#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
DDX26B	203522	genome.wustl.edu	37	X	134713737	134713737	+	Missense_Mutation	SNP	A	A	G			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chrX:134713737A>G	ENST00000370752.4	+	15	2367	c.2033A>G	c.(2032-2034)cAt>cGt	p.H678R	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	678										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CACGATGGCCATGAGGAGAAG	0.448																																							0											0													82.0	77.0	79.0					X																	134713737		2203	4300	6503	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2033A>G	X.37:g.134713737A>G	ENSP00000359788:p.His678Arg		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.H678R	ENST00000370752.4	37	c.2033	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	A	0.268	-0.995149	0.02145	.	.	ENSG00000165359	ENST00000370752	T	0.28454	1.61	5.67	1.88	0.25563	.	0.478683	0.26183	N	0.025850	T	0.21841	0.0526	L	0.51422	1.61	0.21652	N	0.999606	B;B	0.14012	0.009;0.009	B;B	0.18263	0.021;0.017	T	0.24119	-1.0169	10	0.15952	T	0.53	0.4214	5.5035	0.16840	0.7149:0.0:0.1526:0.1325	.	678;678	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	R	678	ENSP00000359788:H678R	ENSP00000359788:H678R	H	+	2	0	DDX26B	134541403	1.000000	0.71417	0.501000	0.27601	0.079000	0.17450	3.649000	0.54417	0.324000	0.23333	0.486000	0.48141	CAT	0	NULL		0.448	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	protein_coding	OTTHUMT00000058420.1	29	68	0	0.00	0	0	A	NM_182540	0	0		134713737	1	no_errors	ENST00000370752	ensembl	human	known	74_37	missense	19	31	26.92	35.42	7	17	SNP	0.656	G
HMCN1	83872	genome.wustl.edu	37	1	186052062	186052062	+	Silent	SNP	T	T	C			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr1:186052062T>C	ENST00000271588.4	+	57	9082	c.8853T>C	c.(8851-8853)agT>agC	p.S2951S	HMCN1_ENST00000367492.2_Silent_p.S2951S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2951	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCTGGGAGTGCCAAAAAAT	0.348																																							0											0													82.0	82.0	82.0					1																	186052062		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8853T>C	1.37:g.186052062T>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.S2951	ENST00000271588.4	37	c.8853	CCDS30956.1	1																																																																																			0	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	94	283	0	0.00	0	0	T	NM_031935	0	0		186052062	1	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	98	247	16.95	18.75	20	57	SNP	1	C
DYSF	8291	genome.wustl.edu	37	2	71738996	71738996	+	Silent	SNP	G	G	A			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr2:71738996G>A	ENST00000258104.3	+	5	679	c.402G>A	c.(400-402)ccG>ccA	p.P134P	DYSF_ENST00000413539.2_Silent_p.P134P|DYSF_ENST00000409762.1_Silent_p.P134P|DYSF_ENST00000409366.1_Silent_p.P135P|DYSF_ENST00000409744.1_Silent_p.P135P|DYSF_ENST00000394120.2_Silent_p.P135P|DYSF_ENST00000409582.3_Silent_p.P134P|DYSF_ENST00000409651.1_Silent_p.P135P|DYSF_ENST00000410041.1_Silent_p.P135P|DYSF_ENST00000410020.3_Silent_p.P135P|DYSF_ENST00000429174.2_Silent_p.P134P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	134					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCTGTTCCCGCCCCCTACTC	0.672																																							0											0													53.0	40.0	44.0					2																	71738996		1981	3797	5778	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.402G>A	2.37:g.71738996G>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.P134	ENST00000258104.3	37	c.402	CCDS1918.1	2																																																																																			0	superfamily_C2_dom		0.672	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	52	69	0	0.00	0	0	G	NM_003494	0	0		71738996	1	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	37	71	26.42	8.86	14	7	SNP	0.01	A
MUC4	4585	genome.wustl.edu	37	3	195507011	195507011	+	Missense_Mutation	SNP	G	G	A	rs367569617		TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr3:195507011G>A	ENST00000463781.3	-	2	11899	c.11440C>T	c.(11440-11442)Ctt>Ttt	p.L3814F	MUC4_ENST00000475231.1_Missense_Mutation_p.L3814F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAAGGCTGGTGACA	0.597																																							0											0													7.0	6.0	6.0					3																	195507011		637	1518	2155	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11440C>T	3.37:g.195507011G>A	ENSP00000417498:p.Leu3814Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L3814F	ENST00000463781.3	37	c.11440	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	5.576	0.291077	0.10567	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33654	1.46;1.4	.	.	.	.	.	.	.	.	T	0.14527	0.0351	N	0.14661	0.345	0.19300	N	0.99998	B	0.26876	0.162	B	0.24394	0.053	T	0.16630	-1.0396	7	.	.	.	.	2.1866	0.03888	0.3322:0.3337:0.3341:0.0	.	3686	E7ESK3	.	F	3814	ENSP00000417498:L3814F;ENSP00000420243:L3814F	.	L	-	1	0	MUC4	196991790	0.002000	0.14202	0.005000	0.12908	0.005000	0.04900	1.235000	0.32671	-2.068000	0.00884	-2.092000	0.00371	CTT	0	NULL		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	40	23	0	0.00	0	0	G	NM_018406	rs367569617	G->A		195507011	-1	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	60	28	16.67	14.71	13	5	SNP	0.781	A
RWDD4	201965	genome.wustl.edu	37	4	184577088	184577088	+	Silent	SNP	A	A	T			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr4:184577088A>T	ENST00000326397.5	-	2	323	c.51T>A	c.(49-51)atT>atA	p.I17I	RWDD4_ENST00000327570.9_Silent_p.I17I|RWDD4_ENST00000512740.1_Intron|RWDD4_ENST00000510968.1_Intron|RNU6-479P_ENST00000516348.1_RNA	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	17	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						CTCCTTCATAAATAGAGCGTA	0.328																																							0											0													87.0	97.0	93.0					4																	184577088		2203	4295	6498	SO:0001819	synonymous_variant	0			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.51T>A	4.37:g.184577088A>T			B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Silent	SNP	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.I17	ENST00000326397.5	37	c.51	CCDS34111.1	4																																																																																			0	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain		0.328	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	protein_coding	OTTHUMT00000361499.2	33	120	0	0.00	0	0	A	NM_152682	0	0		184577088	-1	no_errors	ENST00000326397	ensembl	human	known	74_37	silent	41	98	26.79	24.62	15	32	SNP	1	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	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	266	126	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	317	103	16.8	20.77	64	27	SNP	1	A
PCLO	27445	genome.wustl.edu	37	7	82578982	82578982	+	Missense_Mutation	SNP	A	A	T			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr7:82578982A>T	ENST00000333891.9	-	6	11259	c.10922T>A	c.(10921-10923)gTa>gAa	p.V3641E	PCLO_ENST00000423517.2_Missense_Mutation_p.V3641E|PCLO_ENST00000437081.1_Missense_Mutation_p.V361E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCATAAGGTACAAAGGCTGA	0.483																																							0											0													154.0	151.0	152.0					7																	82578982		1949	4141	6090	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10922T>A	7.37:g.82578982A>T	ENSP00000334319:p.Val3641Glu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V3641E	ENST00000333891.9	37	c.10922	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830275	0.50845	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17691	2.27;2.26	5.61	5.61	0.85477	.	.	.	.	.	T	0.38026	0.1025	L	0.54323	1.7	0.45704	D	0.998615	D;D;D	0.89917	0.984;1.0;1.0	P;D;D	0.72625	0.77;0.978;0.978	T	0.11842	-1.0571	9	0.87932	D	0	.	15.8092	0.78543	1.0:0.0:0.0:0.0	.	3572;3641;3641	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3572;3641;3641;361	ENSP00000334319:V3641E;ENSP00000388393:V3641E	ENSP00000334319:V3641E	V	-	2	0	PCLO	82416918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.280000	0.89903	2.134000	0.65973	0.528000	0.53228	GTA	0	NULL		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	75	160	1.3	0.00	1	0	A	NM_014510	0	0		82578982	-1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	87	157	21.62	25.82	24	55	SNP	1	T
ATP12A	479	genome.wustl.edu	37	13	25274967	25274967	+	Silent	SNP	C	C	A			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr13:25274967C>A	ENST00000381946.3	+	13	1955	c.1788C>A	c.(1786-1788)tcC>tcA	p.S596S	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Silent_p.S602S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	596					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTCCGACCTCCAACCTCTGTT	0.498																																					Pancreas(156;1582 1935 18898 22665 26498)		0											0													158.0	143.0	148.0					13																	25274967		2203	4300	6503	SO:0001819	synonymous_variant	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1788C>A	13.37:g.25274967C>A			Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.S602	ENST00000381946.3	37	c.1806	CCDS31948.1	13																																																																																			0	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC		0.498	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	protein_coding	OTTHUMT00000044199.1	41	243	0	0.00	0	0	C	NM_001676	0	0		25274967	1	no_errors	ENST00000218548	ensembl	human	known	74_37	silent	52	178	22.39	22.17	15	51	SNP	0.504	A
MYO1E	4643	genome.wustl.edu	37	15	59523988	59523988	+	Silent	SNP	G	G	A			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr15:59523988G>A	ENST00000288235.4	-	6	822	c.423C>T	c.(421-423)caC>caT	p.H141H	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	141	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGTCCTTCACGTGCTGTCCCA	0.522																																							0											0													100.0	87.0	91.0					15																	59523988		2190	4290	6480	SO:0001819	synonymous_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.423C>T	15.37:g.59523988G>A			Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,prints_Myosin_head_motor_dom	p.T112M	ENST00000288235.4	37	c.335	CCDS32254.1	15																																																																																			0	prints_Myosin_head_motor_dom		0.522	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	protein_coding	OTTHUMT00000416024.1	54	175	0	0.00	0	0	G	NM_004998	0	0		59523988	-1	no_errors	ENST00000558571	ensembl	human	known	74_37	missense	48	122	21.31	28.24	13	48	SNP	0.982	A
TSC2	7249	genome.wustl.edu	37	16	2126081	2126081	+	Nonsense_Mutation	SNP	C	C	G	rs45489200		TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr16:2126081C>G	ENST00000219476.3	+	24	3282	c.2652C>G	c.(2650-2652)taC>taG	p.Y884*	TSC2_ENST00000350773.4_Nonsense_Mutation_p.Y884*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Y847*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.Y884*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Y895*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Y835*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Y884*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	884					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTAATCAGTACATCGTGTGTC	0.557			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														0	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													112.0	95.0	101.0					16																	2126081		2198	4299	6497	SO:0001587	stop_gained	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2652C>G	16.37:g.2126081C>G	ENSP00000219476:p.Tyr884*		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.Y884*	ENST00000219476.3	37	c.2652	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	41	8.760200	0.98943	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	5.09	0.29	0.15728	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.0501	11.5577	0.50759	0.0:0.7077:0.0:0.2922	.	.	.	.	X	884;884;884;847;835;884	.	ENSP00000219476:Y884X	Y	+	3	2	TSC2	2066082	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	0.867000	0.27968	0.179000	0.19938	-0.254000	0.11334	TAC	0	pfam_Tuberin-type_domain,prints_Tuberin		0.557	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	protein_coding	OTTHUMT00000250657.2	71	201	0	0.00	0	0	C	NM_000548	0	0		2126081	1	no_errors	ENST00000219476	ensembl	human	known	74_37	nonsense	60	170	7.69	6.08	5	11	SNP	1	G
MYH13	8735	genome.wustl.edu	37	17	10248531	10248531	+	Silent	SNP	C	C	T			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr17:10248531C>T	ENST00000418404.3	-	14	1735	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	MYH13_ENST00000252172.4_Silent_p.E524E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	524	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCGATGAGCTCGATGCAGG	0.537																																							0											0													160.0	143.0	149.0					17																	10248531		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1572G>A	17.37:g.10248531C>T			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E524	ENST00000418404.3	37	c.1572	CCDS45613.1	17																																																																																			0	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	85	68	0	0.00	0	0	C	NM_003802	0	0		10248531	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	silent	82	62	21.9	27.91	23	24	SNP	1	T
IRX6	79190	genome.wustl.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	GAG	GAG	GAG	-	GAG	GAG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																							0											0																																										SO:0001651	inframe_deletion	0			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del		B2RN06|Q7Z2K0	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E265in_frame_del	ENST00000290552.7	37	c.784_786	CCDS32449.1	16																																																																																			0	NULL		0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	protein_coding	OTTHUMT00000417445.4	39	61	0	1.61	0	1	GAG	NM_024335	0	0		55362676	1	no_errors	ENST00000290552	ensembl	human	known	74_37	in_frame_del	47	80	7.84	4.76	4	4	DEL	0.987:0.988:0.993	0
HLA-DRB1	3123	genome.wustl.edu	37	6	32551958	32551959	+	Frame_Shift_Ins	INS	-	-	TT	rs17879599|rs1064592|rs568948309|rs200320734	byFrequency	TCGA-X7-A8M1-01A-11D-A423-09	TCGA-X7-A8M1-10A-01D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	205b2fb9-9ae3-4bb5-88a3-572f6d748640	af3ecfe9-d472-4379-8b78-2d057a1867af	g.chr6:32551958_32551959insTT	ENST00000360004.5	-	2	402_403	c.297_298insAA	c.(295-300)caggcgfs	p.A100fs		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	100	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCGGCCCGCGCCTGCTCCAGGA	0.683										Multiple Myeloma(14;0.17)																													0											0																																										SO:0001589	frameshift_variant	0			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.297_298insAA	6.37:g.32551958_32551959insTT	ENSP00000353099:p.Ala100fs		P01914|Q9MYF5	Frame_Shift_Ins	INS	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A99fs	ENST00000360004.5	37	c.298_297	CCDS47409.1	6																																																																																			0	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.683	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	protein_coding	OTTHUMT00000076393.3	12	2	0	0.00	0	0	0	NM_002124	rs200320734	C->CTT		32551959	-1	no_errors	ENST00000360004	ensembl	human	known	74_37	frame_shift_ins	9	3	40	0.00	6	0	INS	0.000:0.000	TT
