#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCD1	215	genome.wustl.edu	37	X	153008476	153008476	+	Missense_Mutation	SNP	T	T	C	rs201774661		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:153008476T>C	ENST00000218104.3	+	8	2215	c.1816T>C	c.(1816-1818)Tcg>Ccg	p.S606P	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	606	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> L (in ALD; decreased ATP-binding affinity). {ECO:0000269|PubMed:8040304}.|S -> P (in ALD; CALD, AMN and ALMD- types). {ECO:0000269|PubMed:21700483, ECO:0000269|PubMed:21889498}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.S606P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACGTCCTGTCGGGTGGCGA	0.657																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM960043	ABCD1	M																																				SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1816T>C	X.37:g.153008476T>C	ENSP00000218104:p.Ser606Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.S606P	ENST00000218104.3	37	c.1816	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307005	0.81247	.	.	ENSG00000101986	ENST00000218104	D	0.99957	-8.99	5.46	5.46	0.80206	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000009	D	0.99964	0.9986	H	0.99357	4.53	0.80722	D	1	D	0.56521	0.976	P	0.59546	0.859	D	0.96145	0.9103	10	0.87932	D	0	-5.1669	13.4857	0.61364	0.0:0.0:0.0:1.0	.	606	P33897	ABCD1_HUMAN	P	606	ENSP00000218104:S606P	ENSP00000218104:S606P	S	+	1	0	ABCD1	152661670	1.000000	0.71417	0.058000	0.19502	0.765000	0.43378	5.967000	0.70403	1.827000	0.53221	0.350000	0.21858	TCG	ABCD1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	T	NM_000033		153008476	+1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	1.000	C
ACAP1	9744	genome.wustl.edu	37	17	7252323	7252323	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:7252323C>T	ENST00000158762.3	+	18	1894	c.1688C>T	c.(1687-1689)tCt>tTt	p.S563F	ACAP1_ENST00000575415.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	563	Prevents interaction with ITGB1 when S- 554 is not phosphorylated.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S563F(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GAGCCCCCCTCTGAGGACCTG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											75.0	83.0	80.0					17																	7252323		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1688C>T	17.37:g.7252323C>T	ENSP00000158762:p.Ser563Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XN9	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.S563F	ENST00000158762.3	37	c.1688	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	C	9.674	1.147371	0.21288	.	.	ENSG00000072818	ENST00000158762	T	0.73789	-0.78	5.13	5.13	0.70059	.	0.558163	0.17850	N	0.159917	T	0.63010	0.2475	L	0.29908	0.895	0.80722	D	1	P	0.41748	0.761	B	0.41723	0.365	T	0.58267	-0.7666	10	0.09590	T	0.72	.	13.9519	0.64123	0.0:1.0:0.0:0.0	.	563	Q15027	ACAP1_HUMAN	F	563	ENSP00000158762:S563F	ENSP00000158762:S563F	S	+	2	0	ACAP1	7193047	0.988000	0.35896	0.963000	0.40424	0.041000	0.13682	4.692000	0.61746	2.675000	0.91044	0.655000	0.94253	TCT	ACAP1	-	NULL		0.592	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	C	NM_014716		7252323	+1	no_errors	ENST00000158762	ensembl	human	known	70_37	missense	SNP	0.991	T
ACAP1	9744	genome.wustl.edu	37	17	7252471	7252471	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:7252471C>G	ENST00000158762.3	+	18	2042	c.1836C>G	c.(1834-1836)atC>atG	p.I612M	ACAP1_ENST00000575415.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	612	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.I612M(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CACCGCTGATCCAGGCCACAG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											95.0	80.0	85.0					17																	7252471		2203	4300	6503	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1836C>G	17.37:g.7252471C>G	ENSP00000158762:p.Ile612Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XN9	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.I612M	ENST00000158762.3	37	c.1836	CCDS11101.1	17	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310187	0.40895	.	.	ENSG00000072818	ENST00000158762	T	0.63096	-0.02	5.41	3.39	0.38822	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	N	0.10874	0.06	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.58423	-0.7639	10	0.34782	T	0.22	.	10.3435	0.43893	0.0:0.8365:0.0:0.1635	.	612	Q15027	ACAP1_HUMAN	M	612	ENSP00000158762:I612M	ENSP00000158762:I612M	I	+	3	3	ACAP1	7193195	0.661000	0.27430	1.000000	0.80357	0.963000	0.63663	-0.323000	0.07997	1.517000	0.48917	0.561000	0.74099	ATC	ACAP1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.602	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	C	NM_014716		7252471	+1	no_errors	ENST00000158762	ensembl	human	known	70_37	missense	SNP	1.000	G
ACSL3	2181	genome.wustl.edu	37	2	223789234	223789234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:223789234C>T	ENST00000357430.3	+	11	1744	c.1213C>T	c.(1213-1215)Caa>Taa	p.Q405*	ACSL3_ENST00000392066.3_Nonsense_Mutation_p.Q405*	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	405					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q405*(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAGTAGTTTTCAACGTAATCT	0.318			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	2	Substitution - Nonsense(2)	cervix(2)											98.0	94.0	96.0					2																	223789234		2203	4299	6502	SO:0001587	stop_gained	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1213C>T	2.37:g.223789234C>T	ENSP00000350012:p.Gln405*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q60I92|Q8IUM9	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q405*	ENST00000357430.3	37	c.1213	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.487940	0.99414	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000421680	.	.	.	5.78	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5998	16.3214	0.82952	0.1332:0.8668:0.0:0.0	.	.	.	.	X	405;405;175	.	ENSP00000350012:Q405X	Q	+	1	0	ACSL3	223497478	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	7.726000	0.84824	1.440000	0.47531	0.591000	0.81541	CAA	ACSL3	-	pfam_AMP-dep_Synth/Lig		0.318	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	C	NM_004457		223789234	+1	no_errors	ENST00000357430	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ADARB2	105	genome.wustl.edu	37	10	1598927	1598927	+	Intron	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:1598927G>C	ENST00000381312.1	-	2	426					NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CATGTCAACAGAGTTGTGTGG	0.602																																																	0													50.0	55.0	53.0					10																	1598927		1968	4138	6106	SO:0001627	intron_variant	642394			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-177572C>G	10.37:g.1598927G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2-AS1	-	-		0.602	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	G	NM_018702		1598927	+1	no_errors	ENST00000421697	ensembl	human	known	70_37	rna	SNP	0.005	C
ADRA2A	150	genome.wustl.edu	37	10	112839008	112839008	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:112839008G>A	ENST00000280155.2	+	1	2219	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	403					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.V403V(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGTGCTCCGTGCCACGCACGC	0.582																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Substitution - coding silent(1)	cervix(1)											160.0	133.0	142.0					10																	112839008		2203	4300	6503	SO:0001819	synonymous_variant	150			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1254G>A	10.37:g.112839008G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt	p.V418	ENST00000280155.2	37	c.1254	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_rcpt		0.582	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	G	NM_000681		112839008	+1	no_errors	ENST00000280155	ensembl	human	known	70_37	silent	SNP	1.000	A
AFF3	3899	genome.wustl.edu	37	2	100185373	100185373	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:100185373G>A	ENST00000409236.2	-	17	3035	c.2923C>T	c.(2923-2925)Cgc>Tgc	p.R975C	AFF3_ENST00000356421.2_Missense_Mutation_p.R1000C|AFF3_ENST00000409579.1_Missense_Mutation_p.R1000C|AFF3_ENST00000317233.4_Missense_Mutation_p.R975C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	975					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.R1000C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGGCACTGCGAGGCCTACAA	0.368																																																	1	Substitution - Missense(1)	cervix(1)											156.0	144.0	148.0					2																	100185373		2203	4300	6503	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2923C>T	2.37:g.100185373G>A	ENSP00000387207:p.Arg975Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R1000C	ENST00000409236.2	37	c.2998	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763699	0.89932	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.87	5.87	0.94306	.	0.058250	0.64402	D	0.000001	T	0.79684	0.4488	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.65443	0.935;0.917	T	0.79150	-0.1922	10	0.59425	D	0.04	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	975;1000	P51826;P51826-2	AFF3_HUMAN;.	C	975;1000;1000;975;17	ENSP00000317421:R975C;ENSP00000348793:R1000C;ENSP00000386834:R1000C;ENSP00000387207:R975C;ENSP00000416685:R17C	ENSP00000317421:R975C	R	-	1	0	AFF3	99551805	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.100000	0.94213	2.941000	0.99782	0.655000	0.94253	CGC	AFF3	-	pfam_TF_AF4/FMR2		0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	G	NM_002285		100185373	-1	no_errors	ENST00000356421	ensembl	human	known	70_37	missense	SNP	1.000	A
AGAP6	414189	genome.wustl.edu	37	10	51749089	51749089	+	Intron	SNP	C	C	G	rs527938149	byFrequency	TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:51749089C>G	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Missense_Mutation_p.A82G			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A82G(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19062	0.001		0.001	False		,,,				2504	0.001																1	Substitution - Missense(1)	prostate(1)																																								SO:0001627	intron_variant	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+391C>G	10.37:g.51749089C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.A82G	ENST00000374056.4	37	c.245		10	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077299	0.20227	.	.	ENSG00000204149	ENST00000374056	D	0.88664	-2.41	0.945	-0.993	0.10228	.	.	.	.	.	T	0.80166	0.4573	L	0.36672	1.1	0.09310	N	1	P	0.38711	0.643	B	0.41691	0.364	T	0.67507	-0.5653	9	0.12103	T	0.63	.	3.7085	0.08410	0.5812:0.4188:0.0:0.0	.	82	C9IYN2	.	G	82	ENSP00000363168:A82G	ENSP00000363168:A82G	A	+	2	0	AGAP6	51419095	0.000000	0.05858	0.447000	0.26932	0.050000	0.14768	-0.315000	0.08081	-0.186000	0.10533	0.175000	0.17021	GCC	AGAP6	-	NULL		0.343	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		C	NM_001077665		51749089	+1	no_errors	ENST00000374056	ensembl	human	known	70_37	missense	SNP	0.571	G
AGAP6	414189	genome.wustl.edu	37	10	51749117	51749117	+	Intron	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:51749117G>A	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Silent_p.Q91Q			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q91Q(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001627	intron_variant	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+419G>A	10.37:g.51749117G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.Q91	ENST00000374056.4	37	c.273		10																																																																																			AGAP6	-	NULL		0.358	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		G	NM_001077665		51749117	+1	no_errors	ENST00000374056	ensembl	human	known	70_37	silent	SNP	0.950	A
ARHGAP17	55114	genome.wustl.edu	37	16	24988547	24988547	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr16:24988547C>T	ENST00000289968.6	-	3	256	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E63K|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E63K|ARHGAP17_ENST00000575975.1_5'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	63	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.E63K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGTCTCCTCTCGGCATCGGTG	0.542																																																	2	Substitution - Missense(2)	cervix(2)											71.0	53.0	59.0					16																	24988547		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.187G>A	16.37:g.24988547C>T	ENSP00000289968:p.Glu63Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.E63K	ENST00000289968.6	37	c.187	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.162222	0.94727	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.28895	1.59;1.59;1.59	5.68	5.68	0.88126	BAR (3);	0.473515	0.17775	N	0.162441	T	0.50956	0.1646	M	0.68952	2.095	0.51233	D	0.999914	D;D;D	0.63880	0.964;0.974;0.993	P;P;P	0.57548	0.454;0.458;0.823	T	0.49943	-0.8885	10	0.66056	D	0.02	.	17.2861	0.87142	0.0:1.0:0.0:0.0	.	63;63;63	Q68EM7-4;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	K	63	ENSP00000289968:E63K;ENSP00000303130:E63K;ENSP00000406950:E63K	ENSP00000289968:E63K	E	-	1	0	ARHGAP17	24896048	1.000000	0.71417	0.957000	0.39632	0.629000	0.37895	6.671000	0.74472	2.660000	0.90430	0.650000	0.86243	GAG	ARHGAP17	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.542	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	C	NM_018054		24988547	-1	no_errors	ENST00000289968	ensembl	human	known	70_37	missense	SNP	0.998	T
ARMC1	55156	genome.wustl.edu	37	8	66539550	66539550	+	Silent	SNP	C	C	T	rs140241141		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:66539550C>T	ENST00000276569.3	-	2	328	c.84G>A	c.(82-84)ccG>ccA	p.P28P	ARMC1_ENST00000523384.1_5'UTR|ARMC1_ENST00000458464.2_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	28					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)	p.P28P(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TTCTGTTTAACGGATCTGCTG	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)						C		0,4406		0,0,2203	161.0	151.0	154.0		84	-11.2	0.3	8	dbSNP_134	154	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ARMC1	NM_018120.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		28/283	66539550	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55156			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.84G>A	8.37:g.66539550C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2W7|Q9H018|Q9H820	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.P28	ENST00000276569.3	37	c.84	CCDS6181.1	8																																																																																			ARMC1	-	pfam_Armadillo,superfamily_ARM-type_fold,pirsf_UCP013899_metal-bd		0.493	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	C	NM_018120		66539550	-1	no_errors	ENST00000276569	ensembl	human	known	70_37	silent	SNP	0.015	T
ATP1B3	483	genome.wustl.edu	37	3	141644560	141644560	+	3'UTR	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141644560C>G	ENST00000286371.3	+	0	1045				ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000462082.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						TAGGATATCTCCACAGAGTAA	0.413																																																	0													136.0	121.0	126.0					3																	141644560		2203	4300	6503	SO:0001624	3_prime_UTR_variant	483			BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.*17C>G	3.37:g.141644560C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1N7	RNA	SNP	-	NULL	ENST00000286371.3	37	NULL	CCDS3121.1	3																																																																																			ATP1B3	-	-		0.413	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1B3	HGNC	protein_coding	OTTHUMT00000353218.1	C	NM_001679		141644560	+1	no_errors	ENST00000484727	ensembl	human	putative	70_37	rna	SNP	0.975	G
ATR	545	genome.wustl.edu	37	3	142180859	142180859	+	Missense_Mutation	SNP	T	T	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:142180859T>G	ENST00000350721.4	-	42	7236	c.7115A>C	c.(7114-7116)gAt>gCt	p.D2372A	ATR_ENST00000383101.3_Missense_Mutation_p.D2308A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2372	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D2372A(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCCACATTCATCATTTAGTGG	0.313								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	cervix(1)											139.0	143.0	142.0					3																	142180859		2203	4298	6501	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7115A>C	3.37:g.142180859T>G	ENSP00000343741:p.Asp2372Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.D2372A	ENST00000350721.4	37	c.7115	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.87|17.87	3.495952|3.495952	0.64186|0.64186	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.83419|.	-1.72;-1.72|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.051477|.	0.85682|.	D|.	0.000000|.	T|.	0.55561|.	0.1928|.	L|L	0.31294|0.31294	0.92|0.92	0.80722|0.80722	D|D	1|1	P|.	0.43938|.	0.822|.	B|.	0.40702|.	0.338|.	T|.	0.52268|.	-0.8598|.	10|.	0.59425|.	D|.	0.04|.	-7.9269|-7.9269	15.6078|15.6078	0.76689|0.76689	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2372|.	Q13535|.	ATR_HUMAN|.	A|C	2372;2308|218	ENSP00000343741:D2372A;ENSP00000372581:D2308A|.	ENSP00000343741:D2372A|.	D|X	-|-	2|3	0|0	ATR|ATR	143663549|143663549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	7.997000|7.997000	0.88414|0.88414	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	GAT|TGA	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.313	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	T	NM_001184		142180859	-1	no_errors	ENST00000350721	ensembl	human	known	70_37	missense	SNP	1.000	G
BBS2	583	genome.wustl.edu	37	16	56531748	56531748	+	Silent	SNP	G	G	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr16:56531748G>T	ENST00000245157.5	-	14	2124	c.1704C>A	c.(1702-1704)atC>atA	p.I568I	BBS2_ENST00000568104.1_Intron	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	568					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I568I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCATTGACTGGATGATATCAC	0.373									Bardet-Biedl syndrome																																								1	Substitution - coding silent(1)	cervix(1)											101.0	95.0	97.0					16																	56531748		2198	4300	6498	SO:0001819	synonymous_variant	583	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1704C>A	16.37:g.56531748G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96CM0|Q96SN9	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot	p.I568	ENST00000245157.5	37	c.1704	CCDS32451.1	16																																																																																			BBS2	-	pirsf_Bardet-Biedl_syndrome_2_prot		0.373	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS2	HGNC	protein_coding	OTTHUMT00000434386.2	G	NM_031885		56531748	-1	no_errors	ENST00000245157	ensembl	human	known	70_37	silent	SNP	1.000	T
C6orf195	154386	genome.wustl.edu	37	6	2623874	2623874	+	Silent	SNP	G	G	C	rs547228602		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:2623874G>C	ENST00000296847.3	-	3	706	c.183C>G	c.(181-183)ccC>ccG	p.P61P		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	61								p.P61P(2)		cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGCCGGACCCGGGAGGGGAGA	0.632																																																	2	Substitution - coding silent(2)	cervix(1)|endometrium(1)											61.0	70.0	67.0					6																	2623874		2002	4158	6160	SO:0001819	synonymous_variant	154386			AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.183C>G	6.37:g.2623874G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Silent	SNP	NULL	p.P61	ENST00000296847.3	37	c.183	CCDS43416.1	6																																																																																			C6orf195	-	NULL		0.632	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf195	HGNC	protein_coding	OTTHUMT00000039633.1	G	NM_152554		2623874	-1	no_errors	ENST00000296847	ensembl	human	known	70_37	silent	SNP	0.001	C
BEND3	57673	genome.wustl.edu	37	6	107391958	107391958	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:107391958G>A	ENST00000369042.1	-	4	627	c.437C>T	c.(436-438)tCg>tTg	p.S146L	BEND3_ENST00000429433.2_Missense_Mutation_p.S146L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	146								p.S146L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGGTCCCCCGAGGGAGGATT	0.572																																																	1	Substitution - Missense(1)	cervix(1)											121.0	119.0	120.0					6																	107391958		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.437C>T	6.37:g.107391958G>A	ENSP00000358038:p.Ser146Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.S146L	ENST00000369042.1	37	c.437	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	G	9.475	1.096648	0.20552	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	4.87	0.423	0.16463	.	1.258120	0.05442	N	0.547764	T	0.10508	0.0257	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.32613	-0.9900	9	0.54805	T	0.06	-11.8967	7.0338	0.24983	0.2843:0.178:0.5377:0.0	.	146	Q5T5X7	BEND3_HUMAN	L	146	.	ENSP00000358038:S146L	S	-	2	0	BEND3	107498651	0.001000	0.12720	0.000000	0.03702	0.533000	0.34776	1.236000	0.32683	0.180000	0.19960	0.455000	0.32223	TCG	BEND3	-	NULL		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	G	NM_020913		107391958	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	0.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48677083	48677083	+	Missense_Mutation	SNP	C	C	T	rs573971701		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:48677083C>T	ENST00000359106.5	+	17	3553	c.3553C>T	c.(3553-3555)Cgc>Tgc	p.R1185C	CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1162C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1185C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1162C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1162C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1185C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1162C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1162C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1162C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1185C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1162C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1185C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1185C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1162C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1185					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.R1185C(3)|p.R1162C(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGCTGCATCGCACTGCCAG	0.682																																																	4	Substitution - Missense(4)	cervix(4)											26.0	33.0	31.0					17																	48677083		2096	4212	6308	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3553C>T	17.37:g.48677083C>T	ENSP00000352011:p.Arg1185Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.R1185C	ENST00000359106.5	37	c.3553	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	16.57	3.161502	0.57368	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-4.11;-4.11;-4.25;-4.06;-4.1;-4.1;-4.13;-4.2;-4.17;-4.19;-4.2;-4.07;-4.09;-4.15;-4.1;-4.05;-4.14;-4.09;-4.07;-4.14;-4.11;-4.09;-4.13;-4.07;-4.13;-4.13	4.93	3.95	0.45737	.	0.379291	0.28290	N	0.015897	D	0.96448	0.8841	L	0.27053	0.805	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;0.999;1.0;1.0;0.999;1.0;0.661;1.0;1.0;1.0;0.992;1.0;0.996;0.997;1.0	D;P;D;P;D;D;D;D;D;D;D;P;P;P;D;P;D;B;P;D;D;P;D;P;P;D	0.80764	0.992;0.786;0.935;0.899;0.932;0.994;0.994;0.932;0.994;0.912;0.912;0.894;0.856;0.871;0.976;0.786;0.917;0.109;0.899;0.912;0.988;0.731;0.912;0.786;0.548;0.962	D	0.96157	0.9112	10	0.66056	D	0.02	.	10.5723	0.45206	0.1497:0.7063:0.1441:0.0	.	1162;1185;1185;1185;1185;1185;1185;1185;1185;1185;1185;1162;1185;1185;1185;1185;1185;1162;1185;1162;1162;1162;1162;1185;1162;1185	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	C	1162;1162;1185;1162;1162;1162;1185;1185;1162;1185;1185;1185;1185;1185;1185;1162;1185;1185;1185;1185;1162;1185;1185;1185;1185;1185	ENSP00000353990:R1162C;ENSP00000339302:R1162C;ENSP00000392390:R1185C;ENSP00000347078:R1162C;ENSP00000409759:R1162C;ENSP00000425522:R1162C;ENSP00000426261:R1185C;ENSP00000425451:R1185C;ENSP00000422407:R1162C;ENSP00000426814:R1185C;ENSP00000427238:R1185C;ENSP00000423112:R1185C;ENSP00000420918:R1185C;ENSP00000426172:R1185C;ENSP00000423045:R1185C;ENSP00000427173:R1162C;ENSP00000426098:R1185C;ENSP00000425698:R1185C;ENSP00000426232:R1185C;ENSP00000423317:R1185C;ENSP00000350979:R1162C;ENSP00000352011:R1185C;ENSP00000414388:R1185C;ENSP00000423155:R1185C;ENSP00000422268:R1185C;ENSP00000421518:R1185C	ENSP00000339302:R1162C	R	+	1	0	CACNA1G	46032082	0.985000	0.35326	1.000000	0.80357	0.563000	0.35712	1.947000	0.40293	1.288000	0.44600	0.561000	0.74099	CGC	CACNA1G	-	NULL		0.682	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	C	NM_018896		48677083	+1	no_errors	ENST00000359106	ensembl	human	known	70_37	missense	SNP	0.979	T
CCDC85A	114800	genome.wustl.edu	37	2	56603037	56603038	+	Nonsense_Mutation	DNP	CC	CC	TT			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:56603037_56603038CC>TT	ENST00000407595.2	+	5	2041_2042	c.1539_1540CC>TT	c.(1537-1542)tcCCag>tcTTag	p.Q514*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	514								p.S513S(2)|p.Q514*(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCACACCTTCCCAGCAGCCTGA	0.48																																																	3	Substitution - coding silent(2)|Substitution - Nonsense(1)	cervix(2)|endometrium(1)																																								SO:0001587	stop_gained	114800			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	Exception_encountered	2.37:g.56603037_56603038delinsTT	ENSP00000384040:p.Gln514*	Somatic		WXS	Illumina HiSeq	Phase_IV		Silent|Nonsense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.S513|p.Q514*	ENST00000407595.2	37	c.1539|c.1540	CCDS46290.1	2																																																																																			CCDC85A	-	NULL		0.480	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	C			56603037|56603038	+1	no_errors	ENST00000407595	ensembl	human	known	70_37	silent|nonsense	SNP	1.000	T
CCNY	219771	genome.wustl.edu	37	10	35818947	35818947	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:35818947C>T	ENST00000374704.4	+	6	628	c.448C>T	c.(448-450)Cac>Tac	p.H150Y	CCNY_ENST00000339497.5_Missense_Mutation_p.H125Y|CCNY_ENST00000374706.1_Missense_Mutation_p.H96Y|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.H96Y	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	150	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.H96Y(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGAAAATCTTCACCCTCTTTC	0.363																																																	1	Substitution - Missense(1)	cervix(1)											173.0	173.0	173.0					10																	35818947		2203	4300	6503	SO:0001583	missense	219771			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.448C>T	10.37:g.35818947C>T	ENSP00000363836:p.His150Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	p.H150Y	ENST00000374704.4	37	c.448	CCDS7189.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.120259	0.94385	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.33865	1.41;1.39;1.46;1.41	5.91	5.91	0.95273	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	L	0.59436	1.845	0.80722	D	1	P;P;D	0.89917	0.732;0.917;1.0	P;P;D	0.97110	0.521;0.54;1.0	T	0.52823	-0.8524	10	0.42905	T	0.14	-0.1576	20.2896	0.98541	0.0:1.0:0.0:0.0	.	17;125;150	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	Y	96;150;150;125;96;17	ENSP00000363838:H96Y;ENSP00000363836:H150Y;ENSP00000344275:H125Y;ENSP00000265375:H96Y	ENSP00000265375:H96Y	H	+	1	0	CCNY	35858953	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.484000	0.81180	2.794000	0.96219	0.655000	0.94253	CAC	CCNY	-	superfamily_Cyclin-like,pirsf_Cyclin_Y		0.363	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNY	HGNC	protein_coding	OTTHUMT00000047568.2	C	NM_181698		35818947	+1	no_errors	ENST00000374704	ensembl	human	known	70_37	missense	SNP	1.000	T
CES3	23491	genome.wustl.edu	37	16	66995225	66995225	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr16:66995225G>A	ENST00000303334.4	+	1	86	c.15G>A	c.(13-15)gtG>gtA	p.V5V	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Silent_p.V5V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	5						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.V5V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGAGAGCAGTGAGAGTGGAGT	0.572											OREG0023869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	cervix(1)											96.0	83.0	87.0					16																	66995225		2200	4300	6500	SO:0001819	synonymous_variant	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.15G>A	16.37:g.66995225G>A		Somatic	1096	WXS	Illumina HiSeq	Phase_IV	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V5	ENST00000303334.4	37	c.15	CCDS10826.1	16																																																																																			CES3	-	NULL		0.572	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	G	NM_024922		66995225	+1	no_errors	ENST00000303334	ensembl	human	known	70_37	silent	SNP	0.000	A
CHD1	1105	genome.wustl.edu	37	5	98212254	98212254	+	Silent	SNP	G	G	A	rs34603291		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:98212254G>A	ENST00000284049.3	-	23	3395	c.3246C>T	c.(3244-3246)ttC>ttT	p.F1082F		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1082					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.F1082F(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACTTCCATTGAAACTAATCT	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											81.0	80.0	80.0					5																	98212254		2203	4300	6503	SO:0001819	synonymous_variant	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3246C>T	5.37:g.98212254G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.F1082	ENST00000284049.3	37	c.3246	CCDS34204.1	5																																																																																			CHD1	-	NULL		0.388	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	G	NM_001270		98212254	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	silent	SNP	1.000	A
CHD6	84181	genome.wustl.edu	37	20	40084593	40084593	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:40084593C>T	ENST00000373233.3	-	19	3033	c.2856G>A	c.(2854-2856)gtG>gtA	p.V952V	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	952	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.V952V(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGGTCCTCCACCTCCATTT	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											184.0	172.0	176.0					20																	40084593		2203	4300	6503	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2856G>A	20.37:g.40084593C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V952	ENST00000373233.3	37	c.2856	CCDS13317.1	20																																																																																			CHD6	-	pfscan_Helicase_C		0.458	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40084593	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	silent	SNP	0.991	T
CHRM2	1129	genome.wustl.edu	37	7	136700956	136700956	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:136700956G>A	ENST00000445907.2	+	3	1872	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	CHRM2_ENST00000402486.3_Silent_p.K448K|CHRM2_ENST00000397608.3_Silent_p.K448K|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.K448K|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.K448K|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.K448K	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	448					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.K448K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCACCTTCAAGAAGACCTTTA	0.433																																																	1	Substitution - coding silent(1)	cervix(1)											188.0	167.0	174.0					7																	136700956		2203	4300	6503	SO:0001819	synonymous_variant	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1344G>A	7.37:g.136700956G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VBK6|Q9P1X9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.K448	ENST00000445907.2	37	c.1344	CCDS5843.1	7																																																																																			CHRM2	-	prints_Musac_rcpt,prints_GPCR_Rhodpsn		0.433	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	G			136700956	+1	no_errors	ENST00000320658	ensembl	human	known	70_37	silent	SNP	1.000	A
CHSY1	22856	genome.wustl.edu	37	15	101719133	101719133	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr15:101719133C>G	ENST00000254190.3	-	3	1344	c.869G>C	c.(868-870)aGa>aCa	p.R290T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	290					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.R290T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGAGATCTCTAATGTACCC	0.398																																																	1	Substitution - Missense(1)	cervix(1)											106.0	110.0	108.0					15																	101719133		2203	4300	6503	SO:0001583	missense	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.869G>C	15.37:g.101719133C>G	ENSP00000254190:p.Arg290Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.R290T	ENST00000254190.3	37	c.869	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848637	0.32699	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	D	0.89617	-2.54	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	L	0.47716	1.5	0.58432	D	0.999998	B	0.15719	0.014	B	0.25506	0.061	T	0.78763	-0.2077	10	0.16420	T	0.52	-30.3489	13.1667	0.59575	0.0:0.9237:0.0:0.0763	.	290	Q86X52	CHSS1_HUMAN	T	290;18	ENSP00000254190:R290T	ENSP00000254190:R290T	R	-	2	0	CHSY1	99536656	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.914000	0.56401	2.448000	0.82819	0.561000	0.74099	AGA	CHSY1	-	pfam_Chond_GalNAc		0.398	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	C	NM_014918		101719133	-1	no_errors	ENST00000254190	ensembl	human	known	70_37	missense	SNP	1.000	G
COL28A1	340267	genome.wustl.edu	37	7	7472140	7472140	+	Silent	SNP	C	C	T	rs115295026	byFrequency	TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:7472140C>T	ENST00000399429.3	-	25	2102	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	654					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P654P(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTAAACCCATCGGCCCAGGGG	0.512																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											95.0	93.0	94.0					7																	7472140		1935	4130	6065	SO:0001819	synonymous_variant	340267			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1962G>A	7.37:g.7472140C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.P654	ENST00000399429.3	37	c.1962	CCDS43553.1	7																																																																																			COL28A1	-	NULL		0.512	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	C	NM_001037763		7472140	-1	no_errors	ENST00000399429	ensembl	human	known	70_37	silent	SNP	0.982	T
COL1A2	1278	genome.wustl.edu	37	7	94057017	94057017	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:94057017T>C	ENST00000297268.6	+	49	3817	c.3346T>C	c.(3346-3348)Ttc>Ctc	p.F1116L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1116					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|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)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.F1116L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGATGGAGACTTCTACAGGGC	0.542										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	cervix(1)											98.0	99.0	99.0					7																	94057017		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3346T>C	7.37:g.94057017T>C	ENSP00000297268:p.Phe1116Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.F1116L	ENST00000297268.6	37	c.3346	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112852	0.37242	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.88586	-2.4	5.71	5.71	0.89125	.	0.172652	0.52532	D	0.000068	T	0.76169	0.3950	N	0.05280	-0.08	0.38248	D	0.941529	B	0.31077	0.307	B	0.27380	0.079	T	0.76369	-0.2984	10	0.11182	T	0.66	.	16.3019	0.82825	0.0:0.0:0.0:1.0	.	1116	P08123	CO1A2_HUMAN	L	1116;1117	ENSP00000297268:F1116L	ENSP00000297268:F1116L	F	+	1	0	COL1A2	93894953	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.919000	0.70005	2.317000	0.78254	0.459000	0.35465	TTC	COL1A2	-	NULL		0.542	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	T	NM_000089		94057017	+1	no_errors	ENST00000297268	ensembl	human	known	70_37	missense	SNP	1.000	C
CST2	1470	genome.wustl.edu	37	20	23807192	23807192	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:23807192C>T	ENST00000304725.2	-	1	176	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.D36N(1)		breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						AGGTCTGCATCATAGATGCCA	0.597																																					Pancreas(193;496 3017 22514 29918)												1	Substitution - Missense(1)	cervix(1)											115.0	93.0	100.0					20																	23807192		2203	4300	6503	SO:0001583	missense	1470			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.106G>A	20.37:g.23807192C>T	ENSP00000307540:p.Asp36Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UCQ7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.D36N	ENST00000304725.2	37	c.106	CCDS13161.1	20	.	.	.	.	.	.	.	.	.	.	C	9.165	1.019621	0.19355	.	.	ENSG00000170369	ENST00000304725	T	0.27720	1.65	2.22	1.2	0.21068	Proteinase inhibitor I25, cystatin (2);	0.890365	0.09588	N	0.781875	T	0.27384	0.0672	L	0.52011	1.625	0.09310	N	1	B	0.13145	0.007	B	0.23574	0.047	T	0.31779	-0.9931	10	0.36615	T	0.2	.	6.8286	0.23897	0.0:0.7094:0.2906:0.0	.	36	P09228	CYTT_HUMAN	N	36	ENSP00000307540:D36N	ENSP00000307540:D36N	D	-	1	0	CST2	23755192	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.134000	0.15932	0.244000	0.21351	0.298000	0.19748	GAT	CST2	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.597	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	HGNC	protein_coding	OTTHUMT00000078352.2	C			23807192	-1	no_errors	ENST00000304725	ensembl	human	known	70_37	missense	SNP	0.001	T
CYSLTR1	10800	genome.wustl.edu	37	X	77528893	77528893	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:77528893C>T	ENST00000373304.3	-	3	643	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	117					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGAAAAAGCTCATGGCTGTCA	0.408																																																	0													62.0	53.0	56.0					X																	77528893		2203	4298	6501	SO:0001583	missense	10800			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.351G>A	X.37:g.77528893C>T	ENSP00000362401:p.Met117Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.M117I	ENST00000373304.3	37	c.351	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	c	17.98	3.520430	0.64747	.	.	ENSG00000173198	ENST00000373304	T	0.61158	0.13	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	N	0.11870	0.19	0.40578	D	0.981363	D	0.69078	0.997	D	0.79108	0.992	T	0.53294	-0.8459	10	0.15066	T	0.55	.	13.8027	0.63212	0.0:1.0:0.0:0.0	.	117	Q9Y271	CLTR1_HUMAN	I	117	ENSP00000362401:M117I	ENSP00000362401:M117I	M	-	3	0	CYSLTR1	77415549	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.795000	0.69074	1.823000	0.53134	0.452000	0.29995	ATG	CYSLTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.408	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	C			77528893	-1	no_errors	ENST00000373304	ensembl	human	known	70_37	missense	SNP	1.000	T
DAB2IP	153090	genome.wustl.edu	37	9	124522191	124522191	+	Silent	SNP	C	C	T	rs267602115		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:124522191C>T	ENST00000408936.3	+	6	825	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	DAB2IP_ENST00000259371.2_Silent_p.L187L|DAB2IP_ENST00000309989.1_Silent_p.L91L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	215	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.L91L(1)|p.L187L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGAGCACATCCTGAAGCTGTG	0.632																																																	2	Substitution - coding silent(2)	cervix(2)											99.0	87.0	91.0					9																	124522191		2203	4300	6503	SO:0001819	synonymous_variant	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.643C>T	9.37:g.124522191C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L215	ENST00000408936.3	37	c.643		9																																																																																			DAB2IP	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.632	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	C	NM_032552		124522191	+1	no_errors	ENST00000408936	ensembl	human	known	70_37	silent	SNP	1.000	T
DCAF16	54876	genome.wustl.edu	37	4	17805707	17805707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:17805707C>A	ENST00000382247.1	-	3	1118	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	DCAF16_ENST00000536863.1_Nonsense_Mutation_p.E20*|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	20	Poly-Glu.				protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.E20*(1)		cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CTAATATTTTCTTCTTCCTCA	0.418																																																	1	Substitution - Nonsense(1)	cervix(1)											52.0	54.0	53.0					4																	17805707		2203	4300	6503	SO:0001587	stop_gained	54876			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.58G>T	4.37:g.17805707C>A	ENSP00000371682:p.Glu20*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPB7	Nonsense_Mutation	SNP	NULL	p.E20*	ENST00000382247.1	37	c.58	CCDS3423.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.662630	0.98419	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	.	.	.	3.71	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.7519	7.387	0.26888	0.0:0.8809:0.0:0.1191	.	.	.	.	X	20	.	ENSP00000371682:E20X	E	-	1	0	DCAF16	17414805	0.845000	0.29573	0.940000	0.37924	0.006000	0.05464	1.150000	0.31639	1.145000	0.42336	-0.291000	0.09656	GAA	DCAF16	-	NULL		0.418	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	HGNC	protein_coding	OTTHUMT00000250371.1	C	NM_017741		17805707	-1	no_errors	ENST00000382247	ensembl	human	known	70_37	nonsense	SNP	0.960	A
DCLRE1C	64421	genome.wustl.edu	37	10	14976735	14976735	+	Silent	SNP	G	G	A	rs61749165		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:14976735G>A	ENST00000378278.2	-	7	541	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DCLRE1C_ENST00000378289.4_Silent_p.F168F|DCLRE1C_ENST00000396817.2_Silent_p.F48F|DCLRE1C_ENST00000357717.2_Silent_p.F53F|DCLRE1C_ENST00000378258.1_Silent_p.F48F|DCLRE1C_ENST00000378255.1_Silent_p.F48F|DCLRE1C_ENST00000378246.2_Silent_p.F53F|DCLRE1C_ENST00000378249.1_Silent_p.F53F|DCLRE1C_ENST00000378254.1_Silent_p.F48F|DCLRE1C_ENST00000453695.2_Silent_p.F48F			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	168					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.F53F(1)|p.F168F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTGGATCACAGAACGTAGTAT	0.368								Non-homologous end-joining																																									2	Substitution - coding silent(2)	cervix(2)											135.0	130.0	131.0					10																	14976735		2203	4300	6503	SO:0001819	synonymous_variant	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.504C>T	10.37:g.14976735G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	pfam_DRMBL	p.F168	ENST00000378278.2	37	c.504	CCDS31149.1	10																																																																																			DCLRE1C	-	NULL		0.368	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	G	NM_022487		14976735	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	silent	SNP	1.000	A
DDX23	9416	genome.wustl.edu	37	12	49230515	49230515	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:49230515G>A	ENST00000308025.3	-	10	1152	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	358					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S358F(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTTTTCTGAGACCAATGACG	0.532																																																	1	Substitution - Missense(1)	cervix(1)											174.0	162.0	166.0					12																	49230515		2203	4300	6503	SO:0001583	missense	9416			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1073C>T	12.37:g.49230515G>A	ENSP00000310723:p.Ser358Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S358F	ENST00000308025.3	37	c.1073	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.310672	0.95629	.	.	ENSG00000174243	ENST00000308025	T	0.23950	1.88	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.79926	2.475	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.54390	-0.8301	10	0.87932	D	0	-10.663	18.8567	0.92255	0.0:0.0:1.0:0.0	.	358	Q9BUQ8	DDX23_HUMAN	F	358	ENSP00000310723:S358F	ENSP00000310723:S358F	S	-	2	0	DDX23	47516782	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.756000	0.85195	2.756000	0.94617	0.561000	0.74099	TCT	DDX23	-	NULL		0.532	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	G	NM_004818		49230515	-1	no_errors	ENST00000308025	ensembl	human	known	70_37	missense	SNP	1.000	A
DENND4B	9909	genome.wustl.edu	37	1	153902843	153902843	+	Missense_Mutation	SNP	C	C	T	rs573948345		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:153902843C>T	ENST00000361217.4	-	28	4839	c.4421G>A	c.(4420-4422)cGg>cAg	p.R1474Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1474					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1362Q(1)|p.R1474Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCGCCCGCCGGTGCCTCAG	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20165	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	cervix(2)											53.0	57.0	56.0					1																	153902843		2047	4185	6232	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4421G>A	1.37:g.153902843C>T	ENSP00000354597:p.Arg1474Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R1474Q	ENST00000361217.4	37	c.4421	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838258	0.51057	.	.	ENSG00000198837	ENST00000361217	T	0.06687	3.27	5.14	4.23	0.50019	.	0.118823	0.56097	D	0.000040	T	0.02929	0.0087	L	0.43152	1.355	0.37471	D	0.915595	P	0.38800	0.648	B	0.25614	0.062	T	0.39603	-0.9606	10	0.59425	D	0.04	-20.2648	12.712	0.57094	0.0:0.9196:0.0:0.0804	.	1474	O75064	DEN4B_HUMAN	Q	1474	ENSP00000354597:R1474Q	ENSP00000354597:R1474Q	R	-	2	0	DENND4B	152169467	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.899000	0.48679	1.397000	0.46682	-0.258000	0.10820	CGG	DENND4B	-	NULL		0.552	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153902843	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21603847	21603847	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:21603847G>A	ENST00000409508.3	+	6	1057	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	DNAH11_ENST00000328843.6_Silent_p.L342L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	342	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L342L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGACCTCTGAGGAGACACA	0.423									Kartagener syndrome																																								1	Substitution - coding silent(1)	cervix(1)											92.0	89.0	90.0					7																	21603847		1845	4087	5932	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1026G>A	7.37:g.21603847G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L342	ENST00000409508.3	37	c.1026		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-1		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21603847	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	0.971	A
DNAH11	8701	genome.wustl.edu	37	7	21827105	21827105	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:21827105G>A	ENST00000409508.3	+	60	9859	c.9828G>A	c.(9826-9828)ttG>ttA	p.L3276L	DNAH11_ENST00000328843.6_Silent_p.L3283L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3283	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3283L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACACTATTTGAAAGACCCAG	0.378									Kartagener syndrome																																								1	Substitution - coding silent(1)	cervix(1)											91.0	87.0	88.0					7																	21827105		1845	4100	5945	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9828G>A	7.37:g.21827105G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3283	ENST00000409508.3	37	c.9849		7																																																																																			DNAH11	-	NULL		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21827105	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	A
DNTTIP2	30836	genome.wustl.edu	37	1	94344778	94344778	+	5'Flank	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:94344778C>G	ENST00000436063.2	-	0	0				DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AGAACTGCCTCGAGCGCGTTT	0.607																																																	0																																										SO:0001631	upstream_gene_variant	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268		1.37:g.94344778C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	RNA	SNP	-	NULL	ENST00000436063.2	37	NULL	CCDS44174.1	1																																																																																			DNTTIP2	-	-		0.607	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	C	NM_014597		94344778	-1	no_errors	ENST00000460191	ensembl	human	known	70_37	rna	SNP	0.000	G
DZIP1L	199221	genome.wustl.edu	37	3	137811366	137811366	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:137811366C>G	ENST00000327532.2	-	5	1091	c.729G>C	c.(727-729)caG>caC	p.Q243H	DZIP1L_ENST00000488595.1_5'Flank|DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q243H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	243					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.Q243H(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTATTTCCCTCTGATGAATGA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											135.0	138.0	137.0					3																	137811366		2203	4298	6501	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.729G>C	3.37:g.137811366C>G	ENSP00000332148:p.Gln243His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.Q243H	ENST00000327532.2	37	c.729	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	C	4.076	0.011974	0.07912	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.56444	0.46;0.46	5.57	3.76	0.43208	.	0.280340	0.29383	N	0.012317	T	0.43033	0.1229	L	0.50333	1.59	0.25715	N	0.985439	P;P	0.40083	0.64;0.702	B;B	0.35470	0.203;0.074	T	0.42882	-0.9425	10	0.56958	D	0.05	-25.6474	9.7633	0.40545	0.0:0.8362:0.0:0.1638	.	243;243	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	H	243	ENSP00000332148:Q243H;ENSP00000419486:Q243H	ENSP00000332148:Q243H	Q	-	3	2	DZIP1L	139294056	0.999000	0.42202	0.934000	0.37439	0.047000	0.14425	0.659000	0.24994	1.341000	0.45600	0.655000	0.94253	CAG	DZIP1L	-	NULL		0.333	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	C	NM_173543		137811366	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	missense	SNP	0.997	G
EFEMP2	30008	genome.wustl.edu	37	11	65637669	65637669	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:65637669C>T	ENST00000307998.6	-	6	760	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.C177Y	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	177	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.C177Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CAGGTTCACGCAGCGGTGCTG	0.667																																																	1	Substitution - Missense(1)	cervix(1)											47.0	51.0	50.0					11																	65637669		2201	4295	6496	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.530G>A	11.37:g.65637669C>T	ENSP00000309953:p.Cys177Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.C177Y	ENST00000307998.6	37	c.530	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	C	30	5.049780	0.93740	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.99445	-3.96;-3.19;-5.91;-4.52	5.36	5.36	0.76844	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000034	D	0.99809	0.9917	H	0.99740	4.74	0.80722	D	1	D;D	0.63046	0.992;0.971	D;P	0.74023	0.982;0.691	D	0.96651	0.9481	10	0.87932	D	0	.	16.9411	0.86218	0.0:1.0:0.0:0.0	.	177;177	E9PRU1;O95967	.;FBLN4_HUMAN	Y	177	ENSP00000434151:C177Y;ENSP00000309953:C177Y;ENSP00000435419:C177Y;ENSP00000435963:C177Y	ENSP00000309953:C177Y	C	-	2	0	EFEMP2	65394245	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	5.789000	0.69029	2.674000	0.91012	0.561000	0.74099	TGC	EFEMP2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin		0.667	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4	C	NM_016938		65637669	-1	no_errors	ENST00000307998	ensembl	human	known	70_37	missense	SNP	1.000	T
ELL	8178	genome.wustl.edu	37	19	18557290	18557290	+	Splice_Site	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:18557290C>T	ENST00000262809.4	-	10	1604	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	ELL_ENST00000596124.3_Splice_Site_p.L378L|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	511					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.L511L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTGCGTACTTCCTGAAACAGG	0.637			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	1	Substitution - coding silent(1)	cervix(1)											46.0	43.0	44.0					19																	18557290		2203	4300	6503	SO:0001630	splice_region_variant	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1533-1G>A	19.37:g.18557290C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L511	ENST00000262809.4	37	c.1533	CCDS12380.1	19																																																																																			ELL	-	NULL		0.637	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532	Silent	18557290	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	silent	SNP	0.884	T
EML2	24139	genome.wustl.edu	37	19	46116846	46116846	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:46116846C>A	ENST00000245925.3	-	18	1827	c.1777G>T	c.(1777-1779)Gac>Tac	p.D593Y	EML2_ENST00000589876.1_Missense_Mutation_p.D593Y|EML2_ENST00000536630.1_Missense_Mutation_p.D740Y|EML2_ENST00000587152.1_Missense_Mutation_p.D794Y	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	593	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.D593Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TTGCCAAAGTCATCAGCTGAA	0.587																																																	1	Substitution - Missense(1)	cervix(1)											142.0	119.0	127.0					19																	46116846		2203	4300	6503	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1777G>T	19.37:g.46116846C>A	ENSP00000245925:p.Asp593Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D794Y	ENST00000245925.3	37	c.2380	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271020	0.80469	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.29917	1.55;2.74	4.75	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.987	T	0.61247	-0.7101	10	0.48119	T	0.1	-39.2728	15.6448	0.77039	0.0:1.0:0.0:0.0	.	759;740;593	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	Y	740;593;751	ENSP00000442365:D740Y;ENSP00000245925:D593Y	ENSP00000245925:D593Y	D	-	1	0	EML2	50808686	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.251000	0.78297	2.653000	0.90120	0.563000	0.77884	GAC	EML2	-	superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	C	NM_012155		46116846	-1	no_errors	ENST00000587152	ensembl	human	known	70_37	missense	SNP	1.000	A
RRP12	23223	genome.wustl.edu	37	10	99161090	99161090	+	5'UTR	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:99161090C>G	ENST00000370992.4	-	0	10				RRP12_ENST00000315563.6_5'Flank|RRP12_ENST00000414986.1_5'UTR|RP11-452K12.7_ENST00000422848.1_RNA	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTCACTTCCTCTTCTTCTGGC	0.522																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.-102G>C	10.37:g.99161090C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	RNA	SNP	-	NULL	ENST00000370992.4	37	NULL	CCDS7457.1	10																																																																																			RP11-452K12.7	-	-		0.522	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000231970	Clone_based_vega_gene	protein_coding	OTTHUMT00000049699.4	C	NM_015179		99161090	+1	no_errors	ENST00000422848	ensembl	human	known	70_37	rna	SNP	0.995	G
FMNL1	752	genome.wustl.edu	37	17	43318472	43318473	+	Intron	INS	-	-	C	rs555047358		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:43318472_43318473insC	ENST00000331495.3	+	13	1566				FMNL1_ENST00000587489.1_5'UTR|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000328118.3_Intron|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGGGTCGGGGCTCACCATGTG	0.653																																					GBM(164;1247 1997 8702 11086 51972)												0																																										SO:0001627	intron_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1231-23->C	17.37:g.43318473_43318473dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	RNA	INS	-	NULL	ENST00000331495.3	37	NULL	CCDS11497.1	17																																																																																			CTD-2020K17.3	-	-		0.653	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233175	Clone_based_vega_gene	protein_coding	OTTHUMT00000450198.1	-	NM_005892		43318473	-1	no_errors	ENST00000587534	ensembl	human	known	70_37	rna	INS	0.950:0.998	C
INTS3	65123	genome.wustl.edu	37	1	153719426	153719426	+	Intron	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:153719426C>T	ENST00000318967.2	+	4	886				INTS3_ENST00000435409.2_Intron|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_Intron	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.?(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AACTTTACTTCTCACAGTGTT	0.458																																																	1	Unknown(1)	cervix(1)											81.0	80.0	80.0					1																	153719426		2203	4300	6503	SO:0001627	intron_variant	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.319-7C>T	1.37:g.153719426C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	RNA	SNP	-	NULL	ENST00000318967.2	37	NULL	CCDS1052.1	1																																																																																			RP11-216N14.8	-	-		0.458	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243613	Clone_based_vega_gene	protein_coding	OTTHUMT00000090045.2	C	NM_023015		153719426	-1	no_errors	ENST00000453778	ensembl	human	known	70_37	rna	SNP	0.000	T
EP400	57634	genome.wustl.edu	37	12	132529427	132529427	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:132529427C>T	ENST00000333577.4	+	38	6930	c.6821C>T	c.(6820-6822)cCc>cTc	p.P2274L	EP400_ENST00000330386.6_Missense_Mutation_p.P2157L|EP400_ENST00000389562.2_Missense_Mutation_p.P2237L|EP400_ENST00000332482.4_Missense_Mutation_p.P2201L|EP400_ENST00000389561.2_Missense_Mutation_p.P2238L			Q96L91	EP400_HUMAN	E1A binding protein p400	2274					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P2237L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCCACTCCCATCCCAGAG	0.607																																																	1	Substitution - Missense(1)	cervix(1)											82.0	73.0	76.0					12																	132529427		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6821C>T	12.37:g.132529427C>T	ENSP00000333602:p.Pro2274Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P2274L	ENST00000333577.4	37	c.6821		12	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547986	0.45383	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90732	-2.71;-2.71;-2.72;-2.71;-2.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95296	0.8399	10	0.66056	D	0.02	.	19.5775	0.95450	0.0:1.0:0.0:0.0	.	2238;2157;2237	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	2274;2238;2237;2201;2157;2238	ENSP00000333602:P2274L;ENSP00000374212:P2238L;ENSP00000374213:P2237L;ENSP00000331737:P2201L;ENSP00000330620:P2157L	ENSP00000330620:P2157L	P	+	2	0	EP400	131095380	1.000000	0.71417	0.997000	0.53966	0.407000	0.30961	7.476000	0.81055	2.625000	0.88918	0.591000	0.81541	CCC	EP400	-	NULL		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132529427	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	T
FAT4	79633	genome.wustl.edu	37	4	126398366	126398366	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:126398366C>A	ENST00000394329.3	+	13	12363	c.12350C>A	c.(12349-12351)cCa>cAa	p.P4117Q	FAT4_ENST00000335110.5_Missense_Mutation_p.P2380Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4117	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4117Q(2)|p.P4082Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTCTAGAACCAATCCTTCAG	0.393																																																	4	Substitution - Missense(4)	cervix(2)|large_intestine(2)											167.0	172.0	170.0					4																	126398366		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12350C>A	4.37:g.126398366C>A	ENSP00000377862:p.Pro4117Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4117Q	ENST00000394329.3	37	c.12350	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316718	0.60524	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76968	-1.06;-1.06	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.34314	U	0.004068	D	0.85323	0.5670	L	0.60067	1.865	0.58432	D	0.999997	D;D;P	0.55385	0.971;0.967;0.9	P;P;P	0.60012	0.718;0.867;0.718	D	0.85287	0.1065	10	0.54805	T	0.06	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	2380;4117;4117	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	4117;2380	ENSP00000377862:P4117Q;ENSP00000335169:P2380Q	ENSP00000335169:P2380Q	P	+	2	0	FAT4	126617816	1.000000	0.71417	0.142000	0.22268	0.122000	0.20287	5.614000	0.67695	2.626000	0.88956	0.650000	0.86243	CCA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126398366	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	0.986	A
FGF21	26291	genome.wustl.edu	37	19	49259545	49259545	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:49259545C>T	ENST00000593756.1	+	2	624	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	FUT1_ENST00000601931.1_5'Flank|FGF21_ENST00000222157.3_Silent_p.L18L|FUT1_ENST00000310160.3_5'Flank			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	18					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.L18L(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGTTTCTGTGCTGGCTGGTCT	0.627																																																	1	Substitution - coding silent(1)	cervix(1)											75.0	57.0	63.0					19																	49259545		2203	4300	6503	SO:0001819	synonymous_variant	26291			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.52C>T	19.37:g.49259545C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N683	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF	p.L18	ENST00000593756.1	37	c.52	CCDS12734.1	19																																																																																			FGF21	-	superfamily_Cytokine_IL1-like,pirsf_Fibroblast_GF_15/19/21		0.627	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF21	HGNC	protein_coding	OTTHUMT00000466200.1	C			49259545	+1	no_errors	ENST00000222157	ensembl	human	known	70_37	silent	SNP	0.763	T
FLG	2312	genome.wustl.edu	37	1	152281070	152281070	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:152281070C>T	ENST00000368799.1	-	3	6327	c.6292G>A	c.(6292-6294)Gaa>Aaa	p.E2098K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2098	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E2098K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACTGTTCATGAGTGCTC	0.572									Ichthyosis																																								1	Substitution - Missense(1)	cervix(1)											305.0	232.0	257.0					1																	152281070		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6292G>A	1.37:g.152281070C>T	ENSP00000357789:p.Glu2098Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E2098K	ENST00000368799.1	37	c.6292	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	8.233	0.805119	0.16467	.	.	ENSG00000143631	ENST00000368799	T	0.01665	4.7	2.65	-2.2	0.06994	.	.	.	.	.	T	0.00580	0.0019	M	0.79805	2.47	0.09310	N	1	P	0.47409	0.895	B	0.38056	0.264	T	0.46048	-0.9219	9	0.07644	T	0.81	.	1.9969	0.03459	0.1886:0.3147:0.371:0.1256	.	2098	P20930	FILA_HUMAN	K	2098	ENSP00000357789:E2098K	ENSP00000357789:E2098K	E	-	1	0	FLG	150547694	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-7.020000	0.00046	-0.461000	0.06993	0.485000	0.47835	GAA	FLG	-	NULL		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152281070	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152281894	152281894	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:152281894C>A	ENST00000368799.1	-	3	5503	c.5468G>T	c.(5467-5469)gGa>gTa	p.G1823V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1823	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1823V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGCCTTCCTCCTCTGCT	0.582									Ichthyosis																																								1	Substitution - Missense(1)	cervix(1)											370.0	367.0	368.0					1																	152281894		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5468G>T	1.37:g.152281894C>A	ENSP00000357789:p.Gly1823Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.G1823V	ENST00000368799.1	37	c.5468	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283450	0.23392	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01665	4.7	4.16	1.04	0.20106	.	.	.	.	.	T	0.03434	0.0099	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.31724	-0.9933	9	0.59425	D	0.04	-0.7845	6.3309	0.21269	0.0:0.6527:0.0:0.3473	.	1823	P20930	FILA_HUMAN	V	1823;58	ENSP00000357789:G1823V	ENSP00000271820:G58V	G	-	2	0	FLG	150548518	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.411000	0.02478	0.115000	0.18071	0.573000	0.79308	GGA	FLG	-	NULL		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152281894	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	A
FRY	10129	genome.wustl.edu	37	13	32776660	32776660	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr13:32776660C>T	ENST00000380250.3	+	31	4510	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1338						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F1338F(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCCCCTCTTCTCAGGTACCA	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	65.0	65.0					13																	32776660		1954	4152	6106	SO:0001819	synonymous_variant	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4014C>T	13.37:g.32776660C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.F1338	ENST00000380250.3	37	c.4014	CCDS41875.1	13																																																																																			FRY	-	NULL		0.463	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	C	NM_023037		32776660	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	silent	SNP	1.000	T
GADD45B	4616	genome.wustl.edu	37	19	2476585	2476585	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:2476585C>T	ENST00000215631.4	+	2	335	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	GADD45B_ENST00000587345.1_Missense_Mutation_p.R35C	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	35					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R35C(1)		cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCAGGATCGCCTCACAGT	0.667											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											70.0	63.0	65.0					19																	2476585		2203	4300	6503	SO:0001583	missense	4616			AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"""myeloid differentiation primary response"", ""growth arrest and DNA-damage-inducible beta"""	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.103C>T	19.37:g.2476585C>T	ENSP00000215631:p.Arg35Cys	Somatic	603	WXS	Illumina HiSeq	Phase_IV	A8KAM2|O75960|Q17R46	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R35C	ENST00000215631.4	37	c.103	CCDS32868.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524544	0.64747	.	.	ENSG00000099860	ENST00000215631	T	0.59502	0.26	5.3	4.26	0.50523	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.161263	0.56097	D	0.000028	T	0.28466	0.0704	N	0.02379	-0.575	0.53005	D	0.999965	B	0.11235	0.004	B	0.08055	0.003	T	0.13176	-1.0519	10	0.45353	T	0.12	.	7.1611	0.25664	0.0:0.8135:0.0:0.1865	.	35	O75293	GA45B_HUMAN	C	35	ENSP00000215631:R35C	ENSP00000215631:R35C	R	+	1	0	GADD45B	2427585	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.843000	0.39259	2.473000	0.83533	0.491000	0.48974	CGC	GADD45B	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.667	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45B	HGNC	protein_coding	OTTHUMT00000451337.1	C	NM_015675		2476585	+1	no_errors	ENST00000215631	ensembl	human	known	70_37	missense	SNP	1.000	T
GGT3P	2679	genome.wustl.edu	37	22	18778604	18778604	+	RNA	SNP	G	G	A	rs201814941		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr22:18778604G>A	ENST00000412448.1	-	0	801							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGGCATCCGCGGCCACGGCAG	0.622																																																	0																																												2679					22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778604G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000412448.1	37	NULL		22																																																																																			GGT3P	-	-		0.622	GGT3P-002	KNOWN	basic	processed_transcript	GGT3P	HGNC	pseudogene	OTTHUMT00000341281.1	G	NR_003267		18778604	-1	no_errors	ENST00000412448	ensembl	human	known	70_37	rna	SNP	0.334	A
GJA9	81025	genome.wustl.edu	37	1	39341324	39341324	+	Silent	SNP	G	G	A	rs375468847		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:39341324G>A	ENST00000360786.3	-	1	699	c.447C>T	c.(445-447)ctC>ctT	p.L149L	GJA9_ENST00000454994.2_Silent_p.L149L|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.L149L|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	149					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.L149L(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AGGTTCCTCTGAGTGGAGCTT	0.423																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	164.0	153.0	157.0		447	1.9	0.4	1		157	0,8600		0,0,4300	no	coding-synonymous	GJA9	NM_030772.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		149/516	39341324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81025			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.447C>T	1.37:g.39341324G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L149	ENST00000360786.3	37	c.447	CCDS432.1	1																																																																																			GJA9	-	NULL		0.423	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	G	NM_030772		39341324	-1	no_errors	ENST00000357771	ensembl	human	known	70_37	silent	SNP	0.986	A
COLGALT1	79709	genome.wustl.edu	37	19	17678289	17678289	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:17678289C>T	ENST00000252599.4	+	4	684	c.564C>T	c.(562-564)gtC>gtT	p.V188V	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	188					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)	p.V188V(1)									AGACGGTGGTCGCCCCCATGC	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											90.0	72.0	78.0					19																	17678289		2203	4300	6503	SO:0001819	synonymous_variant	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.564C>T	19.37:g.17678289C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC64	Silent	SNP	pfam_Glyco_trans_25	p.V188	ENST00000252599.4	37	c.564	CCDS12363.1	19																																																																																			GLT25D1	-	NULL		0.582	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17678289	+1	no_errors	ENST00000252599	ensembl	human	known	70_37	silent	SNP	1.000	T
HADH	3033	genome.wustl.edu	37	4	108953508	108953508	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:108953508C>T	ENST00000403312.1	+	7	954	c.912C>T	c.(910-912)aaC>aaT	p.N304N	HADH_ENST00000454409.2_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000505878.1_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000603302.1_Silent_p.N245N	NM_001184705.2	NP_001171634.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	566					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.N245N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GTGATTCTAACTCGGGTTTGG	0.418																																																	1	Substitution - coding silent(1)	cervix(1)											285.0	285.0	285.0					4																	108953508		876	1991	2867	SO:0001819	synonymous_variant	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000403312.1:c.912C>T	4.37:g.108953508C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like	p.N245	ENST00000403312.1	37	c.735		4																																																																																			HADH	-	superfamily_6-PGluconate_DH_C-like		0.418	HADH-002	KNOWN	basic	protein_coding	HADH	HGNC	protein_coding	OTTHUMT00000254751.3	C	NM_005327		108953508	+1	no_errors	ENST00000403312	ensembl	human	known	70_37	silent	SNP	0.000	T
HEATR5B	54497	genome.wustl.edu	37	2	37295890	37295890	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:37295890C>T	ENST00000233099.5	-	8	1206	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E371K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	371						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.E371K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGGGCTTTTTCACCTAGCAAA	0.448																																																	1	Substitution - Missense(1)	cervix(1)											73.0	71.0	72.0					2																	37295890		2203	4300	6503	SO:0001583	missense	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1111G>A	2.37:g.37295890C>T	ENSP00000233099:p.Glu371Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E371K	ENST00000233099.5	37	c.1111	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.752181	0.96890	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08370	3.1;3.1	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.22068	-1.0227	10	0.62326	D	0.03	-22.6729	19.7635	0.96333	0.0:1.0:0.0:0.0	.	371	Q9P2D3	HTR5B_HUMAN	K	371	ENSP00000233099:E371K;ENSP00000346531:E371K	ENSP00000233099:E371K	E	-	1	0	HEATR5B	37149394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.669000	0.90835	0.655000	0.94253	GAA	HEATR5B	-	superfamily_ARM-type_fold		0.448	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	C	NM_019024		37295890	-1	no_errors	ENST00000233099	ensembl	human	known	70_37	missense	SNP	1.000	T
HERC4	26091	genome.wustl.edu	37	10	69726539	69726539	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:69726539C>T	ENST00000395198.3	-	16	2074	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	HERC4_ENST00000412272.2_Silent_p.Q609Q|HERC4_ENST00000373700.4_Silent_p.Q609Q|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.Q499Q	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	609					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q609Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTGTATAATCTGTCCCATTT	0.299																																																	1	Substitution - coding silent(1)	cervix(1)											64.0	62.0	63.0					10																	69726539		2202	4295	6497	SO:0001819	synonymous_variant	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1827G>A	10.37:g.69726539C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q609	ENST00000395198.3	37	c.1827	CCDS41533.1	10																																																																																			HERC4	-	NULL		0.299	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	C	NM_015601		69726539	-1	no_errors	ENST00000395198	ensembl	human	known	70_37	silent	SNP	0.999	T
HSDL2	84263	genome.wustl.edu	37	9	115221855	115221855	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:115221855C>T	ENST00000398805.3	+	10	1369	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	HSDL2_ENST00000262542.7_Missense_Mutation_p.S261L|HSDL2_ENST00000398803.1_Missense_Mutation_p.S308L|HSDL2_ENST00000539114.1_Missense_Mutation_p.S176L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	381	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)	p.S381L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AAAATGTTTTCAGGTGAGTTT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											201.0	189.0	193.0					9																	115221855		1896	4114	6010	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.1142C>T	9.37:g.115221855C>T	ENSP00000381785:p.Ser381Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.S381L	ENST00000398805.3	37	c.1142	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968130	0.92855	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.97	5.97	0.96955	SCP2 sterol-binding domain (2);	0.243172	0.41823	D	0.000802	T	0.20981	0.0505	L	0.33668	1.02	0.40992	D	0.984869	P;P;P	0.43231	0.617;0.801;0.759	B;B;B	0.41374	0.173;0.355;0.338	T	0.01480	-1.1344	10	0.22109	T	0.4	.	20.0189	0.97489	0.0:1.0:0.0:0.0	.	308;308;381	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	L	381;308;261;176	ENSP00000381785:S381L;ENSP00000381783:S308L;ENSP00000262542:S261L;ENSP00000442278:S176L	ENSP00000262542:S261L	S	+	2	0	HSDL2	114261676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.440000	0.59975	2.828000	0.97474	0.655000	0.94253	TCA	HSDL2	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom		0.368	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	C	NM_032303		115221855	+1	no_errors	ENST00000398805	ensembl	human	known	70_37	missense	SNP	1.000	T
IFT122	55764	genome.wustl.edu	37	3	129236334	129236334	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:129236334C>T	ENST00000348417.2	+	27	3365	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	IFT122_ENST00000431818.2_Silent_p.F946F|IFT122_ENST00000349441.2_Silent_p.F986F|IFT122_ENST00000507564.1_Silent_p.F1089F|IFT122_ENST00000504021.1_Silent_p.F973F|IFT122_ENST00000440957.2_Silent_p.F887F|IFT122_ENST00000347300.2_Silent_p.F1037F|IFT122_ENST00000296266.3_Silent_p.F1147F	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1096					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.F1147F(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGTTGAGTTCTACCTGGAGG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											136.0	109.0	118.0					3																	129236334		2203	4300	6503	SO:0001819	synonymous_variant	55764			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3288C>T	3.37:g.129236334C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1147	ENST00000348417.2	37	c.3441	CCDS3061.1	3																																																																																			IFT122	-	NULL		0.572	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	C	NM_018262		129236334	+1	no_errors	ENST00000296266	ensembl	human	known	70_37	silent	SNP	1.000	T
IQCA1	79781	genome.wustl.edu	37	2	237272528	237272528	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:237272528G>C	ENST00000409907.3	-	15	2038	c.1764C>G	c.(1762-1764)atC>atG	p.I588M	IQCA1_ENST00000431676.2_Missense_Mutation_p.I547M|IQCA1_ENST00000309507.5_Missense_Mutation_p.I585M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	588							ATP binding (GO:0005524)	p.I596M(1)|p.I588M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTCGGTGCAGATGGCATGGA	0.507																																																	2	Substitution - Missense(2)	cervix(2)											179.0	177.0	178.0					2																	237272528		2000	4159	6159	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1764C>G	2.37:g.237272528G>C	ENSP00000387347:p.Ile588Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.I588M	ENST00000409907.3	37	c.1764	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094376	0.56075	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.90133	-2.62;-2.62;-2.62	4.66	3.71	0.42584	ATPase, AAA-type, core (1);	0.190318	0.34802	N	0.003675	D	0.93539	0.7938	M	0.79011	2.435	0.39156	D	0.962314	P;B;P	0.46621	0.787;0.433;0.881	P;B;P	0.56216	0.794;0.411;0.672	D	0.94673	0.7858	10	0.59425	D	0.04	.	13.7288	0.62774	0.0:0.277:0.723:0.0	.	547;596;588	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	M	588;596;585;547;585	ENSP00000387347:I588M;ENSP00000311951:I585M;ENSP00000407213:I547M	ENSP00000254653:I589M	I	-	3	3	IQCA1	236937267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.156000	0.42310	2.128000	0.65567	0.561000	0.74099	ATC	IQCA1	-	pfam_ATPase_AAA_core		0.507	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	G	NM_024726		237272528	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	1.000	C
ITGA7	3679	genome.wustl.edu	37	12	56091557	56091557	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56091557G>A	ENST00000555728.1	-	10	1491	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	ITGA7_ENST00000257879.6_Missense_Mutation_p.S444L|ITGA7_ENST00000394229.2_Missense_Mutation_p.S444L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S444L|ITGA7_ENST00000394230.2_Missense_Mutation_p.S448L|ITGA7_ENST00000257880.7_Missense_Mutation_p.S488L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S351L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S448L			Q13683	ITA7_HUMAN	integrin, alpha 7	488					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.S448L(1)|p.S444L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAAGCTGCCTGACAGGGAGTA	0.607																																																	2	Substitution - Missense(2)	cervix(2)											91.0	89.0	90.0					12																	56091557		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1463C>T	12.37:g.56091557G>A	ENSP00000452387:p.Ser488Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S488L	ENST00000555728.1	37	c.1463		12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028715	0.75504	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000008	T	0.81964	0.4934	M	0.76938	2.355	0.80722	D	1	D;P;P;D	0.58620	0.97;0.95;0.84;0.983	P;P;P;P	0.61201	0.885;0.77;0.713;0.849	D	0.85158	0.0990	10	0.87932	D	0	.	14.6156	0.68547	0.0:0.0:1.0:0.0	.	351;488;448;507	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	L	448;444;444;351;488;448;444;488;488	ENSP00000452120:S448L;ENSP00000257879:S444L;ENSP00000343009:S444L;ENSP00000393844:S351L;ENSP00000257880:S488L;ENSP00000377777:S448L;ENSP00000377776:S444L;ENSP00000452387:S488L	ENSP00000257879:S444L	S	-	2	0	ITGA7	54377824	0.859000	0.29813	0.898000	0.35279	0.235000	0.25334	4.490000	0.60319	2.130000	0.65690	0.561000	0.74099	TCA	ITGA7	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.607	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56091557	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	missense	SNP	0.999	A
ITGAE	3682	genome.wustl.edu	37	17	3661017	3661017	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:3661017C>T	ENST00000263087.4	-	9	1101	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	335	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E335K(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCAAAGCGCTCAACACCCTGC	0.577																																					NSCLC(182;635 2928 8995 38788)												1	Substitution - Missense(1)	cervix(1)											211.0	209.0	210.0					17																	3661017		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1003G>A	17.37:g.3661017C>T	ENSP00000263087:p.Glu335Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.E335K	ENST00000263087.4	37	c.1003	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707029	0.68615	.	.	ENSG00000083457	ENST00000263087	D	0.83163	-1.69	5.56	5.56	0.83823	von Willebrand factor, type A (3);	.	.	.	.	D	0.84028	0.5382	M	0.73319	2.225	0.27943	N	0.937455	B	0.34103	0.437	B	0.35550	0.205	T	0.79825	-0.1640	9	0.54805	T	0.06	.	17.3887	0.87424	0.0:1.0:0.0:0.0	.	335	P38570	ITAE_HUMAN	K	335	ENSP00000263087:E335K	ENSP00000263087:E335K	E	-	1	0	ITGAE	3607766	0.990000	0.36364	0.988000	0.46212	0.928000	0.56348	2.502000	0.45398	2.787000	0.95880	0.514000	0.50259	GAG	ITGAE	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.577	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	C	NM_002208		3661017	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	missense	SNP	0.997	T
KCNE3	10008	genome.wustl.edu	37	11	74168589	74168589	+	Missense_Mutation	SNP	G	G	A	rs547194943	byFrequency	TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:74168589G>A	ENST00000310128.4	-	3	439	c.20C>T	c.(19-21)aCg>aTg	p.T7M	KCNE3_ENST00000525550.1_Missense_Mutation_p.T7M|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	7					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.T7M(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCAGGTCTCCGTTCCATTGGT	0.567													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19484	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)											71.0	68.0	69.0					11																	74168589		2200	4293	6493	SO:0001583	missense	10008			AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.20C>T	11.37:g.74168589G>A	ENSP00000310557:p.Thr7Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE3,prints_K_chnl_volt-dep_bsu_KCNE	p.T7M	ENST00000310128.4	37	c.20	CCDS8232.1	11	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047456	0.19827	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569;ENST00000531854;ENST00000529425;ENST00000526855	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.17;-1.83	4.94	4.94	0.65067	.	0.230758	0.38058	N	0.001833	T	0.73401	0.3582	N	0.11560	0.145	0.32630	N	0.522144	B	0.20164	0.042	B	0.16722	0.016	T	0.72304	-0.4333	10	0.33141	T	0.24	-10.658	9.4216	0.38555	0.0949:0.0:0.9051:0.0	.	7	Q9Y6H6	KCNE3_HUMAN	M	7	ENSP00000310557:T7M;ENSP00000433633:T7M;ENSP00000431739:T7M;ENSP00000433697:T7M;ENSP00000434890:T7M	ENSP00000310557:T7M	T	-	2	0	KCNE3	73846237	1.000000	0.71417	0.848000	0.33437	0.127000	0.20565	4.508000	0.60441	2.717000	0.92951	0.462000	0.41574	ACG	KCNE3	-	prints_K_chnl_volt-dep_bsu_KCNE3		0.567	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE3	HGNC	protein_coding	OTTHUMT00000385531.1	G	NM_005472		74168589	-1	no_errors	ENST00000310128	ensembl	human	known	70_37	missense	SNP	0.814	A
KDM6A	7403	genome.wustl.edu	37	X	44942757	44942757	+	Missense_Mutation	SNP	G	G	A	rs367925808		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:44942757G>A	ENST00000377967.4	+	23	3378	c.3337G>A	c.(3337-3339)Gta>Ata	p.V1113I	KDM6A_ENST00000382899.4_Missense_Mutation_p.V1120I|KDM6A_ENST00000543216.1_Missense_Mutation_p.V1034I|KDM6A_ENST00000536777.1_Missense_Mutation_p.V1068I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1113	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.V1113I(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGTGCGTGTCGTATCAGCAGG	0.418			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	7	Whole gene deletion(6)|Substitution - Missense(1)	oesophagus(2)|breast(2)|pancreas(2)|cervix(1)						G	ILE/VAL	0,3835		0,0,1632,571	154.0	112.0	126.0		3337	5.2	1.0	X		126	1,6727		0,1,2427,1872	no	missense	KDM6A	NM_021140.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	1113/1402	44942757	1,10562	2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3337G>A	X.37:g.44942757G>A	ENSP00000367203:p.Val1113Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1120I	ENST00000377967.4	37	c.3358	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.448046|3.448046	0.63178|0.63178	0.0|0.0	1.49E-4|1.49E-4	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.057504	.|0.64402	.|D	.|0.000002	T|T	0.77089|0.77089	0.4079|0.4079	L|L	0.41573|0.41573	1.285|1.285	0.80722|0.80722	D|D	1|1	.|D;B;B;B;P	.|0.63046	.|0.992;0.148;0.322;0.308;0.545	.|P;B;B;B;B	.|0.59825	.|0.864;0.023;0.123;0.043;0.245	T|T	0.80072|0.80072	-0.1535|-0.1535	5|10	.|0.87932	.|D	.|0	-4.0996|-4.0996	17.96|17.96	0.89082|0.89082	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|752;1120;1068;1165;1113	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	H|I	710;755|810;1113;1068;1120;1034	.|ENSP00000367203:V1113I;ENSP00000437405:V1068I;ENSP00000372355:V1120I;ENSP00000443078:V1034I	.|ENSP00000334340:V810I	R|V	+|+	2|1	0|0	KDM6A|KDM6A	44827701|44827701	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	6.264000|6.264000	0.72527|0.72527	2.175000|2.175000	0.68902|0.68902	0.583000|0.583000	0.79449|0.79449	CGT|GTA	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom		0.418	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	G	NM_021140		44942757	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1324	57535	genome.wustl.edu	37	1	109714534	109714534	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:109714534G>A	ENST00000369939.3	+	4	697	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	KIAA1324_ENST00000529753.1_Missense_Mutation_p.E172K	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	172					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.E172K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CAACACGGACGAATGCACAGC	0.532																																																	1	Substitution - Missense(1)	cervix(1)											122.0	97.0	106.0					1																	109714534		2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.514G>A	1.37:g.109714534G>A	ENSP00000358955:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E172K	ENST00000369939.3	37	c.514	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.135353	0.94517	.	.	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.99	5.99	0.97316	.	0.048155	0.85682	D	0.000000	T	0.47040	0.1424	M	0.61703	1.905	0.44181	D	0.996999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.999	T	0.07271	-1.0781	10	0.30078	T	0.28	-13.8172	20.0857	0.97800	0.0:0.0:1.0:0.0	.	172;172;172;172	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	K	172	ENSP00000431349:E172K;ENSP00000358955:E172K;ENSP00000393964:E172K;ENSP00000434595:E172K	ENSP00000358955:E172K	E	+	1	0	KIAA1324	109516057	1.000000	0.71417	0.984000	0.44739	0.892000	0.51952	9.791000	0.99081	2.844000	0.97970	0.650000	0.86243	GAA	KIAA1324	-	superfamily_Growth_fac_rcpt		0.532	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	G	NM_020775		109714534	+1	no_errors	ENST00000369939	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA2026	158358	genome.wustl.edu	37	9	5923062	5923062	+	Silent	SNP	C	C	T	rs533069462		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:5923062C>T	ENST00000399933.3	-	8	2933	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	KIAA2026_ENST00000381461.2_Silent_p.K948K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	978								p.K153K(1)|p.K978K(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCTCTGTATGCTTTGATTCAC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		21782	0.0		0.0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	cervix(2)											170.0	158.0	162.0					9																	5923062		1914	4151	6065	SO:0001819	synonymous_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2934G>A	9.37:g.5923062C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.K978	ENST00000399933.3	37	c.2934		9																																																																																			KIAA2026	-	NULL		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		5923062	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	silent	SNP	0.683	T
KNTC1	9735	genome.wustl.edu	37	12	123087422	123087422	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:123087422G>A	ENST00000333479.7	+	47	5049	c.4872G>A	c.(4870-4872)tcG>tcA	p.S1624S	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.S49S|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1624					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.S1624S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCTTAATTTCGAAATTAATGA	0.328																																																	1	Substitution - coding silent(1)	cervix(1)											118.0	111.0	113.0					12																	123087422		1809	4076	5885	SO:0001819	synonymous_variant	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4872G>A	12.37:g.123087422G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C4|B3KSG2	Silent	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.S1624	ENST00000333479.7	37	c.4872	CCDS45002.1	12																																																																																			KNTC1	-	pfam_RZZ-complex_KNTC1/ROD_C		0.328	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123087422	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	silent	SNP	0.115	A
LCA5L	150082	genome.wustl.edu	37	21	40795190	40795190	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr21:40795190C>G	ENST00000358268.2	-	5	1077	c.549G>C	c.(547-549)ttG>ttC	p.L183F	LCA5L_ENST00000380671.2_Missense_Mutation_p.L183F|LCA5L_ENST00000288350.3_Missense_Mutation_p.L183F|LCA5L_ENST00000485895.2_Missense_Mutation_p.L183F			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	183								p.L183F(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTATAGCTTTCAAATGCCTAA	0.289																																																	2	Substitution - Missense(2)	cervix(2)											82.0	78.0	80.0					21																	40795190		2202	4300	6502	SO:0001583	missense	150082			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.549G>C	21.37:g.40795190C>G	ENSP00000351008:p.Leu183Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.L183F	ENST00000358268.2	37	c.549	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804917	0.50315	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.95	4.06	0.47325	.	0.266630	0.26895	N	0.021958	D	0.83128	0.5187	M	0.61703	1.905	0.30124	N	0.805455	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.78460	-0.2195	10	0.56958	D	0.05	-3.6865	5.7438	0.18108	0.0:0.6247:0.1451:0.2302	.	183;183	C9JFB6;O95447	.;LCA5L_HUMAN	F	183	ENSP00000288350:L183F;ENSP00000370046:L183F;ENSP00000351008:L183F;ENSP00000404521:L183F	ENSP00000288350:L183F	L	-	3	2	LCA5L	39717060	0.327000	0.24678	1.000000	0.80357	0.981000	0.71138	0.152000	0.16302	1.206000	0.43276	0.655000	0.94253	TTG	LCA5L	-	NULL		0.289	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	C	NM_152505		40795190	-1	no_errors	ENST00000288350	ensembl	human	known	70_37	missense	SNP	0.997	G
MRC1	4360	genome.wustl.edu	37	10	17927340	17927340	+	Silent	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:17927340C>G	ENST00000331429.2	+	22	3145	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGAATGATGTCAATTCAGAAC	0.418																																																	0													3.0	3.0	3.0					10																	17927340		1563	3573	5136	SO:0001819	synonymous_variant	101060092																														ENST00000331429.2:c.3042C>G	10.37:g.17927340C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.V1014	ENST00000331429.2	37	c.3042		10																																																																																			MRC1L1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.418	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	LOC101060092	Clone_based_vega_gene	protein_coding	OTTHUMT00000047054.1	C			17927340	+1	no_errors	ENST00000331429	ensembl	human	novel	70_37	silent	SNP	0.974	G
LRP2	4036	genome.wustl.edu	37	2	170022443	170022443	+	Splice_Site	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:170022443G>C	ENST00000263816.3	-	62	12042	c.11757C>G	c.(11755-11757)caC>caG	p.H3919Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3919	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.H3919Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTGCTTACAGTGCTCCTCTG	0.453																																																	1	Substitution - Missense(1)	cervix(1)											247.0	232.0	237.0					2																	170022443		2203	4300	6503	SO:0001630	splice_region_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11758+1C>G	2.37:g.170022443G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H3919Q	ENST00000263816.3	37	c.11757	CCDS2232.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.912|5.912	0.352280|0.352280	0.11182|0.11182	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000263816|ENST00000536293	D|.	0.95272|.	-3.66|.	6.06|6.06	2.13|2.13	0.27403|0.27403	Low-density lipoprotein (LDL) receptor class A, conserved site (1);|.	0.758622|.	0.13461|.	N|.	0.386116|.	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.04297|0.04297	-0.235|-0.235	0.80722|0.80722	D|D	1|1	B|.	0.18310|.	0.027|.	B|.	0.17433|.	0.018|.	T|T	0.06570|0.06570	-1.0819|-1.0819	10|6	0.21014|0.08381	T|T	0.42|0.77	.|.	6.0937|6.0937	0.20008|0.20008	0.0599:0.32:0.4004:0.2197|0.0599:0.32:0.4004:0.2197	.|.	3919|.	P98164|.	LRP2_HUMAN|.	Q|S	3919|584	ENSP00000263816:H3919Q|.	ENSP00000263816:H3919Q|ENSP00000438157:T584S	H|T	-|-	3|2	2|0	LRP2|LRP2	169730689|169730689	1.000000|1.000000	0.71417|0.71417	0.288000|0.288000	0.24862|0.24862	0.306000|0.306000	0.27790|0.27790	1.286000|1.286000	0.33273|0.33273	0.105000|0.105000	0.17753|0.17753	-0.172000|-0.172000	0.13284|0.13284	CAC|ACT	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525	Missense_Mutation	170022443	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.740	C
LYL1	4066	genome.wustl.edu	37	19	13211489	13211489	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:13211489C>G	ENST00000264824.4	-	3	769	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	137					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E137Q(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			AGGTCCAGCTCACAGTGGCTT	0.562			T	TRB@	T-ALL																																			Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	1	Substitution - Missense(1)	cervix(1)											239.0	228.0	232.0					19																	13211489		2203	4300	6503	SO:0001583	missense	4066				CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.409G>C	19.37:g.13211489C>G	ENSP00000264824:p.Glu137Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O76102	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E137Q	ENST00000264824.4	37	c.409	CCDS12292.1	19	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878393	0.72294	.	.	ENSG00000104903	ENST00000264824	D	0.97959	-4.63	4.32	4.32	0.51571	.	0.000000	0.56097	D	0.000029	D	0.97958	0.9328	L	0.59436	1.845	0.30458	N	0.774624	D	0.76494	0.999	D	0.66716	0.946	D	0.96025	0.9012	10	0.62326	D	0.03	-21.9625	14.0828	0.64937	0.0:1.0:0.0:0.0	.	137	P12980	LYL1_HUMAN	Q	137	ENSP00000264824:E137Q	ENSP00000264824:E137Q	E	-	1	0	LYL1	13072489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	2.114000	0.64651	0.561000	0.74099	GAG	LYL1	-	NULL		0.562	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYL1	HGNC	protein_coding	OTTHUMT00000452827.1	C	NM_005583		13211489	-1	no_errors	ENST00000264824	ensembl	human	known	70_37	missense	SNP	1.000	G
LYSMD4	145748	genome.wustl.edu	37	15	100269463	100269463	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr15:100269463C>T	ENST00000409796.1	-	3	818	c.756G>A	c.(754-756)ttG>ttA	p.L252L	LYSMD4_ENST00000545021.1_Silent_p.L126L|LYSMD4_ENST00000344791.2_Silent_p.L253L|LYSMD4_ENST00000332728.4_Silent_p.L252L|LYSMD4_ENST00000604213.1_Intron	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	252						integral component of membrane (GO:0016021)		p.L253L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CAGTTGTGTTCAAGCTATTAG	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											122.0	117.0	119.0					15																	100269463		2203	4300	6503	SO:0001819	synonymous_variant	145748			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.756G>A	15.37:g.100269463C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NII6|A8K2N1|Q96LY7	Silent	SNP	NULL	p.L253	ENST00000409796.1	37	c.759		15																																																																																			LYSMD4	-	NULL		0.478	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000335634.1	C	NM_152449		100269463	-1	no_errors	ENST00000344791	ensembl	human	known	70_37	silent	SNP	0.917	T
MAP3K9	4293	genome.wustl.edu	37	14	71267429	71267429	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:71267429C>T	ENST00000554752.2	-	2	774	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MAP3K9_ENST00000381250.4_Missense_Mutation_p.E259K|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E259K	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E259K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACAATTGCCTCATCATGTAAG	0.498																																					GBM(114;411 1587 13539 28235 50070)												1	Substitution - Missense(1)	cervix(1)											136.0	119.0	125.0					14																	71267429		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.775G>A	14.37:g.71267429C>T	ENSP00000451612:p.Glu259Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,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.E259K	ENST00000554752.2	37	c.775		14	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646287	0.87958	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	T;T	0.81078	-1.45;-1.45	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.050581	0.85682	D	0.000000	T	0.74183	0.3683	N	0.01742	-0.745	0.80722	D	1	P;P	0.42961	0.795;0.746	P;P	0.53549	0.714;0.729	T	0.81210	-0.1036	10	0.54805	T	0.06	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	259;259	P80192;P80192-4	M3K9_HUMAN;.	K	259	ENSP00000451612:E259K;ENSP00000370649:E259K	ENSP00000005198:E259K	E	-	1	0	MAP3K9	70337182	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.572000	0.45999	2.814000	0.96858	0.655000	0.94253	GAG	MAP3K9	-	pirsf_MAPKKK9/10/11,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.498	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	C			71267429	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP7D1	55700	genome.wustl.edu	37	1	36643631	36643631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:36643631G>T	ENST00000373151.2	+	9	1753	c.1537G>T	c.(1537-1539)Gag>Tag	p.E513*	MAP7D1_ENST00000373148.4_Nonsense_Mutation_p.E59*|MAP7D1_ENST00000316156.4_Nonsense_Mutation_p.E476*|MAP7D1_ENST00000373150.4_Nonsense_Mutation_p.E481*	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	513	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.E513*(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GAGGAAGGAGGAGGCAAAGGA	0.701																																																	1	Substitution - Nonsense(1)	cervix(1)											40.0	41.0	40.0					1																	36643631		2203	4300	6503	SO:0001587	stop_gained	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1537G>T	1.37:g.36643631G>T	ENSP00000362244:p.Glu513*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Nonsense_Mutation	SNP	pfam_E-MAP-115	p.E513*	ENST00000373151.2	37	c.1537	CCDS30673.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.896439|3.896439	0.72639|0.72639	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151;ENST00000373148|ENST00000530975	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.42420|.	D|.	0.000708|.	.|T	.|0.63803	.|0.2542	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69091	.|-0.5237	.|3	0.39692|.	T|.	0.17|.	-23.5343|-23.5343	13.7522|13.7522	0.62915|0.62915	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	476;481;513;59|95	.|.	ENSP00000320228:E476X|.	E|G	+|+	1|2	0|0	MAP7D1|MAP7D1	36416218|36416218	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.304000|0.304000	0.27724|0.27724	5.140000|5.140000	0.64807|0.64807	2.623000|2.623000	0.88846|0.88846	0.655000|0.655000	0.94253|0.94253	GAG|GGA	MAP7D1	-	NULL		0.701	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	G	NM_018067		36643631	+1	no_errors	ENST00000373151	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90396657	90396657	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:90396657C>G	ENST00000369393.3	-	69	11651	c.11536G>C	c.(11536-11538)Gag>Cag	p.E3846Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E3846Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3846					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E3846Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGTGCTTCTCAAGCATCTGA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											187.0	170.0	176.0					6																	90396657		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11536G>C	6.37:g.90396657C>G	ENSP00000358400:p.Glu3846Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E3846Q	ENST00000369393.3	37	c.11536	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118417	0.77323	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.17319	-1.0373	10	0.26408	T	0.33	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	3846	Q9NU22	MDN1_HUMAN	Q	3846	ENSP00000358400:E3846Q;ENSP00000413970:E3846Q	ENSP00000358400:E3846Q	E	-	1	0	MDN1	90453378	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.776000	0.85560	2.807000	0.96579	0.591000	0.81541	GAG	MDN1	-	pirsf_Midasin		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90396657	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	G
METTL12	751071	genome.wustl.edu	37	11	62432882	62432882	+	Intron	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:62432882G>A	ENST00000532971.1	+	1	24				SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000524958.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12							mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GCTCTGGGCGGGGTCTCAGGA	0.642																																																	0													7.0	8.0	8.0					11																	62432882		873	1984	2857	SO:0001627	intron_variant	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.-234+78G>A	11.37:g.62432882G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C1	RNA	SNP	-	NULL	ENST00000532971.1	37	NULL	CCDS41657.1	11																																																																																			METTL12	-	-		0.642	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	G	NM_001043229		62432882	+1	no_errors	ENST00000594728	ensembl	human	known	70_37	rna	SNP	0.000	A
MIS18BP1	55320	genome.wustl.edu	37	14	45693467	45693467	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:45693467C>G	ENST00000310806.4	-	11	2781	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	775					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E775Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTTTCACTTTCTTCACTTGAC	0.348																																																	1	Substitution - Missense(1)	cervix(1)											119.0	118.0	118.0					14																	45693467		2203	4300	6503	SO:0001583	missense	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2323G>C	14.37:g.45693467C>G	ENSP00000309790:p.Glu775Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E775Q	ENST00000310806.4	37	c.2323	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962904	0.53507	.	.	ENSG00000129534	ENST00000310806	T	0.23147	1.92	5.72	4.78	0.61160	.	0.545066	0.19630	N	0.109696	T	0.31796	0.0808	M	0.66939	2.045	0.31174	N	0.702876	D	0.53619	0.961	P	0.47206	0.541	T	0.36601	-0.9741	10	0.32370	T	0.25	-2.4018	9.8594	0.41105	0.0:0.8964:0.0:0.1036	.	775	Q6P0N0	M18BP_HUMAN	Q	775	ENSP00000309790:E775Q	ENSP00000309790:E775Q	E	-	1	0	MIS18BP1	44763217	0.389000	0.25205	0.827000	0.32855	0.792000	0.44763	1.470000	0.35354	1.426000	0.47256	0.655000	0.94253	GAA	MIS18BP1	-	NULL		0.348	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	C			45693467	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	missense	SNP	0.937	G
KMT2D	8085	genome.wustl.edu	37	12	49420492	49420492	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:49420492C>T	ENST00000301067.7	-	48	15256	c.15257G>A	c.(15256-15258)cGa>cAa	p.R5086Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5086					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4816Q(1)|p.R5086Q(1)									TAGCAGTCCTCGGTGCAGGGC	0.592																																																	2	Substitution - Missense(2)	cervix(2)											45.0	50.0	48.0					12																	49420492		2136	4244	6380	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15257G>A	12.37:g.49420492C>T	ENSP00000301067:p.Arg5086Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Missense_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_PHD-finger,pfscan_Znf_RING	p.R5086Q	ENST00000301067.7	37	c.15257	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018579	0.54576	.	.	ENSG00000167548	ENST00000301067	T	0.71341	-0.56	4.72	4.72	0.59763	.	0.000000	0.30020	N	0.010603	D	0.83815	0.5336	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86186	0.1609	10	0.87932	D	0	.	16.8307	0.85943	0.0:1.0:0.0:0.0	.	5086	O14686	MLL2_HUMAN	Q	5086	ENSP00000301067:R5086Q	ENSP00000301067:R5086Q	R	-	2	0	MLL2	47706759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.344000	0.79699	0.655000	0.94253	CGA	MLL2	-	NULL		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49420492	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10248901	10248901	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:10248901G>A	ENST00000418404.3	-	13	1459	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	MYH13_ENST00000252172.4_Silent_p.A432A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	432	Myosin motor.				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)	p.A432A(2)		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						TCTCGTAGACGGCTTTGGCCA	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											159.0	150.0	153.0					17																	10248901		2203	4300	6503	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.1296C>T	17.37:g.10248901G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	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.A432	ENST00000418404.3	37	c.1296	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.507	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	G	NM_003802		10248901	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	silent	SNP	0.692	A
MYH14	79784	genome.wustl.edu	37	19	50747551	50747551	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:50747551G>C	ENST00000596571.1	+	9	1143	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	MYH14_ENST00000440075.2_Missense_Mutation_p.K389N|MYH14_ENST00000262269.8_Missense_Mutation_p.K389N|MYH14_ENST00000376970.2_Missense_Mutation_p.K381N|MYH14_ENST00000425460.1_Missense_Mutation_p.K389N|MYH14_ENST00000601313.1_Missense_Mutation_p.K389N|MYH14_ENST00000598205.1_Missense_Mutation_p.K389N			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	381	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K381N(1)|p.K389N(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTGCCTTGAAGAGAGAACGGA	0.627																																																	2	Substitution - Missense(2)	cervix(2)											93.0	97.0	95.0					19																	50747551		2141	4243	6384	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1143G>C	19.37:g.50747551G>C	ENSP00000472819:p.Lys381Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K389N	ENST00000596571.1	37	c.1167	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514461	0.27123	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	3.42	2.38	0.29361	Myosin head, motor domain (2);	.	.	.	.	D	0.91583	0.7341	M	0.81341	2.54	0.36343	D	0.859574	D;D;D	0.69078	0.997;0.981;0.989	D;D;D	0.65323	0.934;0.917;0.923	D	0.92627	0.6113	9	0.87932	D	0	.	9.0491	0.36365	0.1128:0.0:0.8871:0.0	.	389;381;389	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	N	381;389;381;389;381;389	ENSP00000406273:K389N;ENSP00000366169:K381N;ENSP00000407879:K389N;ENSP00000262269:K389N	ENSP00000262269:K389N	K	+	3	2	MYH14	55439363	1.000000	0.71417	0.010000	0.14722	0.018000	0.09664	2.697000	0.47060	1.026000	0.39733	0.462000	0.41574	AAG	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	G	NM_024729		50747551	+1	no_errors	ENST00000262269	ensembl	human	known	70_37	missense	SNP	0.986	C
MYH6	4624	genome.wustl.edu	37	14	23869468	23869468	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:23869468C>T	ENST00000356287.3	-	13	1607	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	MYH6_ENST00000405093.3_Silent_p.E526E			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	526	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.E526E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAGGCACCTTCTCGATGAGGT	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											215.0	155.0	176.0					14																	23869468		2203	4300	6503	SO:0001819	synonymous_variant	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1578G>A	14.37:g.23869468C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	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.E526	ENST00000356287.3	37	c.1578	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	C			23869468	-1	no_errors	ENST00000356287	ensembl	human	known	70_37	silent	SNP	1.000	T
MYH7B	57644	genome.wustl.edu	37	20	33577924	33577927	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	TGAG	TGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:33577924_33577927delTGAG	ENST00000262873.7	+	19	2093_2096	c.2001_2004delTGAG	c.(1999-2004)tatgagfs	p.YE667fs	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	625	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACTCTCTATGAGAATTATGCGG	0.554																																																	0																																										SO:0001589	frameshift_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2001_2004delTGAG	20.37:g.33577924_33577927delTGAG	ENSP00000262873:p.Tyr667fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y667fs	ENST00000262873.7	37	c.2001_2004	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.554	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	TGAG	NM_020884		33577927	+1	no_errors	ENST00000262873	ensembl	human	novel	70_37	frame_shift_del	DEL	0.997:1.000:1.000:1.000	-
MYT1	4661	genome.wustl.edu	37	20	62853251	62853251	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr20:62853251G>C	ENST00000328439.1	+	14	2611	c.2247G>C	c.(2245-2247)gaG>gaC	p.E749D	MYT1_ENST00000536311.1_Missense_Mutation_p.E776D|MYT1_ENST00000360149.4_Missense_Mutation_p.E451D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E749D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGCAGTCAGAGCCAGCAGCCC	0.567																																					GBM(59;481 1041 20555 21139 33705)												1	Substitution - Missense(1)	cervix(1)											42.0	43.0	43.0					20																	62853251		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2247G>C	20.37:g.62853251G>C	ENSP00000327465:p.Glu749Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E776D	ENST00000328439.1	37	c.2328	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693823	0.68386	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.42513	0.97;0.97;0.97	5.12	5.12	0.69794	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	L	0.32530	0.975	0.53005	D	0.999962	B;B;D	0.69078	0.381;0.048;0.997	B;B;D	0.79108	0.23;0.07;0.992	T	0.44003	-0.9356	10	0.22109	T	0.4	-25.3392	18.5518	0.91068	0.0:0.0:1.0:0.0	.	776;749;451	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	D	451;749;776	ENSP00000353269:E451D;ENSP00000327465:E749D;ENSP00000442412:E776D	ENSP00000327465:E749D	E	+	3	2	MYT1	62323695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.930000	0.70104	2.396000	0.81511	0.655000	0.94253	GAG	MYT1	-	pfam_Myelin_TF		0.567	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	G	NM_004535		62853251	+1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	1.000	C
MYT1L	23040	genome.wustl.edu	37	2	1926313	1926313	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:1926313C>T	ENST00000399161.2	-	10	1975	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D410N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	410					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D410N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGGTATCGTCGTCCCGCTCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)											76.0	76.0	76.0					2																	1926313		2145	4240	6385	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1228G>A	2.37:g.1926313C>T	ENSP00000382114:p.Asp410Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D410N	ENST00000399161.2	37	c.1228		2	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299875	0.40694	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49432	0.78;0.78	5.97	5.97	0.96955	.	0.228619	0.51477	D	0.000090	T	0.32734	0.0839	N	0.24115	0.695	0.80722	D	1	P;P	0.51791	0.913;0.948	B;B	0.34138	0.085;0.176	T	0.10497	-1.0627	10	0.23891	T	0.37	-46.0885	20.4388	0.99107	0.0:1.0:0.0:0.0	.	410;410	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	410;358;410	ENSP00000382114:D410N;ENSP00000396103:D410N	ENSP00000295067:D358N	D	-	1	0	MYT1L	1905320	1.000000	0.71417	0.385000	0.26158	0.289000	0.27227	7.751000	0.85126	2.836000	0.97738	0.655000	0.94253	GAC	MYT1L	-	NULL		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1926313	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	0.997	T
NCAM2	4685	genome.wustl.edu	37	21	22746206	22746206	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr21:22746206C>T	ENST00000400546.1	+	9	1317	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V	NCAM2_ENST00000535285.1_Silent_p.V381V|NCAM2_ENST00000284894.7_Silent_p.V214V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	356	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V356V(2)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTATCGAAGTCAAAGGGCAGC	0.423																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											140.0	131.0	134.0					21																	22746206		1926	4122	6048	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1068C>T	21.37:g.22746206C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.V356	ENST00000400546.1	37	c.1068	CCDS42910.1	21																																																																																			NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.423	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	C	NM_004540		22746206	+1	no_errors	ENST00000400546	ensembl	human	known	70_37	silent	SNP	0.999	T
NCOR1	9611	genome.wustl.edu	37	17	15976884	15976884	+	Splice_Site	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:15976884C>T	ENST00000268712.3	-	28	3928		c.e28-1		NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCTTAATATCTACAGAATAC	0.348																																																	1	Unknown(1)	cervix(1)											77.0	69.0	72.0					17																	15976884		2203	4300	6503	SO:0001630	splice_region_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3671-1G>A	17.37:g.15976884C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	-	e27-1	ENST00000268712.3	37	c.3671-1	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243157	0.79912	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15917609	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	6.348000	0.73009	2.808000	0.96608	0.655000	0.94253	.	NCOR1	-	-		0.348	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	C	NM_006311	Intron	15976884	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	splice_site	SNP	1.000	T
NDST4	64579	genome.wustl.edu	37	4	115998171	115998171	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:115998171G>A	ENST00000264363.2	-	2	700	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	8					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R8W(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAACTTCTCCGAAGTTTCACA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											21.0	22.0	22.0					4																	115998171		2202	4299	6501	SO:0001583	missense	64579			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.22C>T	4.37:g.115998171G>A	ENSP00000264363:p.Arg8Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R8W	ENST00000264363.2	37	c.22	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692943	0.68271	.	.	ENSG00000138653	ENST00000264363	T	0.38722	1.12	5.12	5.12	0.69794	.	0.263218	0.37669	N	0.001986	T	0.42471	0.1204	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.48677	0.586	T	0.34625	-0.9821	10	0.52906	T	0.07	.	13.5255	0.61593	0.0:0.0:0.8439:0.1561	.	8	Q9H3R1	NDST4_HUMAN	W	8	ENSP00000264363:R8W	ENSP00000264363:R8W	R	-	1	2	NDST4	116217620	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	6.609000	0.74173	2.377000	0.81083	0.411000	0.27672	CGG	NDST4	-	NULL		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	G	NM_022569		115998171	-1	no_errors	ENST00000264363	ensembl	human	known	70_37	missense	SNP	1.000	A
NF1	4763	genome.wustl.edu	37	17	29553644	29553644	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:29553644C>T	ENST00000358273.4	+	18	2576	c.2193C>T	c.(2191-2193)ctC>ctT	p.L731L	NF1_ENST00000356175.3_Silent_p.L731L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	731					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.L731L(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCATAACCTCTTGCCCAACT	0.458			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - coding silent(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|cervix(2)|lung(1)											134.0	118.0	124.0					17																	29553644		2203	4300	6503	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2193C>T	17.37:g.29553644C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L731	ENST00000358273.4	37	c.2193	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold		0.458	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29553644	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	silent	SNP	1.000	T
NF1	4763	genome.wustl.edu	37	17	29554588	29554588	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:29554588C>G	ENST00000358273.4	+	20	2756	c.2373C>G	c.(2371-2373)atC>atG	p.I791M	NF1_ENST00000356175.3_Missense_Mutation_p.I791M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	791					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.I791M(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAGCTAATCCTTAACTATC	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|cervix(2)|lung(1)											100.0	87.0	92.0					17																	29554588		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2373C>G	17.37:g.29554588C>G	ENSP00000351015:p.Ile791Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.I791M	ENST00000358273.4	37	c.2373	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	.	16.17	3.047453	0.55110	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.66638	-0.22;-0.22;2.89	4.83	1.71	0.24356	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	L	0.27053	0.805	0.80722	D	1	P;D;B	0.60575	0.929;0.988;0.369	P;D;B	0.69654	0.606;0.965;0.075	T	0.62914	-0.6753	10	0.72032	D	0.01	.	5.1719	0.15114	0.1441:0.6299:0.0:0.226	.	791;791;791	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	M	791;791;457	ENSP00000351015:I791M;ENSP00000348498:I791M;ENSP00000389907:I457M	ENSP00000348498:I791M	I	+	3	3	NF1	26578714	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.352000	0.20113	0.194000	0.20326	-0.158000	0.13435	ATC	NF1	-	superfamily_ARM-type_fold		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29554588	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	0.998	G
NF1	4763	genome.wustl.edu	37	17	29556206	29556206	+	Missense_Mutation	SNP	C	C	A	rs369493270		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:29556206C>A	ENST00000358273.4	+	21	2956	c.2573C>A	c.(2572-2574)tCt>tAt	p.S858Y	NF1_ENST00000356175.3_Missense_Mutation_p.S858Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	858					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.S858Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGCAATTCTGGCCTGGCA	0.507			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|cervix(2)|lung(1)											46.0	44.0	45.0					17																	29556206		2203	4298	6501	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2573C>A	17.37:g.29556206C>A	ENSP00000351015:p.Ser858Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S858Y	ENST00000358273.4	37	c.2573	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	.	14.67	2.603315	0.46423	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.09817	3.08;3.23;2.94	5.59	4.42	0.53409	Armadillo-type fold (1);	0.240122	0.44097	D	0.000498	T	0.10852	0.0265	L	0.42245	1.32	0.80722	D	1	B;B;B	0.32939	0.391;0.115;0.001	B;B;B	0.31101	0.109;0.124;0.006	T	0.05007	-1.0912	10	0.59425	D	0.04	.	13.1458	0.59461	0.0:0.867:0.0:0.133	.	858;858;858	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	Y	858;858;524	ENSP00000351015:S858Y;ENSP00000348498:S858Y;ENSP00000389907:S524Y	ENSP00000348498:S858Y	S	+	2	0	NF1	26580332	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.087000	0.50167	2.634000	0.89283	0.555000	0.69702	TCT	NF1	-	superfamily_ARM-type_fold		0.507	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29556206	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	A
NFE2L2	4780	genome.wustl.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:178098799T>A	ENST00000397062.3	-	2	800	c.246A>T	c.(244-246)gaA>gaT	p.E82D	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	9	Substitution - Missense(8)|Deletion - In frame(1)	endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)											138.0	137.0	137.0					2																	178098799		1903	4104	6007	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>T	2.37:g.178098799T>A	ENSP00000380252:p.Glu82Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E82D	ENST00000397062.3	37	c.246	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816244	0.90790	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA	NFE2L2	-	NULL		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	T	NM_006164		178098799	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	A
NOTCH1	4851	genome.wustl.edu	37	9	139399781	139399781	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:139399781G>A	ENST00000277541.6	-	25	4642	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1523					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|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 of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTTCCGCACGCTGGCAGTCA	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													18.0	21.0	20.0					9																	139399781		2121	4241	6362	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4567C>T	9.37:g.139399781G>A	ENSP00000277541:p.Arg1523Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.R1523C	ENST00000277541.6	37	c.4567	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958496	0.34565	.	.	ENSG00000148400	ENST00000277541	T	0.64803	-0.12	4.08	-1.36	0.09085	Notch domain (2);	0.696284	0.13836	U	0.359348	T	0.51652	0.1687	L	0.47716	1.5	0.42433	D	0.992689	P	0.50272	0.933	P	0.45232	0.474	T	0.51148	-0.8742	10	0.48119	T	0.1	.	5.9201	0.19078	0.0:0.3615:0.249:0.3894	.	1523	P46531	NOTC1_HUMAN	C	1523	ENSP00000277541:R1523C	ENSP00000277541:R1523C	R	-	1	0	NOTCH1	138519602	0.965000	0.33210	0.145000	0.22337	0.406000	0.30931	1.698000	0.37794	-0.154000	0.11118	0.579000	0.79373	CGT	NOTCH1	-	smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139399781	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.353	A
NRXN1	9378	genome.wustl.edu	37	2	51255079	51255079	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:51255079G>A	ENST00000406316.2	-	2	1809	c.333C>T	c.(331-333)gaC>gaT	p.D111D	NRXN1_ENST00000402717.3_Silent_p.D111D|NRXN1_ENST00000405472.3_Silent_p.D111D|NRXN1_ENST00000404971.1_Silent_p.D111D|NRXN1_ENST00000405581.1_Silent_p.D111D|NRXN1_ENST00000401669.2_Silent_p.D111D|NRXN1_ENST00000406859.3_Silent_p.D111D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	111	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.D111D(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGGCGCCGTCGTTAACCG	0.662																																																	3	Substitution - coding silent(3)	cervix(3)											22.0	27.0	25.0					2																	51255079		2057	4196	6253	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.333C>T	2.37:g.51255079G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.D111	ENST00000406316.2	37	c.333	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	G			51255079	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	A
NPAS2	4862	genome.wustl.edu	37	2	101611992	101611992	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:101611992G>A	ENST00000335681.5	+	21	2708	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	NPAS2_ENST00000542504.1_Missense_Mutation_p.R873Q|AC016738.4_ENST00000452364.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	808					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R808Q(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTCCTCCCCGAAGGGTCAGC	0.617																																																	1	Substitution - Missense(1)	cervix(1)											36.0	39.0	38.0					2																	101611992		2203	4299	6502	SO:0001583	missense	4862			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2423G>A	2.37:g.101611992G>A	ENSP00000338283:p.Arg808Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_dom,tigrfam_PAS	p.R873Q	ENST00000335681.5	37	c.2618	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630579	0.28978	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.04862	3.58;3.54	4.67	3.78	0.43462	.	0.839693	0.10553	N	0.661160	T	0.04092	0.0114	L	0.36672	1.1	0.30692	N	0.751209	P;B	0.37997	0.614;0.313	B;B	0.23150	0.044;0.011	T	0.12192	-1.0557	10	0.21540	T	0.41	.	5.8433	0.18645	0.1631:0.1669:0.67:0.0	.	873;808	F5H027;Q99743	.;NPAS2_HUMAN	Q	808;873	ENSP00000338283:R808Q;ENSP00000438428:R873Q	ENSP00000338283:R808Q	R	+	2	0	NPAS2	100978424	0.994000	0.37717	0.970000	0.41538	0.267000	0.26476	2.442000	0.44873	2.148000	0.66965	0.655000	0.94253	CGA	NPAS2	-	NULL		0.617	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	G			101611992	+1	no_errors	ENST00000542504	ensembl	human	known	70_37	missense	SNP	0.901	A
OBSCN	84033	genome.wustl.edu	37	1	228486166	228486166	+	Intron	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:228486166C>T	ENST00000422127.1	+	43	11703				OBSCN_ENST00000570156.2_Nonsense_Mutation_p.R4320*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R2738*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.R1010*|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R3945*(1)|p.R4075*(1)|p.R4174*(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGCCTGCACGATTCACTCA	0.547																																																	3	Substitution - Nonsense(3)	cervix(3)											265.0	231.0	241.0					1																	228486166		876	1991	2867	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+3422C>T	1.37:g.228486166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R1010*	ENST00000422127.1	37	c.3028	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	62	70.598673	0.99992	.	.	ENSG00000154358	ENST00000366707;ENST00000359599	.	.	.	4.59	-5.47	0.02600	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	7.6826	0.28522	0.1963:0.5852:0.0628:0.1556	.	.	.	.	X	1010;2738	.	ENSP00000352613:R2738X	R	+	1	2	OBSCN	226552789	0.000000	0.05858	0.000000	0.03702	0.806000	0.45545	-4.266000	0.00263	-1.235000	0.02545	-0.448000	0.05591	CGA	OBSCN	-	pfam_Ig_I-set,pfscan_Ig-like		0.547	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228486166	+1	no_errors	ENST00000366707	ensembl	human	known	70_37	nonsense	SNP	0.000	T
OR8B8	26493	genome.wustl.edu	37	11	124310460	124310460	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:124310460G>A	ENST00000328064.2	-	1	594	c.522C>T	c.(520-522)gtC>gtT	p.V174V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	174					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V174V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTAGTGGTTGACAAGGTTAT	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											161.0	130.0	140.0					11																	124310460		2201	4299	6500	SO:0001819	synonymous_variant	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.522C>T	11.37:g.124310460G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L446|Q96RC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V174	ENST00000328064.2	37	c.522	CCDS8446.1	11																																																																																			OR8B8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.493	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	G	NM_012378		124310460	-1	no_errors	ENST00000328064	ensembl	human	putative	70_37	silent	SNP	0.012	A
OTUD6A	139562	genome.wustl.edu	37	X	69282720	69282720	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:69282720G>C	ENST00000338352.2	+	1	380	c.346G>C	c.(346-348)Gag>Cag	p.E116Q		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	116					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.E116Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTTCCAGGCTGAGATGTCGGA	0.622																																																	1	Substitution - Missense(1)	cervix(1)											25.0	21.0	22.0					X																	69282720		2187	4282	6469	SO:0001583	missense	139562			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.346G>C	X.37:g.69282720G>C	ENSP00000339389:p.Glu116Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPB7	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E116Q	ENST00000338352.2	37	c.346	CCDS14395.1	X	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551306	0.27739	.	.	ENSG00000189401	ENST00000338352	T	0.52754	0.65	4.06	2.21	0.28008	.	0.114545	0.56097	N	0.000021	T	0.40645	0.1125	L	0.33245	0.995	0.23616	N	0.997285	P	0.36222	0.544	B	0.42851	0.4	T	0.27331	-1.0077	10	0.39692	T	0.17	.	11.0926	0.48125	0.0:0.3639:0.6361:0.0	.	116	Q7L8S5	OTU6A_HUMAN	Q	116	ENSP00000339389:E116Q	ENSP00000339389:E116Q	E	+	1	0	OTUD6A	69199445	1.000000	0.71417	0.003000	0.11579	0.002000	0.02628	3.766000	0.55280	0.461000	0.27071	0.556000	0.70494	GAG	OTUD6A	-	NULL		0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	G	NM_207320		69282720	+1	no_errors	ENST00000338352	ensembl	human	known	70_37	missense	SNP	0.250	C
PALD1	27143	genome.wustl.edu	37	10	72298040	72298040	+	Missense_Mutation	SNP	C	C	T	rs368916968		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:72298040C>T	ENST00000263563.6	+	12	1596	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	443						cytosol (GO:0005829)		p.P443L(1)									CTGCAGTACCCGCTGGCCTTT	0.647																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/PRO	0,4406		0,0,2203	53.0	45.0	48.0		1328	2.5	1.0	10		48	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIAA1274	NM_014431.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	443/857	72298040	2,13004	2203	4300	6503	SO:0001583	missense	27143			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1328C>T	10.37:g.72298040C>T	ENSP00000263563:p.Pro443Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.P443L	ENST00000263563.6	37	c.1328	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	c	11.68	1.711019	0.30322	0.0	2.33E-4	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.31247	1.5	4.31	2.47	0.30058	.	0.232873	0.44483	N	0.000441	T	0.24774	0.0601	L	0.48362	1.52	0.58432	D	0.999999	B	0.23891	0.093	B	0.17979	0.02	T	0.04723	-1.0931	10	0.37606	T	0.19	-27.7841	10.0035	0.41942	0.0:0.8327:0.0:0.1673	.	443	Q9ULE6	PALD_HUMAN	L	443	ENSP00000263563:P443L	ENSP00000263563:P443L	P	+	2	0	KIAA1274	71968046	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	1.167000	0.31847	0.463000	0.27118	-0.254000	0.11334	CCG	PALD1	-	NULL		0.647	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	C	NM_014431		72298040	+1	no_errors	ENST00000263563	ensembl	human	known	70_37	missense	SNP	1.000	T
PC	5091	genome.wustl.edu	37	11	66618223	66618223	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:66618223C>T	ENST00000393958.2	-	17	2488	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.D799N|PC_ENST00000529047.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.D799N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	799	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.D799N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GACATGGAATCAGCTGCCACA	0.637																																																	1	Substitution - Missense(1)	cervix(1)											36.0	39.0	38.0					11																	66618223		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2395G>A	11.37:g.66618223C>T	ENSP00000377530:p.Asp799Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.D799N	ENST00000393958.2	37	c.2395	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314462	0.60524	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.97888	-4.59;-4.59;-4.59	4.41	4.41	0.53225	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.104805	0.64402	D	0.000007	D	0.98353	0.9453	M	0.78916	2.43	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.98186	1.0460	10	0.40728	T	0.16	-35.7824	14.5571	0.68109	0.0:1.0:0.0:0.0	.	799	P11498	PYC_HUMAN	N	799	ENSP00000377527:D799N;ENSP00000377530:D799N;ENSP00000377532:D799N	ENSP00000377527:D799N	D	-	1	0	PC	66374799	1.000000	0.71417	0.746000	0.31095	0.549000	0.35272	4.542000	0.60677	2.298000	0.77334	0.655000	0.94253	GAT	PC	-	pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase		0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	C	NM_001040716		66618223	-1	no_errors	ENST00000393958	ensembl	human	known	70_37	missense	SNP	0.994	T
PCDH9	5101	genome.wustl.edu	37	13	67801613	67801613	+	Silent	SNP	T	T	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr13:67801613T>C	ENST00000377865.2	-	1	1094	c.960A>G	c.(958-960)agA>agG	p.R320R	PCDH9_ENST00000544246.1_Silent_p.R320R|PCDH9_ENST00000328454.5_Silent_p.R320R|PCDH9_ENST00000456367.1_Silent_p.R320R|PCDH9_ENST00000377861.3_Silent_p.R320R			Q9HC56	PCDH9_HUMAN	protocadherin 9	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R320R(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGTCTCCTCTCTATCTAAGG	0.478																																																	1	Substitution - coding silent(1)	cervix(1)											96.0	96.0	96.0					13																	67801613		2203	4300	6503	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.960A>G	13.37:g.67801613T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R320	ENST00000377865.2	37	c.960	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.478	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	T	NM_203487		67801613	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	silent	SNP	1.000	C
PCDHGA6	56109	genome.wustl.edu	37	5	140755393	140755393	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:140755393C>T	ENST00000517434.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	581	Cadherin 6. {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)	p.S581S(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCGCTCCGCAGAGCCCG	0.667																																																	1	Substitution - coding silent(1)	cervix(1)											74.0	90.0	85.0					5																	140755393		2200	4295	6495	SO:0001819	synonymous_variant	56109			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1743C>T	5.37:g.140755393C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S581	ENST00000517434.1	37	c.1743	CCDS54926.1	5																																																																																			PCDHGA6	-	superfamily_Cadherin-like,pfscan_Cadherin		0.667	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	C	NM_018919		140755393	+1	no_errors	ENST00000517434	ensembl	human	known	70_37	silent	SNP	0.007	T
PKN1	5585	genome.wustl.edu	37	19	14554355	14554355	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:14554355G>A	ENST00000242783.6	+	3	561	c.396G>A	c.(394-396)gaG>gaA	p.E132E	PKN1_ENST00000342216.4_Silent_p.E138E|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	132					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.E132E(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CGGGCCTGGAGAAGCAGTTGG	0.647																																					NSCLC(185;2539 2965 10733 52867)												1	Substitution - coding silent(1)	cervix(1)											82.0	96.0	91.0					19																	14554355		2200	4300	6500	SO:0001819	synonymous_variant	5585			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.396G>A	19.37:g.14554355G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E138	ENST00000242783.6	37	c.414	CCDS42513.1	19																																																																																			PKN1	-	pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.647	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	G	NM_002741, NM_213560		14554355	+1	no_errors	ENST00000342216	ensembl	human	known	70_37	silent	SNP	1.000	A
C10orf55	414236	genome.wustl.edu	37	10	75672700	75672700	+	Intron	SNP	A	A	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:75672700A>T	ENST00000409178.1	-	3	301				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_Missense_Mutation_p.Y54F|PLAU_ENST00000372764.3_Missense_Mutation_p.Y71F|PLAU_ENST00000372762.4_Missense_Mutation_p.Y35F	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.Y71F(1)		endometrium(1)	1	Prostate(51;0.0112)					AAAACCTGCTATGAGGGGAAT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											56.0	54.0	54.0					10																	75672700		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.39+100T>A	10.37:g.75672700A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Y71F	ENST00000409178.1	37	c.212	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303567	0.40795	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.64085	-0.08;-0.08;-0.08	5.78	4.6	0.57074	Kringle (5);Kringle-like fold (1);	0.265833	0.39544	N	0.001330	T	0.56337	0.1978	L	0.49350	1.555	0.47778	D	0.999511	B;B;B;B	0.26512	0.018;0.01;0.074;0.151	B;B;B;B	0.33799	0.03;0.026;0.067;0.17	T	0.53570	-0.8420	10	0.29301	T	0.29	.	10.0269	0.42076	0.8316:0.1684:0.0:0.0	.	54;35;71;71	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	F	54;71;35;35	ENSP00000388474:Y54F;ENSP00000361850:Y71F;ENSP00000361848:Y35F	ENSP00000361847:Y35F	Y	+	2	0	PLAU	75342706	0.568000	0.26635	0.926000	0.36857	0.636000	0.38137	0.966000	0.29331	2.205000	0.71048	0.528000	0.53228	TAT	PLAU	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.463	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	A	NM_001001791		75672700	+1	no_errors	ENST00000372764	ensembl	human	known	70_37	missense	SNP	0.598	T
PLEC	5339	genome.wustl.edu	37	8	145024409	145024409	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:145024409G>A	ENST00000322810.4	-	1	635	c.466C>T	c.(466-468)Cct>Tct	p.P156S	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	156	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.P156S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGTAGCAGGCACCACAGGG	0.692																																																	1	Substitution - Missense(1)	cervix(1)											14.0	19.0	17.0					8																	145024409		1914	4114	6028	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.466C>T	8.37:g.145024409G>A	ENSP00000323856:p.Pro156Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P156S	ENST00000322810.4	37	c.466	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	g	11.75	1.732261	0.30684	.	.	ENSG00000178209	ENST00000322810	T	0.75050	-0.9	4.58	2.67	0.31697	.	1.091830	0.07213	N	0.859594	T	0.54679	0.1873	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	10	0.36615	T	0.2	.	5.5797	0.17243	0.1163:0.203:0.6807:0.0	.	156	Q15149	PLEC_HUMAN	S	156	ENSP00000323856:P156S	ENSP00000323856:P156S	P	-	1	0	PLEC	145096397	0.003000	0.15002	0.828000	0.32881	0.897000	0.52465	-0.014000	0.12656	0.300000	0.22699	0.563000	0.77884	CCT	PLEC	-	NULL		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024409	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.959	A
POLR1A	25885	genome.wustl.edu	37	2	86258468	86258468	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:86258468C>T	ENST00000263857.6	-	30	4941	c.4563G>A	c.(4561-4563)gaG>gaA	p.E1521E	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1521					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.E1521E(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACCACAGGCTCTCCTCGGTGT	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											77.0	83.0	81.0					2																	86258468		2105	4212	6317	SO:0001819	synonymous_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4563G>A	2.37:g.86258468C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.E1521	ENST00000263857.6	37	c.4563	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5		0.657	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86258468	-1	no_errors	ENST00000263857	ensembl	human	known	70_37	silent	SNP	0.207	T
PPP2R1A	5518	genome.wustl.edu	37	19	52714601	52714601	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:52714601C>T	ENST00000322088.6	+	4	417	c.359C>T	c.(358-360)tCg>tTg	p.S120L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S65L|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	120	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S120L(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACGAGCACTCGCCCTCTGAC	0.662			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	1	Substitution - Missense(1)	cervix(1)											60.0	63.0	62.0					19																	52714601		2203	4300	6503	SO:0001583	missense	5518				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.359C>T	19.37:g.52714601C>T	ENSP00000324804:p.Ser120Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S120L	ENST00000322088.6	37	c.359	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960089	0.92791	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35789	1.29;1.29	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.52532	D	0.000074	T	0.48822	0.1521	M	0.91090	3.175	0.80722	D	1	D;P;P	0.57571	0.98;0.93;0.93	B;B;B	0.41619	0.361;0.178;0.178	T	0.67063	-0.5765	10	0.72032	D	0.01	-11.216	15.0187	0.71609	0.0:1.0:0.0:0.0	.	65;120;120	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	110;120;65	ENSP00000324804:S120L;ENSP00000415067:S65L	ENSP00000324804:S120L	S	+	2	0	PPP2R1A	57406413	1.000000	0.71417	0.965000	0.40720	0.901000	0.52897	5.108000	0.64609	2.482000	0.83794	0.655000	0.94253	TCG	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.662	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	C	NM_014225		52714601	+1	no_errors	ENST00000322088	ensembl	human	known	70_37	missense	SNP	0.999	T
PRKDC	5591	genome.wustl.edu	37	8	48830905	48830905	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:48830905G>A	ENST00000314191.2	-	22	2514	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	PRKDC_ENST00000338368.3_Missense_Mutation_p.R820W|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	820					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.R820W(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGGGCAGCCCGAGAAAGAGCT	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												2	Substitution - Missense(2)	cervix(2)											62.0	57.0	59.0					8																	48830905		1830	4069	5899	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2458C>T	8.37:g.48830905G>A	ENSP00000313420:p.Arg820Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,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.R820W	ENST00000314191.2	37	c.2458		8	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972999	0.74246	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02974	4.16;4.09	5.83	4.0	0.46444	Armadillo-type fold (1);	0.502393	0.21394	N	0.075248	T	0.09024	0.0223	.	.	.	0.36223	D	0.852149	D;D;D	0.69078	0.997;0.994;0.994	P;P;P	0.56474	0.799;0.724;0.724	T	0.08597	-1.0714	9	0.66056	D	0.02	.	9.3821	0.38320	0.0723:0.0:0.7845:0.1432	.	820;820;820	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	W	820	ENSP00000313420:R820W;ENSP00000345182:R820W	ENSP00000313420:R820W	R	-	1	2	PRKDC	48993458	0.997000	0.39634	0.997000	0.53966	0.992000	0.81027	3.608000	0.54109	0.767000	0.33267	0.655000	0.94253	CGG	PRKDC	-	superfamily_ARM-type_fold		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48830905	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.955	A
PSMB8	5696	genome.wustl.edu	37	6	32810860	32810860	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:32810860C>T	ENST00000374882.3	-	2	204	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	PSMB8_ENST00000374881.2_Missense_Mutation_p.E48K|PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000395339.3_Missense_Mutation_p.E52K|TAPSAR1_ENST00000453426.1_lincRNA	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.E52K(1)|p.E48K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TGGAAGAATTCTGTGGGCTGA	0.488																																					NSCLC(48;53 1172 10859 13624 22883)												2	Substitution - Missense(2)	cervix(2)											64.0	65.0	64.0					6																	32810860		1511	2709	4220	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.154G>A	6.37:g.32810860C>T	ENSP00000364016:p.Glu52Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.E52K	ENST00000374882.3	37	c.154	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666124	0.29604	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.39787	1.06;1.82;1.81	5.84	5.84	0.93424	.	0.562968	0.19482	N	0.113190	T	0.16685	0.0401	L	0.43757	1.38	0.09310	N	1	B;B;B	0.28880	0.226;0.017;0.0	B;B;B	0.28709	0.093;0.012;0.004	T	0.06534	-1.0821	10	0.15499	T	0.54	-13.0499	10.9902	0.47545	0.0:0.9157:0.0:0.0843	.	52;48;52	B7Z6U7;P28062-2;P28062	.;.;PSB8_HUMAN	K	52;52;48	ENSP00000378748:E52K;ENSP00000364016:E52K;ENSP00000364015:E48K	ENSP00000364015:E48K	E	-	1	0	PSMB8	32918838	0.004000	0.15560	0.075000	0.20258	0.294000	0.27393	1.858000	0.39408	2.761000	0.94854	0.643000	0.83706	GAA	PSMB8	-	NULL		0.488	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	C	NM_148919		32810860	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	0.012	T
PSMC2	5701	genome.wustl.edu	37	7	103008390	103008390	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:103008390C>G	ENST00000435765.1	+	13	1602	c.1191C>G	c.(1189-1191)atC>atG	p.I397M	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.I397M|PSMC2_ENST00000544811.1_Missense_Mutation_p.I260M|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	397					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I397M(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TGTTTGCCATCAGAGCACGGC	0.423																																																	1	Substitution - Missense(1)	cervix(1)											94.0	91.0	92.0					7																	103008390		2203	4300	6503	SO:0001583	missense	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1191C>G	7.37:g.103008390C>G	ENSP00000391211:p.Ile397Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.I397M	ENST00000435765.1	37	c.1191	CCDS5731.1	7	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506210	0.64410	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94966	-3.57;-3.57;-3.57	5.46	3.55	0.40652	.	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	L	0.53671	1.685	0.80722	D	1	D	0.61697	0.99	D	0.85130	0.997	D	0.94295	0.7532	10	0.87932	D	0	-13.6512	6.4301	0.21792	0.1477:0.703:0.0:0.1493	.	397	P35998	PRS7_HUMAN	M	397;397;260	ENSP00000391211:I397M;ENSP00000292644:I397M;ENSP00000445546:I260M	ENSP00000292644:I397M	I	+	3	3	PSMC2	102795626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.137000	0.31479	1.321000	0.45227	0.644000	0.83932	ATC	PSMC2	-	tigrfam_26S_Psome_P45		0.423	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	HGNC	protein_coding	OTTHUMT00000347922.1	C	NM_002803		103008390	+1	no_errors	ENST00000292644	ensembl	human	known	70_37	missense	SNP	1.000	G
PSMD2	5708	genome.wustl.edu	37	3	184026613	184026613	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:184026613C>T	ENST00000310118.4	+	21	3220	c.2662C>T	c.(2662-2664)Ctt>Ttt	p.L888F	PSMD2_ENST00000435761.1_Missense_Mutation_p.L729F|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L758F	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	888					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L888F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)												1	Substitution - Missense(1)	cervix(1)											120.0	124.0	123.0					3																	184026613		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2662C>T	3.37:g.184026613C>T	ENSP00000310129:p.Leu888Phe	Somatic	1989	WXS	Illumina HiSeq	Phase_IV	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.L888F	ENST00000310118.4	37	c.2662	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316823	0.40996	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.41758	0.99;0.99;0.99	5.72	3.91	0.45181	.	0.136911	0.49916	N	0.000137	T	0.25644	0.0624	L	0.35542	1.07	0.51233	D	0.999918	B;B	0.32968	0.008;0.392	B;B	0.26416	0.009;0.069	T	0.13522	-1.0506	10	0.59425	D	0.04	-12.474	4.921	0.13869	0.1329:0.6208:0.1294:0.1169	.	729;888	E9PCS3;Q13200	.;PSMD2_HUMAN	F	888;560;880;729;758	ENSP00000310129:L888F;ENSP00000402618:L729F;ENSP00000416028:L758F	ENSP00000310129:L888F	L	+	1	0	PSMD2	185509307	0.854000	0.29725	1.000000	0.80357	0.997000	0.91878	0.412000	0.21131	2.691000	0.91804	0.655000	0.94253	CTT	PSMD2	-	pirsf_26S_Psome_Rpn1		0.527	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1	C	NM_002808		184026613	+1	no_errors	ENST00000310118	ensembl	human	known	70_37	missense	SNP	0.999	T
QPCT	25797	genome.wustl.edu	37	2	37596909	37596909	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:37596909G>A	ENST00000338415.3	+	5	963	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	QPCT_ENST00000537448.1_Missense_Mutation_p.E220K	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	269					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.E269K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGGTGGTTCGAAAGACTTCA	0.333																																																	1	Substitution - Missense(1)	cervix(1)											92.0	92.0	92.0					2																	37596909		2203	4300	6503	SO:0001583	missense	25797			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.805G>A	2.37:g.37596909G>A	ENSP00000344829:p.Glu269Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	pfam_Peptidase_M28	p.E269K	ENST00000338415.3	37	c.805	CCDS1790.1	2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.860598	0.00552	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.24	-9.57	0.00562	Peptidase M28 (1);	2.352020	0.01276	N	0.009583	T	0.08537	0.0212	N	0.05280	-0.08	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.20538	-1.0272	10	0.06099	T	0.92	-10.7417	5.7327	0.18049	0.5622:0.1606:0.2017:0.0756	.	220;269	Q16769-2;Q16769	.;QPCT_HUMAN	K	269;220;220;34	ENSP00000344829:E269K;ENSP00000385391:E220K;ENSP00000441606:E220K;ENSP00000389227:E34K	ENSP00000344829:E269K	E	+	1	0	QPCT	37450413	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.967000	0.03821	-2.527000	0.00494	-1.083000	0.02208	GAA	QPCT	-	pfam_Peptidase_M28		0.333	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCT	HGNC	protein_coding	OTTHUMT00000218572.2	G			37596909	+1	no_errors	ENST00000338415	ensembl	human	known	70_37	missense	SNP	0.000	A
RAB36	9609	genome.wustl.edu	37	22	23495275	23495275	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr22:23495275G>A	ENST00000263116.2	+	5	521	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	RAB36_ENST00000341989.4_Missense_Mutation_p.E139K	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	161					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.E161K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGTGGACTTTGAAATTGAGCG	0.507																																																	1	Substitution - Missense(1)	cervix(1)											233.0	220.0	225.0					22																	23495275		2203	4300	6503	SO:0001583	missense	9609			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.481G>A	22.37:g.23495275G>A	ENSP00000263116:p.Glu161Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E161K	ENST00000263116.2	37	c.481	CCDS13805.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.144158	0.94603	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.79033	-1.23;-1.23	5.53	5.53	0.82687	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76111	0.3942	N	0.10760	0.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.73385	-0.3999	10	0.17369	T	0.5	-30.7518	17.3342	0.87275	0.0:0.0:1.0:0.0	.	139;161	O95755-2;O95755	.;RAB36_HUMAN	K	161;139	ENSP00000263116:E161K;ENSP00000343494:E139K	ENSP00000263116:E161K	E	+	1	0	RAB36	21825275	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	8.944000	0.92980	2.778000	0.95560	0.655000	0.94253	GAA	RAB36	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.507	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1	G	NM_004914		23495275	+1	no_errors	ENST00000263116	ensembl	human	known	70_37	missense	SNP	1.000	A
RGL1	23179	genome.wustl.edu	37	1	183874076	183874076	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:183874076G>A	ENST00000360851.3	+	13	1621	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	RGL1_ENST00000539189.1_Silent_p.Q452Q|RGL1_ENST00000536277.1_Silent_p.Q479Q|RGL1_ENST00000304685.4_Silent_p.Q516Q			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	481	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.Q516Q(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGTGGTTCCAGAGGCAGCAGC	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											109.0	106.0	107.0					1																	183874076		2203	4300	6503	SO:0001819	synonymous_variant	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1443G>A	1.37:g.183874076G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q516	ENST00000360851.3	37	c.1548		1																																																																																			RGL1	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.483	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	G	NM_015149		183874076	+1	no_errors	ENST00000304685	ensembl	human	known	70_37	silent	SNP	1.000	A
RP1L1	94137	genome.wustl.edu	37	8	10466630	10466630	+	Missense_Mutation	SNP	C	C	T	rs369627530		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr8:10466630C>T	ENST00000382483.3	-	4	5201	c.4978G>A	c.(4978-4980)Gag>Aag	p.E1660K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1740					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1660K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGCAGGCCTCGCAGGGACAG	0.647																																																	1	Substitution - Missense(1)	cervix(1)						C	LYS/GLU	1,4061		0,1,2030	51.0	56.0	54.0		4978	2.9	0.0	8		54	0,8360		0,0,4180	no	missense	RP1L1	NM_178857.5	56	0,1,6210	TT,TC,CC		0.0,0.0246,0.0081	probably-damaging	1660/2401	10466630	1,12421	2031	4180	6211	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4978G>A	8.37:g.10466630C>T	ENSP00000371923:p.Glu1660Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1660K	ENST00000382483.3	37	c.4978	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823416	0.71143	2.46E-4	0.0	ENSG00000183638	ENST00000382483	T	0.07908	3.15	4.78	2.94	0.34122	.	0.000000	0.33753	U	0.004588	T	0.05502	0.0145	L	0.32530	0.975	0.21290	N	0.999737	D	0.54047	0.964	B	0.35607	0.206	T	0.33701	-0.9858	10	0.59425	D	0.04	-8.8266	8.512	0.33224	0.1514:0.7664:0.0:0.0823	.	1660	A6NKC6	.	K	1660	ENSP00000371923:E1660K	ENSP00000371923:E1660K	E	-	1	0	RP1L1	10504040	0.933000	0.31639	0.011000	0.14972	0.689000	0.40095	2.108000	0.41854	0.588000	0.29660	0.561000	0.74099	GAG	RP1L1	-	NULL		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	C			10466630	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.502	T
RRM2	6241	genome.wustl.edu	37	2	10263000	10263000	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:10263000C>T	ENST00000304567.5	+	1	144	c.75C>T	c.(73-75)ctC>ctT	p.L25L	RRM2_ENST00000360566.2_Silent_p.L85L|RP11-254F7.4_ENST00000607140.1_lincRNA	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	25					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.L85L(1)|p.L25L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TGAAGGGGCTCAGCTTGGTCG	0.692																																																	2	Substitution - coding silent(2)	cervix(2)											11.0	11.0	11.0					2																	10263000		2174	4250	6424	SO:0001819	synonymous_variant	6241				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.75C>T	2.37:g.10263000C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9B5|J3KP43|Q5WRU7	Silent	SNP	pfam_RNR_small,superfamily_Ferritin/RNR-like	p.L85	ENST00000304567.5	37	c.255	CCDS1669.1	2																																																																																			RRM2	-	NULL		0.692	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2	HGNC	protein_coding	OTTHUMT00000364902.2	C			10263000	+1	no_errors	ENST00000360566	ensembl	human	known	70_37	silent	SNP	0.004	T
RTN2	6253	genome.wustl.edu	37	19	45997610	45997610	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:45997610C>A	ENST00000245923.4	-	4	863	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.G210C|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	210					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.G210C(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTCCCAGAGCCCGGACTGAGC	0.607																																																	1	Substitution - Missense(1)	cervix(1)											54.0	49.0	51.0					19																	45997610		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.628G>T	19.37:g.45997610C>A	ENSP00000245923:p.Gly210Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.G210C	ENST00000245923.4	37	c.628	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587415	0.86851	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.51325	0.72;0.71	5.16	-5.63	0.02474	.	0.951433	0.08724	N	0.903034	T	0.34221	0.0890	N	0.24115	0.695	0.09310	N	0.999996	D;D	0.63880	0.993;0.983	P;P	0.53360	0.724;0.533	T	0.25710	-1.0124	10	0.52906	T	0.07	-0.4969	1.2584	0.01996	0.1271:0.247:0.2526:0.3733	.	210;210	O75298-2;O75298	.;RTN2_HUMAN	C	210	ENSP00000345127:G210C;ENSP00000245923:G210C	ENSP00000245923:G210C	G	-	1	0	RTN2	50689450	0.000000	0.05858	0.001000	0.08648	0.718000	0.41266	-1.487000	0.02310	-0.606000	0.05746	0.563000	0.77884	GGC	RTN2	-	NULL		0.607	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	C	NM_005619		45997610	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	missense	SNP	0.000	A
SBDS	51119	genome.wustl.edu	37	7	66453398	66453398	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr7:66453398T>C	ENST00000246868.2	-	5	896	c.713A>G	c.(712-714)aAt>aGt	p.N238S		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	238					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.N238S(1)		cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						ATCTTTCAGATTGAGTACTTC	0.393			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	1	Substitution - Missense(1)	cervix(1)											166.0	150.0	155.0					7																	66453398		2203	4300	6503	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.713A>G	7.37:g.66453398T>C	ENSP00000246868:p.Asn238Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.N238S	ENST00000246868.2	37	c.713	CCDS5537.1	7	.	.	.	.	.	.	.	.	.	.	T	2.385	-0.341180	0.05243	.	.	ENSG00000126524	ENST00000246868	D	0.98207	-4.79	5.05	-3.22	0.05125	.	0.158291	0.64402	N	0.000002	D	0.88716	0.6512	N	0.02213	-0.635	0.22693	N	0.998847	B	0.02656	0.0	B	0.01281	0.0	D	0.83788	0.0229	10	0.02654	T	1	-13.2544	9.3887	0.38359	0.0:0.6465:0.1369:0.2167	.	238	Q9Y3A5	SBDS_HUMAN	S	238	ENSP00000246868:N238S	ENSP00000246868:N238S	N	-	2	0	SBDS	66090833	0.042000	0.20092	0.075000	0.20258	0.935000	0.57460	0.357000	0.20199	-0.132000	0.11557	-0.410000	0.06199	AAT	SBDS	-	NULL		0.393	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	T	NM_016038		66453398	-1	no_errors	ENST00000246868	ensembl	human	known	70_37	missense	SNP	0.396	C
SCGB2B2	284402	genome.wustl.edu	37	19	35085427	35085427	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:35085427C>T	ENST00000601241.1	-	2	2142	c.42G>A	c.(40-42)ctG>ctA	p.L14L	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.L14L			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	14						extracellular region (GO:0005576)		p.L14L(1)									CGCTGCAGATCAGAGCCAGCA	0.597																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	60.0	62.0					19																	35085427		2203	4300	6503	SO:0001819	synonymous_variant	284402			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.42G>A	19.37:g.35085427C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Uteroglobin-like_superfam,pfam_Allergen_Fel_d_1_chain2,superfamily_Secretoglobin	p.L14	ENST00000601241.1	37	c.42	CCDS32989.1	19																																																																																			SCGB2B2	-	pfam_Uteroglobin-like_superfam		0.597	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2B2	HGNC	protein_coding	OTTHUMT00000461457.2	C	NM_001025591		35085427	-1	no_errors	ENST00000379204	ensembl	human	known	70_37	silent	SNP	0.093	T
SCN5A	6331	genome.wustl.edu	37	3	38648201	38648201	+	Missense_Mutation	SNP	G	G	A	rs199473097		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:38648201G>A	ENST00000333535.4	-	9	1248	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	SCN5A_ENST00000443581.1_Missense_Mutation_p.R367C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R367C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R367C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R367C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R367C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R367C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R367C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R367C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R367C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	367			R -> C (in BRGDA1; express no current; dbSNP:rs28937318). {ECO:0000269|PubMed:12106943, ECO:0000269|PubMed:19251209}.|R -> H (in BRGDA1; express no current; dbSNP:rs28937318). {ECO:0000269|PubMed:19251209}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R367C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCATCAGGCGGAAGAGTGCA	0.607																																																	2	Substitution - Missense(2)	cervix(2)	GRCh37	CM023672	SCN5A	M							71.0	87.0	82.0					3																	38648201		2050	4214	6264	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1099C>T	3.37:g.38648201G>A	ENSP00000328968:p.Arg367Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R367C	ENST00000333535.4	37	c.1099	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505768	0.85282	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.73	4.73	0.59995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.999;0.931	D	0.99612	1.0981	10	0.87932	D	0	.	17.9036	0.88912	0.0:0.0:1.0:0.0	.	367;367;367;367;367;367	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	367	ENSP00000398962:R367C;ENSP00000398266:R367C;ENSP00000410257:R367C;ENSP00000388797:R367C;ENSP00000397915:R367C;ENSP00000416634:R367C;ENSP00000328968:R367C;ENSP00000399524:R367C;ENSP00000403355:R367C;ENSP00000413996:R367C	ENSP00000328968:R367C	R	-	1	0	SCN5A	38623205	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.917000	0.63369	2.462000	0.83206	0.557000	0.71058	CGC	SCN5A	-	pfam_Ion_trans_dom		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	G	NM_198056		38648201	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	missense	SNP	1.000	A
SEC24A	10802	genome.wustl.edu	37	5	134002535	134002535	+	Silent	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:134002535G>A	ENST00000398844.2	+	3	876	c.588G>A	c.(586-588)gtG>gtA	p.V196V	SEC24A_ENST00000322887.4_Silent_p.V196V	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	196	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.V196V(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCCTTAGTGAATCCACCTC	0.527																																																	1	Substitution - coding silent(1)	cervix(1)											81.0	83.0	82.0					5																	134002535		1859	4100	5959	SO:0001819	synonymous_variant	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.588G>A	5.37:g.134002535G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.V196	ENST00000398844.2	37	c.588	CCDS43363.1	5																																																																																			SEC24A	-	NULL		0.527	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	G			134002535	+1	no_errors	ENST00000398844	ensembl	human	known	70_37	silent	SNP	0.580	A
SEPHS1	22929	genome.wustl.edu	37	10	13386938	13386938	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr10:13386938C>T	ENST00000327347.5	-	2	388	c.13G>A	c.(13-15)Gag>Aag	p.E5K	SEPHS1_ENST00000545675.1_Missense_Mutation_p.E5K|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.E5K	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	5					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.E5K(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TTAAAGGACTCCCGCGTAGAC	0.562																																																	2	Substitution - Missense(2)	cervix(2)											93.0	97.0	96.0					10																	13386938		2203	4300	6503	SO:0001583	missense	22929			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.13G>A	10.37:g.13386938C>T	ENSP00000367893:p.Glu5Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.E5K	ENST00000327347.5	37	c.13	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626554	0.28978	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000413411	T;T;T	0.41758	1.02;1.04;0.99	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	N	0.16790	0.44	0.58432	D	0.999999	B;B;B;B	0.17268	0.021;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.001;0.001	T	0.07462	-1.0771	10	0.09338	T	0.73	-13.093	14.7956	0.69876	0.0:1.0:0.0:0.0	.	5;5;5;5	Q5T5U9;P49903;D6PSQ9;D3DRS9	.;SPS1_HUMAN;.;.	K	5	ENSP00000367893:E5K;ENSP00000367877:E5K;ENSP00000441119:E5K	ENSP00000367887:E5K	E	-	1	0	SEPHS1	13426944	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.828000	0.62730	2.148000	0.66965	0.313000	0.20887	GAG	SEPHS1	-	NULL		0.562	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	C	NM_012247		13386938	-1	no_errors	ENST00000327347	ensembl	human	known	70_37	missense	SNP	1.000	T
SERPINB11	89778	genome.wustl.edu	37	18	61390278	61390278	+	RNA	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr18:61390278C>G	ENST00000382749.5	+	0	1069				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S73C(1)|p.S275C(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ACAAGCTCTTCTAACATGATG	0.423																																					Ovarian(27;496 784 5942 8975 23930)												2	Substitution - Missense(2)	cervix(2)											39.0	35.0	37.0					18																	61390278		1876	4121	5997			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390278C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S100C	ENST00000382749.5	37	c.299		18	.	.	.	.	.	.	.	.	.	.	C	8.189	0.795484	0.16327	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;D;D	0.84730	-1.8;-1.89;-1.8	5.05	0.928	0.19443	Serpin domain (3);	0.932601	0.08992	N	0.864250	D	0.87124	0.6099	M	0.72894	2.215	0.09310	N	1	P;D;D;D;D	0.58620	0.954;0.975;0.975;0.979;0.983	P;P;P;P;P	0.54499	0.54;0.639;0.54;0.639;0.754	T	0.75048	-0.3455	10	0.72032	D	0.01	.	4.9521	0.14019	0.4359:0.3805:0.11:0.0736	.	100;73;188;275;275	F5GWT8;F5GY69;Q96P15-2;F5GYW9;Q96P15	.;.;.;.;SPB11_HUMAN	C	275;73;100	ENSP00000441497:S275C;ENSP00000440795:S73C;ENSP00000441708:S100C	ENSP00000421854:S275C	S	+	2	0	SERPINB11	59541258	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.307000	0.19296	0.609000	0.30018	-0.169000	0.13324	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.423	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61390278	+1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	0.000	G
SGOL2	151246	genome.wustl.edu	37	2	201440108	201440108	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr2:201440108G>C	ENST00000357799.4	+	8	3804	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1236					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E1236Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATAAGTCAGAAGATCTATC	0.333																																																	1	Substitution - Missense(1)	cervix(1)											80.0	76.0	77.0					2																	201440108		1816	4069	5885	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3706G>C	2.37:g.201440108G>C	ENSP00000350447:p.Glu1236Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.E1236Q	ENST00000357799.4	37	c.3706	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757006	0.69648	.	.	ENSG00000163535	ENST00000357799	T	0.16597	2.33	5.53	4.65	0.58169	.	0.000000	0.50627	D	0.000112	T	0.34513	0.0900	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63283	0.913;0.913	T	0.09400	-1.0676	10	0.87932	D	0	-14.2235	11.3453	0.49556	0.0835:0.0:0.9165:0.0	.	1236;1236	Q562F6-2;Q562F6	.;SGOL2_HUMAN	Q	1236	ENSP00000350447:E1236Q	ENSP00000350447:E1236Q	E	+	1	0	SGOL2	201148353	0.919000	0.31177	0.554000	0.28268	0.290000	0.27261	1.808000	0.38912	1.575000	0.49775	0.573000	0.79308	GAA	SGOL2	-	NULL		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201440108	+1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.540	C
SLC35G2	80723	genome.wustl.edu	37	3	136574394	136574394	+	Silent	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:136574394C>T	ENST00000446465.2	+	2	1720	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.L364L	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.L364L(2)									TGCAGCTTCTCGTGCTGCACA	0.393																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											215.0	199.0	204.0					3																	136574394		2203	4300	6503	SO:0001819	synonymous_variant	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.1092C>T	3.37:g.136574394C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DMT	p.L364	ENST00000446465.2	37	c.1092	CCDS3091.1	3																																																																																			SLC35G2	-	pfam_DMT		0.393	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G2	HGNC	protein_coding	OTTHUMT00000357317.1	C	NM_025246		136574394	+1	no_errors	ENST00000393079	ensembl	human	known	70_37	silent	SNP	0.999	T
SLC36A2	153201	genome.wustl.edu	37	5	150696422	150696422	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr5:150696422C>T	ENST00000335244.4	-	10	1537	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	SLC36A2_ENST00000450886.1_Missense_Mutation_p.E194K	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	470					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.E470K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGAGAGTCTTCTGACTTGAGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											70.0	74.0	73.0					5																	150696422		2203	4300	6503	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1408G>A	5.37:g.150696422C>T	ENSP00000334223:p.Glu470Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.E470K	ENST00000335244.4	37	c.1408	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	C	4.934	0.173545	0.09391	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.09255	3.8;3.0	4.92	-1.58	0.08479	.	1.221440	0.05231	N	0.510323	T	0.06735	0.0172	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39742	-0.9599	10	0.07644	T	0.81	15.9304	5.494	0.16791	0.0:0.4307:0.2507:0.3186	.	470	Q495M3	S36A2_HUMAN	K	470;194	ENSP00000334223:E470K;ENSP00000399479:E194K	ENSP00000334223:E470K	E	-	1	0	SLC36A2	150676615	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.068000	0.14531	-0.125000	0.11703	0.650000	0.86243	GAA	SLC36A2	-	NULL		0.552	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	C			150696422	-1	no_errors	ENST00000335244	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC39A5	283375	genome.wustl.edu	37	12	56630255	56630255	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56630255C>A	ENST00000266980.4	+	7	1314	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	SLC39A5_ENST00000454355.2_Missense_Mutation_p.Q341K|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	341					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.Q340K(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GATGGCCCTTCAGCCCCTACA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											113.0	116.0	115.0					12																	56630255		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1021C>A	12.37:g.56630255C>A	ENSP00000266980:p.Gln341Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.Q341K	ENST00000266980.4	37	c.1021	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	7.502	0.652805	0.14580	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.46063	0.88;0.88	4.86	3.97	0.46021	.	0.436673	0.19794	N	0.105905	T	0.21921	0.0528	N	0.16903	0.455	0.27080	N	0.96312	B	0.23650	0.089	B	0.25405	0.06	T	0.24048	-1.0171	10	0.02654	T	1	0.7258	9.0193	0.36191	0.0:0.9004:0.0:0.0996	.	341	Q6ZMH5	S39A5_HUMAN	K	341	ENSP00000405360:Q341K;ENSP00000266980:Q341K	ENSP00000266980:Q341K	Q	+	1	0	SLC39A5	54916522	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.368000	0.34216	1.414000	0.47017	0.655000	0.94253	CAG	SLC39A5	-	pfam_ZIP		0.527	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56630255	+1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC39A5	283375	genome.wustl.edu	37	12	56630958	56630958	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56630958C>T	ENST00000266980.4	+	10	1606	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.S438L|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	438					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.S437L(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGCTCCAGTCAGGGCTGTCC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											50.0	51.0	50.0					12																	56630958		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1313C>T	12.37:g.56630958C>T	ENSP00000266980:p.Ser438Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.S438L	ENST00000266980.4	37	c.1313	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284338	0.59867	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.50001	0.76;0.76	4.79	3.87	0.44632	.	0.488016	0.18933	N	0.127151	T	0.50274	0.1606	M	0.81179	2.53	0.39772	D	0.972186	B	0.20164	0.042	B	0.25506	0.061	T	0.56414	-0.7983	10	0.87932	D	0	-7.3761	9.1483	0.36946	0.1711:0.6747:0.1542:0.0	.	438	Q6ZMH5	S39A5_HUMAN	L	438	ENSP00000405360:S438L;ENSP00000266980:S438L	ENSP00000266980:S438L	S	+	2	0	SLC39A5	54917225	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.828000	0.55753	1.331000	0.45412	0.561000	0.74099	TCA	SLC39A5	-	pfam_ZIP		0.647	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56630958	+1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC39A5	283375	genome.wustl.edu	37	12	56631000	56631000	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr12:56631000C>T	ENST00000266980.4	+	10	1648	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.S452F|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	452					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.S451F(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCCTCGTGTCTGGAGCCCTG	0.642																																																	1	Substitution - Missense(1)	cervix(1)											45.0	50.0	49.0					12																	56631000		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1355C>T	12.37:g.56631000C>T	ENSP00000266980:p.Ser452Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.S452F	ENST00000266980.4	37	c.1355	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524437	0.85600	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.44881	0.91;0.91	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000026	T	0.69691	0.3139	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75806	-0.3188	10	0.87932	D	0	-9.7804	17.1368	0.86742	0.0:1.0:0.0:0.0	.	452	Q6ZMH5	S39A5_HUMAN	F	452	ENSP00000405360:S452F;ENSP00000266980:S452F	ENSP00000266980:S452F	S	+	2	0	SLC39A5	54917267	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.191000	0.65110	2.669000	0.90835	0.561000	0.74099	TCT	SLC39A5	-	pfam_ZIP		0.642	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	C	NM_173596		56631000	+1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC6A11	6538	genome.wustl.edu	37	3	10916770	10916770	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:10916770C>G	ENST00000254488.2	+	6	947	c.881C>G	c.(880-882)tCc>tGc	p.S294C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	294					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S294C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCCCGGCTCTCCGACCCCCAG	0.592																																																	1	Substitution - Missense(1)	cervix(1)											83.0	76.0	79.0					3																	10916770		2203	4300	6503	SO:0001583	missense	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.881C>G	3.37:g.10916770C>G	ENSP00000254488:p.Ser294Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.S294C	ENST00000254488.2	37	c.881	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663617	0.67700	.	.	ENSG00000132164	ENST00000254488	T	0.74842	-0.88	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	L	0.46819	1.47	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.78453	-0.2198	10	0.35671	T	0.21	.	13.4284	0.61039	0.1571:0.8429:0.0:0.0	.	294	P48066	S6A11_HUMAN	C	294	ENSP00000254488:S294C	ENSP00000254488:S294C	S	+	2	0	SLC6A11	10891770	1.000000	0.71417	0.963000	0.40424	0.719000	0.41307	5.544000	0.67231	2.465000	0.83290	0.591000	0.81541	TCC	SLC6A11	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.592	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	C	NM_014229		10916770	+1	no_errors	ENST00000254488	ensembl	human	known	70_37	missense	SNP	0.998	G
SMYD4	114826	genome.wustl.edu	37	17	1684631	1684631	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr17:1684631C>A	ENST00000305513.7	-	11	2531	c.2364G>T	c.(2362-2364)atG>atT	p.M788I		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	788							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.M788I(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AACAGGATTTCATCTTCTGGA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											108.0	98.0	102.0					17																	1684631		2203	4300	6503	SO:0001583	missense	114826			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.2364G>T	17.37:g.1684631C>A	ENSP00000304360:p.Met788Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.M788I	ENST00000305513.7	37	c.2364	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802327	0.90538	.	.	ENSG00000186532	ENST00000305513	T	0.12361	2.69	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.78801	2.425	0.58432	D	0.999998	D	0.64830	0.994	P	0.58820	0.846	T	0.14035	-1.0487	10	0.87932	D	0	-23.7907	19.8531	0.96747	0.0:1.0:0.0:0.0	.	788	Q8IYR2	SMYD4_HUMAN	I	788	ENSP00000304360:M788I	ENSP00000304360:M788I	M	-	3	0	SMYD4	1631381	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.065000	0.71176	2.689000	0.91719	0.561000	0.74099	ATG	SMYD4	-	NULL		0.527	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	C	XM_056082		1684631	-1	no_errors	ENST00000305513	ensembl	human	known	70_37	missense	SNP	1.000	A
SOCS4	122809	genome.wustl.edu	37	14	55509864	55509864	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr14:55509864G>C	ENST00000395472.2	+	2	437	c.105G>C	c.(103-105)aaG>aaC	p.K35N	SOCS4_ENST00000339298.2_Missense_Mutation_p.K35N|SOCS4_ENST00000555846.1_Missense_Mutation_p.K35N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	35					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.K35N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GGAGTGGAAAGAAGTTATCTT	0.383																																																	1	Substitution - Missense(1)	cervix(1)											147.0	146.0	146.0					14																	55509864		2203	4300	6503	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.105G>C	14.37:g.55509864G>C	ENSP00000378855:p.Lys35Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.K35N	ENST00000395472.2	37	c.105	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064349	0.36373	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.49139	0.79;0.79;0.79	5.75	2.38	0.29361	.	0.000000	0.64402	D	0.000002	T	0.51719	0.1691	N	0.24115	0.695	0.44302	D	0.997177	D	0.89917	1.0	D	0.85130	0.997	T	0.54536	-0.8279	10	0.87932	D	0	-16.4542	11.4152	0.49947	0.2405:0.0:0.7595:0.0	.	35	Q8WXH5	SOCS4_HUMAN	N	35	ENSP00000378855:K35N;ENSP00000452522:K35N;ENSP00000341327:K35N	ENSP00000341327:K35N	K	+	3	2	SOCS4	54579617	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.454000	0.35178	0.728000	0.32382	-0.140000	0.14226	AAG	SOCS4	-	NULL		0.383	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55509864	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	1.000	C
SSH3	54961	genome.wustl.edu	37	11	67075201	67075201	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr11:67075201C>T	ENST00000308127.4	+	7	962	c.784C>T	c.(784-786)Cct>Tct	p.P262S	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.P262S|SSH3_ENST00000308298.7_Missense_Mutation_p.P262S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	262					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P262S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CAGCGCCGAGCCTGGCGGGTC	0.647																																																	1	Substitution - Missense(1)	cervix(1)											26.0	31.0	29.0					11																	67075201		2200	4295	6495	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.784C>T	11.37:g.67075201C>T	ENSP00000312081:p.Pro262Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P262S	ENST00000308127.4	37	c.784	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.615358	0.00835	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757;ENST00000527821	T;T;T;T	0.29655	3.87;1.56;3.93;2.36	4.4	1.41	0.22369	.	0.311056	0.26503	N	0.024013	T	0.10508	0.0257	N	0.05306	-0.075	0.09310	N	1	B;B	0.17667	0.023;0.0	B;B	0.12156	0.007;0.002	T	0.36432	-0.9748	10	0.02654	T	1	-3.2024	7.0787	0.25219	0.0:0.6083:0.0:0.3917	.	116;262	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	S	262;262;262;14	ENSP00000312081:P262S;ENSP00000310055:P262S;ENSP00000365948:P262S;ENSP00000433902:P14S	ENSP00000312081:P262S	P	+	1	0	SSH3	66831777	0.000000	0.05858	0.902000	0.35471	0.014000	0.08584	-0.189000	0.09629	0.436000	0.26393	0.462000	0.41574	CCT	SSH3	-	NULL		0.647	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	C	NM_018276		67075201	+1	no_errors	ENST00000308127	ensembl	human	known	70_37	missense	SNP	0.013	T
TEK	7010	genome.wustl.edu	37	9	27169490	27169490	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:27169490C>T	ENST00000380036.4	+	4	933	c.491C>T	c.(490-492)tCa>tTa	p.S164L	TEK_ENST00000406359.4_Missense_Mutation_p.S164L|TEK_ENST00000519097.1_Missense_Mutation_p.S60L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	164					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S164L(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTCATCCATTCAGTGCCCCGG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											158.0	157.0	158.0					9																	27169490		2203	4300	6503	SO:0001583	missense	7010			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.491C>T	9.37:g.27169490C>T	ENSP00000369375:p.Ser164Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S164L	ENST00000380036.4	37	c.491	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602247	0.46423	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359	T;T;T	0.74315	-0.8;-0.79;-0.83	5.48	4.57	0.56435	Immunoglobulin-like fold (1);	0.371275	0.19610	N	0.110166	T	0.62974	0.2472	N	0.14661	0.345	0.47214	D	0.999351	B;P;B;B;P	0.52061	0.005;0.896;0.091;0.005;0.95	B;P;B;B;B	0.46076	0.003;0.503;0.019;0.004;0.318	T	0.66044	-0.6021	10	0.46703	T	0.11	.	13.7067	0.62644	0.0:0.9247:0.0:0.0753	.	60;197;164;164;164	E7EWI2;Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;.;TIE2_HUMAN	L	60;164;164;164	ENSP00000430686:S60L;ENSP00000369375:S164L;ENSP00000383977:S164L	ENSP00000343716:S164L	S	+	2	0	TEK	27159490	0.976000	0.34144	0.990000	0.47175	0.478000	0.33099	3.770000	0.55310	2.739000	0.93911	0.561000	0.74099	TCA	TEK	-	NULL		0.483	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	C			27169490	+1	no_errors	ENST00000380036	ensembl	human	known	70_37	missense	SNP	0.994	T
STRBP	55342	genome.wustl.edu	37	9	125923338	125923338	+	Missense_Mutation	SNP	G	G	A	rs374006039		TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:125923338G>A	ENST00000348403.5	-	7	974	c.545C>T	c.(544-546)tCg>tTg	p.S182L	STRBP_ENST00000447404.2_Missense_Mutation_p.S182L|STRBP_ENST00000360998.3_Missense_Mutation_p.S168L	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	182	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.S182L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATCTTTCATCGAAACATTTTC	0.363																																																	1	Substitution - Missense(1)	cervix(1)						G	LEU/SER,LEU/SER	1,4405		0,1,2202	33.0	33.0	33.0		503,545	2.0	0.9	9		33	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	STRBP	NM_001171137.1,NM_018387.4	145,145	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	168/659,182/673	125923338	3,13003	2203	4300	6503	SO:0001583	missense	55342			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.545C>T	9.37:g.125923338G>A	ENSP00000321347:p.Ser182Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.S182L	ENST00000348403.5	37	c.545	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473080	0.43942	2.27E-4	2.33E-4	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.46819	0.86;0.86;0.86	5.87	2.03	0.26663	DZF (2);	0.806227	0.11431	N	0.564822	T	0.44030	0.1274	L	0.54323	1.7	0.22457	N	0.999088	B	0.24132	0.098	B	0.27715	0.082	T	0.38265	-0.9669	10	0.49607	T	0.09	8.8905	10.0257	0.42070	0.2663:0.0:0.7337:0.0	.	182	Q96SI9	STRBP_HUMAN	L	182;182;168	ENSP00000415968:S182L;ENSP00000321347:S182L;ENSP00000354271:S168L	ENSP00000321347:S182L	S	-	2	0	STRBP	124963159	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	5.186000	0.65082	0.110000	0.17919	0.655000	0.94253	TCG	STRBP	-	pfam_DZF,smart_DZF		0.363	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	G			125923338	-1	no_errors	ENST00000348403	ensembl	human	known	70_37	missense	SNP	0.998	A
TMPRSS11A	339967	genome.wustl.edu	37	4	68780365	68780365	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr4:68780365C>G	ENST00000334830.7	-	9	1791	c.1045G>C	c.(1045-1047)Gat>Cat	p.D349H	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.D345H|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.D346H|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	349	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.D349H(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTTTTATATCATTGCCATAC	0.383																																					NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	cervix(1)											139.0	131.0	134.0					4																	68780365		2203	4300	6503	SO:0001583	missense	339967			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1045G>C	4.37:g.68780365C>G	ENSP00000334611:p.Asp349His	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D349H	ENST00000334830.7	37	c.1045	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	9.441	1.087960	0.20390	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.93	2.22	0.28083	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.466191	0.19863	N	0.104382	D	0.84933	0.5582	N	0.14661	0.345	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	T	0.73519	-0.3957	10	0.41790	T	0.15	.	2.9611	0.05893	0.1366:0.4541:0.2644:0.1449	.	346;349	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	H	345;349;346;313	ENSP00000426911:D345H;ENSP00000334611:D349H;ENSP00000379491:D346H;ENSP00000427621:D313H	ENSP00000334611:D349H	D	-	1	0	TMPRSS11A	68462960	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	0.178000	0.16820	0.097000	0.17492	0.591000	0.81541	GAT	TMPRSS11A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6		0.383	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	C	NM_182606		68780365	-1	no_errors	ENST00000334830	ensembl	human	known	70_37	missense	SNP	0.000	G
TNNT2	7139	genome.wustl.edu	37	1	201333443	201333443	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:201333443G>A	ENST00000509001.1	-	10	728	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	TNNT2_ENST00000367318.5_Missense_Mutation_p.R148W|TNNT2_ENST00000458432.2_Missense_Mutation_p.R160W|TNNT2_ENST00000367315.2_Missense_Mutation_p.R148W|TNNT2_ENST00000421663.2_Missense_Mutation_p.R150W|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367317.4_Missense_Mutation_p.R148W|TNNT2_ENST00000236918.7_Missense_Mutation_p.R153W|TNNT2_ENST00000367320.2_Missense_Mutation_p.R118W|TNNT2_ENST00000367322.1_Missense_Mutation_p.R148W|TNNT2_ENST00000360372.4_Missense_Mutation_p.R143W	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	158					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.R148W(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CGGTTCTGCCGCTCCTTCTCC	0.662																																																	1	Substitution - Missense(1)	cervix(1)											47.0	41.0	43.0					1																	201333443		2203	4300	6503	SO:0001583	missense	7139			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.442C>T	1.37:g.201333443G>A	ENSP00000422031:p.Arg148Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	pfam_Troponin	p.R160W	ENST00000509001.1	37	c.478	CCDS30969.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983298	0.74474	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702	D;D;D;D;D;D;D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	4.28	3.32	0.38043	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.999;0.999	D	0.96990	0.9721	10	0.87932	D	0	-14.9903	10.0374	0.42137	0.0:0.0:0.6204:0.3796	.	143;160;157;158;148;158	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	W	148;148;160;150;153;148;148;143;144;89;118;148;143;158	ENSP00000356291:R148W;ENSP00000356287:R148W;ENSP00000387874:R160W;ENSP00000404134:R150W;ENSP00000236918:R153W;ENSP00000356286:R148W;ENSP00000356284:R148W;ENSP00000353535:R143W;ENSP00000356289:R118W;ENSP00000422031:R148W;ENSP00000414036:R143W;ENSP00000402238:R158W	ENSP00000236918:R153W	R	-	1	2	TNNT2	199600066	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.380000	0.59581	0.719000	0.32188	0.491000	0.48974	CGG	TNNT2	-	pfam_Troponin		0.662	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	G	NM_000364		201333443	-1	no_errors	ENST00000458432	ensembl	human	known	70_37	missense	SNP	1.000	A
TPM2	7169	genome.wustl.edu	37	9	35685308	35685308	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:35685308C>T	ENST00000360958.2	-	5	625	c.521G>A	c.(520-522)gGa>gAa	p.G174E	TPM2_ENST00000378300.5_Missense_Mutation_p.G174E|TPM2_ENST00000378292.3_Missense_Mutation_p.G174E|TPM2_ENST00000329305.2_Missense_Mutation_p.G174E	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	174					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.G174E(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCAGCTCTCCTTCCAGGAT	0.617																																																	2	Substitution - Missense(2)	cervix(2)											50.0	50.0	50.0					9																	35685308		2203	4300	6503	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.521G>A	9.37:g.35685308C>T	ENSP00000354219:p.Gly174Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.G174E	ENST00000360958.2	37	c.521	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035431	0.75617	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;D;D;D	0.97186	1.62;-4.28;-4.28;-4.28	5.24	5.24	0.73138	.	.	.	.	.	D	0.98454	0.9485	M	0.81341	2.54	0.80722	D	1	D;D;D;P;P	0.89917	1.0;0.972;1.0;0.886;0.769	D;D;D;P;P	0.91635	0.999;0.955;0.999;0.626;0.766	D	0.99153	1.0859	9	0.66056	D	0.02	.	19.0185	0.92903	0.0:1.0:0.0:0.0	.	174;174;174;174;174	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	E	174	ENSP00000367550:G174E;ENSP00000367542:G174E;ENSP00000367541:G174E;ENSP00000354219:G174E	ENSP00000367541:G174E	G	-	2	0	TPM2	35675308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.647000	0.83462	2.723000	0.93209	0.655000	0.94253	GGA	TPM2	-	pfam_Tropomyosin		0.617	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	C	NM_003289		35685308	-1	no_errors	ENST00000378300	ensembl	human	known	70_37	missense	SNP	1.000	T
TPR	7175	genome.wustl.edu	37	1	186292910	186292910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:186292910G>A	ENST00000367478.4	-	43	6501	c.6205C>T	c.(6205-6207)Cga>Tga	p.R2069*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2069					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R2056*(1)|p.R2069*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGGTGCTCGAGGGGCCTGT	0.512			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	2	Substitution - Nonsense(2)	cervix(2)											134.0	143.0	140.0					1																	186292910		1952	4165	6117	SO:0001587	stop_gained	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6205C>T	1.37:g.186292910G>A	ENSP00000356448:p.Arg2069*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.R2069*	ENST00000367478.4	37	c.6205	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	48	14.631327	0.99803	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.36	3.45	0.39498	.	0.065801	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4444	0.44486	0.0696:0.0:0.7961:0.1343	.	.	.	.	X	2069	.	ENSP00000356448:R2069X	R	-	1	2	TPR	184559533	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.689000	0.54706	0.721000	0.32231	0.650000	0.86243	CGA	TPR	-	NULL		0.512	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	G	NM_003292		186292910	-1	no_errors	ENST00000367478	ensembl	human	known	70_37	nonsense	SNP	0.989	A
UBASH3A	53347	genome.wustl.edu	37	21	43867194	43867194	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr21:43867194G>A	ENST00000319294.6	+	15	1907	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	UBASH3A_ENST00000291535.6_Missense_Mutation_p.E588K|UBASH3A_ENST00000398367.1_Silent_p.V515V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	626	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E626K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGCTTCTGTGAAGAAAATAA	0.463																																																	1	Substitution - Missense(1)	cervix(1)											120.0	126.0	124.0					21																	43867194		2203	4300	6503	SO:0001583	missense	53347			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1876G>A	21.37:g.43867194G>A	ENSP00000317327:p.Glu626Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.E626K	ENST00000319294.6	37	c.1876	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241963	0.79912	.	.	ENSG00000160185	ENST00000291535;ENST00000319294	T;T	0.35605	1.3;1.3	4.46	3.55	0.40652	.	0.000000	0.64402	D	0.000017	T	0.50103	0.1596	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.49204	-0.8964	10	0.59425	D	0.04	-24.5556	10.1729	0.42922	0.0983:0.0:0.9017:0.0	.	588;626	P57075-2;P57075	.;UBS3A_HUMAN	K	588;626	ENSP00000291535:E588K;ENSP00000317327:E626K	ENSP00000291535:E588K	E	+	1	0	UBASH3A	42740263	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	3.334000	0.52097	2.296000	0.77279	0.563000	0.77884	GAA	UBASH3A	-	NULL		0.463	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	HGNC	protein_coding	OTTHUMT00000195382.1	G	NM_001001895		43867194	+1	no_errors	ENST00000319294	ensembl	human	known	70_37	missense	SNP	0.987	A
UBE2Q1	55585	genome.wustl.edu	37	1	154524838	154524840	+	Intron	DEL	CTC	CTC	-			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr1:154524838_154524840delCTC	ENST00000292211.4	-	7	955				UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1						embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCACTCACACTCCTCCTCAACT	0.542																																																	0																																										SO:0001627	intron_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.875+39GAG>-	1.37:g.154524844_154524846delCTC		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	RNA	DEL	-	NULL	ENST00000292211.4	37	NULL	CCDS1069.1	1																																																																																			UBE2Q1	-	-		0.542	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	CTC	NM_017582		154524840	-1	no_errors	ENST00000474181	ensembl	human	known	70_37	rna	DEL	0.008:0.000:0.000	-
UFL1	23376	genome.wustl.edu	37	6	96988513	96988513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr6:96988513C>T	ENST00000369278.4	+	11	1327	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	421					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.R421*(1)									AAAAGATGAGCGAAGAAGGAA	0.303																																																	1	Substitution - Nonsense(1)	cervix(1)											65.0	66.0	66.0					6																	96988513		2202	4294	6496	SO:0001587	stop_gained	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1261C>T	6.37:g.96988513C>T	ENSP00000358283:p.Arg421*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Nonsense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.R421*	ENST00000369278.4	37	c.1261	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.696643	0.97772	.	.	ENSG00000014123	ENST00000369278	.	.	.	6.16	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.6874	8.2875	0.31937	0.3798:0.5485:0.0:0.0717	.	.	.	.	X	421	.	ENSP00000358283:R421X	R	+	1	2	KIAA0776	97095234	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.001000	0.49488	0.903000	0.36546	0.650000	0.86243	CGA	UFL1	-	NULL		0.303	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	C	NM_015323		96988513	+1	no_errors	ENST00000369278	ensembl	human	known	70_37	nonsense	SNP	0.997	T
UHRF2	115426	genome.wustl.edu	37	9	6434113	6434113	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr9:6434113C>T	ENST00000276893.5	+	3	752	c.584C>T	c.(583-585)aCg>aTg	p.T195M	RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	195	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T195M(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GTACCCTCTACGTCTAATTCA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											106.0	93.0	97.0					9																	6434113		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.584C>T	9.37:g.6434113C>T	ENSP00000276893:p.Thr195Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.T195M	ENST00000276893.5	37	c.584	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243398	0.79912	.	.	ENSG00000147854	ENST00000276893	T	0.23348	1.91	5.54	5.54	0.83059	Domain of unknown function DUF3590 (1);	0.052838	0.85682	D	0.000000	T	0.47451	0.1446	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.32214	-0.9915	10	0.52906	T	0.07	-0.1811	19.5469	0.95302	0.0:1.0:0.0:0.0	.	195	Q96PU4	UHRF2_HUMAN	M	195	ENSP00000276893:T195M	ENSP00000276893:T195M	T	+	2	0	UHRF2	6424113	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.270000	0.72563	2.621000	0.88768	0.586000	0.80456	ACG	UHRF2	-	pfam_DUF3590		0.353	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	C	NM_152306		6434113	+1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB38	253461	genome.wustl.edu	37	3	141162660	141162660	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141162660G>C	ENST00000514251.1	+	4	1709	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R478T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R477T					zinc finger and BTB domain containing 38									p.R477T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGCCTCCGAAGACATGCAAAT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											84.0	82.0	82.0					3																	141162660		1933	4133	6066	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1430G>C	3.37:g.141162660G>C	ENSP00000426387:p.Arg477Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		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.R478T	ENST00000514251.1	37	c.1433	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996956	0.74818	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	N	0.25647	0.755	0.40614	D	0.981701	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59799	-0.7386	9	.	.	.	-28.8077	19.5375	0.95260	0.0:0.0:1.0:0.0	.	478;477	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	477;477;477;478	ENSP00000424254:R477T;ENSP00000426387:R477T;ENSP00000406955:R477T;ENSP00000372635:R478T	.	R	+	2	0	ZBTB38	142645350	1.000000	0.71417	0.851000	0.33527	0.997000	0.91878	9.476000	0.97823	2.626000	0.88956	0.650000	0.86243	AGA	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141162660	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.999	C
ZBTB38	253461	genome.wustl.edu	37	3	141162767	141162767	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141162767G>A	ENST00000514251.1	+	4	1816	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E514K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E513K					zinc finger and BTB domain containing 38									p.E513K(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCATACGGGAGAAAGACGATA	0.388																																																	1	Substitution - Missense(1)	cervix(1)											95.0	87.0	89.0					3																	141162767		1903	4128	6031	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1537G>A	3.37:g.141162767G>A	ENSP00000426387:p.Glu513Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		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.E514K	ENST00000514251.1	37	c.1540	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807262	0.90623	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.39	5.39	0.77823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.058024	0.64402	D	0.000003	T	0.48114	0.1482	L	0.55990	1.75	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.78314	0.978;0.991	T	0.27706	-1.0066	9	.	.	.	-27.254	19.1701	0.93574	0.0:0.0:1.0:0.0	.	514;513	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	513;513;513;514	ENSP00000424254:E513K;ENSP00000426387:E513K;ENSP00000406955:E513K;ENSP00000372635:E514K	.	E	+	1	0	ZBTB38	142645457	1.000000	0.71417	0.754000	0.31244	0.918000	0.54935	9.476000	0.97823	2.543000	0.85770	0.650000	0.86243	GAA	ZBTB38	-	pfscan_Znf_C2H2		0.388	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141162767	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB38	253461	genome.wustl.edu	37	3	141164162	141164162	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr3:141164162G>C	ENST00000514251.1	+	4	3211	c.2932G>C	c.(2932-2934)Gag>Cag	p.E978Q	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E979Q|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E978Q					zinc finger and BTB domain containing 38									p.E978Q(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAAACTAAAGAGATGCCCAA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											28.0	29.0	29.0					3																	141164162		1936	4152	6088	SO:0001583	missense	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2932G>C	3.37:g.141164162G>C	ENSP00000426387:p.Glu978Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		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.E979Q	ENST00000514251.1	37	c.2935	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585974	0.28268	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.09350	3.0;3.0;2.99	5.65	4.77	0.60923	.	0.340374	0.27986	N	0.017055	T	0.07279	0.0184	L	0.32530	0.975	0.09310	N	1	B;B	0.26195	0.144;0.144	B;B	0.14023	0.01;0.01	T	0.25676	-1.0125	9	.	.	.	-15.1596	7.1219	0.25450	0.1406:0.1485:0.7109:0.0	.	979;978	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	Q	978;978;979	ENSP00000426387:E978Q;ENSP00000406955:E978Q;ENSP00000372635:E979Q	.	E	+	1	0	ZBTB38	142646852	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.717000	0.47227	2.665000	0.90641	0.650000	0.86243	GAG	ZBTB38	-	NULL		0.517	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	G			141164162	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	missense	SNP	0.109	C
ZNF532	55205	genome.wustl.edu	37	18	56587446	56587446	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr18:56587446G>A	ENST00000336078.4	+	4	2703	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	ZNF532_ENST00000591083.1_Missense_Mutation_p.E643K|ZNF532_ENST00000591230.1_Missense_Mutation_p.E643K|ZNF532_ENST00000589288.1_Missense_Mutation_p.E643K|ZNF532_ENST00000591808.1_Missense_Mutation_p.E643K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E643K(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CGTGCGCATCGAAGTAACGTG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											79.0	66.0	70.0					18																	56587446		2203	4300	6503	SO:0001583	missense	55205			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1927G>A	18.37:g.56587446G>A	ENSP00000338217:p.Glu643Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E643K	ENST00000336078.4	37	c.1927	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	-	16.98	3.270596	0.59540	.	.	ENSG00000074657	ENST00000336078	T	0.36340	1.26	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.54965	1.715	0.80722	D	1	P	0.45957	0.869	B	0.33690	0.168	T	0.18903	-1.0322	10	0.48119	T	0.1	-20.3296	15.7689	0.78149	0.0:0.0:0.8625:0.1375	.	643	Q9HCE3	ZN532_HUMAN	K	643	ENSP00000338217:E643K	ENSP00000338217:E643K	E	+	1	0	ZNF532	54738426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	1.414000	0.47017	0.544000	0.68410	GAA	ZNF532	-	NULL		0.517	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	G	NM_018181		56587446	+1	no_errors	ENST00000336078	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF645	158506	genome.wustl.edu	37	X	22291584	22291584	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chrX:22291584C>T	ENST00000323684.1	+	1	520	c.476C>T	c.(475-477)cCg>cTg	p.P159L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	159					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P159L(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CATATTGCTCCGCCACAAACT	0.463																																																	1	Substitution - Missense(1)	cervix(1)											81.0	80.0	81.0					X																	22291584		2203	4300	6503	SO:0001583	missense	158506			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.476C>T	X.37:g.22291584C>T	ENSP00000323348:p.Pro159Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	pfscan_Znf_RING,pfscan_Znf_C2H2	p.P159L	ENST00000323684.1	37	c.476	CCDS14205.1	X	.	.	.	.	.	.	.	.	.	.	C	8.386	0.838568	0.16891	.	.	ENSG00000175809	ENST00000323684	T	0.33654	1.4	3.57	1.79	0.24919	.	0.180731	0.34507	U	0.003909	T	0.25158	0.0611	L	0.42245	1.32	0.09310	N	1	B	0.28971	0.229	B	0.20577	0.03	T	0.14200	-1.0481	10	0.49607	T	0.09	.	7.1568	0.25643	0.0:0.759:0.0:0.241	.	159	Q8N7E2	ZN645_HUMAN	L	159	ENSP00000323348:P159L	ENSP00000323348:P159L	P	+	2	0	ZNF645	22201505	0.528000	0.26314	0.001000	0.08648	0.005000	0.04900	2.039000	0.41193	0.354000	0.24105	0.600000	0.82982	CCG	ZNF645	-	NULL		0.463	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF645	HGNC	protein_coding	OTTHUMT00000056037.1	C	NM_152577		22291584	+1	no_errors	ENST00000323684	ensembl	human	known	70_37	missense	SNP	0.004	T
ZNF728	388523	genome.wustl.edu	37	19	23171255	23171255	+	Splice_Site	SNP	T	T	A			TCGA-DS-A0VK-01A-21D-A10S-08	TCGA-DS-A0VK-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32b46e90-0ae6-4a05-a9b7-2789bbbe302f	50a0ff00-368c-4a4b-bd1c-61c55290fb5d	g.chr19:23171255T>A	ENST00000594710.1	-	2	149		c.e2-2			NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CAACGATCCCTGGAAAACACA	0.403																																																	0																																										SO:0001630	splice_region_variant	388523			BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.4-2A>T	19.37:g.23171255T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e2-2	ENST00000594710.1	37	c.4-2	CCDS59370.1	19																																																																																			ZNF728	-	-		0.403	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF728	HGNC	protein_coding	OTTHUMT00000465176.1	T	NM_001267716	Intron	23171255	-1	no_errors	ENST00000594710	ensembl	human	novel	70_37	splice_site	SNP	0.072	A
