#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
TTN	7273	genome.wustl.edu	37	2	179584492	179584492	+	Missense_Mutation	SNP	C	C	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr2:179584492C>A	ENST00000591111.1	-	80	23000	c.22776G>T	c.(22774-22776)gaG>gaT	p.E7592D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E6665D|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E7909D|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13143	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTACACACTCTAATGCAA	0.393																																							0											0													121.0	111.0	114.0					2																	179584492		1880	4109	5989	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22776G>T	2.37:g.179584492C>A	ENSP00000465570:p.Glu7592Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E6665D	ENST00000591111.1	37	c.19995		2	.	.	.	.	.	.	.	.	.	.	C	6.731	0.503600	0.12822	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	6.08	-3.52	0.04682	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68100	0.2964	M	0.81682	2.555	0.80722	D	1	B	0.24483	0.104	B	0.30855	0.121	T	0.60777	-0.7196	9	0.87932	D	0	.	14.9785	0.71293	0.0:0.437:0.0:0.563	.	7592	Q8WZ42	TITIN_HUMAN	D	6665	ENSP00000343764:E6665D	ENSP00000343764:E6665D	E	-	3	2	TTN	179292737	0.011000	0.17503	0.673000	0.29887	0.701000	0.40568	-1.017000	0.03630	-1.209000	0.02631	-0.797000	0.03246	GAG	0	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	16	323	0	0.00	0	0	C	NM_133378	0	0		179584492	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9	91	60.87	52.60	14	101	SNP	0.097	A
SCN5A	6331	genome.wustl.edu	37	3	38622694	38622694	+	Missense_Mutation	SNP	G	G	A	rs561547165	byFrequency	TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr3:38622694G>A	ENST00000333535.4	-	17	3105	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	SCN5A_ENST00000455624.2_Missense_Mutation_p.R986W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R986W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R986W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R986W|SCN5A_ENST00000425664.1_Missense_Mutation_p.R986W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R986W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R986W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R986W|SCN5A_ENST00000413689.1_Missense_Mutation_p.R986W			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	986					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)	GGCCGCTGCCGCAGGAGACCA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		14047	0.002		0.0	False		,,,				2504	0.0						0.9996,0.0003994											0													13.0	15.0	15.0					3																	38622694		1935	4127	6062	SO:0001583	missense	0			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.2956C>T	3.37:g.38622694G>A	ENSP00000328968:p.Arg986Trp		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R986W	ENST00000333535.4	37	c.2956	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745179	0.49151	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.99	4.08	0.47627	Sodium ion transport-associated (1);	0.613382	0.14521	N	0.314484	D	0.85801	0.5781	L	0.49126	1.545	0.20764	N	0.999854	B;D;B;B;B;D;P	0.63880	0.002;0.964;0.007;0.002;0.002;0.993;0.927	B;P;B;B;B;P;B	0.51945	0.002;0.636;0.001;0.002;0.002;0.685;0.292	T	0.77300	-0.2639	10	0.37606	T	0.19	.	13.3129	0.60390	0.0:0.0:0.7188:0.2812	.	986;986;986;986;986;986;986	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	W	986	ENSP00000398962:R986W;ENSP00000398266:R986W;ENSP00000410257:R986W;ENSP00000388797:R986W;ENSP00000397915:R986W;ENSP00000416634:R986W;ENSP00000328968:R986W;ENSP00000399524:R986W;ENSP00000403355:R986W;ENSP00000413996:R986W	ENSP00000328968:R986W	R	-	1	2	SCN5A	38597698	0.001000	0.12720	0.993000	0.49108	0.898000	0.52572	0.623000	0.24447	2.329000	0.79093	0.561000	0.74099	CGG	0	pfam_Na_trans_assoc,prints_Na_channel_a5su		0.672	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	protein_coding	OTTHUMT00000377958.1	47	23	0	0.00	0	0	G	NM_198056	rs561547165	G->A		38622694	-1	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	14	6	57.58	53.85	19	7	SNP	0.262	A
RHOA	387	genome.wustl.edu	37	3	49400049	49400049	+	Silent	SNP	T	T	G			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr3:49400049T>G	ENST00000418115.1	-	4	672	c.288A>C	c.(286-288)ccA>ccC	p.P96P	RHOA_ENST00000454011.2_Missense_Mutation_p.Q56P|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000422781.1_Silent_p.P96P	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	96					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCACTTTTCTGGGATGTTTT	0.433																																							0											0													83.0	80.0	81.0					3																	49400049		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.288A>C	3.37:g.49400049T>G			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q56P	ENST00000418115.1	37	c.167	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562826	0.45694	.	.	ENSG00000067560	ENST00000454011	T	0.25250	1.81	5.83	3.52	0.40303	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02713	-1.1120	5	.	.	.	.	5.1527	0.15019	0.1443:0.1266:0.0:0.7291	.	.	.	.	P	56	ENSP00000394483:Q56P	.	Q	-	2	0	RHOA	49375053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.582000	0.23834	2.235000	0.73313	0.533000	0.62120	CAG	0	smart_Small_GTPase_Rho		0.433	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	protein_coding	OTTHUMT00000346157.3	104	287	0	0.00	0	0	T	NM_001664	0	0		49400049	-1	no_errors	ENST00000454011	ensembl	human	putative	74_37	missense	34	111	44.44	38.33	28	69	SNP	1	G
HIST1H3F	8968	genome.wustl.edu	37	6	26250543	26250543	+	Silent	SNP	G	G	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr6:26250543G>A	ENST00000446824.2	-	1	292	c.291C>T	c.(289-291)tgC>tgT	p.C97C	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	97					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						GGTAAGCCTCGCAGGCCTCCT	0.607											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											0											0													102.0	101.0	101.0					6																	26250543		2203	4300	6503	SO:0001819	synonymous_variant	0			Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.291C>T	6.37:g.26250543G>A		785	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.C97	ENST00000446824.2	37	c.291	CCDS4600.1	6																																																																																			0	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.607	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3F	protein_coding	OTTHUMT00000040098.1	110	73	0	0.00	0	0	G	NM_021018	0	0		26250543	-1	no_errors	ENST00000446824	ensembl	human	known	74_37	silent	37	15	51.32	42.31	39	11	SNP	1	A
NOTCH4	4855	genome.wustl.edu	37	6	32185850	32185850	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr6:32185850C>G	ENST00000375023.3	-	9	1684	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	516	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGGCACACTCGTTGGTCTCC	0.607																																							0											0													136.0	90.0	106.0					6																	32185850		2203	4300	6503	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1546G>C	6.37:g.32185850C>G	ENSP00000364163:p.Glu516Gln		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.E516Q	ENST00000375023.3	37	c.1546	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184985	0.57909	.	.	ENSG00000204301	ENST00000375023	T	0.67698	-0.28	4.21	4.21	0.49690	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.44688	D	0.000437	T	0.78130	0.4235	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.937	T	0.81718	-0.0805	10	0.72032	D	0.01	.	14.0806	0.64919	0.0:1.0:0.0:0.0	.	516;516	Q6P3V5;Q99466	.;NOTC4_HUMAN	Q	516	ENSP00000364163:E516Q	ENSP00000364163:E516Q	E	-	1	0	NOTCH4	32293828	1.000000	0.71417	0.910000	0.35882	0.026000	0.11368	6.703000	0.74633	2.166000	0.68216	0.462000	0.41574	GAG	0	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	56	116	0	0.00	0	0	C		0	0		32185850	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	20	25	35.48	47.92	11	23	SNP	1	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	312	142	0	0.69	0	1	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	271	52	42.86	43.48	204	40	SNP	1	A
NEFM	4741	genome.wustl.edu	37	8	24774812	24774812	+	Missense_Mutation	SNP	G	G	T	rs61751047	byFrequency	TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr8:24774812G>T	ENST00000221166.5	+	3	2226	c.1444G>T	c.(1444-1446)Gtt>Ttt	p.V482F	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.V482F|NEFM_ENST00000518131.1_Missense_Mutation_p.V482F|NEFM_ENST00000433454.2_Missense_Mutation_p.V106F|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	482	Tail.			V -> A (in Ref. 1; CAA68276). {ECO:0000305}.	axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGAATTGGCCGTTTCCATgaa	0.458																																							0											0													51.0	52.0	52.0					8																	24774812		2203	4300	6503	SO:0001583	missense	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1444G>T	8.37:g.24774812G>T	ENSP00000221166:p.Val482Phe		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.V482F	ENST00000221166.5	37	c.1444	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	1.649	-0.514555	0.04200	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.93763	-1.69;-1.71;-1.66;-3.28	4.65	1.68	0.24146	.	0.326617	0.21428	N	0.074707	D	0.90270	0.6957	M	0.76838	2.35	0.09310	N	1	B;P	0.34780	0.086;0.468	B;B	0.28916	0.022;0.096	D	0.84058	0.0373	10	0.72032	D	0.01	.	6.4158	0.21715	0.2223:0.0:0.6495:0.1282	.	482;482	E7EMV2;P07197	.;NFM_HUMAN	F	482;482;482;106	ENSP00000221166:V482F;ENSP00000427872:V482F;ENSP00000410137:V482F;ENSP00000412295:V106F	ENSP00000221166:V482F	V	+	1	0	NEFM	24830717	0.120000	0.22244	0.037000	0.18230	0.069000	0.16628	1.785000	0.38684	0.499000	0.27970	-1.402000	0.01139	GTT	0	NULL		0.458	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	protein_coding	OTTHUMT00000254954.2	30	136	0	0.00	0	0	G	NM_005382	0	0		24774812	1	no_errors	ENST00000221166	ensembl	human	known	74_37	missense	51	75	41.38	34.78	36	40	SNP	0.001	T
FER1L6	654463	genome.wustl.edu	37	8	125107171	125107171	+	Silent	SNP	C	C	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr8:125107171C>A	ENST00000522917.1	+	35	4793	c.4587C>A	c.(4585-4587)ctC>ctA	p.L1529L	FER1L6_ENST00000399018.1_Silent_p.L1529L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1529						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCTGGCCCTCAAGGTTTTAC	0.502																																							0											0													97.0	89.0	92.0					8																	125107171		1901	4127	6028	SO:0001819	synonymous_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4587C>A	8.37:g.125107171C>A				Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.L1529	ENST00000522917.1	37	c.4587	CCDS43767.1	8																																																																																			0	NULL		0.502	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	53	191	0	0.00	0	0	C	NM_001039112	0	0		125107171	1	no_errors	ENST00000399018	ensembl	human	known	74_37	silent	23	49	48.89	53.33	22	56	SNP	1	A
HRAS	3265	genome.wustl.edu	37	11	533877	533877	+	Missense_Mutation	SNP	C	C	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:533877C>A	ENST00000451590.1	-	3	366	c.179G>T	c.(178-180)gGc>gTc	p.G60V	HRAS_ENST00000417302.1_Missense_Mutation_p.G60V|HRAS_ENST00000397594.1_Missense_Mutation_p.G60V|HRAS_ENST00000311189.7_Missense_Mutation_p.G60V|HRAS_ENST00000397596.2_Missense_Mutation_p.G60V|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	60					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCTCCTGGCCGGCGGTATC	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	0													117.0	102.0	107.0					11																	533877		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.179G>T	11.37:g.533877C>A	ENSP00000407586:p.Gly60Val		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G60V	ENST00000451590.1	37	c.179	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559937	0.65538	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	14.8426	0.70237	0.0:1.0:0.0:0.0	.	60;60	P01112-2;P01112	.;RASH_HUMAN	V	60	ENSP00000380722:G60V;ENSP00000380723:G60V;ENSP00000407586:G60V;ENSP00000388246:G60V;ENSP00000309845:G60V	ENSP00000309845:G60V	G	-	2	0	HRAS	523877	1.000000	0.71417	0.971000	0.41717	0.366000	0.29705	7.514000	0.81750	2.045000	0.60652	0.561000	0.74099	GGC	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	40	219	0	0.00	0	0	C	NM_176795	0	0		533877	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	12	54	60.61	55.37	20	67	SNP	1	A
TRPM5	29850	genome.wustl.edu	37	11	2443403	2443403	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:2443403C>T	ENST00000155858.6	-	2	274	c.266G>A	c.(265-267)cGc>cAc	p.R89H	TRPM5_ENST00000533060.1_Missense_Mutation_p.R89H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R89H|TRPM5_ENST00000452833.1_Missense_Mutation_p.R89H	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCCCCTTGCGCAGCACATC	0.697																																					NSCLC(1;49 61 17205 18850 43201)		0											0													36.0	35.0	35.0					11																	2443403		2202	4298	6500	SO:0001583	missense	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.266G>A	11.37:g.2443403C>T	ENSP00000155858:p.Arg89His			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R89H	ENST00000155858.6	37	c.266	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	c	19.06	3.754425	0.69648	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	2.79	2.79	0.32731	.	0.085571	0.40222	U	0.001145	T	0.15046	0.0363	M	0.73962	2.25	0.34454	D	0.701025	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.975;0.975;0.992	T	0.13124	-1.0521	10	0.62326	D	0.03	-10.9962	11.7816	0.52018	0.0:1.0:0.0:0.0	.	89;89;89	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	H	81;89;89;89;89;89	ENSP00000434383:R81H;ENSP00000155858:R89H;ENSP00000387965:R89H;ENSP00000434121:R89H;ENSP00000436809:R89H	ENSP00000155858:R89H	R	-	2	0	TRPM5	2399979	0.305000	0.24481	0.976000	0.42696	0.541000	0.35023	2.617000	0.46385	1.897000	0.54924	0.586000	0.80456	CGC	0	NULL		0.697	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	protein_coding	OTTHUMT00000027378.1	42	66	0	0.00	0	0	C	NM_014555	0	0		2443403	-1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	14	18	44	40.00	11	12	SNP	0.999	T
COLCA2	120376	genome.wustl.edu	37	11	111179016	111179016	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:111179016G>A	ENST00000398035.2	+	5	1077	c.319G>A	c.(319-321)Gca>Aca	p.A107T	COLCA2_ENST00000526216.1_Missense_Mutation_p.A107T	NM_001136105.2	NP_001129577.1	A8K830	COLC2_HUMAN	colorectal cancer associated 2	107						cytoplasm (GO:0005737)											CTGCTACTGCGCATCGTGTGA	0.592																																							0											0													100.0	89.0	92.0					11																	111179016		692	1591	2283	SO:0001583	missense	0			BC042557	CCDS44728.1, CCDS73378.1	11q23.1	2013-10-11	2013-08-22	2013-08-22	ENSG00000214290	ENSG00000214290			26978	protein-coding gene	gene with protein product	"""cancer susceptibility candidate 13"""	615694	"""chromosome 11 open reading frame 93"""	C11orf93		21071539	Standard	NM_001271457		Approved	CASC13	uc031qea.1	A8K830	OTTHUMG00000166657	ENST00000398035.2:c.319G>A	11.37:g.111179016G>A	ENSP00000381115:p.Ala107Thr		E9PMJ8|Q2TBJ3|V5LD62|V5LDI3|V5LDV1|V5LE09|V5LEU3	Missense_Mutation	SNP	NULL	p.A107T	ENST00000398035.2	37	c.319	CCDS44728.1	11	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243298	0.39697	.	.	ENSG00000214290	ENST00000398035;ENST00000526216	.	.	.	5.96	-0.922	0.10468	.	0.321627	0.16731	U	0.201851	T	0.17746	0.0426	L	0.32530	0.975	0.09310	N	1	B	0.31817	0.341	B	0.19148	0.024	T	0.11251	-1.0595	9	0.25751	T	0.34	-18.7024	4.4816	0.11769	0.3909:0.3013:0.3078:0.0	.	107	A8K830	CK093_HUMAN	T	107	.	ENSP00000381115:A107T	A	+	1	0	C11orf93	110684226	0.000000	0.05858	0.028000	0.17463	0.032000	0.12392	0.140000	0.16056	0.139000	0.18822	-0.882000	0.02950	GCA	0	NULL		0.592	COLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLCA2	protein_coding	OTTHUMT00000390991.1	22	102	0	0.00	0	0	G	NM_001136105	0	0		111179016	1	no_errors	ENST00000398035	ensembl	human	known	74_37	missense	15	31	37.5	36.00	9	18	SNP	0.025	A
RNF6	6049	genome.wustl.edu	37	13	26789705	26789705	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr13:26789705G>A	ENST00000381588.4	-	5	1066	c.314C>T	c.(313-315)tCa>tTa	p.S105L	RNF6_ENST00000346166.3_Missense_Mutation_p.S105L|RNF6_ENST00000381570.3_Missense_Mutation_p.S105L|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	105					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATCTTCATGTGAACTTTCTCT	0.398																																							0											0													44.0	38.0	40.0					13																	26789705		2202	4299	6501	SO:0001583	missense	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.314C>T	13.37:g.26789705G>A	ENSP00000371000:p.Ser105Leu		B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S105L	ENST00000381588.4	37	c.314	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828187	0.90955	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.11930	2.73;2.73;2.73	4.59	4.59	0.56863	.	0.178200	0.38492	N	0.001671	T	0.30008	0.0751	M	0.71036	2.16	0.80722	D	1	D;P	0.56035	0.974;0.928	P;P	0.52957	0.707;0.714	T	0.10245	-1.0638	10	0.87932	D	0	-1.2982	17.5781	0.87957	0.0:0.0:1.0:0.0	.	105;105	Q9Y252;Q9BZP5	RNF6_HUMAN;.	L	105	ENSP00000342121:S105L;ENSP00000371000:S105L;ENSP00000370982:S105L	ENSP00000342121:S105L	S	-	2	0	RNF6	25687705	1.000000	0.71417	0.025000	0.17156	0.906000	0.53458	8.986000	0.93492	2.387000	0.81309	0.557000	0.71058	TCA	0	NULL		0.398	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	protein_coding	OTTHUMT00000044246.2	49	231	0	0.43	0	1	G	NM_005977	0	0		26789705	-1	no_errors	ENST00000346166	ensembl	human	known	74_37	missense	26	50	36.59	51.92	15	54	SNP	0.992	A
JPH3	57338	genome.wustl.edu	37	16	87723875	87723875	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr16:87723875C>T	ENST00000284262.2	+	4	2151	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	637					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGGCGCCTGCCGGGGCTTGGG	0.647																																							0											0													11.0	12.0	12.0					16																	87723875		2172	4276	6448	SO:0001583	missense	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1909C>T	16.37:g.87723875C>T	ENSP00000284262:p.Arg637Trp		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.R637W	ENST00000284262.2	37	c.1909	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793413	0.31685	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.50001	0.76	4.42	4.42	0.53409	.	0.168474	0.38217	N	0.001771	T	0.35098	0.0920	L	0.27053	0.805	0.42198	D	0.991754	B	0.09022	0.002	B	0.01281	0.0	T	0.25676	-1.0125	10	0.66056	D	0.02	.	11.9	0.52678	0.1868:0.8132:0.0:0.0	.	637	Q8WXH2	JPH3_HUMAN	W	500;637	ENSP00000284262:R637W	ENSP00000284262:R637W	R	+	1	2	JPH3	86281376	1.000000	0.71417	0.773000	0.31616	0.140000	0.21249	2.776000	0.47709	2.020000	0.59435	0.655000	0.94253	CGG	0	pirsf_Junctophilin		0.647	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	protein_coding	OTTHUMT00000269108.2	74	81	0	0.00	0	0	C		0	0		87723875	1	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	36	24	45.45	31.43	30	11	SNP	1	T
WDR18	57418	genome.wustl.edu	37	19	991253	991253	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr19:991253C>G	ENST00000251289.5	+	7	856	c.833C>G	c.(832-834)tCc>tGc	p.S278C	WDR18_ENST00000587001.2_Missense_Mutation_p.S278C	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	278					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCAGTGTCCACTGACGGC	0.662																																							0											0													48.0	33.0	38.0					19																	991253		2181	4280	6461	SO:0001583	missense	0				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.833C>G	19.37:g.991253C>G	ENSP00000251289:p.Ser278Cys		O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S278C	ENST00000251289.5	37	c.833	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539212	0.65085	.	.	ENSG00000065268	ENST00000251289	T	0.66280	-0.2	3.9	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.122777	0.56097	D	0.000024	T	0.77370	0.4120	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81226	-0.1029	10	0.87932	D	0	.	15.0418	0.71796	0.0:1.0:0.0:0.0	.	278	Q9BV38	WDR18_HUMAN	C	278	ENSP00000251289:S278C	ENSP00000251289:S278C	S	+	2	0	WDR18	942253	1.000000	0.71417	0.956000	0.39512	0.236000	0.25371	7.350000	0.79385	2.012000	0.59069	0.591000	0.81541	TCC	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.662	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	protein_coding	OTTHUMT00000458225.2	22	50	0	0.00	0	0	C		0	0		991253	1	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	13	4	45.83	55.56	11	5	SNP	1	G
PPP2R1A	5518	genome.wustl.edu	37	19	52716021	52716021	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr19:52716021C>G	ENST00000322088.6	+	5	644	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.L17V|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.L141V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	196	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGCCAAGGTGCTGGAGCTGGA	0.622			Mis		clear cell ovarian carcinoma																																		0		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	0													136.0	101.0	113.0					19																	52716021		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.586C>G	19.37:g.52716021C>G	ENSP00000324804:p.Leu196Val		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L196V	ENST00000322088.6	37	c.586	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	5.107	0.205311	0.09704	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.07021	3.23;3.23	4.5	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.47455	D	0.000230	T	0.02455	0.0075	N	0.02345	-0.59	0.45464	D	0.998437	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.36114	-0.9761	10	0.05351	T	0.99	-14.1569	6.8319	0.23915	0.0:0.7962:0.0:0.2038	.	141;196;196	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	V	186;116;196;141	ENSP00000324804:L196V;ENSP00000415067:L141V	ENSP00000324804:L196V	L	+	1	2	PPP2R1A	57407833	0.632000	0.27172	1.000000	0.80357	0.999000	0.98932	0.564000	0.23563	1.259000	0.44117	0.655000	0.94253	CTG	0	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.622	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	protein_coding	OTTHUMT00000267967.2	86	233	0	0.00	0	0	C	NM_014225	0	0		52716021	1	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	32	61	55.56	51.20	40	64	SNP	1	G
KIAA0754	643314	genome.wustl.edu	37	1	39878977	39878977	+	Missense_Mutation	SNP	A	A	G	rs783821		TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr1:39878977A>G	ENST00000530275.1	+	1	2827	c.2632A>G	c.(2632-2634)Acc>Gcc	p.T878A	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	878	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCACCTCCCCAGC	0.692																																							0											0													7.0	9.0	8.0					1																	39878977		1823	4015	5838	SO:0001583	missense	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2632A>G	1.37:g.39878977A>G	ENSP00000431179:p.Thr878Ala		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.T878A	ENST00000530275.1	37	c.2632		1	.	.	.	.	.	.	.	.	.	.	a	0.233	-1.019228	0.02078	.	.	ENSG00000255103	ENST00000530275	T	0.21734	1.99	4.23	-5.22	0.02806	.	.	.	.	.	T	0.06600	0.0169	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	9	0.28530	T	0.3	.	6.9272	0.24422	0.5061:0.0:0.3795:0.1144	rs783821	878	O94854	K0754_HUMAN	A	878	ENSP00000431179:T878A	ENSP00000431179:T878A	T	+	1	0	RP4-562N20.1	39651564	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.893000	0.04127	-0.886000	0.03966	-1.316000	0.01300	ACC	0	NULL		0.692	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	protein_coding	OTTHUMT00000392100.1	51	16	1.89	0.00	1	0	A	NM_015038	rs783821	A->G		39878977	1	no_errors	ENST00000530275	ensembl	human	known	74_37	missense	28	2	17.14	0.00	6	0	SNP	0	G
UNC93B1	81622	genome.wustl.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	rs4014596		TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																							0											1	Substitution - Missense(1)	skin(1)											2.0	2.0	2.0					11																	67759316		806	1754	2560	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	0	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		28	0	0	0.00	0	0	C	NM_030930	rs4014596	C->T		67759316	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	37	0	9.76	0.00	4	0	SNP	0.997	T
HMGN2P46	283651	genome.wustl.edu	37	15	45848140	45848140	+	lincRNA	SNP	G	G	A			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr15:45848140G>A	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGAAGTGTGTGCATTTTTGAT	0.368																																							0											0													51.0	48.0	49.0					15																	45848140		2157	4198	6355			0																															15.37:g.45848140G>A				RNA	SNP	0	NULL	ENST00000557965.1	37	NULL		15																																																																																			0	0		0.368	RP11-96O20.2-001	KNOWN	basic	lincRNA	HMGN2P46	lincRNA	OTTHUMT00000416553.1	39	3	0	0.00	0	0	G		0	0		45848140	1	no_errors	ENST00000313559	ensembl	human	known	74_37	rna	41	1	8.89	0.00	4	0	SNP	0.996	A
PLA2R1	22925	genome.wustl.edu	37	2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729																																							0											0									,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0.0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L13in_frame_del	ENST00000283243.7	37	c.39_37	CCDS33309.1	2																																																																																			0	NULL		0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	protein_coding	OTTHUMT00000333820.1	58	12	1.69	0.00	1	0	CAG		0	0		160918878	-1	no_errors	ENST00000283243	ensembl	human	known	74_37	in_frame_del	34	4	10.53	0.00	4	0	DEL	0.922:0.939:0.961	0
AC079080.1	0	genome.wustl.edu	37	4	185188532	185188533	+	RNA	INS	-	-	TG			TCGA-XM-A8RG-01A-11D-A423-09	TCGA-XM-A8RG-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9f281927-08c2-4579-a8ef-630529c92327	3e29f8d1-3f76-4aba-9614-c0c92ad67840	g.chr4:185188532_185188533insTG	ENST00000408596.1	-	0	51_52																											CAGtatgtatatgtgtgtgtgt	0.441																																							0											0																																												0																															4.37:g.185188541_185188542dupTG				RNA	INS	0	NULL	ENST00000408596.1	37	NULL		4																																																																																			0	0		0.441	AC079080.1-201	NOVEL	basic	miRNA	ENSG00000221523	miRNA		31	0	0	0.00	0	0	0		0	0		185188533	-1	no_errors	ENST00000408596	ensembl	human	novel	74_37	rna	19	0	9.52	0.00	2	0	INS	0.000:0.012	TG
