#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
ABCA1	19	genome.wustl.edu	37	9	107593363	107593363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr9:107593363G>A	ENST00000374736.3	-	14	2129	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	579					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGGTCAGCTCGAGGACCAGGG	0.488																																																	0													66.0	61.0	63.0					9																	107593363		2203	4300	6503	SO:0001587	stop_gained	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1735C>T	9.37:g.107593363G>A	ENSP00000363868:p.Arg579*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R579*	ENST00000374736.3	37	c.1735	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	45	11.382708	0.99554	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.93	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9401	0.79747	0.0:0.0:0.8644:0.1356	.	.	.	.	X	579	.	ENSP00000363868:R579X	R	-	1	2	ABCA1	106633184	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.116000	0.57871	2.815000	0.96918	0.561000	0.74099	CGA	ABCA1	-	NULL		0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	G	NM_005502		107593363	-1	no_errors	ENST00000374736	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ABCB7	22	genome.wustl.edu	37	X	74295234	74295234	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:74295234G>A	ENST00000373394.3	-	6	825	c.818C>T	c.(817-819)cCc>cTc	p.P273L	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Missense_Mutation_p.P233L|ABCB7_ENST00000253577.3_Missense_Mutation_p.P274L			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	273	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.			LLPIMF -> PLPNHV (in Ref. 4; AAC39865). {ECO:0000305}.	cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AAACATGATGGGAAGAAGATT	0.363																																																	0													97.0	81.0	87.0					X																	74295234		2203	4300	6503	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.818C>T	X.37:g.74295234G>A	ENSP00000362492:p.Pro273Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.P274L	ENST00000373394.3	37	c.821		X	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713991	0.89112	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.99215	1.0877	10	0.87932	D	0	-5.8477	17.4372	0.87555	0.0:0.0:1.0:0.0	.	247;233;274;273;274	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	247;274;233;273;247	ENSP00000253577:P274L;ENSP00000343849:P233L;ENSP00000362492:P273L;ENSP00000436586:P247L	ENSP00000253577:P274L	P	-	2	0	ABCB7	74211959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.332000	0.79248	0.513000	0.50165	CCC	ABCB7	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.363	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	G	NM_004299		74295234	-1	no_errors	ENST00000253577	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCC11	85320	genome.wustl.edu	37	16	48249195	48249195	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:48249195G>A	ENST00000394747.1	-	7	1361	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	ABCC11_ENST00000353782.5_Missense_Mutation_p.R338C|ABCC11_ENST00000537808.1_Missense_Mutation_p.R338C|ABCC11_ENST00000394748.1_Missense_Mutation_p.R338C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R338C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	338	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACACGGATGCGCTGGTCGCTG	0.443																																																	0													132.0	123.0	126.0					16																	48249195		2201	4300	6501	SO:0001583	missense	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1012C>T	16.37:g.48249195G>A	ENSP00000378230:p.Arg338Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R338C	ENST00000394747.1	37	c.1012	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581836	0.86748	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.23	5.23	0.72850	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.947;1.0	D	0.95856	0.8879	10	0.72032	D	0.01	-16.9396	15.7055	0.77577	0.0:0.0:1.0:0.0	.	338;338	Q96J66-2;Q96J66	.;ABCCB_HUMAN	C	338	ENSP00000311326:R338C;ENSP00000349017:R338C;ENSP00000378231:R338C;ENSP00000378230:R338C;ENSP00000438530:R338C	ENSP00000311326:R338C	R	-	1	0	ABCC11	46806696	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	4.779000	0.62375	2.444000	0.82710	0.650000	0.86243	CGC	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.443	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	G	NM_032583		48249195	-1	no_errors	ENST00000356608	ensembl	human	known	70_37	missense	SNP	1.000	A
ANAPC2	29882	genome.wustl.edu	37	9	140082274	140082274	+	Silent	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr9:140082274C>T	ENST00000323927.2	-	2	403	c.399G>A	c.(397-399)gaG>gaA	p.E133E	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GAGTCCATTTCTCCAGCAGCT	0.587																																																	0													80.0	85.0	83.0					9																	140082274		2203	4300	6503	SO:0001819	synonymous_variant	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.399G>A	9.37:g.140082274C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.E133	ENST00000323927.2	37	c.399	CCDS7033.1	9																																																																																			ANAPC2	-	NULL		0.587	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	C	NM_013366		140082274	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	silent	SNP	1.000	T
AR	367	genome.wustl.edu	37	X	66765450	66765450	+	Silent	SNP	C	C	T	rs140987594		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:66765450C>T	ENST00000374690.3	+	1	986	c.462C>T	c.(460-462)gaC>gaT	p.D154D	AR_ENST00000396044.3_Silent_p.D154D|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.D154D	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	152	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CACCTCCGGACGAGGATGACT	0.677									Androgen Insensitivity Syndrome																																								0										1,3805		0,1,1625,554	14.0	10.0	11.0		462	-2.6	0.5	X	dbSNP_134	11	0,6691		0,0,2423,1845	no	coding-synonymous	AR	NM_000044.3		0,1,4048,2399	TT,TC,CC,C		0.0,0.0263,0.0095		154/921	66765450	1,10496	2180	4268	6448	SO:0001819	synonymous_variant	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.462C>T	X.37:g.66765450C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.D154	ENST00000374690.3	37	c.462	CCDS14387.1	X																																																																																			AR	-	pfam_Andrgn_rcpt		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66765450	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	silent	SNP	0.705	T
ARHGAP36	158763	genome.wustl.edu	37	X	130215717	130215717	+	Silent	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:130215717C>T	ENST00000276211.5	+	2	423	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	26					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGTTGTTGTCCGCCTTCATTT	0.532																																																	0													185.0	133.0	150.0					X																	130215717		2203	4300	6503	SO:0001819	synonymous_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.78C>T	X.37:g.130215717C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S26	ENST00000276211.5	37	c.78	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL		0.532	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130215717	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	silent	SNP	0.081	T
ART1	417	genome.wustl.edu	37	11	3681284	3681284	+	Nonsense_Mutation	SNP	C	C	T	rs145405723		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:3681284C>T	ENST00000250693.1	+	3	636	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	179					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCAGGTGTTCCGAGGTGTGCA	0.672																																																	0								C	stop/ARG	0,4402		0,0,2201	29.0	29.0	29.0		535	4.6	1.0	11	dbSNP_134	29	2,8590	2.2+/-6.3	0,2,4294	no	stop-gained	ART1	NM_004314.2		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		179/328	3681284	2,12992	2201	4296	6497	SO:0001587	stop_gained	417			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.535C>T	11.37:g.3681284C>T	ENSP00000250693:p.Arg179*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTD2|Q96KT9	Nonsense_Mutation	SNP	pfam_ART,prints_ART	p.R179*	ENST00000250693.1	37	c.535	CCDS7744.1	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101739	0.76983	0.0	2.33E-4	ENSG00000129744	ENST00000250693	.	.	.	5.53	4.6	0.57074	.	0.160799	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1342	0.48365	0.3475:0.6525:0.0:0.0	.	.	.	.	X	179	.	.	R	+	1	2	ART1	3637860	1.000000	0.71417	0.989000	0.46669	0.656000	0.38851	0.612000	0.24283	1.275000	0.44379	0.467000	0.42956	CGA	ART1	-	pfam_ART		0.672	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	HGNC	protein_coding	OTTHUMT00000032765.1	C	NM_004314		3681284	+1	no_errors	ENST00000250693	ensembl	human	known	70_37	nonsense	SNP	0.995	T
C15orf40	123207	genome.wustl.edu	37	15	83680351	83680351	+	Silent	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:83680351C>T	ENST00000513601.2	-	1	16	c.9G>A	c.(7-9)cgG>cgA	p.R3R	C15orf40_ENST00000565712.1_Silent_p.R3R|C15orf40_ENST00000304177.5_5'UTR|C15orf40_ENST00000451195.3_Silent_p.R3R|RP11-382A20.7_ENST00000570202.1_RNA|C15orf40_ENST00000538348.2_Silent_p.R3R|RP11-382A20.5_ENST00000566841.1_RNA			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	3								p.R3R(1)		large_intestine(3)|lung(2)|skin(1)	6						CGCTGCGGAGCCGCAGCATCC	0.706											OREG0023391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	ovary(1)											14.0	18.0	17.0					15																	83680351		691	1590	2281	SO:0001819	synonymous_variant	123207			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.9G>A	15.37:g.83680351C>T		Somatic	1223	WXS	Illumina HiSeq	Phase_IV	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Silent	SNP	pfam_DUF167,superfamily_DUF167	p.R3	ENST00000513601.2	37	c.9	CCDS32312.2	15																																																																																			C15orf40	-	NULL		0.706	C15orf40-001	KNOWN	basic|CCDS	protein_coding	C15orf40	HGNC	protein_coding	OTTHUMT00000360737.2	C	NM_144597		83680351	-1	no_errors	ENST00000451195	ensembl	human	known	70_37	silent	SNP	0.000	T
CA6	765	genome.wustl.edu	37	1	9034438	9034438	+	Intron	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:9034438C>T	ENST00000377443.2	+	8	848				CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Nonsense_Mutation_p.Q293*	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI						bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TGGGAGAAGCCAAAATCCAAG	0.512																																																	0													10.0	9.0	9.0					1																	9034438		872	1986	2858	SO:0001627	intron_variant	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.845-243C>T	1.37:g.9034438C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Nonsense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q293*	ENST00000377443.2	37	c.877	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861658	0.17178	.	.	ENSG00000131686	ENST00000377436	.	.	.	2.73	-0.23	0.13090	.	57.695000	0.00166	N	0.000000	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3128	0.15839	0.0:0.5842:0.0:0.4158	.	.	.	.	X	293	.	ENSP00000366654:Q293X	Q	+	1	0	CA6	8957025	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.030000	0.13688	-0.056000	0.13221	0.563000	0.77884	CAA	CA6	-	NULL		0.512	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	HGNC	protein_coding	OTTHUMT00000004911.1	C			9034438	+1	no_errors	ENST00000377436	ensembl	human	putative	70_37	nonsense	SNP	0.004	T
ERICH3	127254	genome.wustl.edu	37	1	75038216	75038216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:75038216G>A	ENST00000326665.5	-	14	3396	c.3178C>T	c.(3178-3180)Cga>Tga	p.R1060*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1060	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTTCCTTCGCTCTCTTGCT	0.433																																																	0													157.0	167.0	164.0					1																	75038216		2203	4300	6503	SO:0001587	stop_gained	127254																														ENST00000326665.5:c.3178C>T	1.37:g.75038216G>A	ENSP00000322609:p.Arg1060*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.R1060*	ENST00000326665.5	37	c.3178	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.899480	0.98551	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.06	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.30963	N	0.723411	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-10.433	6.3798	0.21527	0.0:0.0901:0.1625:0.7474	.	.	.	.	X	1060	.	ENSP00000322609:R1060X	R	-	1	2	C1orf173	74810804	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.053000	0.11846	0.218000	0.20820	-1.238000	0.01547	CGA	C1orf173	-	NULL		0.433	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75038216	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	nonsense	SNP	0.409	A
CASC5	57082	genome.wustl.edu	37	15	40914824	40914824	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:40914824G>A	ENST00000346991.5	+	11	2830	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.E788K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	814					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AACTAATTTAGAACACACTAC	0.373																																																	0													74.0	65.0	68.0					15																	40914824		1864	4097	5961	SO:0001583	missense	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2440G>A	15.37:g.40914824G>A	ENSP00000335463:p.Glu814Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.E814K	ENST00000346991.5	37	c.2440	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428701	0.43122	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07444	3.19;3.19	4.71	2.84	0.33178	.	0.441463	0.19152	N	0.121440	T	0.11580	0.0282	M	0.71036	2.16	0.21184	N	0.999766	B;B;B	0.26602	0.037;0.015;0.154	B;B;B	0.26202	0.067;0.046;0.046	T	0.12734	-1.0536	10	0.51188	T	0.08	.	9.9184	0.41448	0.2262:0.0:0.7738:0.0	.	788;814;788	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	K	814;788;788	ENSP00000335463:E814K;ENSP00000382576:E788K	ENSP00000260369:E788K	E	+	1	0	CASC5	38702116	.	.	0.917000	0.36280	0.083000	0.17756	.	.	0.619000	0.30197	0.557000	0.71058	GAA	CASC5	-	NULL		0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	G	NM_144508		40914824	+1	no_errors	ENST00000346991	ensembl	human	known	70_37	missense	SNP	0.894	A
CCDC74B	91409	genome.wustl.edu	37	2	130900165	130900165	+	Intron	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:130900165G>A	ENST00000310463.6	-	3	433				CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000392984.3_Missense_Mutation_p.L131F	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B											endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGGGAAGGGAGAGCCCTAGGC	0.602																																																	0																																										SO:0001627	intron_variant	91409				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.296-211C>T	2.37:g.130900165G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.L131F	ENST00000310463.6	37	c.391	CCDS2155.1	2	.	.	.	.	.	.	.	.	.	.	.	7.048	0.563945	0.13498	.	.	ENSG00000152076	ENST00000392984	T	0.32753	1.44	1.69	-0.869	0.10649	.	0.475392	0.14658	U	0.306133	T	0.15565	0.0375	.	.	.	0.09310	N	1	P	0.36438	0.553	B	0.25987	0.065	T	0.10753	-1.0616	9	0.87932	D	0	-3.9273	3.6782	0.08299	0.0:0.2754:0.4451:0.2795	.	131	E7ESC5	.	F	131	ENSP00000376710:L131F	ENSP00000376710:L131F	L	-	1	0	CCDC74B	130616635	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.037000	0.12164	-0.480000	0.06803	-0.529000	0.04317	CTC	CCDC74B	-	NULL		0.602	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	G	NM_207310		130900165	-1	no_errors	ENST00000392984	ensembl	human	known	70_37	missense	SNP	0.000	A
CCDC141	285025	genome.wustl.edu	37	2	179749674	179749674	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:179749674G>A	ENST00000409284.1	-	11	1790	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	CCDC141_ENST00000295723.5_5'UTR|CCDC141_ENST00000420890.2_Missense_Mutation_p.S558L			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	558										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGACTTGCGATCTATAGTC	0.408																																																	0																																										SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1673C>T	2.37:g.179749674G>A	ENSP00000386503:p.Ser558Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S558L	ENST00000409284.1	37	c.1673		2	.	.	.	.	.	.	.	.	.	.	G	0.294	-0.978123	0.02197	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T	0.39997	1.05;1.43;1.67	5.1	1.96	0.26148	.	.	.	.	.	T	0.28699	0.0711	L	0.37630	1.12	0.27607	N	0.948785	B	0.06786	0.001	B	0.04013	0.001	T	0.25328	-1.0135	9	0.20519	T	0.43	.	6.8042	0.23768	0.73:0.0:0.27:0.0	.	558	B8ZZB3	.	L	558;2;558;493;558	ENSP00000395995:S558L;ENSP00000344627:S2L;ENSP00000390190:S558L	ENSP00000344627:S2L	S	-	2	0	CCDC141	179457919	0.058000	0.20735	0.030000	0.17652	0.001000	0.01503	0.438000	0.21559	0.116000	0.18110	-0.899000	0.02877	TCG	CCDC141	-	NULL		0.408	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	HGNC	protein_coding	OTTHUMT00000335873.1	G	NM_173648		179749674	-1	no_errors	ENST00000420890	ensembl	human	known	70_37	missense	SNP	0.409	A
CCNT1	904	genome.wustl.edu	37	12	49093609	49093609	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:49093609T>C	ENST00000261900.3	-	5	670	c.448A>G	c.(448-450)Att>Gtt	p.I150V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	150					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GGGTGATCAATTGTTAGTTCA	0.308																																																	0													233.0	232.0	232.0					12																	49093609		2203	4300	6503	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.448A>G	12.37:g.49093609T>C	ENSP00000261900:p.Ile150Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.I150V	ENST00000261900.3	37	c.448	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	t	11.66	1.706064	0.30232	.	.	ENSG00000129315	ENST00000261900	T	0.29917	1.55	4.99	4.99	0.66335	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.38733	1.17	0.80722	D	1	B	0.22276	0.067	B	0.23275	0.045	T	0.04427	-1.0952	10	0.25106	T	0.35	-14.2857	13.98	0.64299	0.0:0.0:0.0:1.0	.	150	O60563	CCNT1_HUMAN	V	150	ENSP00000261900:I150V	ENSP00000261900:I150V	I	-	1	0	CCNT1	47379876	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.018000	0.88722	2.007000	0.58848	0.528000	0.53228	ATT	CCNT1	-	superfamily_Cyclin-like		0.308	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	T	NM_001240		49093609	-1	no_errors	ENST00000261900	ensembl	human	known	70_37	missense	SNP	1.000	C
CDHR2	54825	genome.wustl.edu	37	5	176004413	176004413	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:176004413C>G	ENST00000510636.1	+	13	1482	c.1208C>G	c.(1207-1209)aCc>aGc	p.T403S	CDHR2_ENST00000261944.5_Missense_Mutation_p.T403S|CDHR2_ENST00000506348.1_Missense_Mutation_p.T403S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCAATGGCACCTTCCTGTTG	0.637																																																	0													21.0	25.0	24.0					5																	176004413		2203	4300	6503	SO:0001583	missense	54825			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1208C>G	5.37:g.176004413C>G	ENSP00000424565:p.Thr403Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T403S	ENST00000510636.1	37	c.1208	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122933	0.20959	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60299	0.2;0.2;0.2	4.38	4.38	0.52667	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.49643	0.1569	M	0.66439	2.03	0.34856	D	0.742129	P	0.40834	0.73	B	0.32533	0.147	T	0.61272	-0.7096	9	0.22109	T	0.4	-32.574	12.4216	0.55524	0.1669:0.8331:0.0:0.0	.	403	Q9BYE9	CDHR2_HUMAN	S	403	ENSP00000424565:T403S;ENSP00000261944:T403S;ENSP00000421078:T403S	ENSP00000261944:T403S	T	+	2	0	CDHR2	175937019	1.000000	0.71417	0.999000	0.59377	0.203000	0.24098	1.575000	0.36493	2.442000	0.82660	0.448000	0.29417	ACC	CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	C	NM_017675		176004413	+1	no_errors	ENST00000261944	ensembl	human	known	70_37	missense	SNP	1.000	G
CDK5RAP3	80279	genome.wustl.edu	37	17	46053338	46053338	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:46053338C>T	ENST00000338399.4	+	8	863	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.P278S	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	253					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGTGGAACGACCCCACCTCGA	0.602																																																	0													62.0	64.0	63.0					17																	46053338		2095	4211	6306	SO:0001583	missense	80279			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.757C>T	17.37:g.46053338C>T	ENSP00000344683:p.Pro253Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.P253S	ENST00000338399.4	37	c.757	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872784	0.72180	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.50813	0.73;0.73	5.19	4.2	0.49525	.	0.106601	0.64402	D	0.000003	T	0.72112	0.3420	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.973;1.0;0.983	T	0.75019	-0.3465	10	0.30078	T	0.28	-20.1912	14.176	0.65542	0.1512:0.8488:0.0:0.0	.	278;166;253;28	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	278;253	ENSP00000438886:P278S;ENSP00000344683:P253S	ENSP00000344683:P253S	P	+	1	0	CDK5RAP3	43408337	1.000000	0.71417	0.978000	0.43139	0.476000	0.33039	4.110000	0.57831	1.268000	0.44264	0.655000	0.94253	CCC	CDK5RAP3	-	pfam_DUF773		0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	C	NM_176096		46053338	+1	no_errors	ENST00000338399	ensembl	human	known	70_37	missense	SNP	1.000	T
CDKL5	6792	genome.wustl.edu	37	X	18593569	18593569	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:18593569C>T	ENST00000379989.3	+	6	526	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	CDKL5_ENST00000379996.3_Missense_Mutation_p.R81W	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCATTTCGTCGGAGGGGAAA	0.383																																																	0													190.0	175.0	180.0					X																	18593569		2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.241C>T	X.37:g.18593569C>T	ENSP00000369325:p.Arg81Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R81W	ENST00000379989.3	37	c.241	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735291	0.69189	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.67523	-0.27;-0.27	5.68	2.51	0.30379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045657	0.85682	D	0.000000	T	0.74741	0.3756	L	0.46670	1.46	0.47308	D	0.999385	D	0.89917	1.0	D	0.81914	0.995	T	0.75519	-0.3289	10	0.72032	D	0.01	-14.0896	13.0457	0.58924	0.5627:0.4373:0.0:0.0	.	81	O76039	CDKL5_HUMAN	W	81	ENSP00000369332:R81W;ENSP00000369325:R81W	ENSP00000369325:R81W	R	+	1	2	CDKL5	18503490	0.997000	0.39634	0.997000	0.53966	0.895000	0.52256	1.265000	0.33027	0.489000	0.27749	-0.245000	0.11935	CGG	CDKL5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.383	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	C	NM_003159		18593569	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	missense	SNP	0.994	T
CEACAM8	1088	genome.wustl.edu	37	19	43093883	43093883	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:43093883C>G	ENST00000244336.5	-	3	530	c.429G>C	c.(427-429)gaG>gaC	p.E143D	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	143					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GCTTGGGAGTCTCCGCTGTGC	0.532																																																	0													143.0	138.0	140.0					19																	43093883		2203	4300	6503	SO:0001583	missense	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.429G>C	19.37:g.43093883C>G	ENSP00000244336:p.Glu143Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O60399|Q16574	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E143D	ENST00000244336.5	37	c.429	CCDS12610.1	19	.	.	.	.	.	.	.	.	.	.	c	7.886	0.731178	0.15507	.	.	ENSG00000124469	ENST00000244336	T	0.19105	2.17	2.7	-0.961	0.10337	.	.	.	.	.	T	0.29061	0.0722	M	0.92317	3.295	0.09310	N	1	B	0.13594	0.008	B	0.21917	0.037	T	0.45131	-0.9282	9	0.54805	T	0.06	.	2.7424	0.05257	0.0:0.4214:0.2552:0.3234	.	143	P31997	CEAM8_HUMAN	D	143	ENSP00000244336:E143D	ENSP00000244336:E143D	E	-	3	2	CEACAM8	47785723	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.176000	0.03099	0.016000	0.14998	0.313000	0.20887	GAG	CEACAM8	-	NULL		0.532	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM8	HGNC	protein_coding	OTTHUMT00000321430.1	C			43093883	-1	no_errors	ENST00000244336	ensembl	human	known	70_37	missense	SNP	0.000	G
CLHC1	130162	genome.wustl.edu	37	2	55436648	55436648	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:55436648G>C	ENST00000401408.1	-	7	1051	c.706C>G	c.(706-708)Caa>Gaa	p.Q236E	CLHC1_ENST00000407122.1_Missense_Mutation_p.Q236E|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.Q114E	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	236																	TGCAGTCTTTGATGACTAAAA	0.318																																																	0													74.0	79.0	77.0					2																	55436648		2203	4299	6502	SO:0001583	missense	130162				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.706C>G	2.37:g.55436648G>C	ENSP00000384869:p.Gln236Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.Q236E	ENST00000401408.1	37	c.706	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	G	8.199	0.797783	0.16327	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.17054	2.3;2.3;2.31	5.48	4.53	0.55603	.	0.249218	0.29838	N	0.011069	T	0.15219	0.0367	M	0.62723	1.935	0.80722	D	1	B	0.34015	0.435	B	0.24974	0.057	T	0.02625	-1.1132	10	0.25751	T	0.34	-5.2013	9.8342	0.40960	0.0:0.0:0.7452:0.2548	.	236	Q8NHS4	CB063_HUMAN	E	236;236;114	ENSP00000385778:Q236E;ENSP00000384869:Q236E;ENSP00000385512:Q114E	ENSP00000384869:Q236E	Q	-	1	0	C2orf63	55290152	1.000000	0.71417	0.995000	0.50966	0.081000	0.17604	2.366000	0.44204	2.567000	0.86603	0.655000	0.94253	CAA	CLHC1	-	pirsf_Clathrin_heavy-chain-rel		0.318	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	G	NM_152385		55436648	-1	no_errors	ENST00000401408	ensembl	human	known	70_37	missense	SNP	0.994	C
CNN3	1266	genome.wustl.edu	37	1	95367349	95367349	+	Intron	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:95367349G>T	ENST00000370206.4	-	5	768				CNN3_ENST00000394202.4_Intron|CNN3_ENST00000487539.1_Intron|CNN3_ENST00000538964.1_Intron|CNN3_ENST00000545882.1_Intron	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic						actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		AGCCTAGACAGAAACATGCAC	0.358																																																	0													75.0	68.0	70.0					1																	95367349		2203	4300	6503	SO:0001627	intron_variant	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.385-8C>A	1.37:g.95367349G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFK6|B4DP09|F8WA86|Q6FHA7	RNA	SNP	-	NULL	ENST00000370206.4	37	NULL	CCDS30775.1	1																																																																																			CNN3	-	-		0.358	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2	G	NM_001839		95367349	-1	no_errors	ENST00000461018	ensembl	human	known	70_37	rna	SNP	0.923	T
CUL7	9820	genome.wustl.edu	37	6	43006110	43006110	+	Silent	SNP	G	G	A	rs377313389		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:43006110G>A	ENST00000265348.3	-	25	4753	c.4668C>T	c.(4666-4668)gaC>gaT	p.D1556D	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.D1640D			Q14999	CUL7_HUMAN	cullin 7	1556					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTTCTGGCCGTCTTCACCCT	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19864	0.0		0.0	False		,,,				2504	0.0																0								C	,	0,4406		0,0,2203	129.0	110.0	116.0		4920,4668	3.4	1.0	6		116	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	CUL7	NM_001168370.1,NM_014780.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	1640/1783,1556/1699	43006110	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4668C>T	6.37:g.43006110G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.D1640	ENST00000265348.3	37	c.4920	CCDS4881.1	6																																																																																			CUL7	-	NULL		0.557	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43006110	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	silent	SNP	1.000	A
CX3CR1	1524	genome.wustl.edu	37	3	39307021	39307021	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:39307021G>C	ENST00000541347.1	-	2	1219	c.980C>G	c.(979-981)tCt>tGt	p.S327C	CX3CR1_ENST00000542107.1_Missense_Mutation_p.S327C|CX3CR1_ENST00000399220.2_Missense_Mutation_p.S327C|CX3CR1_ENST00000358309.3_Missense_Mutation_p.S359C	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	327					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTGATTCAGATGAGGAGAA	0.488																																																	0													133.0	131.0	132.0					3																	39307021		1964	4166	6130	SO:0001583	missense	1524			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.980C>G	3.37:g.39307021G>C	ENSP00000439140:p.Ser327Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.S359C	ENST00000541347.1	37	c.1076	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906159	0.33628	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.7	4.77	0.60923	.	3.212480	0.00644	N	0.000537	T	0.43634	0.1256	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.31888	-0.9927	10	0.62326	D	0.03	.	12.3188	0.54973	0.0:0.0:0.7142:0.2858	.	327	P49238	CX3C1_HUMAN	C	327;335;359;327;327	ENSP00000382166:S327C;ENSP00000351059:S359C;ENSP00000439140:S327C;ENSP00000444928:S327C	ENSP00000351059:S359C	S	-	2	0	CX3CR1	39282025	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	0.166000	0.16583	2.703000	0.92315	0.655000	0.94253	TCT	CX3CR1	-	NULL		0.488	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	G	NM_001337		39307021	-1	no_errors	ENST00000358309	ensembl	human	known	70_37	missense	SNP	0.002	C
DCP2	167227	genome.wustl.edu	37	5	112327822	112327822	+	Silent	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:112327822C>T	ENST00000389063.2	+	3	408	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DCP2_ENST00000515408.1_Silent_p.F70F|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	70					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTATACTCTTCAGTCATTGTC	0.338																																																	0													187.0	175.0	179.0					5																	112327822		2202	4300	6502	SO:0001819	synonymous_variant	167227			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.210C>T	5.37:g.112327822C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.F70	ENST00000389063.2	37	c.210	CCDS34210.1	5																																																																																			DCP2	-	pfam_mRNA_decapping_BoxA		0.338	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	HGNC	protein_coding	OTTHUMT00000370765.3	C	NM_152624		112327822	+1	no_errors	ENST00000389063	ensembl	human	known	70_37	silent	SNP	1.000	T
DENND2A	27147	genome.wustl.edu	37	7	140302004	140302004	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:140302004C>T	ENST00000275884.6	-	2	611	c.194G>A	c.(193-195)aGc>aAc	p.S65N	DENND2A_ENST00000537639.1_Missense_Mutation_p.S65N|DENND2A_ENST00000496613.1_Missense_Mutation_p.S65N|DENND2A_ENST00000492720.1_Missense_Mutation_p.S65N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	65					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGCTCTCCTGCTGGGTGCAGG	0.552																																																	0													182.0	173.0	176.0					7																	140302004		1946	4153	6099	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.194G>A	7.37:g.140302004C>T	ENSP00000275884:p.Ser65Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S65N	ENST00000275884.6	37	c.194	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	9.716	1.158264	0.21454	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	4.63	1.66	0.24008	.	2.136720	0.01609	N	0.022454	T	0.67173	0.2865	L	0.27053	0.805	0.09310	N	1	P;B	0.36282	0.546;0.02	B;B	0.33121	0.158;0.039	T	0.53961	-0.8364	10	0.20046	T	0.44	-5.2133	10.7157	0.46011	0.1349:0.5893:0.2758:0.0	.	65;65	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	N	65	ENSP00000275884:S65N;ENSP00000442245:S65N;ENSP00000419654:S65N;ENSP00000419464:S65N;ENSP00000418844:S65N;ENSP00000418088:S65N	ENSP00000275884:S65N	S	-	2	0	DENND2A	139948473	0.197000	0.23362	0.008000	0.14137	0.052000	0.14988	0.111000	0.15458	0.145000	0.18977	0.655000	0.94253	AGC	DENND2A	-	NULL		0.552	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140302004	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	0.006	T
DGAT2L6	347516	genome.wustl.edu	37	X	69424301	69424301	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:69424301A>G	ENST00000333026.3	+	6	894	c.794A>G	c.(793-795)cAt>cGt	p.H265R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	265					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGTACCTTCCATGGCCGGGGC	0.502																																																	0													75.0	69.0	71.0					X																	69424301		2203	4300	6503	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.794A>G	X.37:g.69424301A>G	ENSP00000328036:p.His265Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEE2	Missense_Mutation	SNP	pfam_DAGAT	p.H265R	ENST00000333026.3	37	c.794	CCDS14397.1	X	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240551	0.39598	.	.	ENSG00000184210	ENST00000333026	D	0.93076	-3.16	4.98	3.81	0.43845	.	0.262240	0.33110	N	0.005265	D	0.93759	0.8005	M	0.65677	2.01	0.32889	D	0.511565	P	0.47677	0.899	P	0.55260	0.772	D	0.92889	0.6329	10	0.33940	T	0.23	-5.6303	8.0438	0.30536	0.9022:0.0:0.0978:0.0	.	265	Q6ZPD8	DG2L6_HUMAN	R	265	ENSP00000328036:H265R	ENSP00000328036:H265R	H	+	2	0	DGAT2L6	69341026	1.000000	0.71417	0.991000	0.47740	0.005000	0.04900	5.240000	0.65378	0.728000	0.32382	-0.360000	0.07572	CAT	DGAT2L6	-	pfam_DAGAT		0.502	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	A	NM_198512		69424301	+1	no_errors	ENST00000333026	ensembl	human	known	70_37	missense	SNP	1.000	G
DHRS9	10170	genome.wustl.edu	37	2	169938392	169938392	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:169938392G>T	ENST00000327239.4	+	5	1805	c.301G>T	c.(301-303)Gtt>Ttt	p.V101F	DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.V101F|DHRS9_ENST00000432060.2_Missense_Mutation_p.V161F|DHRS9_ENST00000428522.1_Missense_Mutation_p.V101F|DHRS9_ENST00000357546.2_Missense_Mutation_p.V101F|DHRS9_ENST00000412271.1_Missense_Mutation_p.V101F|DHRS9_ENST00000436483.2_Missense_Mutation_p.V101F	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	101					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAAGAACCAAGTTGGGGAGAA	0.473																																																	0													40.0	40.0	40.0					2																	169938392		2203	4300	6503	SO:0001583	missense	10170			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.301G>T	2.37:g.169938392G>T	ENSP00000316670:p.Val101Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.V161F	ENST00000327239.4	37	c.481	CCDS2231.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843427	0.91197	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000436483;ENST00000412271	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.63	5.63	0.86233	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	N	0.16266	0.395	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	D;D	0.81914	0.991;0.995	D	0.90661	0.4590	10	0.87932	D	0	.	19.6317	0.95708	0.0:0.0:1.0:0.0	.	161;101	B7Z416;Q9BPW9	.;DHRS9_HUMAN	F	101;101;161;101;101;101	ENSP00000316670:V101F;ENSP00000350154:V101F;ENSP00000389241:V161F;ENSP00000388564:V101F;ENSP00000407167:V101F;ENSP00000407747:V101F	ENSP00000316670:V101F	V	+	1	0	DHRS9	169646638	1.000000	0.71417	0.778000	0.31720	0.952000	0.60782	6.107000	0.71517	2.818000	0.97014	0.591000	0.81541	GTT	DHRS9	-	pfam_DH_sc/Rdtase_SDR		0.473	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	HGNC	protein_coding	OTTHUMT00000333612.3	G	NM_005771		169938392	+1	no_errors	ENST00000432060	ensembl	human	known	70_37	missense	SNP	0.999	T
DLG3	1741	genome.wustl.edu	37	X	69670155	69670155	+	Splice_Site	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:69670155G>A	ENST00000374360.3	+	5	1073	c.840G>A	c.(838-840)gcG>gcA	p.A280A	DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000431103.1_RNA|RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000194900.4_Splice_Site_p.A298A|DLG3-AS1_ENST00000424211.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	280	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGCTGCTGGCGGTGAGACAGA	0.562																																																	0													23.0	20.0	21.0					X																	69670155		2196	4264	6460	SO:0001630	splice_region_variant	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.840+1G>A	X.37:g.69670155G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A298	ENST00000374360.3	37	c.894	CCDS14403.1	X																																																																																			DLG3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ		0.562	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	G	NM_021120	Silent	69670155	+1	no_errors	ENST00000194900	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAJA2	10294	genome.wustl.edu	37	16	46992983	46992983	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:46992983C>G	ENST00000317089.5	-	8	1194	c.979G>C	c.(979-981)Ggt>Cgt	p.G327R		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	327					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TAAAGATCACCTTTTTCAAAG	0.363																																																	0													88.0	85.0	86.0					16																	46992983		2203	4300	6503	SO:0001583	missense	10294			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.979G>C	16.37:g.46992983C>G	ENSP00000314030:p.Gly327Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7L7|O14711	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.G327R	ENST00000317089.5	37	c.979	CCDS10726.1	16	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428524	0.62844	.	.	ENSG00000069345	ENST00000317089	D	0.91740	-2.9	5.73	4.75	0.60458	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.048769	0.85682	D	0.000000	D	0.97779	0.9271	H	0.98786	4.33	0.80722	D	1	D	0.71674	0.998	D	0.70716	0.97	D	0.98979	1.0804	10	0.87932	D	0	-32.2227	16.9035	0.86119	0.0:0.8725:0.1275:0.0	.	327	O60884	DNJA2_HUMAN	R	327	ENSP00000314030:G327R	ENSP00000314030:G327R	G	-	1	0	DNAJA2	45550484	1.000000	0.71417	0.996000	0.52242	0.012000	0.07955	6.076000	0.71267	2.722000	0.93159	0.650000	0.86243	GGT	DNAJA2	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd		0.363	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA2	HGNC	protein_coding	OTTHUMT00000256769.2	C			46992983	-1	no_errors	ENST00000317089	ensembl	human	known	70_37	missense	SNP	1.000	G
ECHDC3	79746	genome.wustl.edu	37	10	11797400	11797400	+	Intron	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr10:11797400C>T	ENST00000379215.4	+	4	601				ECHDC3_ENST00000496136.1_Intron	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3							mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GTGTGTTTGTCCCGCAGGTCA	0.532																																																	0													75.0	53.0	60.0					10																	11797400		2203	4300	6503	SO:0001627	intron_variant	79746			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.391-7C>T	10.37:g.11797400C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	RNA	SNP	-	NULL	ENST00000379215.4	37	NULL	CCDS7084.1	10																																																																																			ECHDC3	-	-		0.532	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC3	HGNC	protein_coding	OTTHUMT00000046771.1	C	NM_024693		11797400	+1	no_errors	ENST00000495787	ensembl	human	known	70_37	rna	SNP	0.000	T
DNAJC1	64215	genome.wustl.edu	37	10	22048362	22048362	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr10:22048362G>A	ENST00000376980.3	-	11	1623	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	445					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCTGGCTTCCGCCTCCGAGGC	0.652																																																	0													48.0	49.0	49.0					10																	22048362		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1333C>T	10.37:g.22048362G>A	ENSP00000366179:p.Arg445Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.R445W	ENST00000376980.3	37	c.1333	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251378	0.59212	.	.	ENSG00000136770	ENST00000376980	T	0.67698	-0.28	5.58	1.3	0.21679	.	0.339861	0.24339	N	0.039391	T	0.77605	0.4155	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.77691	-0.2493	10	0.66056	D	0.02	-8.2757	15.1494	0.72684	0.0:0.0:0.3857:0.6143	.	166;445	Q96NY3;Q96KC8	.;DNJC1_HUMAN	W	445	ENSP00000366179:R445W	ENSP00000366179:R445W	R	-	1	2	DNAJC1	22088368	0.998000	0.40836	0.769000	0.31535	0.332000	0.28634	1.497000	0.35649	-0.021000	0.14009	0.491000	0.48974	CGG	DNAJC1	-	NULL		0.652	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	G	NM_022365		22048362	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.997	A
ELK1	2002	genome.wustl.edu	37	X	47498360	47498360	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:47498360G>T	ENST00000247161.3	-	3	687	c.588C>A	c.(586-588)agC>agA	p.S196R	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.S196R|ELK1_ENST00000592066.1_Missense_Mutation_p.S142R	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	196					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGGTGCTCCTGCTCCCCGAGG	0.637																																																	0													10.0	9.0	10.0					X																	47498360		2197	4267	6464	SO:0001583	missense	2002			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.588C>A	X.37:g.47498360G>T	ENSP00000247161:p.Ser196Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S196R	ENST00000247161.3	37	c.588	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546291	0.65198	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.23147	1.92;1.92	4.39	3.52	0.40303	.	0.511109	0.21492	N	0.073680	T	0.14874	0.0359	N	0.19112	0.55	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.06215	-1.0839	10	0.17832	T	0.49	.	7.7245	0.28753	0.1246:0.0:0.8754:0.0	.	196	P19419	ELK1_HUMAN	R	196	ENSP00000247161:S196R;ENSP00000366182:S196R	ENSP00000247161:S196R	S	-	3	2	ELK1	47383304	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.439000	0.35013	0.943000	0.37553	0.529000	0.55759	AGC	ELK1	-	NULL		0.637	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	G	NM_005229		47498360	-1	no_errors	ENST00000247161	ensembl	human	known	70_37	missense	SNP	1.000	T
ENAH	55740	genome.wustl.edu	37	1	225705419	225705419	+	Intron	SNP	T	T	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:225705419T>C	ENST00000366844.3	-	6	1254				ENAH_ENST00000284563.6_Missense_Mutation_p.K378R|ENAH_ENST00000391874.2_5'Flank|ENAH_ENST00000366843.2_Intron	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TCGAGAGTTTTTGTTCAGAGG	0.527																																																	0																																										SO:0001627	intron_variant	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.803-411A>G	1.37:g.225705419T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.K378R	ENST00000366844.3	37	c.1133	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666915	0.29604	.	.	ENSG00000154380	ENST00000284563	D	0.87256	-2.23	5.05	1.32	0.21799	.	0.211531	0.39274	N	0.001411	D	0.85418	0.5692	.	.	.	0.34021	D	0.652682	.	.	.	.	.	.	D	0.83408	0.0026	6	.	.	.	-6.6863	9.2254	0.37402	0.0:0.2066:0.0:0.7934	.	.	.	.	R	378	ENSP00000284563:K378R	.	K	-	2	0	ENAH	223772042	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.197000	0.51028	-0.032000	0.13758	0.383000	0.25322	AAA	ENAH	-	NULL		0.527	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	T	NM_018212		225705419	-1	no_errors	ENST00000284563	ensembl	human	novel	70_37	missense	SNP	1.000	C
LOC728715	728715	genome.wustl.edu	37	12	9723469	9723469	+	RNA	SNP	A	A	G	rs200641910	byFrequency	TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:9723469A>G	ENST00000520314.1	+	0	6149																											GTGGAAGGACACGGTTGTACA	0.453																																																	0																																												0																															12.37:g.9723469A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000520314.1	37	NULL		12																																																																																			RP11-726G1.1	-	-		0.453	RP11-726G1.1-002	KNOWN	basic	processed_transcript	ENSG00000214776	Clone_based_vega_gene	pseudogene	OTTHUMT00000381543.1	A			9723469	+1	no_errors	ENST00000520314	ensembl	human	known	70_37	rna	SNP	0.042	G
TDRD15	100129278	genome.wustl.edu	37	2	21363796	21363796	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:21363796A>G	ENST00000405799.1	+	4	3787	c.3457A>G	c.(3457-3459)Atg>Gtg	p.M1153V				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1153							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										AGCATGCTGCATGGAAAAGAG	0.313																																																	0																																										SO:0001583	missense	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.3457A>G	2.37:g.21363796A>G	ENSP00000384376:p.Met1153Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.M1153V	ENST00000405799.1	37	c.3457		2	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.573173	0.00133	.	.	ENSG00000218819	ENST00000405799	T	0.16324	2.35	5.39	1.35	0.21983	.	.	.	.	.	T	0.06096	0.0158	.	.	.	.	.	.	.	.	.	.	.	.	T	0.36986	-0.9725	5	0.10902	T	0.67	0.1755	0.8372	0.01142	0.2347:0.1285:0.3764:0.2604	.	.	.	.	V	1153	ENSP00000384376:M1153V	ENSP00000384376:M1153V	M	+	1	0	AC010872.2	21217301	0.000000	0.05858	0.147000	0.22382	0.094000	0.18550	-0.204000	0.09425	-0.036000	0.13669	-0.644000	0.03951	ATG	AC010872.2	-	NULL		0.313	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	ENSG00000218819	Clone_based_vega_gene	protein_coding	OTTHUMT00000323948.1	A			21363796	+1	no_errors	ENST00000405799	ensembl	human	novel	70_37	missense	SNP	0.001	G
ADGRF5P1	389740	genome.wustl.edu	37	9	66517927	66517927	+	RNA	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr9:66517927G>A	ENST00000590130.1	-	0	258																											TGTAGTAGCTGTGAACTCTGC	0.478																																																	0																																												0																															9.37:g.66517927G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000590130.1	37	NULL		9																																																																																			RP11-262H14.7	-	-		0.478	RP11-262H14.7-002	KNOWN	basic	processed_transcript	ENSG00000227582	Clone_based_vega_gene	pseudogene	OTTHUMT00000459856.1	G			66517927	-1	no_errors	ENST00000590130	ensembl	human	known	70_37	rna	SNP	0.948	A
AC103564.7	0	genome.wustl.edu	37	2	132587476	132587476	+	lincRNA	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:132587476C>T	ENST00000437330.1	-	0	459																											TCCGGGCGCGCGGCACAGCGG	0.791																																																	0																																												0																															2.37:g.132587476C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000437330.1	37	NULL		2																																																																																			AC103564.7	-	-		0.791	AC103564.7-001	KNOWN	basic	lincRNA	ENSG00000229203	Clone_based_vega_gene	lincRNA	OTTHUMT00000332207.1	C			132587476	-1	no_errors	ENST00000437330	ensembl	human	known	70_37	rna	SNP	0.855	T
RP11-782C8.2	0	genome.wustl.edu	37	1	143210571	143210572	+	lincRNA	DEL	AC	AC	-			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:143210571_143210572delAC	ENST00000412204.2	-	0	498_499				RP11-782C8.1_ENST00000438000.1_lincRNA																							ATAAAAGTAAACACACACACAC	0.297																																																	0																																												0																															1.37:g.143210581_143210582delAC		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.297	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	AC			143210572	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	DEL	0.083:0.084	-
RP11-1166P10.6	0	genome.wustl.edu	37	16	32095751	32095751	+	RNA	SNP	C	C	G	rs562259912		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:32095751C>G	ENST00000566806.1	-	0	355																											GCGGCCCCTGCGCCTCCCTCC	0.697																																																	0																																												0																															16.37:g.32095751C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000566806.1	37	NULL		16																																																																																			RP11-1166P10.6	-	-		0.697	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	ENSG00000261727	Clone_based_vega_gene	pseudogene	OTTHUMT00000432459.1	C			32095751	-1	no_errors	ENST00000566806	ensembl	human	known	70_37	rna	SNP	0.998	G
LPIN2	9663	genome.wustl.edu	37	18	2946117	2946117	+	Intron	SNP	C	C	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr18:2946117C>A	ENST00000261596.4	-	4	829				RP11-737O24.2_ENST00000584431.1_RNA|RP11-737O24.3_ENST00000581139.1_RNA|RP11-737O24.2_ENST00000581488.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTCTTATTTTCTTCATTCCCT	0.368																																																	0																																										SO:0001627	intron_variant	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.590+4935G>T	18.37:g.2946117C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD25|D3DUH3	RNA	SNP	-	NULL	ENST00000261596.4	37	NULL	CCDS11829.1	18																																																																																			RP11-737O24.3	-	-		0.368	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263606	Clone_based_vega_gene	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2946117	-1	no_errors	ENST00000581139	ensembl	human	known	70_37	rna	SNP	0.913	A
CRLF3	51379	genome.wustl.edu	37	17	29119682	29119682	+	Intron	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:29119682C>G	ENST00000324238.6	-	6	951				CRLF3_ENST00000544695.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3						G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				AAATGGGAGACTACTCTTAGG	0.338																																					Pancreas(30;346 881 29244 33464 41299)												0																																										SO:0001627	intron_variant	0			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.827-92G>C	17.37:g.29119682C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	RNA	SNP	-	NULL	ENST00000324238.6	37	NULL	CCDS32607.1	17																																																																																			CTD-2349P21.9	-	-		0.338	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266490	Clone_based_vega_gene	protein_coding	OTTHUMT00000444354.1	C			29119682	+1	no_errors	ENST00000580085	ensembl	human	known	70_37	rna	SNP	0.000	G
AC006116.24	0	genome.wustl.edu	37	19	56888204	56888204	+	RNA	SNP	C	C	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:56888204C>A	ENST00000591836.1	-	0	449				ZNF542_ENST00000490123.1_RNA																							GTTTAATTTGCTTCTGTTCAT	0.333																																																	0																																												0																															19.37:g.56888204C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			AC006116.24	-	-		0.333	AC006116.24-001	KNOWN	basic	sense_intronic	ENSG00000267776	Clone_based_vega_gene	sense_intronic	OTTHUMT00000459747.1	C			56888204	-1	no_errors	ENST00000591836	ensembl	human	known	70_37	rna	SNP	0.000	A
CTC-444N24.8	0	genome.wustl.edu	37	19	57773086	57773086	+	lincRNA	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:57773086G>A	ENST00000600047.1	+	0	365																											CATAATAAatgaatgctggag	0.413																																																	0																																												0																															19.37:g.57773086G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000600047.1	37	NULL		19																																																																																			CTC-444N24.8	-	-		0.413	CTC-444N24.8-001	KNOWN	basic	lincRNA	ENSG00000268713	Clone_based_vega_gene	lincRNA	OTTHUMT00000465723.1	G			57773086	+1	no_errors	ENST00000600047	ensembl	human	known	70_37	rna	SNP	0.027	A
EPB41L3	23136	genome.wustl.edu	37	18	5445243	5445243	+	Splice_Site	SNP	T	T	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr18:5445243T>G	ENST00000341928.2	-	4	722	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	EPB41L3_ENST00000400111.3_Splice_Site_p.K128Q|EPB41L3_ENST00000342933.3_Splice_Site_p.K128Q|EPB41L3_ENST00000540638.2_Splice_Site_p.K128Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Splice_Site_p.K128Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	128	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGAGCGTTTCTACAGAAAA	0.378																																																	0													107.0	89.0	95.0					18																	5445243		2203	4300	6503	SO:0001630	splice_region_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.382-1A>C	18.37:g.5445243T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.K128Q	ENST00000341928.2	37	c.382	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743436	0.89663	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.82	5.82	0.92795	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.87525	0.6199	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.999;0.999;1.0	D;D;D;D;D	0.81914	0.976;0.991;0.991;0.985;0.995	D	0.88891	0.3346	10	0.87932	D	0	.	15.1603	0.72778	0.0:0.0:0.0:1.0	.	128;128;19;128;128	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	Q	128;19;128;19;128;128;209	ENSP00000343158:K128Q;ENSP00000441174:K128Q;ENSP00000341138:K128Q;ENSP00000382981:K128Q	ENSP00000343158:K128Q	K	-	1	0	EPB41L3	5435243	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.654000	0.83653	2.222000	0.72286	0.383000	0.25322	AAA	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain		0.378	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	T	NM_012307	Missense_Mutation	5445243	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	missense	SNP	1.000	G
ERBB3	2065	genome.wustl.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A
ERV3-1	2086	genome.wustl.edu	37	7	64467013	64467013	+	5'UTR	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:64467013G>A	ENST00000394323.2	-	0	18				ERV3-1_ENST00000528878.1_5'UTR	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1							extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						TCTAGGAGCAGAAGACACAGA	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	2086			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.-483C>T	7.37:g.64467013G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000394323.2	37	NULL	CCDS47595.1	7																																																																																			ERV3-1	-	-		0.582	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	G	NM_001007253		64467013	-1	no_errors	ENST00000528878	ensembl	human	known	70_37	rna	SNP	0.052	A
EXO1	9156	genome.wustl.edu	37	1	242016700	242016700	+	Missense_Mutation	SNP	C	C	T	rs567681802	byFrequency	TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:242016700C>T	ENST00000366548.3	+	6	915	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	EXO1_ENST00000348581.5_Missense_Mutation_p.R108C|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Missense_Mutation_p.R108C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	108					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCAACTTCTTCGTGAGGGGAA	0.418								Editing and processing nucleases					C|||	2	0.000399361	0.0	0.0	5008	,	,		18499	0.0		0.0	False		,,,				2504	0.002																0													86.0	92.0	90.0					1																	242016700		2203	4300	6503	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.322C>T	1.37:g.242016700C>T	ENSP00000355506:p.Arg108Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.R108C	ENST00000366548.3	37	c.322	CCDS1620.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.127896	0.94473	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000523590;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497;ENST00000450748	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.73900	0.3646	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.85130	0.988;0.997;0.896	T	0.77574	-0.2537	10	0.87932	D	0	-0.8087	19.3526	0.94395	0.0:1.0:0.0:0.0	.	108;108;108	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	C	108;68;68;108;68;108;68;108	ENSP00000355506:R108C;ENSP00000415531:R68C;ENSP00000430082:R68C;ENSP00000311873:R108C;ENSP00000430251:R108C;ENSP00000412041:R68C;ENSP00000406652:R108C	ENSP00000311873:R108C	R	+	1	0	EXO1	240083323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.400000	0.79949	2.744000	0.94065	0.655000	0.94253	CGT	EXO1	-	NULL		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	C	NM_006027		242016700	+1	no_errors	ENST00000348581	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM115C	285966	genome.wustl.edu	37	7	143417134	143417134	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:143417134A>T	ENST00000441159.2	+	3	1048	c.982A>T	c.(982-984)Aac>Tac	p.N328Y	FAM115C_ENST00000409703.3_Missense_Mutation_p.N164Y|FAM115C_ENST00000411497.2_Missense_Mutation_p.N47Y|FAM115C_ENST00000411935.1_Missense_Mutation_p.N164Y|FAM115C_ENST00000444908.2_Missense_Mutation_p.N328Y|FAM115C_ENST00000357344.4_Missense_Mutation_p.N328Y|FAM115C_ENST00000425618.2_Missense_Mutation_p.N47Y			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	328					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCCCCATCTGAACAGCGACTT	0.562																																																	0													47.0	49.0	48.0					7																	143417134		2132	4278	6410	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.982A>T	7.37:g.143417134A>T	ENSP00000404265:p.Asn328Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.N328Y	ENST00000441159.2	37	c.982		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	8.392|8.392	0.840037|0.840037	0.16891|0.16891	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|T;T;T;T;T	.|0.22539	.|1.95;1.95;1.95;1.95;1.95	3.58|3.58	1.12|1.12	0.20585|0.20585	.|.	.|0.613195	.|0.18702	.|N	.|0.133560	T|T	0.10337|0.10337	0.0253|0.0253	N|N	0.08118|0.08118	0|0	0.22017|0.22017	N|N	0.999419|0.999419	.|P;B;P;P	.|0.42827	.|0.791;0.404;0.717;0.676	.|B;B;B;B	.|0.43508	.|0.422;0.222;0.177;0.395	T|T	0.11446|0.11446	-1.0587|-1.0587	5|10	.|0.72032	.|D	.|0.01	-16.254|-16.254	3.5351|3.5351	0.07792|0.07792	0.6812:0.0:0.1181:0.2007|0.6812:0.0:0.1181:0.2007	.|.	.|164;328;47;328	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	V|Y	142|328;47;328;328;164;164;47	.|ENSP00000412724:N328Y;ENSP00000349902:N328Y;ENSP00000404265:N328Y;ENSP00000389100:N164Y;ENSP00000386405:N164Y	.|ENSP00000349902:N328Y	E|N	+|+	2|1	0|0	FAM115C|FAM115C	143048067|143048067	0.384000|0.384000	0.25164|0.25164	0.007000|0.007000	0.13788|0.13788	0.026000|0.026000	0.11368|0.11368	0.859000|0.859000	0.27858|0.27858	0.472000|0.472000	0.27344|0.27344	0.338000|0.338000	0.21704|0.21704	GAA|AAC	FAM115C	-	NULL		0.562	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	A	NM_173678		143417134	+1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.660	T
FAM58A	92002	genome.wustl.edu	37	X	152858020	152858020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:152858020G>A	ENST00000406277.2	-	6	697	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	201					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)					endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTAGACCTGCAGGGCCAGG	0.687																																																	0													28.0	27.0	27.0					X																	152858020		2203	4299	6502	SO:0001587	stop_gained	92002			BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.595C>T	X.37:g.152858020G>A	ENSP00000384396:p.Gln199*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2I380|Q330J9|Q96IU5|Q9BUU1	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.Q199*	ENST00000406277.2	37	c.595		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.14|18.14	3.558305|3.558305	0.65538|0.65538	.|.	.|.	ENSG00000147382|ENSG00000147382	ENST00000440428|ENST00000370175;ENST00000406277;ENST00000370171;ENST00000276345;ENST00000370173	.|.	.|.	.|.	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.439260	.|0.26435	.|N	.|0.024392	T|.	0.41419|.	0.1158|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38628|.	-0.9652|.	3|.	.|0.06891	.|T	.|0.86	-17.1794|-17.1794	15.4604|15.4604	0.75353|0.75353	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	93|167;199;167;199;199	.|.	.|ENSP00000276345:Q199X	A|Q	-|-	2|1	0|0	FAM58A|FAM58A	152511214|152511214	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.649000|0.649000	0.38597|0.38597	3.238000|3.238000	0.51352|0.51352	1.976000|1.976000	0.57569|0.57569	0.429000|0.429000	0.28392|0.28392	GCA|CAG	FAM58A	-	superfamily_Cyclin-like,smart_Cyclin-like		0.687	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	FAM58A	HGNC	protein_coding		G	NM_152274		152858020	-1	no_errors	ENST00000406277	ensembl	human	known	70_37	nonsense	SNP	0.998	A
FAP	2191	genome.wustl.edu	37	2	163051248	163051248	+	Silent	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:163051248G>A	ENST00000188790.4	-	17	1620	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	FAP_ENST00000443424.1_Silent_p.I446I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGGAAATGGGGATGCCTGGGC	0.443																																																	0													160.0	142.0	148.0					2																	163051248		2203	4300	6503	SO:0001819	synonymous_variant	2191			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1413C>T	2.37:g.163051248G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I471	ENST00000188790.4	37	c.1413	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9B		0.443	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	G			163051248	-1	no_errors	ENST00000188790	ensembl	human	known	70_37	silent	SNP	0.980	A
FRYL	285527	genome.wustl.edu	37	4	48542058	48542058	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:48542058A>G	ENST00000503238.1	-	44	6322	c.6323T>C	c.(6322-6324)tTg>tCg	p.L2108S	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.L2108S|FRYL_ENST00000537810.1_Missense_Mutation_p.L2108S			O94915	FRYL_HUMAN	FRY-like	2108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TAAGTGAGGCAATAAGCAAAG	0.318																																																	0													104.0	91.0	95.0					4																	48542058		1849	4091	5940	SO:0001583	missense	285527			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6323T>C	4.37:g.48542058A>G	ENSP00000426064:p.Leu2108Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L2108S	ENST00000503238.1	37	c.6323	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179980	0.78564	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.41065	1.01;1.01;1.01	5.86	5.86	0.93980	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.994;0.974	T	0.68198	-0.5472	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	938;2108;2108	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	S	2108	ENSP00000426064:L2108S;ENSP00000351113:L2108S;ENSP00000441114:L2108S	ENSP00000351113:L2108S	L	-	2	0	FRYL	48236815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	TTG	FRYL	-	superfamily_ARM-type_fold		0.318	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	A			48542058	-1	no_errors	ENST00000358350	ensembl	human	known	70_37	missense	SNP	1.000	G
GGACT	87769	genome.wustl.edu	37	13	101184552	101184552	+	Silent	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:101184552C>T	ENST00000376250.2	-	3	688	c.294G>A	c.(292-294)ctG>ctA	p.L98L	GGACT_ENST00000455100.1_Silent_p.L98L			Q9BVM4	GGACT_HUMAN	gamma-glutamylamine cyclotransferase	98					cellular modified amino acid catabolic process (GO:0042219)	extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)										CCCGGTCCTCCAGCAGCTGTA	0.701																																																	0													9.0	15.0	14.0					13																	101184552		687	1582	2269	SO:0001819	synonymous_variant	87769				CCDS45066.1	13q32.3	2012-09-27	2012-09-27	2012-09-27	ENSG00000134864	ENSG00000134864	2.3.2.4		25100	protein-coding gene	gene with protein product		613378	"""AIG2-like domain 1"""	A2LD1		20110353	Standard	NM_001195087		Approved		uc001voq.2	Q9BVM4	OTTHUMG00000017291	ENST00000376250.2:c.294G>A	13.37:g.101184552C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTN1|Q9BT41	Silent	SNP	pfam_AIG2-like	p.L98	ENST00000376250.2	37	c.294	CCDS45066.1	13																																																																																			GGACT	-	pfam_AIG2-like		0.701	GGACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGACT	HGNC	protein_coding	OTTHUMT00000045655.2	C	NM_033110		101184552	-1	no_errors	ENST00000376250	ensembl	human	known	70_37	silent	SNP	0.010	T
GNB3	2784	genome.wustl.edu	37	12	6950484	6950484	+	Silent	SNP	G	G	A	rs566098814		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:6950484G>A	ENST00000229264.3	+	3	438	c.33G>A	c.(31-33)gcG>gcA	p.A11A	LEPREL2_ENST00000396725.2_RNA|GNB3_ENST00000435982.2_Silent_p.A11A|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	11					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTCAGGAAGCGGAGCAGCTCA	0.637																																																	0													63.0	64.0	64.0					12																	6950484		2203	4300	6503	SO:0001819	synonymous_variant	2784				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.33G>A	12.37:g.6950484G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96B71|Q9BQC0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.A11	ENST00000229264.3	37	c.33	CCDS8564.1	12																																																																																			GNB3	-	superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu		0.637	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB3	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6950484	+1	no_errors	ENST00000229264	ensembl	human	known	70_37	silent	SNP	0.337	A
GREB1	9687	genome.wustl.edu	37	2	11765420	11765420	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:11765420C>G	ENST00000381486.2	+	24	4588	c.4288C>G	c.(4288-4290)Cag>Gag	p.Q1430E	GREB1_ENST00000396123.1_Missense_Mutation_p.Q428E|GREB1_ENST00000234142.5_Missense_Mutation_p.Q1430E	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1430						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCGCACTATCAGGGTATAAA	0.488																																					Ovarian(39;850 945 2785 23371 33093)												0													248.0	230.0	236.0					2																	11765420		1911	4128	6039	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4288C>G	2.37:g.11765420C>G	ENSP00000370896:p.Gln1430Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	NULL	p.Q1430E	ENST00000381486.2	37	c.4288	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	0.560	-0.845774	0.02671	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.21932	3.3;3.3;1.98	5.0	5.0	0.66597	.	0.453013	0.25935	N	0.027360	T	0.26231	0.0640	L	0.54323	1.7	0.20638	N	0.999872	B	0.24882	0.113	B	0.30251	0.113	T	0.11616	-1.0580	10	0.32370	T	0.25	-13.9813	18.3031	0.90171	0.0:1.0:0.0:0.0	.	1430	Q4ZG55	GREB1_HUMAN	E	1430;1430;428	ENSP00000370896:Q1430E;ENSP00000234142:Q1430E;ENSP00000379429:Q428E	ENSP00000234142:Q1430E	Q	+	1	0	GREB1	11682871	0.594000	0.26849	0.014000	0.15608	0.031000	0.12232	1.934000	0.40163	2.315000	0.78130	0.655000	0.94253	CAG	GREB1	-	NULL		0.488	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	C	NM_014668		11765420	+1	no_errors	ENST00000234142	ensembl	human	known	70_37	missense	SNP	0.234	G
GRIK4	2900	genome.wustl.edu	37	11	120852839	120852839	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:120852839G>T	ENST00000527524.2	+	20	2707	c.2420G>T	c.(2419-2421)gGa>gTa	p.G807V	GRIK4_ENST00000438375.2_Missense_Mutation_p.G807V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	807					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AATATTGGTGGAATCTTTGTG	0.348																																																	0													272.0	275.0	274.0					11																	120852839		2203	4299	6502	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2420G>T	11.37:g.120852839G>T	ENSP00000435648:p.Gly807Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G807V	ENST00000527524.2	37	c.2420	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669369	0.88348	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.62639	0.01;0.01	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.050029	0.85682	D	0.000000	D	0.84651	0.5519	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.88014	0.2764	10	0.87932	D	0	.	19.2057	0.93729	0.0:0.0:1.0:0.0	.	807	Q16099	GRIK4_HUMAN	V	807	ENSP00000435648:G807V;ENSP00000404063:G807V	ENSP00000404063:G807V	G	+	2	0	GRIK4	120358049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.621000	0.88768	0.655000	0.94253	GGA	GRIK4	-	pfam_Iontro_glu_rcpt,prints_NMDA_rcpt		0.348	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120852839	+1	no_errors	ENST00000527524	ensembl	human	known	70_37	missense	SNP	1.000	T
GRM6	2916	genome.wustl.edu	37	5	178418889	178418889	+	Missense_Mutation	SNP	C	C	T	rs373706529		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:178418889C>T	ENST00000517717.1	-	3	738	c.700G>A	c.(700-702)Gtt>Att	p.V234I	GRM6_ENST00000231188.5_Missense_Mutation_p.V234I|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	234					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.V234I(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GAGATCTGAACGAAGGCCTCA	0.622																																																	1	Substitution - Missense(1)	endometrium(1)						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	65.0	56.0	59.0		700	5.5	1.0	5		59	0,8600		0,0,4300	no	missense	GRM6	NM_000843.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	234/878	178418889	1,13005	2203	4300	6503	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.700G>A	5.37:g.178418889C>T	ENSP00000430767:p.Val234Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.V234I	ENST00000517717.1	37	c.700	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883801	0.33255	2.27E-4	0.0	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.82984	-1.67;-1.67	5.48	5.48	0.80851	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.66287	0.2774	N	0.05177	-0.1	0.34774	D	0.734039	B	0.15141	0.012	B	0.14023	0.01	T	0.67526	-0.5648	9	0.34782	T	0.22	.	10.65	0.45642	0.0:0.9129:0.0:0.0871	.	234	O15303	GRM6_HUMAN	I	182;234;234	ENSP00000231188:V234I;ENSP00000430767:V234I	ENSP00000231188:V234I	V	-	1	0	GRM6	178351495	0.997000	0.39634	1.000000	0.80357	0.639000	0.38242	0.634000	0.24614	2.746000	0.94184	0.655000	0.94253	GTT	GRM6	-	pfam_ANF_lig-bd_rcpt		0.622	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	C			178418889	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	missense	SNP	1.000	T
GUCY1B3	2983	genome.wustl.edu	37	4	156698760	156698760	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:156698760G>A	ENST00000264424.8	+	4	345	c.263G>A	c.(262-264)cGt>cAt	p.R88H	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R20H|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R68H|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R88H|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R88H|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R20H|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R20H	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	88					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAATCTTGCGTGTCCTGGGC	0.353																																																	0													167.0	155.0	159.0					4																	156698760		1834	4082	5916	SO:0001583	missense	2983			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.263G>A	4.37:g.156698760G>A	ENSP00000264424:p.Arg88His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z426|Q86WY5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R88H	ENST00000264424.8	37	c.263	CCDS47154.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.268897	0.95429	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.44	5.44	0.79542	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.051152	0.85682	D	0.000000	T	0.61451	0.2348	L	0.53729	1.69	0.80722	D	1	D;D;D;D;P	0.76494	0.999;0.994;0.979;0.998;0.8	D;D;P;P;B	0.66847	0.912;0.947;0.663;0.817;0.243	T	0.62779	-0.6782	10	0.87932	D	0	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	68;88;20;88;88	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	H	20;88;68;20;88;88;20	ENSP00000427226:R20H;ENSP00000426786:R88H;ENSP00000426319:R68H;ENSP00000422313:R20H;ENSP00000264424:R88H;ENSP00000420842:R88H;ENSP00000425065:R20H	ENSP00000264424:R88H	R	+	2	0	GUCY1B3	156918210	1.000000	0.71417	0.964000	0.40570	0.896000	0.52359	9.382000	0.97209	2.703000	0.92315	0.655000	0.94253	CGT	GUCY1B3	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd		0.353	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY1B3	HGNC	protein_coding	OTTHUMT00000365770.2	G			156698760	+1	no_errors	ENST00000264424	ensembl	human	known	70_37	missense	SNP	1.000	A
MROH2A	339766	genome.wustl.edu	37	2	234698660	234698660	+	Splice_Site	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:234698660G>A	ENST00000389758.3	+	5	737	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	MROH2A_ENST00000480634.2_Intron			A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	221																	CAACGGCAATGGTAGGGGCTT	0.572																																																	0																																										SO:0001630	splice_region_variant	339766				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.571+1G>A	2.37:g.234698660G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V191M	ENST00000389758.3	37	c.571		2	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302328	0.60195	.	.	ENSG00000185038	ENST00000389758	T	0.64618	-0.11	3.96	3.96	0.45880	.	.	.	.	.	T	0.71804	0.3383	M	0.77103	2.36	0.29672	N	0.842411	.	.	.	.	.	.	T	0.69379	-0.5161	7	0.46703	T	0.11	.	12.2416	0.54546	0.0:0.0:1.0:0.0	.	.	.	.	M	191	ENSP00000374408:V191M	ENSP00000374408:V191M	V	+	1	0	HEATR7B1	234363399	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	4.556000	0.60775	2.162000	0.67917	0.511000	0.50034	GTG	HEATR7B1	-	superfamily_ARM-type_fold		0.572	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	G	XM_291007	Missense_Mutation	234698660	+1	no_errors	ENST00000389758	ensembl	human	novel	70_37	missense	SNP	1.000	A
HERC2P4	100289574	genome.wustl.edu	37	16	32163830	32163830	+	IGR	SNP	C	C	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:32163830C>A								RP11-1166P10.6 (67724 upstream) : HERC2P4 (17474 downstream)																							AGTTGATGTACTTGTTGATGA	0.532																																																	0																																										SO:0001628	intergenic_variant	100289574																															16.37:g.32163830C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	0	0.532					HERC2P4	HGNC			C			32163830	-1	no_errors	ENST00000563904	ensembl	human	known	70_37	rna	SNP	1.000	A
HIST2H2BE	8349	genome.wustl.edu	37	1	149857969	149857969	+	Silent	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:149857969G>A	ENST00000369155.2	-	1	263	c.222C>T	c.(220-222)atC>atT	p.I74I	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTCTCCCGCGATGCGCTCGA	0.637																																																	0													120.0	111.0	114.0					1																	149857969		2203	4297	6500	SO:0001819	synonymous_variant	8349			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.222C>T	1.37:g.149857969G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74	ENST00000369155.2	37	c.222	CCDS936.1	1																																																																																			HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.637	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	G	NM_003528		149857969	-1	no_errors	ENST00000369155	ensembl	human	known	70_37	silent	SNP	1.000	A
HLA-A	3105	genome.wustl.edu	37	6	29910398	29910398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:29910398G>A	ENST00000396634.1	+	3	409	c.68G>A	c.(67-69)tGg>tAg	p.W23*	HLA-A_ENST00000376806.5_Nonsense_Mutation_p.W23*|HLA-A_ENST00000376802.2_Nonsense_Mutation_p.W23*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.W23*			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	23					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACCCAGACCTGGGCGGGTGAG	0.736									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0													21.0	24.0	23.0					6																	29910398		2200	4292	6492	SO:0001587	stop_gained	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.68G>A	6.37:g.29910398G>A	ENSP00000379873:p.Trp23*	Somatic		WXS	Illumina HiSeq	Phase_IV	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.W23*	ENST00000396634.1	37	c.68	CCDS34373.1	6	.	.	.	.	.	.	.	.	.	.	.	36	5.746721	0.96882	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	3.72	0.729	0.18266	.	1.554790	0.04923	U	0.455350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4846	0.07615	0.2277:0.0:0.575:0.1972	.	.	.	.	X	23	.	ENSP00000348012:W23X	W	+	2	0	HLA-A	30018377	0.000000	0.05858	0.028000	0.17463	0.549000	0.35272	-0.283000	0.08433	0.032000	0.15435	0.478000	0.44815	TGG	HLA-A	-	NULL		0.736	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	G	NM_002116		29910398	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	nonsense	SNP	0.091	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424366	22424366	+	RNA	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:22424366G>T	ENST00000451497.1	+	0	931									high mobility group box 1 pseudogene 5																		CTGTTTTGTTGACATTCTGAA	0.333																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424366G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	G	NG_000897		22424366	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	1.000	T
HOXB4	3214	genome.wustl.edu	37	17	46654215	46654215	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:46654215A>C	ENST00000332503.5	-	2	2416	c.625T>G	c.(625-627)Tgg>Ggg	p.W209G	HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000498678.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000472863.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	209					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TTCTGGAACCAGATCTTGATC	0.622																																																	0													93.0	99.0	97.0					17																	46654215		2203	4300	6503	SO:0001583	missense	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.625T>G	17.37:g.46654215A>C	ENSP00000328928:p.Trp209Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NTA0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.W209G	ENST00000332503.5	37	c.625	CCDS11529.1	17	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120438	0.77323	.	.	ENSG00000182742	ENST00000332503	D	0.99822	-6.94	5.78	4.69	0.59074	Homeobox, eukaryotic (2);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96592	0.9438	10	0.87932	D	0	.	12.0724	0.53624	0.8709:0.0:0.0:0.1291	.	209	P17483	HXB4_HUMAN	G	209	ENSP00000328928:W209G	ENSP00000328928:W209G	W	-	1	0	HOXB4	44009214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.314000	0.96306	0.991000	0.38814	0.454000	0.30748	TGG	HOXB4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.622	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB4	HGNC	protein_coding	OTTHUMT00000358259.2	A			46654215	-1	no_errors	ENST00000332503	ensembl	human	known	70_37	missense	SNP	1.000	C
HSPA14	51182	genome.wustl.edu	37	10	14885843	14885843	+	Intron	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr10:14885843C>T	ENST00000378372.3	+	3	460				HSPA14_ENST00000437161.2_3'UTR	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGCTTTTCAGCTAGGCCTTGA	0.473																																																	0																																										SO:0001627	intron_variant	51182			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.221+3687C>T	10.37:g.14885843C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	NULL	p.L257	ENST00000378372.3	37	c.769	CCDS7103.1	10																																																																																			HSPA14	-	NULL		0.473	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	C	NM_016299		14885843	+1	no_errors	ENST00000309584	ensembl	human	known	70_37	silent	SNP	1.000	T
IL3RA	3563	genome.wustl.edu	37	X	1464225	1464225	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:1464225C>G	ENST00000331035.4	+	3	430	c.81C>G	c.(79-81)atC>atG	p.I27M	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	27					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACCCACCAATCACGAACCTAA	0.428																																																	0													286.0	278.0	281.0					X																	1464225		2200	4296	6496	SO:0001583	missense	3563			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.81C>G	X.37:g.1464225C>G	ENSP00000327890:p.Ile27Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.I27M	ENST00000331035.4	37	c.81	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	8.349	0.830454	0.16749	.	.	ENSG00000185291	ENST00000331035	T	0.40476	1.03	1.32	-0.991	0.10235	.	.	.	.	.	T	0.41766	0.1173	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.25328	-1.0135	9	0.44086	T	0.13	-16.7883	3.7616	0.08606	0.0:0.4485:0.0:0.5515	.	27	P26951	IL3RA_HUMAN	M	27	ENSP00000327890:I27M	ENSP00000327890:I27M	I	+	3	3	IL3RA	1424225	0.012000	0.17670	0.020000	0.16555	0.025000	0.11179	0.169000	0.16641	-0.232000	0.09811	0.172000	0.16884	ATC	IL3RA	-	NULL		0.428	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	C			1464225	+1	no_errors	ENST00000331035	ensembl	human	known	70_37	missense	SNP	0.003	G
HUWE1	10075	genome.wustl.edu	37	X	53564520	53564520	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:53564520C>T	ENST00000342160.3	-	77	12591	c.12134G>A	c.(12133-12135)cGa>cAa	p.R4045Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4045Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4045	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCCTTACAATCGATTCTTCAT	0.537																																																	0													93.0	63.0	73.0					X																	53564520		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12134G>A	X.37:g.53564520C>T	ENSP00000340648:p.Arg4045Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4045Q	ENST00000342160.3	37	c.12134	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993438	0.74703	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.76448	-1.02;-1.02	5.78	5.78	0.91487	HECT (3);	0.150503	0.44097	D	0.000487	D	0.85758	0.5771	M	0.62016	1.91	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	P;P;D	0.65684	0.769;0.867;0.937	D	0.86718	0.1940	10	0.72032	D	0.01	.	15.9981	0.80268	0.0:1.0:0.0:0.0	.	867;4045;4029	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	Q	4045	ENSP00000340648:R4045Q;ENSP00000262854:R4045Q	ENSP00000262854:R4045Q	R	-	2	0	HUWE1	53581245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.064000	0.76721	2.580000	0.87095	0.600000	0.82982	CGA	HUWE1	-	superfamily_HECT,smart_HECT,pfscan_HECT		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53564520	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T
INTS5	80789	genome.wustl.edu	37	11	62416084	62416084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:62416084G>A	ENST00000330574.2	-	2	1520	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	490					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CGTTCCAATCGTAACGTCTCT	0.602																																																	0													98.0	96.0	97.0					11																	62416084		2202	4299	6501	SO:0001587	stop_gained	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1468C>T	11.37:g.62416084G>A	ENSP00000327889:p.Arg490*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6W5|Q9C0G5	Nonsense_Mutation	SNP	NULL	p.R490*	ENST00000330574.2	37	c.1468	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611077	0.46631	.	.	ENSG00000185085	ENST00000330574	.	.	.	5.11	3.1	0.35709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.145	0.54018	0.0:0.0:0.68:0.32	.	.	.	.	X	490	.	ENSP00000327889:R490X	R	-	1	2	INTS5	62172660	1.000000	0.71417	0.956000	0.39512	0.195000	0.23768	2.642000	0.46596	1.377000	0.46286	-0.152000	0.13540	CGA	INTS5	-	NULL		0.602	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	G	NM_030628		62416084	-1	no_errors	ENST00000330574	ensembl	human	known	70_37	nonsense	SNP	0.986	A
JAKMIP1	152789	genome.wustl.edu	37	4	6037785	6037785	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:6037785G>A	ENST00000409021.3	-	19	2674	c.2225C>T	c.(2224-2226)cCg>cTg	p.P742L	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.P557L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	99					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCCGCCCCGGCTCCTGCTG	0.647																																																	0													9.0	11.0	10.0					4																	6037785		2008	4116	6124	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2225C>T	4.37:g.6037785G>A	ENSP00000386711:p.Pro742Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.P742L	ENST00000409021.3	37	c.2225	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328558	0.24167	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.29655	1.98;1.56	4.79	3.93	0.45458	.	0.342925	0.19131	U	0.121939	T	0.18676	0.0448	.	.	.	0.80722	D	1	B;P	0.35700	0.259;0.516	B;B	0.28709	0.042;0.093	T	0.04427	-1.0952	9	0.30854	T	0.27	.	7.7376	0.28823	0.0866:0.1661:0.7473:0.0	.	557;742	Q96N16-5;Q96N16-2	.;.	L	742;557	ENSP00000386711:P742L;ENSP00000387042:P557L	ENSP00000386711:P742L	P	-	2	0	JAKMIP1	6088686	1.000000	0.71417	0.330000	0.25442	0.202000	0.24057	6.043000	0.71004	0.982000	0.38575	0.436000	0.28706	CCG	JAKMIP1	-	NULL		0.647	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	G	NM_144720		6037785	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	missense	SNP	0.886	A
KCNMA1	3778	genome.wustl.edu	37	10	79396114	79396114	+	Intron	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr10:79396114C>T	ENST00000286628.8	-	1	378				KCNMA1_ENST00000404771.3_Intron|KCNMA1_ENST00000480683.1_3'UTR|KCNMA1_ENST00000481070.1_3'UTR|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000406533.3_Intron|KCNMA1_ENST00000404857.1_Intron|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000372443.1_Intron|KCNMA1_ENST00000354353.5_Intron	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCGCCAGCCTCAGTGCCGGTG	0.612																																																	0																																										SO:0001627	intron_variant	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.378+908G>A	10.37:g.79396114C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	RNA	SNP	-	NULL	ENST00000286628.8	37	NULL		10																																																																																			KCNMA1	-	-		0.612	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	C	NM_002247		79396114	-1	no_errors	ENST00000480683	ensembl	human	known	70_37	rna	SNP	0.000	T
KL	9365	genome.wustl.edu	37	13	33635286	33635286	+	Silent	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:33635286G>A	ENST00000380099.3	+	4	2078	c.2070G>A	c.(2068-2070)ccG>ccA	p.P690P	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	690	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGAATGAGCCGTATACAAGGA	0.507																																																	0													67.0	61.0	63.0					13																	33635286		2203	4300	6503	SO:0001819	synonymous_variant	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2070G>A	13.37:g.33635286G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P690	ENST00000380099.3	37	c.2070	CCDS9347.1	13																																																																																			KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.507	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	G			33635286	+1	no_errors	ENST00000380099	ensembl	human	known	70_37	silent	SNP	0.005	A
KRT17P4	339186	genome.wustl.edu	37	17	16748885	16748885	+	RNA	SNP	A	A	G	rs648417		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:16748885A>G	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CTCACCTCCGACCAGCAGCCC	0.637																																																	0																																												147228																															17.37:g.16748885A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000578037.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	0.159	-1.082813	0.01888	.	.	ENSG00000131885	ENST00000399211;ENST00000340966	.	.	.	2.35	1.34	0.21922	.	0.142647	0.32068	N	0.006625	T	0.22085	0.0532	.	.	.	.	.	.	.	.	.	.	.	.	T	0.31530	-0.9940	5	0.09590	T	0.72	.	6.2314	0.20736	0.2849:0.0:0.7151:0.0	rs648417;rs3874903;rs3883346;rs4078866;rs6587072;rs7501509	.	.	.	A	82	.	ENSP00000442538:V82A	V	-	2	0	KRT17P1	16689610	0.000000	0.05858	0.051000	0.19133	0.242000	0.25591	-0.332000	0.07904	-0.044000	0.13491	-1.160000	0.01791	GTC	KRT17P1	-	-		0.637	AC022596.2-005	KNOWN	basic	processed_transcript	KRT17P1	HGNC	pseudogene	OTTHUMT00000444295.1	A			16748885	-1	no_errors	ENST00000577449	ensembl	human	putative	70_37	rna	SNP	0.510	G
KRT16	3868	genome.wustl.edu	37	17	39768637	39768637	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr17:39768637A>C	ENST00000301653.4	-	1	368	c.304T>G	c.(304-306)Ttt>Gtt	p.F102V		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	102	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ccaccaccaaagccagcaccc	0.602																																																	0													191.0	175.0	181.0					17																	39768637		2203	4300	6503	SO:0001583	missense	3868			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.304T>G	17.37:g.39768637A>C	ENSP00000301653:p.Phe102Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.F102V	ENST00000301653.4	37	c.304	CCDS11401.1	17	.	.	.	.	.	.	.	.	.	.	A	0.424	-0.906861	0.02434	.	.	ENSG00000186832	ENST00000301653	T	0.78816	-1.21	3.78	1.49	0.22878	.	0.454593	0.16390	N	0.216511	T	0.56775	0.2008	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.30909	-0.9962	10	0.17369	T	0.5	.	1.9065	0.03278	0.5137:0.137:0.0829:0.2663	.	102	P08779	K1C16_HUMAN	V	102	ENSP00000301653:F102V	ENSP00000301653:F102V	F	-	1	0	KRT16	37022163	0.000000	0.05858	0.048000	0.18961	0.038000	0.13279	-0.236000	0.09003	0.164000	0.19529	0.379000	0.24179	TTT	KRT16	-	NULL		0.602	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT16	HGNC	protein_coding	OTTHUMT00000257408.1	A	NM_005557		39768637	-1	no_errors	ENST00000301653	ensembl	human	known	70_37	missense	SNP	0.013	C
LINC00937	389634	genome.wustl.edu	37	12	8542870	8542870	+	lincRNA	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:8542870C>T	ENST00000544461.1	-	0	1076									long intergenic non-protein coding RNA 937																		ACTTACTCCTCTGCCGTCGCC	0.736																																																	0																																												389634			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8542870C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			RP11-90D4.2	-	-		0.736	LINC00937-001	KNOWN	basic	lincRNA	LOC389634	Clone_based_vega_gene	lincRNA	OTTHUMT00000400511.1	C			8542870	-1	no_errors	ENST00000420040	ensembl	human	known	70_37	rna	SNP	0.743	T
LPIN1	23175	genome.wustl.edu	37	2	11919735	11919735	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:11919735G>A	ENST00000256720.2	+	6	906	c.813G>A	c.(811-813)atG>atA	p.M271I	LPIN1_ENST00000396098.1_Missense_Mutation_p.M313I|LPIN1_ENST00000396099.1_Missense_Mutation_p.M313I|LPIN1_ENST00000449576.2_Missense_Mutation_p.M356I|LPIN1_ENST00000425416.2_Missense_Mutation_p.M277I|LPIN1_ENST00000396097.1_Start_Codon_SNP_p.M1I	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	271					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACCCAGAAATGCTTTGGCTGT	0.483											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	68.0	69.0					2																	11919735		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.813G>A	2.37:g.11919735G>A	ENSP00000256720:p.Met271Ile	Somatic	675	WXS	Illumina HiSeq	Phase_IV	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.M356I	ENST00000256720.2	37	c.1068	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869229	0.72065	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	D;D;D;D;D;T	0.92805	-1.76;-3.11;-1.72;-1.61;-1.61;-1.48	4.85	4.85	0.62838	.	0.075212	0.85682	D	0.000000	D	0.95310	0.8478	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76071	0.977;0.987;0.971	D	0.95423	0.8509	10	0.56958	D	0.05	-43.7459	18.3706	0.90406	0.0:0.0:1.0:0.0	.	356;271;313	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	I	356;313;313;277;271;1	ENSP00000397908:M356I;ENSP00000379405:M313I;ENSP00000379406:M313I;ENSP00000401522:M277I;ENSP00000256720:M271I;ENSP00000379404:M1I	ENSP00000256720:M271I	M	+	3	0	LPIN1	11837186	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.251000	0.95483	2.402000	0.81655	0.557000	0.71058	ATG	LPIN1	-	NULL		0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	G	NM_145693		11919735	+1	no_errors	ENST00000449576	ensembl	human	known	70_37	missense	SNP	1.000	A
MAS1L	116511	genome.wustl.edu	37	6	29454755	29454755	+	Missense_Mutation	SNP	C	C	T	rs139603575	byFrequency	TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:29454755C>T	ENST00000377127.3	-	1	983	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	309					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A309T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ATAGGGTTGGCGCTGCTGTTT	0.463													C|||	2	0.000399361	0.0	0.0	5008	,	,		16948	0.0		0.002	False		,,,				2504	0.0				NSCLC(153;755 1987 3859 11251 32945)												1	Substitution - Missense(1)	ovary(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	57.0	63.0	61.0		925	-0.8	0.0	6	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MAS1L	NM_052967.1	58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	309/379	29454755	3,13003	2203	4300	6503	SO:0001583	missense	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.925G>A	6.37:g.29454755C>T	ENSP00000366331:p.Ala309Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SUN5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A309T	ENST00000377127.3	37	c.925	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	C	6.510	0.462378	0.12342	2.27E-4	2.33E-4	ENSG00000204687	ENST00000377127	T	0.37752	1.18	2.36	-0.776	0.10984	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20292	0.0488	M	0.71581	2.175	0.09310	N	1	B	0.23735	0.09	B	0.36289	0.221	T	0.47649	-0.9101	9	0.45353	T	0.12	.	6.7358	0.23409	0.0:0.625:0.0:0.375	.	309	P35410	MAS1L_HUMAN	T	309	ENSP00000366331:A309T	ENSP00000366331:A309T	A	-	1	0	MAS1L	29562734	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.981000	0.01490	-0.376000	0.07943	-1.034000	0.02401	GCC	MAS1L	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	C	NM_052967		29454755	-1	no_errors	ENST00000377127	ensembl	human	known	70_37	missense	SNP	0.001	T
KMT2C	58508	genome.wustl.edu	37	7	151962134	151962134	+	Nonsense_Mutation	SNP	G	G	T	rs146238849		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr7:151962134G>T	ENST00000262189.6	-	8	1391	c.1173C>A	c.(1171-1173)tgC>tgA	p.C391*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C391*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	391					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C391*(2)									TGCAGTTCTGGCACACTTTGC	0.408																																																	2	Substitution - Nonsense(2)	NS(2)											230.0	213.0	219.0					7																	151962134		2203	4297	6500	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1173C>A	7.37:g.151962134G>T	ENSP00000262189:p.Cys391*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C391*	ENST00000262189.6	37	c.1173	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.887843	0.98545	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.53	3.62	0.41486	.	0.000000	0.45867	U	0.000330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2395	0.54534	0.0835:0.0:0.9165:0.0	.	.	.	.	X	391	.	ENSP00000262189:C391X	C	-	3	2	MLL3	151593067	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.718000	0.74713	2.206000	0.71126	0.460000	0.39030	TGC	MLL3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151962134	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MORC1	27136	genome.wustl.edu	37	3	108688569	108688569	+	Splice_Site	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:108688569G>A	ENST00000483760.1	-	25	2531	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	MORC1_ENST00000232603.5_Splice_Site_p.L851L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGCTCCAGCTGTTTTCAT	0.363																																																	0													103.0	96.0	99.0					3																	108688569		2203	4300	6503	SO:0001630	splice_region_variant	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2488-1C>T	3.37:g.108688569G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.L851	ENST00000483760.1	37	c.2551		3																																																																																			MORC1	-	NULL		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G		Silent	108688569	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	silent	SNP	0.996	A
MRPL44	65080	genome.wustl.edu	37	2	224824505	224824508	+	Frame_Shift_Del	DEL	ACCC	ACCC	-			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	ACCC	ACCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:224824505_224824508delACCC	ENST00000258383.3	+	2	503_506	c.434_437delACCC	c.(433-438)tacccafs	p.YP145fs		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	145	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.Y145Y(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAGACGAGTACCCAGACATGCCC	0.422																																																	1	Substitution - coding silent(1)	prostate(1)																																								SO:0001589	frameshift_variant	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.434_437delACCC	2.37:g.224824505_224824508delACCC	ENSP00000258383:p.Tyr145fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53S16|Q6IA62|Q9H821	Frame_Shift_Del	DEL	superfamily_RNase_III_dom,pfscan_Ds-RNA-bd	p.Y145fs	ENST00000258383.3	37	c.434_437	CCDS2459.1	2																																																																																			MRPL44	-	superfamily_RNase_III_dom		0.422	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL44	HGNC	protein_coding	OTTHUMT00000256866.2	ACCC	NM_022915		224824508	+1	no_errors	ENST00000258383	ensembl	human	known	70_37	frame_shift_del	DEL	0.011:0.564:0.998:1.000	-
MSH3	4437	genome.wustl.edu	37	5	80071547	80071547	+	Missense_Mutation	SNP	G	G	A	rs373251342		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:80071547G>A	ENST00000265081.6	+	16	2368	c.2288G>A	c.(2287-2289)tGt>tAt	p.C763Y		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	763					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCTGTATCTTGTATACCAACT	0.294								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													64.0	67.0	66.0					5																	80071547		2203	4298	6501	SO:0001583	missense	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2288G>A	5.37:g.80071547G>A	ENSP00000265081:p.Cys763Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.C763Y	ENST00000265081.6	37	c.2288	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893399	0.17613	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89196	-2.48	5.54	4.66	0.58398	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.376475	0.33110	N	0.005268	D	0.87857	0.6283	L	0.36672	1.1	0.38814	D	0.955491	D	0.57571	0.98	P	0.54431	0.752	D	0.86823	0.2006	9	.	.	.	-9.775	11.7747	0.51979	0.0:0.3091:0.6909:0.0	.	763	P20585	MSH3_HUMAN	Y	763;754	ENSP00000265081:C763Y	.	C	+	2	0	MSH3	80107303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.243000	0.43115	2.607000	0.88179	0.585000	0.79938	TGT	MSH3	-	pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.294	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	G	NM_002439		80071547	+1	no_errors	ENST00000265081	ensembl	human	known	70_37	missense	SNP	1.000	A
MSLN	10232	genome.wustl.edu	37	16	816385	816385	+	Silent	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:816385C>T	ENST00000382862.3	+	12	1220	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	MSLN_ENST00000545450.2_Silent_p.L375L|MSLN_ENST00000563941.1_Silent_p.L375L|MSLN_ENST00000566549.1_Silent_p.L375L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	375					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGGGCTACCTCTTCCTCAAGA	0.572																																																	0													85.0	77.0	80.0					16																	816385		2189	4288	6477	SO:0001819	synonymous_variant	10232			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1125C>T	16.37:g.816385C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	pfam_Mesothelin	p.L375	ENST00000382862.3	37	c.1125	CCDS32356.1	16																																																																																			MSLN	-	pfam_Mesothelin		0.572	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	C			816385	+1	no_errors	ENST00000382862	ensembl	human	known	70_37	silent	SNP	0.984	T
MYBPC1	4604	genome.wustl.edu	37	12	102038471	102038471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:102038471C>T	ENST00000550270.1	+	10	787	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.Q276*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.Q249*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.Q244*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.Q164*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.Q251*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.Q288*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.Q237*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.Q288*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.Q263*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.Q250*|RP11-755O11.2_ENST00000552081.1_RNA|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	263	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCCTGCATATCAGGTTGACAA	0.358																																																	0													81.0	77.0	79.0					12																	102038471		2203	4300	6503	SO:0001587	stop_gained	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.787C>T	12.37:g.102038471C>T	ENSP00000449702:p.Gln263*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q288*	ENST00000550270.1	37	c.862	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.659458	0.97743	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.7	5.7	0.88788	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4511	0.94867	0.0:1.0:0.0:0.0	.	.	.	.	X	237;263;263;263;250;249;288;276;263;288;263;244;251;288;164;263	.	ENSP00000353822:Q263X	Q	+	1	0	MYBPC1	100562602	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.763000	0.68818	2.694000	0.91930	0.655000	0.94253	CAG	MYBPC1	-	pfam_Ig_I-set,smart_Ig_sub		0.358	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	C			102038471	+1	no_errors	ENST00000361466	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MYH15	22989	genome.wustl.edu	37	3	108149738	108149738	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:108149738T>A	ENST00000273353.3	-	27	3369	c.3313A>T	c.(3313-3315)Aaa>Taa	p.K1105*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1105						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTCCACTTTTGAATTCATC	0.299																																																	0													91.0	84.0	86.0					3																	108149738		1814	4079	5893	SO:0001587	stop_gained	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3313A>T	3.37:g.108149738T>A	ENSP00000273353:p.Lys1105*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.K1105*	ENST00000273353.3	37	c.3313	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	39	7.681867	0.98431	.	.	ENSG00000144821	ENST00000273353	.	.	.	5.22	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5834	0.50904	0.0:0.0737:0.0:0.9263	.	.	.	.	X	1105	.	ENSP00000273353:K1105X	K	-	1	0	MYH15	109632428	0.011000	0.17503	0.288000	0.24862	0.545000	0.35147	1.490000	0.35573	2.088000	0.63022	0.455000	0.32223	AAA	MYH15	-	pfam_Myosin_tail		0.299	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	T	XM_036988		108149738	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	nonsense	SNP	0.289	A
NCAM1	4684	genome.wustl.edu	37	11	113076287	113076287	+	Missense_Mutation	SNP	G	G	A	rs367901170		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:113076287G>A	ENST00000533760.1	+	4	634	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	NCAM1_ENST00000316851.7_Missense_Mutation_p.R120Q|NCAM1_ENST00000401611.2_Missense_Mutation_p.R129Q|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	130					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGGAGTTCCGGGAGGGGGAA	0.502																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3967		0,1,1983	107.0	107.0	107.0		390,390,390,390,390	2.8	1.0	11		107	0,8284		0,0,4142	no	missense,missense,missense,missense,missense	NCAM1	NM_181351.4,NM_001242608.1,NM_001242607.1,NM_001076682.3,NM_000615.6	43,43,43,43,43	0,1,6125	AA,AG,GG		0.0,0.0252,0.0082	benign,benign,benign,benign,benign	130/859,130/727,130/885,130/762,130/849	113076287	1,12251	1984	4142	6126	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.35G>A	11.37:g.113076287G>A	ENSP00000473281:p.Arg12Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.R120Q	ENST00000533760.1	37	c.359		11	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274800	0.59649	2.52E-4	0.0	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.66280	-0.2;-0.2	5.73	2.84	0.33178	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.308394	0.39475	N	0.001348	T	0.43077	0.1231	.	.	.	0.80722	D	1	B;B;B;B;B	0.31256	0.316;0.316;0.028;0.09;0.316	B;B;B;B;B	0.27500	0.08;0.05;0.052;0.065;0.05	T	0.26087	-1.0113	9	0.35671	T	0.21	-19.2354	3.0223	0.06079	0.3795:0.0:0.4321:0.1884	.	130;130;130;130;130	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	Q	12;129;120	ENSP00000384055:R129Q;ENSP00000318472:R120Q	ENSP00000318472:R120Q	R	+	2	0	NCAM1	112581497	0.992000	0.36948	1.000000	0.80357	0.990000	0.78478	1.375000	0.34295	0.756000	0.33013	0.655000	0.94253	CGG	NCAM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Neural_cell_adh		0.502	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	G	NM_000615		113076287	+1	no_errors	ENST00000316851	ensembl	human	known	70_37	missense	SNP	0.993	A
NEB	4703	genome.wustl.edu	37	2	152476075	152476075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:152476075G>A	ENST00000172853.10	-	69	10180	c.10033C>T	c.(10033-10035)Cag>Tag	p.Q3345*	NEB_ENST00000397345.3_Nonsense_Mutation_p.Q3588*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q3588*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q3588*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q3345*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Q3588*			P20929	NEBU_HUMAN	nebulin	3345					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCAAGGTCTGACACTTCTTG	0.473																																																	0													157.0	153.0	154.0					2																	152476075		2036	4208	6244	SO:0001587	stop_gained	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10033C>T	2.37:g.152476075G>A	ENSP00000172853:p.Gln3345*	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q3588*	ENST00000172853.10	37	c.10762		2	.	.	.	.	.	.	.	.	.	.	G	52	20.023417	0.99926	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	X	3345;3588;3588;3345	.	ENSP00000172853:Q3345X	Q	-	1	0	NEB	152184321	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.641000	0.91032	2.793000	0.96121	0.655000	0.94253	CAG	NEB	-	smart_Nebulin_35r-motif		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152476075	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NF2	4771	genome.wustl.edu	37	22	30000004	30000004	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr22:30000004C>T	ENST00000338641.4	+	1	458	c.17C>T	c.(16-18)gCt>gTt	p.A6V	NF2_ENST00000403999.3_Missense_Mutation_p.A6V|NF2_ENST00000353887.4_Missense_Mutation_p.A6V|NF2_ENST00000334961.7_Missense_Mutation_p.A6V|NF2_ENST00000361452.4_Missense_Mutation_p.A6V|NF2_ENST00000413209.2_Missense_Mutation_p.A6V|NF2_ENST00000397789.3_Missense_Mutation_p.A6V|NF2_ENST00000361166.4_Missense_Mutation_p.A6V|NF2_ENST00000347330.5_Missense_Mutation_p.A6V|NF2_ENST00000403435.1_Missense_Mutation_p.A6V|NF2_ENST00000361676.4_Missense_Mutation_p.A6V	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	6					actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(2)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGGGCCATCGCTTCCCGCATG	0.647			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	2	Unknown(2)	lung(1)|soft_tissue(1)											27.0	19.0	22.0					22																	30000004		2201	4299	6500	SO:0001583	missense	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.17C>T	22.37:g.30000004C>T	ENSP00000344666:p.Ala6Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.A6V	ENST00000338641.4	37	c.17	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.293802	0.95546	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D;D	0.94417	-2.06;-3.42;-1.85;-1.88;-1.9;-1.8;-1.72;-1.72;-1.8;-1.82;-1.8	5.16	5.16	0.70880	.	0.115718	0.64402	D	0.000020	D	0.95424	0.8514	L	0.36672	1.1	0.29980	N	0.81783	B;B;B;B;D;B	0.60575	0.082;0.204;0.104;0.204;0.988;0.167	B;B;B;B;D;B	0.70935	0.052;0.071;0.023;0.044;0.971;0.032	D	0.92337	0.5878	9	.	.	.	.	18.2478	0.89992	0.0:1.0:0.0:0.0	.	6;6;6;6;6;6	P35240-9;P35240-5;P35240;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.	V	6	ENSP00000409921:A6V;ENSP00000335160:A6V;ENSP00000344666:A6V;ENSP00000384029:A6V;ENSP00000354897:A6V;ENSP00000384797:A6V;ENSP00000335652:A6V;ENSP00000340626:A6V;ENSP00000380891:A6V;ENSP00000355183:A6V;ENSP00000354529:A6V	.	A	+	2	0	NF2	28330004	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.555000	0.67301	2.415000	0.81967	0.555000	0.69702	GCT	NF2	-	NULL		0.647	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	C	NM_000268		30000004	+1	no_errors	ENST00000338641	ensembl	human	known	70_37	missense	SNP	1.000	T
OCRL	4952	genome.wustl.edu	37	X	128695163	128695163	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:128695163G>A	ENST00000371113.4	+	10	997	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	OCRL_ENST00000357121.5_Missense_Mutation_p.E278K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	278	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.E278Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGATTCCAAGAACTGGACTT	0.398																																																	1	Substitution - Missense(1)	breast(1)											152.0	147.0	149.0					X																	128695163		2203	4300	6503	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.832G>A	X.37:g.128695163G>A	ENSP00000360154:p.Glu278Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E278K	ENST00000371113.4	37	c.832	CCDS35393.1	X	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000567	0.93227	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.98732	-5.1;-5.1	5.44	5.44	0.79542	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.97196	0.9861	10	0.87932	D	0	.	17.3438	0.87305	0.0:0.0:1.0:0.0	.	278;278	Q01968-2;Q01968	.;OCRL_HUMAN	K	278	ENSP00000360154:E278K;ENSP00000349635:E278K	ENSP00000349635:E278K	E	+	1	0	OCRL	128522844	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.476000	0.97823	2.395000	0.81488	0.600000	0.82982	GAA	OCRL	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.398	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	G	NM_000276		128695163	+1	no_errors	ENST00000371113	ensembl	human	known	70_37	missense	SNP	1.000	A
OR8K5	219453	genome.wustl.edu	37	11	55927137	55927137	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:55927137C>T	ENST00000313447.1	-	1	656	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACAAAATCAACATGTAGGACA	0.383																																																	0													69.0	68.0	68.0					11																	55927137		2201	4296	6497	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.657G>A	11.37:g.55927137C>T	ENSP00000323853:p.Met219Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M219I	ENST00000313447.1	37	c.657	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	C	0.636	-0.815164	0.02776	.	.	ENSG00000181752	ENST00000313447	T	0.00036	8.86	4.11	-8.06	0.01102	GPCR, rhodopsin-like superfamily (1);	0.945641	0.08856	N	0.883717	T	0.00039	0.0001	N	0.00793	-1.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14755	-1.0461	10	0.09843	T	0.71	.	2.2734	0.04096	0.2215:0.1547:0.4315:0.1922	.	219	Q8NH50	OR8K5_HUMAN	I	219	ENSP00000323853:M219I	ENSP00000323853:M219I	M	-	3	0	OR8K5	55683713	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-6.795000	0.00053	-1.107000	0.03004	0.567000	0.79289	ATG	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55927137	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	missense	SNP	0.000	T
OR4D9	390199	genome.wustl.edu	37	11	59282804	59282804	+	Missense_Mutation	SNP	G	G	A	rs539665433		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:59282804G>A	ENST00000329328.3	+	1	419	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AGTAGGGGGCGATGCACAGGC	0.542																																																	0													76.0	75.0	75.0					11																	59282804		2201	4295	6496	SO:0001583	missense	390199			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.419G>A	11.37:g.59282804G>A	ENSP00000328563:p.Arg140Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFF3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R140Q	ENST00000329328.3	37	c.419	CCDS31564.1	11	.	.	.	.	.	.	.	.	.	.	G	5.342	0.248425	0.10130	.	.	ENSG00000172742	ENST00000329328	T	0.40476	1.03	4.15	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.500950	0.14508	U	0.315309	T	0.36690	0.0976	M	0.70275	2.135	0.09310	N	1	B	0.25772	0.134	B	0.22152	0.038	T	0.39683	-0.9602	10	0.59425	D	0.04	-3.6226	2.6723	0.05070	0.106:0.1829:0.5227:0.1884	.	140	Q8NGE8	OR4D9_HUMAN	Q	140	ENSP00000328563:R140Q	ENSP00000328563:R140Q	R	+	2	0	OR4D9	59039380	0.000000	0.05858	0.015000	0.15790	0.005000	0.04900	-0.375000	0.07475	1.997000	0.58415	0.557000	0.71058	CGA	OR4D9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.542	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	HGNC	protein_coding	OTTHUMT00000394237.1	G	NM_001004711		59282804	+1	no_errors	ENST00000329328	ensembl	human	known	70_37	missense	SNP	0.001	A
OTOA	146183	genome.wustl.edu	37	16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	rs144912852		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr16:21689852C>T	ENST00000286149.4	+	1	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	OTOA_ENST00000388958.3_Missense_Mutation_p.T6M			Q7RTW8	OTOAN_HUMAN	otoancorin	6					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373																																																	0								C	MET/THR	1,4397	2.1+/-5.4	0,1,2198	109.0	94.0	99.0		17	-1.0	0.0	16	dbSNP_134	99	0,8600		0,0,4300	no	missense	OTOA	NM_144672.3	81	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	6/1140	21689852	1,12997	2199	4300	6499	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.17C>T	16.37:g.21689852C>T	ENSP00000286149:p.Thr6Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.T6M	ENST00000286149.4	37	c.17		16	.	.	.	.	.	.	.	.	.	.	C	7.347	0.622176	0.14193	2.27E-4	0.0	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.64085	-0.08;-0.08	5.77	-1.03	0.10102	.	0.513347	0.20429	N	0.092515	T	0.36386	0.0965	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.14023	0.01	T	0.20739	-1.0266	10	0.56958	D	0.05	-0.399	9.9341	0.41541	0.0:0.1487:0.5597:0.2916	.	6	E9PF51	.	M	6	ENSP00000373610:T6M;ENSP00000286149:T6M	ENSP00000286149:T6M	T	+	2	0	OTOA	21597353	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.319000	0.19522	-0.386000	0.07821	-1.595000	0.00837	ACG	OTOA	-	NULL		0.373	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	C			21689852	+1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	0.000	T
PALM	5064	genome.wustl.edu	37	19	726146	726146	+	Missense_Mutation	SNP	C	C	T	rs372771354		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:726146C>T	ENST00000338448.5	+	2	60	c.14C>T	c.(13-15)gCg>gTg	p.A5V	PALM_ENST00000264560.7_Missense_Mutation_p.A5V	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	5					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		AGGGTCCTGGCGGCAGAGACC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16466	0.0		0.0	False		,,,				2504	0.001																0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	74.0	70.0	71.0		14,14	-4.3	0.1	19		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PALM	NM_002579.2,NM_001040134.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	5/388,5/344	726146	1,13005	2203	4300	6503	SO:0001583	missense	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.14C>T	19.37:g.726146C>T	ENSP00000341911:p.Ala5Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	pfam_Paralemmin	p.A5V	ENST00000338448.5	37	c.14	CCDS32857.1	19	.	.	.	.	.	.	.	.	.	.	C	0.721	-0.783377	0.02907	0.0	1.16E-4	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.28666	1.99;1.6	2.58	-4.26	0.03755	.	1.350310	0.05128	N	0.491996	T	0.14141	0.0342	N	0.08118	0	0.09310	N	1	B;B;B	0.17667	0.023;0.001;0.001	B;B;B	0.10450	0.005;0.001;0.001	T	0.21655	-1.0239	10	0.39692	T	0.17	-17.2441	5.442	0.16515	0.0:0.3941:0.147:0.4589	.	5;5;5	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	V	5	ENSP00000341911:A5V;ENSP00000264560:A5V	ENSP00000264560:A5V	A	+	2	0	PALM	677146	0.000000	0.05858	0.050000	0.19076	0.536000	0.34869	-2.495000	0.00971	-1.415000	0.02022	-1.193000	0.01689	GCG	PALM	-	NULL		0.657	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	C	NM_002579		726146	+1	no_errors	ENST00000338448	ensembl	human	known	70_37	missense	SNP	0.012	T
PARP9	83666	genome.wustl.edu	37	3	122247475	122247475	+	Silent	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:122247475G>A	ENST00000360356.2	-	11	2528	c.2301C>T	c.(2299-2301)ctC>ctT	p.L767L	PARP9_ENST00000471785.1_Silent_p.L732L|PARP9_ENST00000477522.2_Silent_p.L732L|PARP9_ENST00000492382.1_Silent_p.L312L	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	767	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AGAAGCCTGTGAGTACTTCAG	0.468																																																	0													112.0	110.0	111.0					3																	122247475		2203	4300	6503	SO:0001819	synonymous_variant	83666			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2301C>T	3.37:g.122247475G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.L767	ENST00000360356.2	37	c.2301	CCDS3014.1	3																																																																																			PARP9	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.468	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	G	NM_031458		122247475	-1	no_errors	ENST00000360356	ensembl	human	known	70_37	silent	SNP	0.972	A
PCDHA9	9752	genome.wustl.edu	37	5	140230183	140230183	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:140230183C>G	ENST00000532602.1	+	1	3136	c.2103C>G	c.(2101-2103)atC>atG	p.I701M	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.I701M|PCDHA6_ENST00000527624.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	701					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.667																																					Melanoma(55;1800 1972 14909)												0													80.0	73.0	75.0					5																	140230183		2196	4273	6469	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2103C>G	5.37:g.140230183C>G	ENSP00000436042:p.Ile701Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I701M	ENST00000532602.1	37	c.2103	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745085	0.49151	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.57752	0.44;0.38	4.3	3.36	0.38483	.	0.000000	0.31989	U	0.006746	T	0.74764	0.3759	H	0.94658	3.565	0.25180	N	0.990218	D;D	0.76494	0.999;0.999	D;D	0.83275	0.937;0.996	T	0.66320	-0.5953	10	0.87932	D	0	.	5.1875	0.15191	0.1466:0.6275:0.1425:0.0834	.	701;701	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	701	ENSP00000436042:I701M;ENSP00000367362:I701M	ENSP00000367362:I701M	I	+	3	3	PCDHA9	140210367	0.049000	0.20398	0.998000	0.56505	0.755000	0.42902	-0.107000	0.10873	2.070000	0.61991	0.491000	0.48974	ATC	PCDHA9	-	NULL		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	C	NM_031857		140230183	+1	no_errors	ENST00000532602	ensembl	human	known	70_37	missense	SNP	0.988	G
PCDHB14	56122	genome.wustl.edu	37	5	140603943	140603943	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:140603943G>A	ENST00000239449.4	+	1	866	c.866G>A	c.(865-867)cGt>cAt	p.R289H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R136H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGATATTCGTAAAACATTT	0.378																																					Ovarian(141;50 1831 27899 33809 37648)												0													43.0	47.0	45.0					5																	140603943		2201	4300	6501	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.866G>A	5.37:g.140603943G>A	ENSP00000239449:p.Arg289His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R289H	ENST00000239449.4	37	c.866	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	9.215	1.031793	0.19590	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52526	0.66;0.66	4.75	3.88	0.44766	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45216	0.1331	M	0.77712	2.385	0.09310	N	1	B	0.23806	0.091	B	0.16289	0.015	T	0.38520	-0.9657	9	0.33940	T	0.23	.	6.3613	0.21431	0.095:0.0:0.7243:0.1807	.	289	Q9Y5E9	PCDBE_HUMAN	H	136;289	ENSP00000444518:R136H;ENSP00000239449:R289H	ENSP00000239449:R289H	R	+	2	0	PCDHB14	140584127	0.000000	0.05858	0.081000	0.20488	0.892000	0.51952	-0.478000	0.06575	1.131000	0.42111	0.655000	0.94253	CGT	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	G	NM_018934		140603943	+1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.001	A
PDE4DIP	9659	genome.wustl.edu	37	1	144918884	144918884	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:144918884T>G	ENST00000369354.3	-	10	1491	c.1302A>C	c.(1300-1302)caA>caC	p.Q434H	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q597H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	434					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGGATGTTTTGTTCCTGGG	0.433			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													467.0	489.0	482.0					1																	144918884		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1302A>C	1.37:g.144918884T>G	ENSP00000358360:p.Gln434His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q434H	ENST00000369354.3	37	c.1302	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	t	18.56	3.650165	0.67472	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.66099	4.54;4.63;4.63;4.64;4.64;3.64;3.64;2.62;2.62;-0.19	5.64	0.836	0.18891	.	.	.	.	.	T	0.63651	0.2529	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.999;0.961;0.999;0.97;0.972	T	0.64292	-0.6442	9	0.72032	D	0.01	.	7.7814	0.29066	0.0:0.6271:0.1645:0.2084	.	597;434;597;500;434	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	H	500;434;434;597;571;571;434;434;597;597;221	ENSP00000327209:Q500H;ENSP00000358360:Q434H;ENSP00000358363:Q434H;ENSP00000435654:Q571H;ENSP00000358366:Q571H;ENSP00000358357:Q434H;ENSP00000358355:Q434H;ENSP00000316434:Q597H;ENSP00000433392:Q597H;ENSP00000436791:Q221H	ENSP00000327209:Q500H	Q	-	3	2	PDE4DIP	143630241	0.107000	0.21998	0.943000	0.38184	0.949000	0.60115	0.229000	0.17833	-0.175000	0.10725	-0.266000	0.10368	CAA	PDE4DIP	-	NULL		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	T	NM_022359		144918884	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.891	G
PIK3CA	5290	genome.wustl.edu	37	3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:178916854G>A	ENST00000263967.3	+	2	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	81	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E81K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	8	Substitution - Missense(8)	endometrium(4)|large_intestine(3)|breast(1)											107.0	101.0	103.0					3																	178916854		1820	4081	5901	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.241G>A	3.37:g.178916854G>A	ENSP00000263967:p.Glu81Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E81K	ENST00000263967.3	37	c.241	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983574	0.93044	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.77620	-1.11;-1.11	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89493	0.3758	9	.	.	.	-5.0909	19.2635	0.93977	0.0:0.0:1.0:0.0	.	81	P42336	PK3CA_HUMAN	K	81	ENSP00000263967:E81K;ENSP00000417479:E81K	.	E	+	1	0	PIK3CA	180399548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	GAA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178916854	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PITPNM2	57605	genome.wustl.edu	37	12	123471369	123471369	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:123471369G>T	ENST00000542749.1	-	22	3484	c.3421C>A	c.(3421-3423)Cag>Aag	p.Q1141K	PITPNM2_ENST00000320201.4_Missense_Mutation_p.Q1141K|PITPNM2_ENST00000392428.1_Missense_Mutation_p.Q862K|PITPNM2_ENST00000280562.5_Missense_Mutation_p.Q1135K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1141					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCCAGGTCCTGCCAGTGCCTG	0.662																																																	0													42.0	39.0	40.0					12																	123471369		2203	4298	6501	SO:0001583	missense	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3421C>A	12.37:g.123471369G>T	ENSP00000437611:p.Gln1141Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.Q1141K	ENST00000542749.1	37	c.3421	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494795	0.85069	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.02	5.02	0.67125	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.64402	D	0.000001	D	0.87966	0.6311	M	0.84433	2.695	0.80722	D	1	D;D	0.65815	0.984;0.995	P;D	0.78314	0.888;0.991	D	0.89862	0.4017	10	0.87932	D	0	-30.5919	18.709	0.91649	0.0:0.0:1.0:0.0	.	1135;1141	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	K	1135;1141;862;1141	ENSP00000280562:Q1135K;ENSP00000322218:Q1141K;ENSP00000376223:Q862K;ENSP00000437611:Q1141K	ENSP00000280562:Q1135K	Q	-	1	0	PITPNM2	122037322	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.845000	0.99498	2.490000	0.84030	0.561000	0.74099	CAG	PITPNM2	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.662	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	G	NM_020845		123471369	-1	no_errors	ENST00000320201	ensembl	human	known	70_37	missense	SNP	1.000	T
PKHD1	5314	genome.wustl.edu	37	6	51921520	51921520	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:51921520G>T	ENST00000371117.3	-	18	1944	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L557I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	557					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCCGGAGAAGGATGTTAGAC	0.388																																																	0													134.0	141.0	138.0					6																	51921520		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1669C>A	6.37:g.51921520G>T	ENSP00000360158:p.Leu557Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L557I	ENST00000371117.3	37	c.1669	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	11.76	1.736036	0.30774	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.34;-2.34	5.4	2.55	0.30701	.	0.000000	0.53938	D	0.000060	D	0.85504	0.5712	M	0.70275	2.135	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.94	T	0.76269	-0.3021	10	0.22706	T	0.39	.	7.1277	0.25482	0.3866:0.0:0.6134:0.0	.	557;557	P08F94-2;P08F94	.;PKHD1_HUMAN	I	557	ENSP00000360158:L557I;ENSP00000341097:L557I	ENSP00000341097:L557I	L	-	1	0	PKHD1	52029479	0.535000	0.26370	0.002000	0.10522	0.169000	0.22640	1.192000	0.32150	0.219000	0.20840	0.462000	0.41574	CTT	PKHD1	-	NULL		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51921520	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.006	T
PLCXD3	345557	genome.wustl.edu	37	5	41382227	41382227	+	Silent	SNP	G	G	A	rs534972623		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:41382227G>A	ENST00000377801.3	-	2	587	c.513C>T	c.(511-513)tgC>tgT	p.C171C	PLCXD3_ENST00000328457.3_Silent_p.C171C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	171	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAATCGCTGGGCACATTTTAT	0.433																																																	0													101.0	102.0	102.0					5																	41382227		2203	4300	6503	SO:0001819	synonymous_variant	345557				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.513C>T	5.37:g.41382227G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL04	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.C171	ENST00000377801.3	37	c.513	CCDS34150.1	5																																																																																			PLCXD3	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	G	XM_293875		41382227	-1	no_errors	ENST00000328457	ensembl	human	known	70_37	silent	SNP	1.000	A
PLEKHG5	57449	genome.wustl.edu	37	1	6537661	6537661	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:6537661C>T	ENST00000400915.3	-	3	205	c.139G>A	c.(139-141)Gag>Aag	p.E47K	PLEKHG5_ENST00000400913.1_5'UTR|PLEKHG5_ENST00000377728.3_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E68K|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E68K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E28K|PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E60K|PLEKHG5_ENST00000340850.5_5'UTR|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E70K|PLEKHG5_ENST00000377737.2_5'UTR	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	47					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCACAGGCCTCGCAGAGGTTG	0.642																																																	0													74.0	75.0	75.0					1																	6537661		2203	4300	6503	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.139G>A	1.37:g.6537661C>T	ENSP00000383706:p.Glu47Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E70K	ENST00000400915.3	37	c.208	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.205270	0.95033	.	.	ENSG00000171680	ENST00000377748;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000535355;ENST00000537245	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	4.52	4.52	0.55395	.	0.131174	0.49916	D	0.000121	T	0.71500	0.3347	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;D;D	0.69654	0.965;0.814;0.965;0.924	T	0.74278	-0.3717	10	0.56958	D	0.05	-35.3806	16.1884	0.81971	0.0:1.0:0.0:0.0	.	60;68;68;47	F5GZ21;Q5SY18;O94827-2;O94827	.;.;.;PKHG5_HUMAN	K	68;47;68;28;60;70	ENSP00000366977:E68K;ENSP00000383706:E47K;ENSP00000366969:E68K;ENSP00000366961:E28K;ENSP00000441445:E60K;ENSP00000439625:E70K	ENSP00000366961:E28K	E	-	1	0	PLEKHG5	6460248	0.998000	0.40836	0.990000	0.47175	0.994000	0.84299	3.940000	0.56599	2.227000	0.72691	0.407000	0.27541	GAG	PLEKHG5	-	NULL		0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6537661	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHG6	55200	genome.wustl.edu	37	12	6422899	6422899	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:6422899G>C	ENST00000396988.3	+	3	473	c.243G>C	c.(241-243)aaG>aaC	p.K81N	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.K81N|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.K49N|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.K81N	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	81						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCCCGAGAAGAGGCACGGGG	0.647																																																	0													42.0	50.0	47.0					12																	6422899		2203	4300	6503	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.243G>C	12.37:g.6422899G>C	ENSP00000380185:p.Lys81Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K81N	ENST00000396988.3	37	c.243	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370772	0.24771	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.67171	-0.15;-0.05;-0.15;-0.25	4.52	1.46	0.22682	.	0.120487	0.37483	N	0.002077	T	0.59824	0.2222	M	0.70595	2.14	0.58432	D	0.999997	B;B;P	0.40050	0.037;0.037;0.7	B;B;B	0.39805	0.023;0.013;0.31	T	0.55003	-0.8208	10	0.40728	T	0.16	-6.0916	5.4121	0.16354	0.3736:0.0:0.6264:0.0	.	49;81;81	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	N	81;81;81;49	ENSP00000011684:K81N;ENSP00000442836:K81N;ENSP00000380185:K81N;ENSP00000393194:K49N	ENSP00000011684:K81N	K	+	3	2	PLEKHG6	6293160	0.100000	0.21855	0.869000	0.34112	0.231000	0.25187	0.125000	0.15749	0.545000	0.28902	0.462000	0.41574	AAG	PLEKHG6	-	NULL		0.647	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	G	NM_018173		6422899	+1	no_errors	ENST00000011684	ensembl	human	known	70_37	missense	SNP	0.905	C
POLRMT	5442	genome.wustl.edu	37	19	621725	621725	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:621725G>A	ENST00000588649.2	-	10	2057	c.1973C>T	c.(1972-1974)cCg>cTg	p.P658L	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	658					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCAGAGTGCGGCGATGTCCA	0.687																																																	0													20.0	23.0	22.0					19																	621725		2197	4300	6497	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1973C>T	19.37:g.621725G>A	ENSP00000465759:p.Pro658Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.P673L	ENST00000588649.2	37	c.2018	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	5.157	0.214500	0.09810	.	.	ENSG00000099821	ENST00000215591	T	0.44881	0.91	4.62	3.57	0.40892	.	0.192535	0.44902	N	0.000405	T	0.32585	0.0834	L	0.49350	1.555	0.34672	D	0.723811	B	0.22003	0.063	B	0.10450	0.005	T	0.35624	-0.9781	10	0.11485	T	0.65	-12.3766	11.0017	0.47609	0.0934:0.0:0.9066:0.0	.	658	O00411	RPOM_HUMAN	L	658	ENSP00000215591:P658L	ENSP00000215591:P658L	P	-	2	0	POLRMT	572725	1.000000	0.71417	0.008000	0.14137	0.013000	0.08279	3.916000	0.56416	1.136000	0.42199	0.455000	0.32223	CCG	POLRMT	-	NULL		0.687	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	G	NM_005035		621725	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	0.298	A
PRSS55	203074	genome.wustl.edu	37	8	10396148	10396148	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr8:10396148G>A	ENST00000328655.3	+	5	944	c.904G>A	c.(904-906)Gag>Aag	p.E302K	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	302						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GACCCAGCTAGAGGGCAGGCC	0.542																																																	0													106.0	113.0	111.0					8																	10396148		2203	4300	6503	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.904G>A	8.37:g.10396148G>A	ENSP00000333003:p.Glu302Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E5RJX5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E302K	ENST00000328655.3	37	c.904	CCDS5976.1	8	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043061	0.36085	.	.	ENSG00000184647	ENST00000328655	D	0.88586	-2.4	4.2	2.19	0.27852	.	0.230734	0.22134	N	0.064145	T	0.80618	0.4657	L	0.32530	0.975	0.37822	D	0.92841	D	0.53151	0.958	B	0.42386	0.386	T	0.78971	-0.1993	10	0.45353	T	0.12	.	6.185	0.20491	0.0:0.2377:0.561:0.2014	.	302	Q6UWB4	PRS55_HUMAN	K	302	ENSP00000333003:E302K	ENSP00000333003:E302K	E	+	1	0	PRSS55	10433558	0.965000	0.33210	0.350000	0.25708	0.025000	0.11179	1.659000	0.37387	1.072000	0.40860	0.655000	0.94253	GAG	PRSS55	-	NULL		0.542	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	G	NM_198464		10396148	+1	no_errors	ENST00000328655	ensembl	human	known	70_37	missense	SNP	0.341	A
PTGER4	5734	genome.wustl.edu	37	5	40691969	40691969	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:40691969C>T	ENST00000302472.3	+	3	1980	c.956C>T	c.(955-957)tCt>tTt	p.S319F		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	319					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CGAATTGCTTCTGTGAACCCC	0.458																																																	0													112.0	115.0	114.0					5																	40691969		2203	4300	6503	SO:0001583	missense	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.956C>T	5.37:g.40691969C>T	ENSP00000302846:p.Ser319Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S319F	ENST00000302472.3	37	c.956	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653549	0.67472	.	.	ENSG00000171522	ENST00000302472	T	0.71817	-0.6	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.184196	0.49305	D	0.000141	T	0.81678	0.4873	M	0.90870	3.155	0.80722	D	1	B	0.25772	0.134	B	0.35727	0.209	T	0.80867	-0.1190	10	0.48119	T	0.1	-1.0075	19.5183	0.95174	0.0:1.0:0.0:0.0	.	319	P35408	PE2R4_HUMAN	F	319	ENSP00000302846:S319F	ENSP00000302846:S319F	S	+	2	0	PTGER4	40727726	0.998000	0.40836	0.929000	0.37066	0.987000	0.75469	7.487000	0.81328	2.613000	0.88420	0.467000	0.42956	TCT	PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40691969	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	missense	SNP	1.000	T
RALGAPB	57148	genome.wustl.edu	37	20	37153553	37153553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr20:37153553C>A	ENST00000262879.6	+	11	2036	c.1752C>A	c.(1750-1752)taC>taA	p.Y584*	RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.Y362*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.Y584*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.Y584*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	584					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGTTCCTTACTTTATTTCAG	0.418																																																	0													297.0	273.0	282.0					20																	37153553		2203	4300	6503	SO:0001587	stop_gained	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1752C>A	20.37:g.37153553C>A	ENSP00000262879:p.Tyr584*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.Y584*	ENST00000262879.6	37	c.1752	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	44	11.155577	0.99524	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.3379	0.55077	0.0:0.8786:0.0:0.1214	.	.	.	.	X	584;584;584;362;584;412	.	ENSP00000262879:Y584X	Y	+	3	2	RALGAPB	36586967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.154000	0.50693	2.587000	0.87381	0.561000	0.74099	TAC	RALGAPB	-	superfamily_ARM-type_fold		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	C	NM_020336		37153553	+1	no_errors	ENST00000262879	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RALGAPB	57148	genome.wustl.edu	37	20	37154152	37154152	+	Silent	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr20:37154152C>G	ENST00000262879.6	+	12	2177	c.1893C>G	c.(1891-1893)gtC>gtG	p.V631V	RALGAPB_ENST00000397038.1_Silent_p.V409V|RALGAPB_ENST00000397042.3_Silent_p.V631V|RALGAPB_ENST00000397040.1_Silent_p.V631V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	631					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGGCACAGTCAAATCTGAGG	0.318																																																	0													121.0	122.0	122.0					20																	37154152		2203	4300	6503	SO:0001819	synonymous_variant	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1893C>G	20.37:g.37154152C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.V631	ENST00000262879.6	37	c.1893	CCDS13305.1	20																																																																																			RALGAPB	-	superfamily_ARM-type_fold		0.318	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	C	NM_020336		37154152	+1	no_errors	ENST00000262879	ensembl	human	known	70_37	silent	SNP	1.000	G
RB1	5925	genome.wustl.edu	37	13	49047512	49047512	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:49047512G>T	ENST00000267163.4	+	24	2644	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	836	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R830fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGTATCAATTGGTGAATCATT	0.259		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	27	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)											105.0	112.0	109.0					13																	49047512		2201	4293	6494	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2506G>T	13.37:g.49047512G>T	ENSP00000267163:p.Gly836Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.G836C	ENST00000267163.4	37	c.2506	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437830	0.83885	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88124	-2.34	5.72	5.72	0.89469	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92179	0.7520	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92533	0.6035	10	0.87932	D	0	.	18.069	0.89399	0.0:0.0:1.0:0.0	.	836	P06400	RB_HUMAN	C	815;836	ENSP00000267163:G836C	ENSP00000267163:G836C	G	+	1	0	RB1	47945513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.650000	0.91073	2.700000	0.92200	0.563000	0.77884	GGT	RB1	-	pfam_Rb_C		0.259	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			49047512	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	49050678	49050678	+	Intron	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:49050678G>A	ENST00000267163.4	+	25	2658				RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGATTTTTAGATTTTTCATA	0.348		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001627	intron_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2521-159G>A	13.37:g.49050678G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	RNA	SNP	-	NULL	ENST00000267163.4	37	NULL	CCDS31973.1	13																																																																																			RB1	-	-		0.348	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			49050678	+1	no_errors	ENST00000484879	ensembl	human	known	70_37	rna	SNP	0.001	A
RB1	5925	genome.wustl.edu	37	13	49050707	49050707	+	Intron	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr13:49050707G>A	ENST00000267163.4	+	25	2658				RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGGTCCAATGAAGCAGAAAA	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001627	intron_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2521-130G>A	13.37:g.49050707G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	RNA	SNP	-	NULL	ENST00000267163.4	37	NULL	CCDS31973.1	13																																																																																			RB1	-	-		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			49050707	+1	no_errors	ENST00000484879	ensembl	human	known	70_37	rna	SNP	0.045	A
RBM15	64783	genome.wustl.edu	37	1	110882167	110882167	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:110882167G>A	ENST00000369784.3	+	1	1040	c.140G>A	c.(139-141)gGa>gAa	p.G47E	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.G47E|RBM15_ENST00000487146.2_Missense_Mutation_p.G47E	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	47					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAATGAAGGGAAAAGAGCGC	0.652			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													30.0	33.0	32.0					1																	110882167		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.140G>A	1.37:g.110882167G>A	ENSP00000358799:p.Gly47Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.G47E	ENST00000369784.3	37	c.140	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677810	0.88445	.	.	ENSG00000162775	ENST00000369784	T	0.18016	2.24	5.3	5.3	0.74995	.	0.000000	0.44688	D	0.000421	T	0.25680	0.0625	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.02385	-1.1167	10	0.87932	D	0	-8.9321	18.7341	0.91748	0.0:0.0:1.0:0.0	.	47;47	Q96T37-3;Q96T37	.;RBM15_HUMAN	E	47	ENSP00000358799:G47E	ENSP00000358799:G47E	G	+	2	0	RBM15	110683690	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	8.718000	0.91430	2.759000	0.94783	0.650000	0.86243	GGA	RBM15	-	NULL		0.652	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	G	NM_022768		110882167	+1	no_errors	ENST00000369784	ensembl	human	known	70_37	missense	SNP	1.000	A
SCN5A	6331	genome.wustl.edu	37	3	38627473	38627473	+	Silent	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:38627473G>A	ENST00000333535.4	-	16	2645	c.2496C>T	c.(2494-2496)atC>atT	p.I832I	SCN5A_ENST00000451551.2_Silent_p.I832I|SCN5A_ENST00000449557.2_Silent_p.I832I|SCN5A_ENST00000413689.1_Silent_p.I832I|SCN5A_ENST00000423572.2_Silent_p.I832I|SCN5A_ENST00000414099.2_Silent_p.I832I|SCN5A_ENST00000455624.2_Silent_p.I832I|SCN5A_ENST00000443581.1_Silent_p.I832I|SCN5A_ENST00000425664.1_Silent_p.I832I|SCN5A_ENST00000450102.2_Silent_p.I832I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	832					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)			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)	CTGAGTTCCCGATGATCTTGA	0.557																																																	0													110.0	109.0	109.0					3																	38627473		2203	4300	6503	SO:0001819	synonymous_variant	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.2496C>T	3.37:g.38627473G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.I832	ENST00000333535.4	37	c.2496	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	G	NM_198056		38627473	-1	no_errors	ENST00000333535	ensembl	human	known	70_37	silent	SNP	1.000	A
SCN7A	6332	genome.wustl.edu	37	2	167262620	167262620	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:167262620T>G	ENST00000409855.1	-	25	4645	c.4519A>C	c.(4519-4521)Aac>Cac	p.N1507H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1507					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGGTCTTGTTTTTCTTCTTA	0.328																																																	0													30.0	30.0	30.0					2																	167262620		1816	4095	5911	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4519A>C	2.37:g.167262620T>G	ENSP00000386796:p.Asn1507His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.N1507H	ENST00000409855.1	37	c.4519	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	5.018	0.189028	0.09547	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	T	0.09350	2.99	5.07	-2.29	0.06805	.	1.851840	0.02403	N	0.080836	T	0.07728	0.0194	N	0.11427	0.14	0.09310	N	1	P	0.48162	0.906	B	0.41571	0.36	T	0.41858	-0.9485	10	0.72032	D	0.01	.	10.9549	0.47351	0.0:0.4084:0.0:0.5916	.	1507	Q01118	SCN7A_HUMAN	H	1507	ENSP00000386796:N1507H	ENSP00000259060:N1507H	N	-	1	0	SCN7A	166970866	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	-0.730000	0.04915	-0.345000	0.08325	-0.248000	0.11899	AAC	SCN7A	-	NULL		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	T			167262620	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	missense	SNP	0.000	G
SEC14L2	23541	genome.wustl.edu	37	22	30805418	30805418	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr22:30805418C>T	ENST00000312932.9	+	7	783	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.L9F|SEC14L2_ENST00000402592.3_Missense_Mutation_p.L92F|SEC14L2_ENST00000405717.3_Missense_Mutation_p.L175F|SEC14L2_ENST00000403484.1_Missense_Mutation_p.L101F	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TCCACAGTTTCTCTGCATGTT	0.458																																																	0													166.0	160.0	162.0					22																	30805418		2203	4300	6503	SO:0001583	missense	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.523C>T	22.37:g.30805418C>T	ENSP00000316203:p.Leu175Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L175F	ENST00000312932.9	37	c.523	CCDS13876.1	22	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705215	0.68615	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.06	5.06	0.68205	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.130888	0.52532	D	0.000065	T	0.62551	0.2437	N	0.11000	0.08	0.80722	D	1	B;B;B;B	0.23185	0.081;0.016;0.006;0.023	B;B;B;B	0.25405	0.034;0.041;0.06;0.026	T	0.57917	-0.7728	9	.	.	.	-23.431	18.2021	0.89842	0.0:1.0:0.0:0.0	.	92;101;175;175	F5H3U4;B3KRD8;O76054;O76054-4	.;.;S14L2_HUMAN;.	F	175;121;101;175;92;9	ENSP00000316203:L175F;ENSP00000387781:L121F;ENSP00000383993:L101F;ENSP00000385186:L175F;ENSP00000383882:L92F;ENSP00000415178:L9F	.	L	+	1	0	RP4-539M6.19;SEC14L2	29135418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.566000	0.67372	2.638000	0.89438	0.655000	0.94253	CTC	SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.458	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	C	NM_012429		30805418	+1	no_errors	ENST00000312932	ensembl	human	known	70_37	missense	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47163506	47163506	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:47163506T>C	ENST00000409792.3	-	3	2662	c.2620A>G	c.(2620-2622)Att>Gtt	p.I874V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	874					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAACTCCCAATAGGTTGATAT	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													73.0	75.0	74.0					3																	47163506		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2620A>G	3.37:g.47163506T>C	ENSP00000386759:p.Ile874Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.I874V	ENST00000409792.3	37	c.2620	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.228718	0.00280	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87179	-2.22;1.67	4.99	-6.35	0.01975	.	0.625481	0.14860	N	0.294151	T	0.61362	0.2341	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61033	-0.7144	10	0.02654	T	1	.	8.782	0.34798	0.0:0.529:0.2752:0.1958	.	874;874	F2Z317;Q9BYW2	.;SETD2_HUMAN	V	874;874;874;830	ENSP00000386759:I874V;ENSP00000416401:I830V	ENSP00000386759:I874V	I	-	1	0	SETD2	47138510	0.000000	0.05858	0.010000	0.14722	0.611000	0.37282	-0.588000	0.05774	-1.053000	0.03218	-0.331000	0.08364	ATT	SETD2	-	NULL		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	T	NM_014159		47163506	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.001	C
SIGLEC6	946	genome.wustl.edu	37	19	52034738	52034738	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:52034738C>T	ENST00000425629.3	-	2	257	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G35R|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G35R|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.G35R|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G35R	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	35	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GACTCTGGCCCCTCCAGCTGG	0.632																																																	0													46.0	52.0	50.0					19																	52034738		2175	4287	6462	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.103G>A	19.37:g.52034738C>T	ENSP00000401502:p.Gly35Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G35R	ENST00000425629.3	37	c.103	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179508	0.38511	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	2.82	-3.18	0.05186	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.670100	0.04822	U	0.437155	T	0.53753	0.1816	N	0.14661	0.345	0.09310	N	1	P;B;B;P;P;B	0.41498	0.635;0.04;0.032;0.6;0.752;0.069	B;B;B;B;P;B	0.48598	0.429;0.065;0.064;0.429;0.583;0.034	T	0.48422	-0.9037	10	0.48119	T	0.1	.	4.1439	0.10207	0.0:0.3108:0.4179:0.2712	.	35;35;35;35;35;35	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	R	24;35;35;35;35;35	ENSP00000375674:G35R;ENSP00000401502:G35R;ENSP00000353071:G35R;ENSP00000345907:G35R	ENSP00000345907:G35R	G	-	1	0	SIGLEC6	56726550	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.019000	0.03622	-0.690000	0.05142	0.306000	0.20318	GGG	SIGLEC6	-	pfam_Ig_V-set		0.632	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	C	NM_001245		52034738	-1	no_errors	ENST00000425629	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC22A7	10864	genome.wustl.edu	37	6	43270123	43270123	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:43270123C>T	ENST00000372585.5	+	8	1342	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	SLC22A7_ENST00000372589.3_Missense_Mutation_p.A414V|SLC22A7_ENST00000372574.3_Missense_Mutation_p.A414V	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	416					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A416V(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACGGCCCTGGCGTTCGGCACT	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											41.0	35.0	37.0					6																	43270123		2202	4300	6502	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1247C>T	6.37:g.43270123C>T	ENSP00000361666:p.Ala416Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A416V	ENST00000372585.5	37	c.1247	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209346	0.39003	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.74947	0.2;0.2;0.2;-0.89	5.27	4.35	0.52113	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.595751	0.17522	N	0.171230	T	0.44052	0.1275	L	0.46819	1.47	0.19300	N	0.999978	B;B;B	0.27316	0.175;0.145;0.145	B;B;B	0.29862	0.108;0.065;0.065	T	0.39981	-0.9587	10	0.02654	T	1	.	11.0316	0.47776	0.0:0.812:0.188:0.0	.	416;414;414	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	V	414;416;414;109	ENSP00000361670:A414V;ENSP00000361666:A416V;ENSP00000361655:A414V;ENSP00000393836:A109V	ENSP00000361655:A414V	A	+	2	0	SLC22A7	43378101	0.006000	0.16342	0.024000	0.17045	0.121000	0.20230	1.858000	0.39408	2.468000	0.83385	0.462000	0.41574	GCG	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.672	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	C			43270123	+1	no_errors	ENST00000372585	ensembl	human	known	70_37	missense	SNP	0.007	T
SLC26A9	115019	genome.wustl.edu	37	1	205897082	205897082	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:205897082G>A	ENST00000367135.3	-	9	1162	c.1049C>T	c.(1048-1050)gCt>gTt	p.A350V	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A350V|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A350V	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	350					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCGGCCCATAGCCAGGTTGAT	0.622																																																	0													102.0	86.0	92.0					1																	205897082		2203	4300	6503	SO:0001583	missense	115019			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1049C>T	1.37:g.205897082G>A	ENSP00000356103:p.Ala350Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.A350V	ENST00000367135.3	37	c.1049	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244373	0.79912	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93811	-3.29;-3.29;-3.29	5.08	5.08	0.68730	Sulphate transporter (1);	0.142736	0.44688	D	0.000432	D	0.96207	0.8763	M	0.69358	2.11	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.79784	0.984;0.993	D	0.96446	0.9330	10	0.72032	D	0.01	.	18.2466	0.89988	0.0:0.0:1.0:0.0	.	350;350	Q7LBE3;B1AVM8	S26A9_HUMAN;.	V	350	ENSP00000341682:A350V;ENSP00000356103:A350V;ENSP00000356102:A350V	ENSP00000341682:A350V	A	-	2	0	SLC26A9	204163705	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	9.120000	0.94369	2.640000	0.89533	0.655000	0.94253	GCT	SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.622	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	G	NM_052934		205897082	-1	no_errors	ENST00000340781	ensembl	human	known	70_37	missense	SNP	0.999	A
SLC34A2	10568	genome.wustl.edu	37	4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0																																										SO:0001651	inframe_deletion	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.C621in_frame_del	ENST00000382051.3	37	c.1850_1852	CCDS3435.1	4																																																																																			SLC34A2	-	NULL		0.640	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	GCT	NM_006424		25678150	+1	no_errors	ENST00000382051	ensembl	human	known	70_37	in_frame_del	DEL	0.353:0.958:1.000	-
SLC35B3	51000	genome.wustl.edu	37	6	8413801	8413801	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:8413801G>A	ENST00000379660.4	-	11	1636	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	396					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					CTGTGCCAGCGTCCTTGACTT	0.318																																					Melanoma(83;700 1353 9357 11478 30548)												0													88.0	82.0	84.0					6																	8413801		2203	4299	6502	SO:0001583	missense	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.1187C>T	6.37:g.8413801G>A	ENSP00000368981:p.Thr396Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	pfam_UAA	p.T396M	ENST00000379660.4	37	c.1187	CCDS4508.1	6	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017863	0.54576	.	.	ENSG00000124786	ENST00000379660	T	0.32988	1.43	5.72	5.72	0.89469	.	0.176851	0.51477	D	0.000082	T	0.23133	0.0559	L	0.57536	1.79	0.80722	D	1	P	0.51240	0.943	B	0.40228	0.323	T	0.03166	-1.1065	9	.	.	.	-14.174	19.8968	0.96969	0.0:0.0:1.0:0.0	.	396	Q9H1N7	S35B3_HUMAN	M	396	ENSP00000368981:T396M	.	T	-	2	0	SLC35B3	8358800	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	4.483000	0.60264	2.691000	0.91804	0.655000	0.94253	ACG	SLC35B3	-	NULL		0.318	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B3	HGNC	protein_coding	OTTHUMT00000039802.1	G	NM_015948		8413801	-1	no_errors	ENST00000379660	ensembl	human	known	70_37	missense	SNP	1.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2697930	2697930	+	Silent	SNP	T	T	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr18:2697930T>C	ENST00000320876.6	+	10	1571	c.1233T>C	c.(1231-1233)ttT>ttC	p.F411F	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.F411F	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	411					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTGATAGTTTTGAATTCAAAG	0.383																																																	0													175.0	162.0	166.0					18																	2697930		1912	4130	6042	SO:0001819	synonymous_variant	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1233T>C	18.37:g.2697930T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.F411	ENST00000320876.6	37	c.1233	CCDS45822.1	18																																																																																			SMCHD1	-	NULL		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	T			2697930	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	silent	SNP	1.000	C
SOS1	6654	genome.wustl.edu	37	2	39213258	39213258	+	Missense_Mutation	SNP	G	G	C	rs371408734		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:39213258G>C	ENST00000426016.1	-	24	3795	c.3709C>G	c.(3709-3711)Cct>Gct	p.P1237A	SOS1_ENST00000402219.2_Missense_Mutation_p.P1237A|SOS1_ENST00000395038.2_Missense_Mutation_p.P1222A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1237					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTGCCCAAAGGGGGAGGTTGG	0.517									Noonan syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18893	0.0		0.0	False		,,,				2504	0.001																0								G	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	135.0	139.0	138.0		3709	5.8	1.0	2		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	SOS1	NM_005633.3	27	0,2,6501	CC,CG,GG		0.0116,0.0227,0.0154	probably-damaging	1237/1334	39213258	2,13004	2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3709C>G	2.37:g.39213258G>C	ENSP00000387784:p.Pro1237Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.P1237A	ENST00000426016.1	37	c.3709	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	15.54	2.865270	0.51588	2.27E-4	1.16E-4	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.80123	-1.0;-1.0;-1.34	5.8	5.8	0.92144	.	0.055972	0.64402	D	0.000001	D	0.88108	0.6348	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86515	0.1812	10	0.44086	T	0.13	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	1237	Q07889	SOS1_HUMAN	A	1237;1237;954;1222	ENSP00000387784:P1237A;ENSP00000384675:P1237A;ENSP00000378479:P1222A	ENSP00000378479:P1222A	P	-	1	0	SOS1	39066762	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	8.646000	0.91053	2.741000	0.93983	0.650000	0.86243	CCT	SOS1	-	NULL		0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	G	NM_005633		39213258	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	missense	SNP	1.000	C
SOX3	6658	genome.wustl.edu	37	X	139586614	139586614	+	Silent	SNP	C	C	T	rs140549532		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:139586614C>T	ENST00000370536.2	-	1	611	c.612G>A	c.(610-612)ccG>ccA	p.P204P		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	204					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ACTTGTAGTCCGGATACTCCT	0.642																																																	0													61.0	54.0	56.0					X																	139586614		2203	4300	6503	SO:0001819	synonymous_variant	6658				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.612G>A	X.37:g.139586614C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P204	ENST00000370536.2	37	c.612	CCDS14669.1	X																																																																																			SOX3	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.642	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	C			139586614	-1	no_errors	ENST00000370536	ensembl	human	known	70_37	silent	SNP	1.000	T
SRSF11	9295	genome.wustl.edu	37	1	70716118	70716120	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:70716118_70716120delAAG	ENST00000370950.3	+	12	1271_1273	c.1189_1191delAAG	c.(1189-1191)aagdel	p.K400del	SRSF11_ENST00000370951.1_In_Frame_Del_p.K400del|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_In_Frame_Del_p.K400del|SRSF11_ENST00000370949.1_In_Frame_Del_p.K340del			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	400	Poly-Lys.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						atcaacaagcaagaagaagaaga	0.315																																																	0																																										SO:0001651	inframe_deletion	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1189_1191delAAG	1.37:g.70716127_70716129delAAG	ENSP00000359988:p.Lys400del	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T758|Q8IWE6	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K400in_frame_del	ENST00000370950.3	37	c.1189_1191	CCDS647.1	1																																																																																			SRSF11	-	NULL		0.315	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	AAG	NM_004768		70716120	+1	no_errors	ENST00000370950	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
STAP2	55620	genome.wustl.edu	37	19	4327333	4327333	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:4327333C>T	ENST00000594605.1	-	7	763	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	STAP2_ENST00000600324.1_Missense_Mutation_p.V214M|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	214	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATCGATCACGTACTTGGGG	0.637																																																	0													99.0	86.0	90.0					19																	4327333		2203	4300	6503	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.640G>A	19.37:g.4327333C>T	ENSP00000471052:p.Val214Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.V214M	ENST00000594605.1	37	c.640	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454372	0.63290	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.57	0.825	0.18824	SH2 motif (3);	0.624565	0.16341	N	0.218652	T	0.52853	0.1760	M	0.63843	1.955	0.26836	N	0.968483	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.39603	-0.9606	9	0.87932	D	0	-10.8123	5.6397	0.17557	0.0:0.5728:0.0:0.4272	.	214;214	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	M	214	.	ENSP00000317912:V214M	V	-	1	0	STAP2	4278333	0.964000	0.33143	0.572000	0.28498	0.682000	0.39822	0.217000	0.17603	0.310000	0.22990	0.555000	0.69702	GTG	STAP2	-	pfscan_SH2		0.637	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	C	NM_001013841		4327333	-1	no_errors	ENST00000314714	ensembl	human	known	70_37	missense	SNP	0.771	T
STX3	6809	genome.wustl.edu	37	11	59560895	59560895	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:59560895G>A	ENST00000337979.4	+	8	1130	c.583G>A	c.(583-585)Gag>Aag	p.E195K	STX3_ENST00000529177.1_Missense_Mutation_p.E195K|STX3_ENST00000535361.1_Missense_Mutation_p.E195K|STX3_ENST00000437946.2_Missense_Mutation_p.E98K|STX3_ENST00000300150.7_Missense_Mutation_p.E164K	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	195	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGTGAGATTGAGGGACGACA	0.517																																																	0													117.0	93.0	101.0					11																	59560895		2201	4295	6496	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.583G>A	11.37:g.59560895G>A	ENSP00000338562:p.Glu195Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E195K	ENST00000337979.4	37	c.583	CCDS7975.1	11	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020442	0.93462	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	5.1	3.13	0.36017	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.094132	0.64402	D	0.000001	T	0.42720	0.1215	L	0.58510	1.815	0.58432	D	0.999997	P;D;D;D	0.76494	0.775;0.997;0.999;0.999	P;P;D;D	0.69479	0.528;0.871;0.964;0.92	T	0.19647	-1.0299	10	0.62326	D	0.03	-39.1755	10.4595	0.44570	0.0:0.1458:0.7028:0.1514	.	98;195;195;195	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	K	164;195;195;98;195;147	ENSP00000300150:E164K;ENSP00000338562:E195K;ENSP00000441649:E195K;ENSP00000393536:E98K;ENSP00000433248:E195K;ENSP00000431386:E147K	ENSP00000300150:E164K	E	+	1	0	STX3	59317471	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	9.273000	0.95719	0.472000	0.27344	0.650000	0.86243	GAG	STX3	-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.517	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	G	NM_004177		59560895	+1	no_errors	ENST00000337979	ensembl	human	known	70_37	missense	SNP	1.000	A
STXBP5L	9515	genome.wustl.edu	37	3	120957831	120957831	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:120957831G>C	ENST00000273666.6	+	13	1469	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	STXBP5L_ENST00000472879.1_Missense_Mutation_p.E400Q|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E400Q|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E400Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E400Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	400					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCAATCTTTGAAAATCCATA	0.313																																																	0													50.0	46.0	47.0					3																	120957831		1817	4077	5894	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1198G>C	3.37:g.120957831G>C	ENSP00000273666:p.Glu400Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E400Q	ENST00000273666.6	37	c.1198	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275244	0.80580	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.61627	1.91;0.09;0.09;1.21;0.09;0.09	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.35644	1.08	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.62671	-0.6805	10	0.27082	T	0.32	-39.6187	18.4118	0.90554	0.0:0.0:1.0:0.0	.	400;400	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	400	ENSP00000273666:E400Q;ENSP00000420019:E400Q;ENSP00000419627:E400Q;ENSP00000420287:E400Q;ENSP00000420666:E400Q;ENSP00000420167:E400Q	ENSP00000273666:E400Q	E	+	1	0	STXBP5L	122440521	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.604000	0.98317	2.582000	0.87167	0.655000	0.94253	GAA	STXBP5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	G			120957831	+1	no_errors	ENST00000273666	ensembl	human	known	70_37	missense	SNP	1.000	C
SYNM	23336	genome.wustl.edu	37	15	99670051	99670051	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:99670051C>G	ENST00000560674.1	+	4	1097	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	SYNM_ENST00000328642.7_Missense_Mutation_p.L495V|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.L495V			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	496	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GACCGTCATTCTGGGAAAGAA	0.493																																					Pancreas(125;1071 1762 21750 40003 40381)												0													37.0	38.0	37.0					15																	99670051		1939	4144	6083	SO:0001583	missense	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.628C>G	15.37:g.99670051C>G	ENSP00000453040:p.Leu210Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.L495V	ENST00000560674.1	37	c.1483		15	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285391	0.01387	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.20463	2.07;2.07	5.5	-6.36	0.01969	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.003	T	0.32025	-0.9922	8	0.36615	T	0.2	.	3.6757	0.08291	0.0855:0.2541:0.3595:0.3009	.	496;495	O15061;C9JIE4	SYNEM_HUMAN;.	V	495	ENSP00000336775:L495V;ENSP00000330469:L495V	ENSP00000330469:L495V	L	+	1	2	SYNM	97487574	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.070000	0.01380	-1.066000	0.03164	-2.192000	0.00311	CTG	SYNM	-	NULL		0.493	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	C	NM_145728		99670051	+1	no_errors	ENST00000336292	ensembl	human	known	70_37	missense	SNP	0.000	G
TBC1D25	4943	genome.wustl.edu	37	X	48403316	48403316	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chrX:48403316T>C	ENST00000376771.4	+	3	634	c.293T>C	c.(292-294)cTc>cCc	p.L98P	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	98					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAAGTTTACCTCTCACTTCTA	0.572																																																	0													90.0	72.0	78.0					X																	48403316		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.293T>C	X.37:g.48403316T>C	ENSP00000365962:p.Leu98Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L98P	ENST00000376771.4	37	c.293	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652050	0.67472	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.55930	0.49;0.49	5.64	4.47	0.54385	.	0.157302	0.42420	D	0.000716	T	0.66528	0.2798	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.69142	0.935;0.935;0.962	T	0.66972	-0.5788	10	0.87932	D	0	-10.0053	7.3661	0.26774	0.0:0.0999:0.0:0.9001	.	102;40;98	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	P	98;114	ENSP00000365962:L98P;ENSP00000402268:L114P	ENSP00000365962:L98P	L	+	2	0	TBC1D25	48288260	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	4.155000	0.58131	0.766000	0.33244	0.425000	0.28330	CTC	TBC1D25	-	NULL		0.572	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	T	NM_002536		48403316	+1	no_errors	ENST00000376771	ensembl	human	known	70_37	missense	SNP	1.000	C
TCP10L2	401285	genome.wustl.edu	37	6	167585684	167585684	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr6:167585684G>C	ENST00000366832.2	+	2	183	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	18										endometrium(1)|kidney(2)|lung(3)	6						CACCCACCCAGAGGACCCGTG	0.662																																																	0													28.0	40.0	36.0					6																	167585684		692	1591	2283	SO:0001583	missense	401285				CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.52G>C	6.37:g.167585684G>C	ENSP00000355797:p.Glu18Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E18Q	ENST00000366832.2	37	c.52	CCDS47514.1	6	.	.	.	.	.	.	.	.	.	.	g	13.17	2.158134	0.38119	.	.	ENSG00000166984	ENST00000486697;ENST00000366832	T	0.20332	2.08	2.61	1.71	0.24356	.	.	.	.	.	T	0.22437	0.0541	M	0.64997	1.995	0.09310	N	1	D	0.67145	0.996	D	0.75484	0.986	T	0.04115	-1.0976	9	0.66056	D	0.02	.	5.3024	0.15785	0.176:0.0:0.824:0.0	.	18	B9ZVM9	TCP2L_HUMAN	Q	18	ENSP00000355797:E18Q	ENSP00000283507:E18Q	E	+	1	0	TCP10L2	167505674	0.012000	0.17670	0.001000	0.08648	0.008000	0.06430	1.331000	0.33793	0.412000	0.25729	0.416000	0.27883	GAG	TCP10L2	-	NULL		0.662	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TCP10L2	HGNC	protein_coding	OTTHUMT00000043112.5	G	XR_040749		167585684	+1	no_errors	ENST00000283507	ensembl	human	known	70_37	missense	SNP	0.001	C
TP53BP1	7158	genome.wustl.edu	37	15	43748156	43748156	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:43748156C>T	ENST00000263801.3	-	12	2887	c.2635G>A	c.(2635-2637)Gca>Aca	p.A879T	TP53BP1_ENST00000450115.2_Missense_Mutation_p.A884T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A884T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A884T|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	879					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGGGCCTCTGCATCTGAGCTT	0.468								Other conserved DNA damage response genes																																									0													103.0	103.0	103.0					15																	43748156		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2635G>A	15.37:g.43748156C>T	ENSP00000263801:p.Ala879Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A884T	ENST00000263801.3	37	c.2650	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626670	0.14257	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546;ENST00000414758	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;2.94	5.23	2.31	0.28768	.	1.437170	0.04272	N	0.342312	T	0.25865	0.0630	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.25007	0.116;0.002;0.004;0.004	B;B;B;B	0.18871	0.023;0.002;0.006;0.006	T	0.19031	-1.0318	10	0.13853	T	0.58	1.2983	7.9192	0.29835	0.0:0.7377:0.0:0.2623	.	884;879;884;884	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	879;884;884;884;884;23	ENSP00000263801:A879T;ENSP00000371475:A884T;ENSP00000371470:A884T;ENSP00000393497:A884T;ENSP00000388028:A884T	ENSP00000263801:A879T	A	-	1	0	TP53BP1	41535448	0.000000	0.05858	0.000000	0.03702	0.735000	0.41995	0.080000	0.14802	0.287000	0.22375	0.650000	0.86243	GCA	TP53BP1	-	NULL		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43748156	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.000	T
TRIM49C	642612	genome.wustl.edu	37	11	89774688	89774688	+	Silent	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:89774688C>G	ENST00000448984.1	+	8	1658	c.1329C>G	c.(1327-1329)ctC>ctG	p.L443L	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|lung(4)	8						CACCTCCTCTCAGGCCTATCT	0.433																																																	0																																										SO:0001819	synonymous_variant	642612			BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.1329C>G	11.37:g.89774688C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L443	ENST00000448984.1	37	c.1329	CCDS53694.1	11																																																																																			TRIM49C	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.433	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM49C	HGNC	protein_coding	OTTHUMT00000395455.1	C	NM_001195234		89774688	+1	no_errors	ENST00000448984	ensembl	human	known	70_37	silent	SNP	0.004	G
TTF2	8458	genome.wustl.edu	37	1	117639973	117639973	+	Splice_Site	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr1:117639973G>T	ENST00000369466.4	+	21	3231	c.3187G>T	c.(3187-3189)Gta>Tta	p.V1063L	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1063	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTTTTGAAGGTAATGCTAAT	0.418																																																	0													288.0	275.0	279.0					1																	117639973		2203	4300	6503	SO:0001630	splice_region_variant	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3187-1G>T	1.37:g.117639973G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1063L	ENST00000369466.4	37	c.3187	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160376	0.57368	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	D;D	0.82255	-1.59;-1.59	5.15	3.25	0.37280	Helicase, C-terminal (3);	0.240432	0.21675	N	0.070817	T	0.79575	0.4469	M	0.64676	1.99	0.80722	D	1	D	0.54047	0.964	P	0.54856	0.762	T	0.77920	-0.2407	9	.	.	.	-10.3872	8.7674	0.34711	0.0847:0.1524:0.7628:0.0	.	1063	Q9UNY4	TTF2_HUMAN	L	1063;44	ENSP00000358478:V1063L;ENSP00000408111:V44L	.	V	+	1	0	TTF2	117441496	1.000000	0.71417	0.930000	0.37139	0.191000	0.23601	7.096000	0.76960	0.665000	0.31066	0.448000	0.29417	GTA	TTF2	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.418	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	G		Missense_Mutation	117639973	+1	no_errors	ENST00000369466	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBBP5	643224	genome.wustl.edu	37	9	141071667	141071667	+	RNA	SNP	C	C	T	rs369499255		TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr9:141071667C>T	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		CAGGATGCCACGGCCAaggag	0.532																																																	0																																												643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071667C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-		0.532	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	C	NR_027156		141071667	+1	no_errors	ENST00000290377	ensembl	human	known	70_37	rna	SNP	1.000	T
UBE2E1	7324	genome.wustl.edu	37	3	23930675	23930675	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:23930675G>C	ENST00000306627.3	+	5	628	c.409G>C	c.(409-411)Gat>Cat	p.D137H	UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000467766.1_Missense_Mutation_p.D104H|UBE2E1_ENST00000424381.1_Missense_Mutation_p.D104H|UBE2E1_ENST00000346855.3_Missense_Mutation_p.D120H	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						CATATTGAAAGATAATTGGAG	0.338																																																	0													161.0	153.0	156.0					3																	23930675		2202	4298	6500	SO:0001583	missense	7324			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.409G>C	3.37:g.23930675G>C	ENSP00000303709:p.Asp137His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D137H	ENST00000306627.3	37	c.409	CCDS2638.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.345326	0.95807	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000442670;ENST00000424381;ENST00000452012	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.91	5.91	0.95273	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.071833	0.56097	N	0.000031	D	0.87273	0.6136	M	0.80183	2.485	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.99	D;D;P	0.67548	0.952;0.952;0.857	D	0.87817	0.2635	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	104;137;137	B7Z306;C9J2P0;P51965	.;.;UB2E1_HUMAN	H	137;120;137;104;95	ENSP00000303709:D137H;ENSP00000329113:D120H;ENSP00000410652:D137H;ENSP00000411351:D104H;ENSP00000393088:D95H	ENSP00000303709:D137H	D	+	1	0	UBE2E1	23905679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAT	UBE2E1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.338	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2	G	NM_003341		23930675	+1	no_errors	ENST00000306627	ensembl	human	known	70_37	missense	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82817176	82817176	+	Silent	SNP	T	T	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr5:82817176T>G	ENST00000265077.3	+	7	3616	c.3051T>G	c.(3049-3051)tcT>tcG	p.S1017S	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.S1017S|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.S969S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1017	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CGACTATTTCTCCAGAAACTA	0.428																																																	0													44.0	44.0	44.0					5																	82817176		2203	4299	6502	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3051T>G	5.37:g.82817176T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1017	ENST00000265077.3	37	c.3051	CCDS4060.1	5																																																																																			VCAN	-	NULL		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	T	NM_004385		82817176	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	silent	SNP	0.002	G
VWA9	81556	genome.wustl.edu	37	15	65871854	65871854	+	Silent	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr15:65871854G>A	ENST00000395644.4	-	12	1784	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	VWA9_ENST00000569491.1_Silent_p.A433A|VWA9_ENST00000567744.1_Silent_p.A519A|VWA9_ENST00000442903.3_Silent_p.A447A|VWA9_ENST00000420799.2_Silent_p.A426A|VWA9_ENST00000313182.2_Silent_p.A483A|VWA9_ENST00000431261.2_Silent_p.A404A			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	483																	TGAGCTGCTGGGCAGCATGGG	0.572																																																	0													90.0	81.0	84.0					15																	65871854		2201	4299	6500	SO:0001819	synonymous_variant	81556			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1449C>T	15.37:g.65871854G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Silent	SNP	NULL	p.A519	ENST00000395644.4	37	c.1557		15																																																																																			VWA9	-	NULL		0.572	VWA9-201	KNOWN	basic|appris_principal	protein_coding	VWA9	HGNC	protein_coding	OTTHUMT00000420604.3	G	NM_030800		65871854	-1	no_errors	ENST00000567744	ensembl	human	known	70_37	silent	SNP	1.000	A
ZC3H10	84872	genome.wustl.edu	37	12	56512080	56512080	+	5'UTR	SNP	A	A	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr12:56512080A>G	ENST00000257940.2	+	0	138				RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|ZC3H10_ENST00000549973.1_3'UTR|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			AGGCGGCAGCAGCAACTACGG	0.706											OREG0021917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	84872			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.-139A>G	12.37:g.56512080A>G		Somatic	1016	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000257940.2	37	NULL	CCDS8903.1	12																																																																																			ZC3H10	-	-		0.706	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	A	NM_032786		56512080	+1	no_errors	ENST00000549973	ensembl	human	known	70_37	rna	SNP	1.000	G
ZFP28	140612	genome.wustl.edu	37	19	57066448	57066448	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:57066448C>T	ENST00000301318.3	+	8	2365	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGTGGCAAAGCCTTTAGTCAT	0.393																																					Ovarian(124;554 1662 19430 21141 52494)												0													135.0	121.0	126.0					19																	57066448		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2294C>T	19.37:g.57066448C>T	ENSP00000301318:p.Ala765Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A765V	ENST00000301318.3	37	c.2294	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274751	0.59649	.	.	ENSG00000196867	ENST00000301318	T	0.13778	2.56	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000330	T	0.20659	0.0497	N	0.17723	0.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01874	-1.1256	10	0.62326	D	0.03	.	10.6594	0.45694	0.0:0.6742:0.3257:0.0	.	765	Q8NHY6	ZFP28_HUMAN	V	765	ENSP00000301318:A765V	ENSP00000301318:A765V	A	+	2	0	ZFP28	61758260	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.522000	0.22909	2.233000	0.73108	0.561000	0.74099	GCC	ZFP28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	C	NM_020828		57066448	+1	no_errors	ENST00000301318	ensembl	human	known	70_37	missense	SNP	0.998	T
ZFP36L2	678	genome.wustl.edu	37	2	43452806	43452806	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr2:43452806G>A	ENST00000282388.3	-	2	430	c.137C>T	c.(136-138)tCg>tTg	p.S46L	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	46					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGCGAAGCCCGAGCTGGGGGC	0.687																																																	0													9.0	11.0	10.0					2																	43452806		2161	4256	6417	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.137C>T	2.37:g.43452806G>A	ENSP00000282388:p.Ser46Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.S46L	ENST00000282388.3	37	c.137	CCDS1811.1	2	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218991	0.58560	.	.	ENSG00000152518	ENST00000282388	T	0.57595	0.39	5.35	4.46	0.54185	Tis11B-like protein, N-terminal (1);	0.609712	0.14873	N	0.293419	T	0.42268	0.1195	L	0.44542	1.39	0.80722	D	1	P	0.45986	0.87	B	0.35470	0.203	T	0.51521	-0.8695	10	0.87932	D	0	-23.5605	12.3821	0.55313	0.0823:0.0:0.9177:0.0	.	46	P47974	TISD_HUMAN	L	46	ENSP00000282388:S46L	ENSP00000282388:S46L	S	-	2	0	ZFP36L2	43306310	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.484000	0.66844	2.503000	0.84419	0.561000	0.74099	TCG	ZFP36L2	-	pfam_Tis11B_N		0.687	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	G	NM_006887		43452806	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	missense	SNP	0.996	A
ZNF143	7702	genome.wustl.edu	37	11	9495505	9495505	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:9495505G>T	ENST00000396602.2	+	4	342	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	ZNF143_ENST00000299606.2_Missense_Mutation_p.G75C|ZNF143_ENST00000396604.1_Missense_Mutation_p.G75C|ZNF143_ENST00000530463.1_Missense_Mutation_p.G75C|ZNF143_ENST00000396597.3_Missense_Mutation_p.G44C	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	75					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACTCATAGATGGCCAGGTCAT	0.323																																																	0													151.0	152.0	152.0					11																	9495505		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.223G>T	11.37:g.9495505G>T	ENSP00000379847:p.Gly75Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G75C	ENST00000396602.2	37	c.223	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809833	0.90707	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370	T;T;T;T;T;T;T;T;T;T;T;T	0.61040	0.35;2.09;2.44;2.09;0.58;0.2;2.58;0.14;0.2;2.48;0.16;0.34	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.77273	-0.2649	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	44;75;75	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	C	75;75;75;75;44;75;44;75;75;75;75;75;75	ENSP00000434638:G75C;ENSP00000379849:G75C;ENSP00000379847:G75C;ENSP00000432154:G75C;ENSP00000434922:G44C;ENSP00000433221:G75C;ENSP00000379843:G44C;ENSP00000409432:G75C;ENSP00000435881:G75C;ENSP00000299606:G75C;ENSP00000433743:G75C;ENSP00000388628:G75C	ENSP00000299606:G75C	G	+	1	0	ZNF143	9452081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.052000	0.93855	2.941000	0.99782	0.655000	0.94253	GGC	ZNF143	-	NULL		0.323	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	G	NM_003442		9495505	+1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFPL1	7542	genome.wustl.edu	37	11	64854869	64854869	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr11:64854869G>A	ENST00000294258.3	+	7	862	c.710G>A	c.(709-711)cGt>cAt	p.R237H	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	237					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AAGTACCGACGTCGGCCGGCC	0.622																																																	0													77.0	81.0	79.0					11																	64854869		2201	4297	6498	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.710G>A	11.37:g.64854869G>A	ENSP00000294258:p.Arg237His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.R237H	ENST00000294258.3	37	c.710	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.263145	0.95399	.	.	ENSG00000162300	ENST00000294258	T	0.58940	0.3	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76836	-0.2812	10	0.87932	D	0	-32.7541	15.2787	0.73764	0.0:0.0:1.0:0.0	.	237	O95159	ZFPL1_HUMAN	H	237	ENSP00000294258:R237H	ENSP00000294258:R237H	R	+	2	0	ZFPL1	64611445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.025000	0.88777	2.537000	0.85549	0.650000	0.86243	CGT	ZFPL1	-	NULL		0.622	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	G	NM_006782		64854869	+1	no_errors	ENST00000294258	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF43	7594	genome.wustl.edu	37	19	21992363	21992363	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:21992363G>A	ENST00000354959.4	-	4	645	c.476C>T	c.(475-477)tCa>tTa	p.S159L	ZNF43_ENST00000594012.1_Missense_Mutation_p.S153L|ZNF43_ENST00000595461.1_Missense_Mutation_p.S153L|ZNF43_ENST00000598381.1_Missense_Mutation_p.S153L	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTGAATTTGAAAATTTATG	0.333																																																	0													38.0	38.0	38.0					19																	21992363		2202	4295	6497	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.476C>T	19.37:g.21992363G>A	ENSP00000347045:p.Ser159Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S159L	ENST00000354959.4	37	c.476	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	G	3.406	-0.121240	0.06838	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.30981	1.51	1.26	-0.0138	0.13982	.	.	.	.	.	T	0.29288	0.0729	M	0.69823	2.125	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.28332	-1.0047	9	0.40728	T	0.16	.	6.3605	0.21425	0.1856:0.0:0.8144:0.0	.	159	P17038	ZNF43_HUMAN	L	158;159	ENSP00000347045:S159L	ENSP00000347045:S159L	S	-	2	0	ZNF43	21784203	0.000000	0.05858	0.015000	0.15790	0.053000	0.15095	-1.089000	0.03376	-0.176000	0.10707	-0.350000	0.07774	TCA	ZNF43	-	NULL		0.333	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	G	NM_003423		21992363	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF860	344787	genome.wustl.edu	37	3	32030845	32030845	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr3:32030845C>A	ENST00000360311.4	+	2	823	c.274C>A	c.(274-276)Cat>Aat	p.H92N		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						ATTAGAAAGACATGAAAGTCA	0.388																																																	0													85.0	67.0	72.0					3																	32030845		692	1591	2283	SO:0001583	missense	344787			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.274C>A	3.37:g.32030845C>A	ENSP00000373274:p.His92Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFA4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H92N	ENST00000360311.4	37	c.274	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262738	0.23051	.	.	ENSG00000197385	ENST00000360311	T	0.04654	3.58	0.345	0.345	0.16011	Krueppel-associated box (1);	.	.	.	.	T	0.05914	0.0154	M	0.72479	2.2	0.22581	N	0.998963	P	0.43633	0.813	B	0.36289	0.221	T	0.30592	-0.9973	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	92	A6NHJ4	ZN860_HUMAN	N	92	ENSP00000373274:H92N	.	H	+	1	0	ZNF860	32005849	0.000000	0.05858	0.091000	0.20842	0.086000	0.17979	-0.291000	0.08343	0.392000	0.25172	0.393000	0.25936	CAT	ZNF860	-	pfscan_Krueppel-associated_box		0.388	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	C			32030845	+1	no_errors	ENST00000360311	ensembl	human	known	70_37	missense	SNP	0.995	A
ZNF93	81931	genome.wustl.edu	37	19	20044223	20044223	+	Silent	SNP	C	C	G			TCGA-C5-A7CO-01A-11D-A351-09	TCGA-C5-A7CO-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da3d48a2-3f68-4e10-9fee-03115d41e633	4da77a40-feeb-4eb9-8eb0-ac7e102e3814	g.chr19:20044223C>G	ENST00000343769.5	+	4	487	c.459C>G	c.(457-459)gtC>gtG	p.V153V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	153				V -> D (in Ref. 5; AAA83548). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATGGGAAAGTCTTTCATAAAT	0.323																																																	0													42.0	45.0	44.0					19																	20044223		2203	4299	6502	SO:0001819	synonymous_variant	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.459C>G	19.37:g.20044223C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V153	ENST00000343769.5	37	c.459	CCDS32973.1	19																																																																																			ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.323	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	C	NM_031218		20044223	+1	no_errors	ENST00000343769	ensembl	human	known	70_37	silent	SNP	0.990	G
