000270123		"""Vault RNAs (vtRNAs)"""	37054	non-coding RNA	RNA, vault		614938	"""microRNA 886"", ""vault RNA 2"""	MIR886, MIRN886, VTRNA2		19298825, 19491402, 22926522, 22058117	Standard	NR_030583		Approved	vtRNA2, hvg-5, CBL-3, hsa-mir-886, nc886	uc021ydy.1				5.37:g.135416214C>T				RNA	SNP	-	NULL	ENST00000602301.1	37	NULL		5																																																																																			VTRNA2-1	-	-		0.458	VTRNA2-1-001	KNOWN	basic	lincRNA	VTRNA2-1	HGNC	lincRNA	OTTHUMT00000467708.1	C	NR_030583		135416214	-1	no_errors	ENST00000365160	ensembl	human	known	70_37	rna	SNP	0.998	T
WBSCR17	64409	genome.wustl.edu	37	7	70885922	70885922	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr7:70885922G>A	ENST00000333538.5	+	5	1427	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	265					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGCATCCAGGAAAACCGGAA	0.542																																																	0													195.0	183.0	187.0					7																	70885922		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.793G>A	7.37:g.70885922G>A	ENSP00000329654:p.Glu265Lys		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E265K	ENST00000333538.5	37	c.793	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877498	0.91664	.	.	ENSG00000185274	ENST00000333538	T	0.59638	0.25	5.27	4.39	0.52855	Glycosyl transferase, family 2 (1);	0.050014	0.85682	D	0.000000	T	0.71065	0.3296	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72636	-0.4233	10	0.56958	D	0.05	.	12.9124	0.58187	0.078:0.0:0.922:0.0	.	265	Q6IS24	GLTL3_HUMAN	K	265	ENSP00000329654:E265K	ENSP00000329654:E265K	E	+	1	0	WBSCR17	70523858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.529000	0.81952	1.223000	0.43536	0.650000	0.86243	GAA	WBSCR17	-	pfam_Glyco_trans_2		0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		70885922	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR64	128025	genome.wustl.edu	37	1	241904939	241904939	+	Silent	SNP	C	C	T	rs374361180		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr1:241904939C>T	ENST00000366552.2	+	11	1620	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	WDR64_ENST00000437684.2_Silent_p.L471L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	471										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ATCAAGTACTCACTATCTGCT	0.323																																																	0								C		0,4404		0,0,2202	110.0	101.0	104.0		1413	0.8	1.0	1		104	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	WDR64	NM_144625.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		471/1082	241904939	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1413C>T	1.37:g.241904939C>T			B1ANT0|Q7Z573|Q96LY9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L471	ENST00000366552.2	37	c.1413		1																																																																																			WDR64	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.323	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		C	NM_144625		241904939	+1	no_errors	ENST00000366552	ensembl	human	known	70_37	silent	SNP	0.997	T
ZBED4	9889	genome.wustl.edu	37	22	50278464	50278464	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr22:50278464C>T	ENST00000216268.5	+	2	1631	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	385						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCCCTTCGGCCTCCTCC	0.612																																																	0													51.0	56.0	54.0					22																	50278464		2203	4299	6502	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1154C>T	22.37:g.50278464C>T	ENSP00000216268:p.Ser385Leu		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S385L	ENST00000216268.5	37	c.1154	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135570	0.37728	.	.	ENSG00000100426	ENST00000216268	T	0.41065	1.01	5.18	5.18	0.71444	.	0.385307	0.27327	N	0.019870	T	0.42177	0.1191	L	0.54323	1.7	0.21445	N	0.999686	B	0.26809	0.16	B	0.17722	0.019	T	0.40590	-0.9555	10	0.59425	D	0.04	-14.1376	18.8805	0.92354	0.0:1.0:0.0:0.0	.	385	O75132	ZBED4_HUMAN	L	385	ENSP00000216268:S385L	ENSP00000216268:S385L	S	+	2	0	ZBED4	48664468	0.176000	0.23096	0.081000	0.20488	0.039000	0.13416	1.874000	0.39568	2.707000	0.92482	0.655000	0.94253	TCG	ZBED4	-	NULL		0.612	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	C	NM_014838		50278464	+1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	0.170	T
ZBTB6	10773	genome.wustl.edu	37	9	125673645	125673645	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:125673645G>A	ENST00000373659.3	-	2	795	c.707C>T	c.(706-708)tCa>tTa	p.S236L		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ACAAGGCTGTGAAAACTGCCC	0.413																																																	0													69.0	66.0	67.0					9																	125673645		2203	4300	6503	SO:0001583	missense	10773			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.707C>T	9.37:g.125673645G>A	ENSP00000362763:p.Ser236Leu		A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S236L	ENST00000373659.3	37	c.707	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	G	8.862	0.947166	0.18356	.	.	ENSG00000186130	ENST00000373659	T	0.09073	3.02	6.17	6.17	0.99709	.	0.828607	0.10999	N	0.610733	T	0.12347	0.0300	L	0.43152	1.355	0.34204	D	0.673496	B	0.02656	0.0	B	0.01281	0.0	T	0.22695	-1.0209	10	0.33141	T	0.24	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	236	Q15916	ZBTB6_HUMAN	L	236	ENSP00000362763:S236L	ENSP00000362763:S236L	S	-	2	0	ZBTB6	124713466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.565000	0.73974	2.941000	0.99782	0.655000	0.94253	TCA	ZBTB6	-	NULL		0.413	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	G	NM_006626		125673645	-1	no_errors	ENST00000373659	ensembl	human	known	70_37	missense	SNP	0.999	A
ZCCHC8	55596	genome.wustl.edu	37	12	122968017	122968017	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr12:122968017C>T	ENST00000336229.4	-	6	725	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	ZCCHC8_ENST00000536306.1_Intron|ZCCHC8_ENST00000543897.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	199					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGGGTATTTCCCATCCTTCG	0.378																																																	0													81.0	71.0	74.0					12																	122968017		1827	4084	5911	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.595G>A	12.37:g.122968017C>T	ENSP00000337313:p.Glu199Lys		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.E199K	ENST00000336229.4	37	c.595		12	.	.	.	.	.	.	.	.	.	.	C	32	5.170572	0.94807	.	.	ENSG00000033030	ENST00000336229	T	0.50277	0.75	6.03	5.14	0.70334	.	0.182541	0.64402	D	0.000017	T	0.50051	0.1593	M	0.67953	2.075	0.47737	D	0.9995	B	0.32573	0.376	B	0.32149	0.141	T	0.54268	-0.8319	10	0.66056	D	0.02	-26.5155	17.1032	0.86655	0.0:0.8732:0.1268:0.0	.	199	Q6NZY4	ZCHC8_HUMAN	K	199	ENSP00000337313:E199K	ENSP00000337313:E199K	E	-	1	0	ZCCHC8	121533970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.714000	0.68422	1.548000	0.49413	0.557000	0.71058	GAA	ZCCHC8	-	NULL		0.378	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		C	NM_017612		122968017	-1	no_errors	ENST00000336229	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFAND5	7763	genome.wustl.edu	37	9	74969854	74969854	+	3'UTR	SNP	C	C	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr9:74969854C>A	ENST00000237937.3	-	0	2214				ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_3'UTR|ZFAND5_ENST00000376960.4_3'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5						face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AAGCAGCCCTCTGCAAGTGGT	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.*1015G>T	9.37:g.74969854C>A			A8K484	RNA	SNP	-	NULL	ENST00000237937.3	37	NULL	CCDS6642.1	9																																																																																			ZFAND5	-	-		0.413	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND5	HGNC	protein_coding	OTTHUMT00000052644.1	C			74969854	-1	no_errors	ENST00000488164	ensembl	human	known	70_37	rna	SNP	1.000	A
ZFAT	57623	genome.wustl.edu	37	8	135614806	135614806	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr8:135614806C>T	ENST00000377838.3	-	6	1330	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ZFAT_ENST00000520214.1_Missense_Mutation_p.E374K|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520356.1_Missense_Mutation_p.E374K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E324K|ZFAT_ENST00000520727.1_Missense_Mutation_p.E374K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E374K	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	386					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCAAGGCCTCTTTGACCTTC	0.562																																																	0													69.0	71.0	70.0					8																	135614806		2108	4230	6338	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1156G>A	8.37:g.135614806C>T	ENSP00000367069:p.Glu386Lys		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E386K	ENST00000377838.3	37	c.1156	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382969	0.61845	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.09723	3.02;2.95;2.96;2.96;2.95;2.98	5.74	5.74	0.90152	.	0.199842	0.43747	D	0.000539	T	0.20414	0.0491	N	0.24115	0.695	0.49798	D	0.999821	P;D;P;P	0.76494	0.947;0.999;0.952;0.651	B;D;P;B	0.65684	0.293;0.937;0.6;0.115	T	0.02075	-1.1218	10	0.32370	T	0.25	-40.8073	18.9218	0.92528	0.0:1.0:0.0:0.0	.	324;374;374;386	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	K	374;374;374;386;374;374;324;374	ENSP00000427879:E374K;ENSP00000427831:E374K;ENSP00000394501:E374K;ENSP00000367069:E386K;ENSP00000428483:E374K;ENSP00000429091:E324K	ENSP00000326997:E374K	E	-	1	0	ZFAT	135683988	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.673000	0.54591	2.717000	0.92951	0.563000	0.77884	GAG	ZFAT	-	NULL		0.562	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	C	NM_001029939		135614806	-1	no_errors	ENST00000377838	ensembl	human	known	70_37	missense	SNP	0.996	T
ZNF157	7712	genome.wustl.edu	37	X	47270144	47270144	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chrX:47270144G>C	ENST00000377073.3	+	3	351	c.265G>C	c.(265-267)Gag>Cag	p.E89Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GTGGATATTAGAGGAGGAATC	0.498																																																	0													68.0	53.0	58.0					X																	47270144		2203	4299	6502	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.265G>C	X.37:g.47270144G>C	ENSP00000366273:p.Glu89Gln		Q96LE9	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.E89Q	ENST00000377073.3	37	c.265	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198584	0.58126	.	.	ENSG00000147117	ENST00000377073	T	0.08193	3.12	3.12	3.12	0.35913	Krueppel-associated box (1);	.	.	.	.	T	0.10165	0.0249	L	0.42744	1.35	0.24330	N	0.995003	D	0.55172	0.97	P	0.45998	0.5	T	0.21348	-1.0248	9	0.28530	T	0.3	.	11.4162	0.49954	0.0:0.0:1.0:0.0	.	89	P51786	ZN157_HUMAN	Q	89	ENSP00000366273:E89Q	ENSP00000366273:E89Q	E	+	1	0	ZNF157	47155088	1.000000	0.71417	0.972000	0.41901	0.968000	0.65278	3.984000	0.56923	1.825000	0.53177	0.500000	0.49745	GAG	ZNF157	-	pfscan_Krueppel-associated_box		0.498	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47270144	+1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF222	7673	genome.wustl.edu	37	19	44537136	44537136	+	Missense_Mutation	SNP	C	C	T	rs376038651		TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:44537136C>T	ENST00000187879.8	+	4	1471	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	ZNF222_ENST00000391960.3_Missense_Mutation_p.R477C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	437					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(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTACAAGAGGCGCTTGAATCT	0.363																																																	0													48.0	50.0	49.0					19																	44537136		2203	4300	6503	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1309C>T	19.37:g.44537136C>T	ENSP00000187879:p.Arg437Cys		G5E9B9|Q8N6G7|Q9P1U5	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.R477C	ENST00000187879.8	37	c.1429	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426019	0.43020	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.06768	3.26;3.33	2.31	-0.437	0.12272	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14743	0.0356	L	0.46947	1.48	0.09310	N	1	D;D	0.89917	1.0;0.998	P;P	0.62184	0.899;0.772	T	0.15378	-1.0439	9	0.54805	T	0.06	.	5.0438	0.14473	0.2809:0.5443:0.0:0.1748	.	477;437	G5E9B9;Q9UK12	.;ZN222_HUMAN	C	477;437;383	ENSP00000375822:R477C;ENSP00000187879:R437C	ENSP00000187879:R437C	R	+	1	0	ZNF222	49228976	0.000000	0.05858	0.002000	0.10522	0.533000	0.34776	-0.067000	0.11579	0.122000	0.18314	0.205000	0.17691	CGC	ZNF222	-	NULL		0.363	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	C			44537136	+1	no_errors	ENST00000391960	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF335	63925	genome.wustl.edu	37	20	44577657	44577657	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44577657C>T	ENST00000322927.2	-	28	4064	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	ZNF335_ENST00000426788.1_Missense_Mutation_p.E1167K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1322	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGAATGTGTTCGGGCACTGTC	0.607																																																	0													88.0	76.0	80.0					20																	44577657		2203	4300	6503	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3964G>A	20.37:g.44577657C>T	ENSP00000325326:p.Glu1322Lys		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1322K	ENST00000322927.2	37	c.3964	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884771	0.91814	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.17370	2.46;2.28	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	T	0.04307	-1.0961	10	0.87932	D	0	-17.9919	15.6018	0.76631	0.0:1.0:0.0:0.0	.	1167;1322	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	K	1322;1099;1167	ENSP00000325326:E1322K;ENSP00000397098:E1167K	ENSP00000243961:E1099K	E	-	1	0	ZNF335	44011064	0.971000	0.33674	0.994000	0.49952	0.951000	0.60555	3.010000	0.49559	2.438000	0.82558	0.561000	0.74099	GAA	ZNF335	-	NULL		0.607	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44577657	-1	no_errors	ENST00000322927	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF433	163059	genome.wustl.edu	37	19	12127285	12127285	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:12127285C>G	ENST00000344980.6	-	4	567	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	ZNF433_ENST00000419886.2_Missense_Mutation_p.E98Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCTTGATACTCATATGCCTTG	0.398																																																	0													108.0	112.0	111.0					19																	12127285		2185	4292	6477	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.397G>C	19.37:g.12127285C>G	ENSP00000339767:p.Glu133Gln		Q86VX3	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.E133Q	ENST00000344980.6	37	c.397	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514103	0.27123	.	.	ENSG00000197647	ENST00000419886;ENST00000344980;ENST00000550507;ENST00000455504;ENST00000552904	T;T;T;T;T	0.35973	1.28;1.28;1.28;5.87;2.41	1.19	-2.27	0.06846	.	.	.	.	.	T	0.30634	0.0771	L	0.28192	0.835	0.09310	N	1	D	0.56287	0.975	P	0.56648	0.803	T	0.14699	-1.0463	9	0.34782	T	0.22	.	2.711	0.05174	0.0:0.2994:0.2595:0.441	.	133	Q8N7K0	ZN433_HUMAN	Q	98;133;130;144;98	ENSP00000393416:E98Q;ENSP00000339767:E133Q;ENSP00000448099:E130Q;ENSP00000414857:E144Q;ENSP00000448233:E98Q	ENSP00000339767:E133Q	E	-	1	0	ZNF433	11988285	.	.	0.000000	0.03702	0.189000	0.23516	.	.	-0.546000	0.06216	0.306000	0.20318	GAG	ZNF433	-	NULL		0.398	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12127285	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF594	84622	genome.wustl.edu	37	17	5085838	5085838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr17:5085838G>A	ENST00000399604.4	-	1	1854	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.Q572*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTACCACACTGATTACACCAA	0.443																																																	0													142.0	133.0	136.0					17																	5085838		1996	4191	6187	SO:0001587	stop_gained	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1714C>T	17.37:g.5085838G>A	ENSP00000382513:p.Gln572*		Q6RFS0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q572*	ENST00000399604.4	37	c.1714	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	g	18.87	3.716095	0.68844	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	.	.	.	0.972	0.972	0.19704	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.1589	0.10273	0.0:0.0:0.6013:0.3987	.	.	.	.	X	572;167	.	ENSP00000373874:Q167X	Q	-	1	0	ZNF594	5026562	0.000000	0.05858	0.007000	0.13788	0.088000	0.18126	-1.008000	0.03663	0.443000	0.26582	0.184000	0.17185	CAG	ZNF594	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	G	XM_290737		5085838	-1	no_errors	ENST00000399604	ensembl	human	known	70_37	nonsense	SNP	0.007	A
ZNF790	388536	genome.wustl.edu	37	19	37310810	37310810	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr19:37310810C>T	ENST00000356725.4	-	5	556	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	146					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCCTTTTTTCACAGGTGCGT	0.398																																																	0													141.0	136.0	137.0					19																	37310810		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.436G>A	19.37:g.37310810C>T	ENSP00000349161:p.Glu146Lys			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.E146K	ENST00000356725.4	37	c.436	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845144	0.32606	.	.	ENSG00000197863	ENST00000356725;ENST00000528994	T;T	0.04970	3.52;6.31	3.2	2.15	0.27550	.	.	.	.	.	T	0.04952	0.0133	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45396	-0.9264	9	0.15499	T	0.54	.	5.9632	0.19310	0.0:0.6932:0.1938:0.113	.	146	Q6PG37	ZN790_HUMAN	K	146	ENSP00000349161:E146K;ENSP00000435944:E146K	ENSP00000349161:E146K	E	-	1	0	ZNF790	42002650	0.021000	0.18746	0.127000	0.21898	0.062000	0.15995	1.222000	0.32515	0.666000	0.31087	0.491000	0.48974	GAA	ZNF790	-	NULL		0.398	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	C	NM_206894		37310810	-1	no_errors	ENST00000356725	ensembl	human	known	70_37	missense	SNP	0.189	T
ZSWIM3	140831	genome.wustl.edu	37	20	44506247	44506247	+	Silent	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44506247C>G	ENST00000255152.2	+	2	1259	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	ZSWIM3_ENST00000454862.2_Silent_p.L344L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	350							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGAAAAATCTCTGCCAGATGT	0.512																																																	0													75.0	76.0	76.0					20																	44506247		2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1050C>G	20.37:g.44506247C>G			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.L350	ENST00000255152.2	37	c.1050	CCDS13381.1	20																																																																																			ZSWIM3	-	NULL		0.512	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	C	NM_080752		44506247	+1	no_errors	ENST00000255152	ensembl	human	known	70_37	silent	SNP	0.999	G
ZSWIM3	140831	genome.wustl.edu	37	20	44507087	44507087	+	Silent	SNP	C	C	G			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr20:44507087C>G	ENST00000255152.2	+	2	2099	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	ZSWIM1_ENST00000372520.1_5'Flank|ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM3_ENST00000454862.2_Silent_p.L624L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	630							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CAAACCTGCTCATGCAGACCG	0.577																																																	0													134.0	117.0	122.0					20																	44507087		2203	4300	6503	SO:0001819	synonymous_variant	140831			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1890C>G	20.37:g.44507087C>G			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.L630	ENST00000255152.2	37	c.1890	CCDS13381.1	20																																																																																			ZSWIM3	-	NULL		0.577	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	C	NM_080752		44507087	+1	no_errors	ENST00000255152	ensembl	human	known	70_37	silent	SNP	0.491	G
ZXDC	79364	genome.wustl.edu	37	3	126193878	126193878	+	Silent	SNP	G	G	A			TCGA-C5-A7UH-01A-11D-A351-09	TCGA-C5-A7UH-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7d3b5119-2267-4a8b-a4af-47af3471c597	c0518dec-272d-459f-a57b-10a2a577dc1c	g.chr3:126193878G>A	ENST00000389709.3	-	1	884	c.831C>T	c.(829-831)ttC>ttT	p.F277F	ZXDC_ENST00000336332.5_Silent_p.F277F	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	277					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CGTGCGTGGGGAAGCGCTCGG	0.637																																																	0													21.0	24.0	23.0					3																	126193878		2195	4300	6495	SO:0001819	synonymous_variant	79364			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.831C>T	3.37:g.126193878G>A			C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F277	ENST00000389709.3	37	c.831	CCDS43145.1	3																																																																																			ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	G	NM_025112		126193878	-1	no_errors	ENST00000389709	ensembl	human	known	70_37	silent	SNP	1.000	A
