#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	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_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
NPY	4852	hgsc.bcm.edu	37	7	24331300	24331300	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr7:24331300G>A	ENST00000407573.1	+	5	578	c.288G>A	c.(286-288)atG>atA	p.M96I	NPY_ENST00000242152.2_Missense_Mutation_p.M96I|NPY_ENST00000405982.1_Missense_Mutation_p.M96I			P01303	NPY_HUMAN	neuropeptide Y	96					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.M96I(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ACCCTGCAATGTGGTGATGGG	0.448																																					p.M96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G288A	7						.						233.0	195.0	208.0					7																	24331300		2203	4300	6503	24297825	SO:0001583	missense	4852	exon4			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.288G>A	7.37:g.24331300G>A	ENSP00000384364:p.Met96Ile		24297825	NM_000905		Missense_Mutation	SNP	ENST00000407573.1	37	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955481	0.53293	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.11169	2.8;2.8;2.8	4.99	4.99	0.66335	.	0.348087	0.33854	N	0.004481	T	0.12774	0.0310	.	.	.	0.50632	D	0.999881	B	0.19445	0.036	B	0.15052	0.012	T	0.05419	-1.0886	9	0.56958	D	0.05	-7.0757	19.1499	0.93483	0.0:0.0:1.0:0.0	.	96	P01303	NPY_HUMAN	I	96	ENSP00000242152:M96I;ENSP00000384364:M96I;ENSP00000385282:M96I	ENSP00000242152:M96I	M	+	3	0	NPY	24297825	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.165000	0.77544	2.702000	0.92279	0.591000	0.81541	ATG		0.448	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905	
TMEM248	55069	hgsc.bcm.edu	37	7	66406936	66406936	+	Silent	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr7:66406936C>T	ENST00000341567.4	+	2	339	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	28						integral component of membrane (GO:0016021)		p.S28S(1)									TCAGCGTAAGCGCCATGGCCA	0.502																																					p.S28S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	7						.						132.0	114.0	120.0					7																	66406936		2203	4300	6503	66044371	SO:0001819	synonymous_variant	55069	exon2				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.84C>T	7.37:g.66406936C>T			66044371	NM_017994	Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	CCDS5536.1																																																																																				0.502	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994	
CALN1	83698	hgsc.bcm.edu	37	7	71743767	71743767	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr7:71743767C>T	ENST00000329008.5	-	2	320	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	CALN1_ENST00000395275.2_Missense_Mutation_p.A50T|CALN1_ENST00000431984.1_Missense_Mutation_p.A8T|CALN1_ENST00000412588.1_Missense_Mutation_p.A50T|CALN1_ENST00000405452.2_Missense_Mutation_p.A8T|CALN1_ENST00000395276.2_Missense_Mutation_p.A8T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.A8T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AACAAGCCGGCGGTCACATGG	0.502																																					p.A50T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148A	7						.						82.0	61.0	68.0					7																	71743767		2203	4300	6503	71381703	SO:0001583	missense	83698	exon3			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.22G>A	7.37:g.71743767C>T	ENSP00000332498:p.Ala8Thr		71381703	NM_031468	J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204046	0.95033	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.74106	-0.4;-0.54;-0.4;-0.4;-0.54;-0.4;-0.81	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	N	0.24115	0.695	0.50313	D	0.999863	P;P	0.37688	0.605;0.605	B;B	0.22753	0.041;0.041	T	0.66740	-0.5847	10	0.87932	D	0	-4.0026	19.3475	0.94370	0.0:1.0:0.0:0.0	.	8;8	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	8;50;8;8;50;8;8	ENSP00000332498:A8T;ENSP00000378690:A50T;ENSP00000378691:A8T;ENSP00000410704:A8T;ENSP00000391882:A50T;ENSP00000384354:A8T;ENSP00000411806:A8T	ENSP00000332498:A8T	A	-	1	0	CALN1	71381703	1.000000	0.71417	0.759000	0.31340	0.984000	0.73092	7.413000	0.80104	2.816000	0.96949	0.563000	0.77884	GCC		0.502	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
TRIM24	8805	hgsc.bcm.edu	37	7	138200067	138200067	+	Silent	SNP	A	A	G			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr7:138200067A>G	ENST00000343526.4	+	3	809	c.594A>G	c.(592-594)aaA>aaG	p.K198K	TRIM24_ENST00000415680.2_Silent_p.K198K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	198					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K198K(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGTTCACAAAAGACCACACTG	0.433																																					p.K198K	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A594G	7						.						136.0	125.0	129.0					7																	138200067		2203	4300	6503	137850607	SO:0001819	synonymous_variant	8805	exon3			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.594A>G	7.37:g.138200067A>G			137850607	NM_003852	A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	CCDS5847.1																																																																																				0.433	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
RBBP8NL	140893	hgsc.bcm.edu	37	20	60992296	60992296	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr20:60992296G>A	ENST00000252998.1	-	4	340	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	62						extracellular space (GO:0005615)		p.R62W(1)									TCCAGCACCCGCAGGTTCTCC	0.612																																					p.R62W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C184T	20						.						98.0	69.0	79.0					20																	60992296		2202	4296	6498	60425691	SO:0001583	missense	140893	exon4			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.184C>T	20.37:g.60992296G>A	ENSP00000252998:p.Arg62Trp		60425691	NM_080833	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775867	0.70107	.	.	ENSG00000130701	ENST00000252998	T	0.20881	2.04	4.54	2.14	0.27477	Tumour-suppressor protein CtIP N-terminal (1);	0.193749	0.41938	D	0.000798	T	0.37705	0.1013	L	0.54323	1.7	0.37382	D	0.912065	D	0.89917	1.0	D	0.85130	0.997	T	0.42447	-0.9451	10	0.87932	D	0	-27.0298	10.7743	0.46340	0.0:0.0:0.3752:0.6248	.	62	Q8NC74	CT151_HUMAN	W	62	ENSP00000252998:R62W	ENSP00000252998:R62W	R	-	1	2	C20orf151	60425691	0.230000	0.23740	0.998000	0.56505	0.805000	0.45488	1.552000	0.36244	0.998000	0.38996	0.561000	0.74099	CGG		0.612	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833	
SLC39A2	29986	hgsc.bcm.edu	37	14	21469106	21469106	+	Splice_Site	SNP	A	A	G			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr14:21469106A>G	ENST00000298681.4	+	4	455	c.298A>G	c.(298-300)Atg>Gtg	p.M100V	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	100					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.M100V(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTGTTTCTAGATGGAGTATCC	0.468																																					p.M100V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A298G	14						.						356.0	370.0	365.0					14																	21469106		2203	4300	6503	20538946	SO:0001630	splice_region_variant	29986	exon4			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.298-1A>G	14.37:g.21469106A>G			20538946	NM_014579	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	A	4.426	0.078770	0.08533	.	.	ENSG00000165794	ENST00000298681	T	0.07216	3.21	5.7	-3.79	0.04320	.	0.801903	0.12421	N	0.470412	T	0.02156	0.0067	N	0.00483	-1.445	0.22858	N	0.998646	B	0.02656	0.0	B	0.04013	0.001	T	0.46205	-0.9208	9	.	.	.	0.3638	15.4086	0.74900	0.2893:0.0:0.7107:0.0	.	100	Q9NP94	S39A2_HUMAN	V	100	ENSP00000298681:M100V	.	M	+	1	0	SLC39A2	20538946	0.002000	0.14202	0.185000	0.23176	0.733000	0.41908	-0.515000	0.06290	-0.669000	0.05289	-0.250000	0.11733	ATG		0.468	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579	Missense_Mutation
CECR1	51816	hgsc.bcm.edu	37	22	17663506	17663506	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr22:17663506G>A	ENST00000399839.1	-	8	1497	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	CECR1_ENST00000399837.2_Silent_p.P409P|CECR1_ENST00000262607.3_Silent_p.P409P|CECR1_ENST00000330232.4_Silent_p.P168P|CECR1_ENST00000449907.2_Silent_p.P367P	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	409					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.P409P(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGTTAGAGATGGGACAGACTT	0.463																																					p.P168P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	22						.						191.0	183.0	186.0					22																	17663506		2203	4300	6503	16043506	SO:0001819	synonymous_variant	51816	exon5			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1227C>T	22.37:g.17663506G>A			16043506	NM_177405	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	CCDS13742.1																																																																																				0.463	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1		
PISD	23761	hgsc.bcm.edu	37	22	32016634	32016634	+	Missense_Mutation	SNP	G	G	A	rs370672474		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr22:32016634G>A	ENST00000439502.2	-	7	1133	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	PISD_ENST00000266095.5_Missense_Mutation_p.R270W|PISD_ENST00000382151.2_Missense_Mutation_p.R270W|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Intron|PISD_ENST00000336566.4_Missense_Mutation_p.R303W			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	304					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.R270W(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	AGGACCACCCGCTCGTTATGG	0.592																																					p.R270W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C808T	22						.	G	TRP/ARG	0,4406		0,0,2203	125.0	106.0	112.0		808	4.6	1.0	22		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	PISD	NM_014338.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	270/376	32016634	1,13005	2203	4300	6503	30346634	SO:0001583	missense	23761	exon8				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.910C>T	22.37:g.32016634G>A	ENSP00000391739:p.Arg304Trp		30346634	NM_014338	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	G	27.0	4.790115	0.90367	0.0	1.16E-4	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000439502;ENST00000336566;ENST00000451635	.	.	.	5.6	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.90307	0.6968	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93664	0.6984	9	0.87932	D	0	-24.5755	15.0179	0.71600	0.0:0.0:0.8575:0.1425	.	304;270	Q9UG56;Q9UG56-2	PISD_HUMAN;.	W	270;270;304;303;270	.	ENSP00000266095:R270W	R	-	1	2	PISD	30346634	1.000000	0.71417	0.982000	0.44146	0.800000	0.45204	7.532000	0.81985	2.645000	0.89757	0.467000	0.42956	CGG		0.592	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
TBCB	1155	hgsc.bcm.edu	37	19	36616654	36616654	+	Silent	SNP	G	G	A	rs141544940	byFrequency	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr19:36616654G>A	ENST00000221855.3	+	6	1280	c.705G>A	c.(703-705)ccG>ccA	p.P235P	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Silent_p.P184P	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	235					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.P235P(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGACTTCCCGGAGGAGGACT	0.572													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17610	0.0		0.0	False		,,,				2504	0.0				p.P235P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G705A	19						.	G		1,4405	2.1+/-5.4	0,1,2202	181.0	174.0	177.0		705	-9.6	0.5	19	dbSNP_134	177	0,8600		0,0,4300	no	coding-synonymous	TBCB	NM_001281.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		235/245	36616654	1,13005	2203	4300	6503	41308494	SO:0001819	synonymous_variant	1155	exon6			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"""cytoskeleton-associated protein 1"", ""cytoskeleton associated protein 1"""	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.705G>A	19.37:g.36616654G>A			41308494	NM_001281	O00111|O00674|O14728|Q6FGY5	Silent	SNP	ENST00000221855.3	37	CCDS12488.1																																																																																				0.572	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281	
ZNF420	147923	hgsc.bcm.edu	37	19	37619341	37619341	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr19:37619341C>A	ENST00000337995.3	+	5	1663	c.1448C>A	c.(1447-1449)tCt>tAt	p.S483Y	ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S483Y(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAATCTTTTATTCGT	0.393																																					p.S483Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1448A	19						.						72.0	65.0	67.0					19																	37619341		2203	4300	6503	42311181	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1448C>A	19.37:g.37619341C>A	ENSP00000338770:p.Ser483Tyr		42311181	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522812	0.27211	.	.	ENSG00000197050	ENST00000337995	T	0.08370	3.1	3.51	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23492	0.0568	M	0.76838	2.35	0.09310	N	0.999999	D	0.89917	1.0	D	0.69307	0.963	T	0.03608	-1.1020	8	.	.	.	.	5.8512	0.18694	0.0:0.5542:0.3297:0.1161	.	483	Q8TAQ5	ZN420_HUMAN	Y	483	ENSP00000338770:S483Y	.	S	+	2	0	ZNF420	42311181	0.000000	0.05858	0.961000	0.40146	0.791000	0.44710	0.060000	0.14342	1.813000	0.52934	0.591000	0.81541	TCT		0.393	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
IRF3	3661	hgsc.bcm.edu	37	19	50166666	50166666	+	Missense_Mutation	SNP	G	G	A	rs377410193		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr19:50166666G>A	ENST00000597198.1	-	3	652	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	IRF3_ENST00000377139.3_Missense_Mutation_p.R91C|IRF3_ENST00000596765.1_Intron|BCL2L12_ENST00000441864.2_5'Flank|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R91C|IRF3_ENST00000600911.1_Missense_Mutation_p.R91C|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000309877.7_Missense_Mutation_p.R91C|IRF3_ENST00000601291.1_Missense_Mutation_p.R91C|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R91C|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000598808.1_5'UTR			Q14653	IRF3_HUMAN	interferon regulatory factor 3	91					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R91C(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TCTGCTAAACGCAACCCTTCT	0.577																																					p.R56C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	19						.						73.0	66.0	68.0					19																	50166666		2203	4300	6503	54858478	SO:0001583	missense	3661	exon3				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.271C>T	19.37:g.50166666G>A	ENSP00000469113:p.Arg91Cys		54858478	NM_001197123	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	G	2.853	-0.237954	0.05944	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.98060	-4.69;-4.69;-4.69	4.92	2.76	0.32466	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	1.091900	0.06928	N	0.810588	D	0.95868	0.8655	L	0.60455	1.87	0.09310	N	0.999999	B;B;B;B;B	0.27791	0.189;0.019;0.019;0.128;0.002	B;B;B;B;B	0.24541	0.054;0.011;0.011;0.016;0.0	D	0.88983	0.3409	10	0.56958	D	0.05	-1.8841	7.3101	0.26469	0.1639:0.0:0.6989:0.1372	.	91;91;91;91;91	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	C	91	ENSP00000366344:R91C;ENSP00000310127:R91C;ENSP00000366339:R91C	ENSP00000310127:R91C	R	-	1	0	IRF3	54858478	0.045000	0.20229	0.008000	0.14137	0.001000	0.01503	1.801000	0.38843	0.232000	0.21100	-0.797000	0.03246	CGT		0.577	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571	
ZNF211	10520	hgsc.bcm.edu	37	19	58153449	58153449	+	Missense_Mutation	SNP	C	C	T	rs149154202		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr19:58153449C>T	ENST00000347302.3	+	3	1774	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	ZNF211_ENST00000391703.3_Missense_Mutation_p.T471M|ZNF211_ENST00000541801.1_Missense_Mutation_p.T523M|ZNF211_ENST00000299871.5_Missense_Mutation_p.T597M|ZNF211_ENST00000544273.1_Missense_Mutation_p.T544M|ZNF211_ENST00000420680.1_Missense_Mutation_p.T536M|ZNF211_ENST00000240731.4_Missense_Mutation_p.T545M|ZNF211_ENST00000254182.7_Missense_Mutation_p.T523M	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T545M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGTTCACACGGGAAAAAGG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		21278	0.0		0.001	False		,,,				2504	0.0				p.T532M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1595T	19						.	C	MET/THR,MET/THR	0,4406		0,0,2203	104.0	101.0	102.0		1634,1595	-0.3	0.1	19	dbSNP_134	102	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	ZNF211	NM_006385.3,NM_198855.2	81,81	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging,probably-damaging	545/578,532/565	58153449	6,13000	2203	4300	6503	62845261	SO:0001583	missense	10520	exon3			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1595C>T	19.37:g.58153449C>T	ENSP00000339562:p.Thr532Met		62845261	NM_198855	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	24.5	4.533225	0.85812	0.0	6.98E-4	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	3.23	-0.353	0.12594	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39733	0.1089	M	0.64404	1.975	0.27417	N	0.954402	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;P;D;D;D	0.72982	0.919;0.919;0.847;0.979;0.952;0.952	T	0.23619	-1.0183	9	0.87932	D	0	.	3.7567	0.08588	0.1672:0.5713:0.1623:0.0993	.	536;544;597;523;532;545	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	M	536;532;523;471;523;597;544;545	ENSP00000399193:T536M;ENSP00000339562:T532M;ENSP00000254182:T523M;ENSP00000375584:T471M;ENSP00000442601:T523M;ENSP00000299871:T597M;ENSP00000441386:T544M;ENSP00000240731:T545M	ENSP00000240731:T545M	T	+	2	0	ZNF211	62845261	0.001000	0.12720	0.087000	0.20705	0.961000	0.63080	-0.016000	0.12613	-0.078000	0.12730	0.585000	0.79938	ACG		0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
NTNG1	22854	hgsc.bcm.edu	37	1	107867346	107867346	+	Missense_Mutation	SNP	C	C	T	rs386352339		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:107867346C>T	ENST00000370068.1	+	3	1535	c.689C>T	c.(688-690)gCg>gTg	p.A230V	NTNG1_ENST00000370074.4_Missense_Mutation_p.A230V|NTNG1_ENST00000370067.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370073.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370070.2_Missense_Mutation_p.A230V|NTNG1_ENST00000542803.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370066.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370061.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370071.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370072.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370065.1_Missense_Mutation_p.A230V|NTNG1_ENST00000477948.1_3'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1	230	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.A230V(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GACAGGTTCGCGTTTTTTGCT	0.428																																					p.A230V												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.C689T	1						.						97.0	93.0	95.0					1																	107867346		2203	4300	6503	107668869	SO:0001583	missense	22854	exon3			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.689C>T	1.37:g.107867346C>T	ENSP00000359085:p.Ala230Val		107668869	NM_001113228	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857515	0.91433	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.75050	0.68;-0.48;0.63;0.02;-0.03;-0.66;-0.9;0.68;-0.66;-0.48;0.05	6.05	6.05	0.98169	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000011	D	0.85801	0.5781	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;P	0.91635	0.998;0.999;0.72;0.981;0.896	D	0.84823	0.0797	10	0.56958	D	0.05	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	230;230;230;230;230	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	V	230	ENSP00000359090:A230V;ENSP00000359088:A230V;ENSP00000440561:A230V;ENSP00000359078:A230V;ENSP00000359089:A230V;ENSP00000359087:A230V;ENSP00000359091:A230V;ENSP00000359085:A230V;ENSP00000359084:A230V;ENSP00000359083:A230V;ENSP00000359082:A230V	ENSP00000294649:A230V	A	+	2	0	NTNG1	107668869	1.000000	0.71417	0.096000	0.21009	0.994000	0.84299	7.818000	0.86416	2.880000	0.98712	0.655000	0.94253	GCG		0.428	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
IL6R	3570	hgsc.bcm.edu	37	1	154401730	154401730	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:154401730G>A	ENST00000368485.3	+	2	581	c.144G>A	c.(142-144)ccG>ccA	p.P48P	IL6R_ENST00000344086.4_Silent_p.P48P	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.P48P(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TGACCTGCCCGGGGGTAGAGC	0.642																																					p.P48P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G144A	1						.						70.0	69.0	69.0					1																	154401730		2203	4300	6503	152668354	SO:0001819	synonymous_variant	3570	exon2			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.144G>A	1.37:g.154401730G>A			152668354	NM_181359	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Silent	SNP	ENST00000368485.3	37	CCDS1067.1																																																																																				0.642	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565	
CD1A	909	hgsc.bcm.edu	37	1	158227281	158227281	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:158227281G>A	ENST00000289429.5	+	5	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.A318A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458																																					p.A318A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G954A	1						.						392.0	362.0	372.0					1																	158227281		2203	4300	6503	156493905	SO:0001819	synonymous_variant	909	exon5			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.954G>A	1.37:g.158227281G>A			156493905	NM_001763	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	CCDS1174.1																																																																																				0.458	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763	
OR6N2	81442	hgsc.bcm.edu	37	1	158746687	158746687	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:158746687C>A	ENST00000339258.1	-	1	738	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V247L(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATGAGGACCACAGCAAGATGT	0.443																																					p.V247L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739T	1						.						84.0	84.0	84.0					1																	158746687		2203	4300	6503	157013311	SO:0001583	missense	81442	exon1			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.739G>T	1.37:g.158746687C>A	ENSP00000344101:p.Val247Leu		157013311	NM_001005278	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604909	0.46423	.	.	ENSG00000188340	ENST00000339258	T	0.00216	8.53	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	N	0.003651	T	0.00384	0.0012	M	0.91090	3.175	0.30609	N	0.759716	D	0.89917	1.0	D	0.87578	0.998	T	0.06320	-1.0833	10	0.87932	D	0	-14.1841	12.024	0.53360	0.173:0.827:0.0:0.0	.	247	Q8NGY6	OR6N2_HUMAN	L	247	ENSP00000344101:V247L	ENSP00000344101:V247L	V	-	1	0	OR6N2	157013311	0.243000	0.23878	1.000000	0.80357	0.333000	0.28666	1.997000	0.40786	2.500000	0.84329	0.650000	0.86243	GTG		0.443	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
HIVEP3	59269	hgsc.bcm.edu	37	1	41984117	41984117	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:41984117T>A	ENST00000372583.1	-	7	6311	c.5426A>T	c.(5425-5427)aAg>aTg	p.K1809M	HIVEP3_ENST00000429157.2_Missense_Mutation_p.K1809M|HIVEP3_ENST00000372584.1_Missense_Mutation_p.K1809M|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.K1809M	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1809					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1809M(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCTTGGCACTTTTTGCTGTG	0.547																																					p.K1809M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5426T	1						.						163.0	139.0	147.0					1																	41984117		2203	4300	6503	41756704	SO:0001583	missense	59269	exon7			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5426A>T	1.37:g.41984117T>A	ENSP00000361664:p.Lys1809Met		41756704	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704336	0.88924	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	3.81	3.81	0.43845	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000347	T	0.25975	0.0633	M	0.69358	2.11	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.60415	0.874;0.751	T	0.02214	-1.1194	10	0.87932	D	0	-6.1405	12.4024	0.55420	0.0:0.0:0.0:1.0	.	1809;1809	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	M	1809	ENSP00000361665:K1809M;ENSP00000361664:K1809M;ENSP00000247584:K1809M;ENSP00000410828:K1809M	ENSP00000247584:K1809M	K	-	2	0	HIVEP3	41756704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.577000	0.82486	1.593000	0.50029	0.533000	0.62120	AAG		0.547	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
LRP8	7804	hgsc.bcm.edu	37	1	53729868	53729868	+	Missense_Mutation	SNP	C	C	G	rs202186923		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:53729868C>G	ENST00000306052.6	-	10	1729	c.1628G>C	c.(1627-1629)cGg>cCg	p.R543P	LRP8_ENST00000371454.2_Missense_Mutation_p.R543P|LRP8_ENST00000347547.2_Missense_Mutation_p.R373P|LRP8_ENST00000354412.3_Missense_Mutation_p.R414P|LRP8_ENST00000465675.1_Missense_Mutation_p.R96P|LRP8_ENST00000460214.1_5'Flank	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	543					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R543Q(1)|p.R543P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						AGCGATGGCCCGGGGTTCACT	0.572																																					p.R414P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1241C	1						.						65.0	64.0	64.0					1																	53729868		2203	4300	6503	53502456	SO:0001583	missense	7804	exon9			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1628G>C	1.37:g.53729868C>G	ENSP00000303634:p.Arg543Pro		53502456	NM_017522	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.275732|5.275732	0.95459|0.95459	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	.|D;D;D;D;D	.|0.96745	.|-4.11;-4.11;-4.11;-4.11;-4.11	5.02|5.02	5.02|5.02	0.67125|0.67125	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|.	.|.	.|.	.|.	D|D	0.98807|0.98807	0.9598|0.9598	H|H	0.96175|0.96175	3.78|3.78	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;1.0;0.99;0.997;1.0	D|D	0.99505|0.99505	1.0954|1.0954	5|9	.|0.72032	.|D	.|0.01	.|.	18.5321|18.5321	0.90996|0.90996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|96;414;373;543;543;96	.|B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.|.;.;.;.;LRP8_HUMAN;.	R|P	232|543;543;96;414;373	.|ENSP00000303634:R543P;ENSP00000360509:R543P;ENSP00000437009:R96P;ENSP00000346391:R414P;ENSP00000334522:R373P	.|ENSP00000303634:R543P	G|R	-|-	1|2	0|0	LRP8|LRP8	53502456|53502456	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.925000|5.925000	0.70062|0.70062	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.572	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631	
CLCA2	9635	hgsc.bcm.edu	37	1	86919148	86919148	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:86919148C>T	ENST00000370565.4	+	13	2414	c.2252C>T	c.(2251-2253)tCa>tTa	p.S751L	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	751					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.S751L(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGCTCCTTTTCAGTGCTGGGA	0.483																																					p.S751L	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2252T	1						.						85.0	87.0	86.0					1																	86919148		2203	4300	6503	86691736	SO:0001583	missense	9635	exon13				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2252C>T	1.37:g.86919148C>T	ENSP00000359596:p.Ser751Leu		86691736	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276622	0.40294	.	.	ENSG00000137975	ENST00000370565	T	0.03035	4.07	5.72	2.68	0.31781	.	0.471865	0.21120	N	0.079833	T	0.01558	0.0050	M	0.73962	2.25	0.21652	N	0.999605	B	0.09022	0.002	B	0.08055	0.003	T	0.44390	-0.9331	10	0.25106	T	0.35	-7.1265	4.9091	0.13812	0.1399:0.5731:0.0:0.2871	.	751	Q9UQC9	CLCA2_HUMAN	L	751	ENSP00000359596:S751L	ENSP00000359596:S751L	S	+	2	0	CLCA2	86691736	0.044000	0.20184	0.933000	0.37362	0.966000	0.64601	0.396000	0.20867	0.898000	0.36418	0.650000	0.86243	TCA		0.483	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
HIST3H2BB	128312	hgsc.bcm.edu	37	1	228645870	228645870	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:228645870G>A	ENST00000369160.2	+	1	63	c.40G>A	c.(40-42)Ggt>Agt	p.G14S	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	14					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G14S(1)		skin(1)	1		Prostate(94;0.183)				GCCCAAGAAGGGTTCTAAAAA	0.537																																					p.G14S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G40A	1						.						71.0	74.0	73.0					1																	228645870		2203	4300	6503	226712493	SO:0001583	missense	128312	exon1			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.40G>A	1.37:g.228645870G>A	ENSP00000375736:p.Gly14Ser		226712493	NM_175055	A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.347492	0.61183	.	.	ENSG00000196890	ENST00000369160	T	0.22336	1.96	3.98	3.07	0.35406	Histone-fold (2);	0.000000	0.48286	D	0.000199	T	0.40956	0.1138	M	0.66378	2.025	0.43907	D	0.99654	D	0.76494	0.999	D	0.87578	0.998	T	0.30909	-0.9962	10	0.87932	D	0	.	9.9417	0.41585	0.1017:0.0:0.8983:0.0	.	14	Q8N257	H2B3B_HUMAN	S	14	ENSP00000375736:G14S	ENSP00000375736:G14S	G	+	1	0	HIST3H2BB	226712493	1.000000	0.71417	0.702000	0.30337	0.097000	0.18754	9.011000	0.93618	1.256000	0.44068	0.591000	0.81541	GGT		0.537	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055	
OR56A1	120796	hgsc.bcm.edu	37	11	6048641	6048641	+	Silent	SNP	C	C	T	rs368602860		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr11:6048641C>T	ENST00000316650.5	-	1	330	c.294G>A	c.(292-294)tcG>tcA	p.S98S		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S98S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAAGCTGATCGACCTAAGAT	0.547																																					p.S98S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	11						.	C		0,4402		0,0,2201	111.0	98.0	102.0		294	-2.0	0.0	11		102	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR56A1	NM_001001917.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		98/319	6048641	1,12993	2201	4296	6497	6005217	SO:0001819	synonymous_variant	120796	exon1			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.294G>A	11.37:g.6048641C>T			6005217	NM_001001917	B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	CCDS31405.1																																																																																				0.547	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
SLC22A6	9356	hgsc.bcm.edu	37	11	62749369	62749369	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr11:62749369G>A	ENST00000377871.3	-	4	1008	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R248C|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R248C|SLC22A6_ENST00000458333.2_Missense_Mutation_p.R248C	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	248					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R248C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGCAGGTGGCGCCAGTGGGGC	0.617																																					p.R248C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C742T	11						.						62.0	54.0	56.0					11																	62749369		2201	4298	6499	62505945	SO:0001583	missense	9356	exon4			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.742C>T	11.37:g.62749369G>A	ENSP00000367102:p.Arg248Cys		62505945	NM_004790	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924218	0.73213	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.21	4.3	0.51218	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052199	0.64402	D	0.000001	D	0.84857	0.5565	H	0.95187	3.635	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.72338	0.961;0.977;0.969;0.947	D	0.87073	0.2161	10	0.66056	D	0.02	.	9.4909	0.38960	0.0951:0.0:0.9049:0.0	.	248;248;248;248	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	C	248;227;248;248;248	ENSP00000353597:R248C;ENSP00000367102:R248C;ENSP00000396401:R248C;ENSP00000404441:R248C	ENSP00000353597:R248C	R	-	1	0	SLC22A6	62505945	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.902000	0.63266	1.433000	0.47394	0.491000	0.48974	CGC		0.617	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790	
CBL	867	hgsc.bcm.edu	37	11	119148968	119148968	+	Silent	SNP	T	T	C			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr11:119148968T>C	ENST00000264033.4	+	8	1564	c.1188T>C	c.(1186-1188)tgT>tgC	p.C396C		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	396	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.C396C(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTGAGCCCTGTGGACACCTCA	0.383			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.C396C			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	CBL,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,+1	.	16	Deletion - In frame(15)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(15)|large_intestine(1)	c.T1188C	11						.						128.0	119.0	122.0					11																	119148968		2199	4295	6494	118654178	SO:0001819	synonymous_variant	867	exon8	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1188T>C	11.37:g.119148968T>C			118654178	NM_005188	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																				0.383	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
PKHD1	5314	hgsc.bcm.edu	37	6	51923378	51923378	+	Missense_Mutation	SNP	C	C	T	rs138672830	byFrequency	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr6:51923378C>T	ENST00000371117.3	-	16	1530	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V419I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	419					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V419I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCAGTGCCGACGCTGATGGAG	0.498													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22269	0.0		0.0	False		,,,				2504	0.0				p.V419I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1255A	6						.	C	ILE/VAL,ILE/VAL	6,4400	11.4+/-27.6	0,6,2197	110.0	104.0	106.0		1255,1255	1.1	0.0	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	29,29	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	benign,benign	419/4075,419/3397	51923378	7,12999	2203	4300	6503	52031337	SO:0001583	missense	5314	exon16			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1255G>A	6.37:g.51923378C>T	ENSP00000360158:p.Val419Ile		52031337	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.637	-0.814936	0.02776	0.001362	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88124	-2.34;-2.34	5.94	1.11	0.20524	.	0.796525	0.11432	N	0.564727	T	0.68751	0.3035	M	0.63428	1.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.55636	-0.8110	10	0.22706	T	0.39	.	6.606	0.22726	0.114:0.6317:0.0:0.2544	.	419;419	P08F94-2;P08F94	.;PKHD1_HUMAN	I	419	ENSP00000360158:V419I;ENSP00000341097:V419I	ENSP00000341097:V419I	V	-	1	0	PKHD1	52031337	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.022000	0.13511	0.126000	0.18424	-0.897000	0.02905	GTC		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
TTLL6	284076	hgsc.bcm.edu	37	17	46847280	46847280	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr17:46847280C>T	ENST00000393382.3	-	14	2361	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	TTLL6_ENST00000433608.2_Missense_Mutation_p.M433I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.M692I(1)|p.M418I(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AAGATTTTAACATTTTCTTCT	0.463																																					p.M740I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2220A	17						.						84.0	85.0	85.0					17																	46847280		2203	4300	6503	44202279	SO:0001583	missense	284076	exon14			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2220G>A	17.37:g.46847280C>T	ENSP00000377043:p.Met740Ile		44202279	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	0.154	-1.088467	0.01873	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.48	-1.78	0.07957	.	96.862600	0.00166	U	0.000001	T	0.15305	0.0369	N	0.04880	-0.145	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.07404	-1.0774	9	0.16896	T	0.51	.	0.8629	0.01197	0.159:0.1958:0.3275:0.3177	.	692;433	Q8N841;G5E937	TTLL6_HUMAN;.	I	740;433;418;692	.	ENSP00000302547:M433I	M	-	3	0	TTLL6	44202279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.112000	0.15479	-0.230000	0.09840	-1.224000	0.01588	ATG		0.463	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R175H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,lung,NS,Substitution - Missense,0	.	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	c.G524A	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578	.						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH2	146754	hgsc.bcm.edu	37	17	7701621	7701621	+	Missense_Mutation	SNP	C	C	T	rs138592684	byFrequency	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr17:7701621C>T	ENST00000572933.1	+	54	9837	c.8377C>T	c.(8377-8379)Cgg>Tgg	p.R2793W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2793W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2793	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2793W(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAACATTATCGGAAGCAGGA	0.542																																					p.R2793W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8377T	17						.	C	TRP/ARG	3,4403		0,3,2200	42.0	41.0	41.0		8377	5.3	1.0	17	dbSNP_134	41	0,8598		0,0,4299	yes	missense	DNAH2	NM_020877.2	101	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	2793/4428	7701621	3,13001	2203	4299	6502	7642346	SO:0001583	missense	146754	exon53			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8377C>T	17.37:g.7701621C>T	ENSP00000458355:p.Arg2793Trp		7642346	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069714	0.93950	6.81E-4	0.0	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.40476	1.03	5.3	5.3	0.74995	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78226	-0.2286	10	0.87932	D	0	.	18.0885	0.89466	0.0:1.0:0.0:0.0	.	2793	Q9P225	DYH2_HUMAN	W	2793	ENSP00000373825:R2793W	ENSP00000353818:R2793W	R	+	1	2	DNAH2	7642346	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	4.453000	0.60061	2.639000	0.89480	0.455000	0.32223	CGG		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
UBE2O	63893	hgsc.bcm.edu	37	17	74397133	74397133	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr17:74397133C>T	ENST00000319380.7	-	6	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	285					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.V285M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GTGCTGAGCACGGGCTTGACA	0.587																																					p.V285M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G853A	17						.						74.0	55.0	61.0					17																	74397133		2203	4300	6503	71908728	SO:0001583	missense	63893	exon6			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.853G>A	17.37:g.74397133C>T	ENSP00000323687:p.Val285Met		71908728	NM_022066	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057956	0.76074	.	.	ENSG00000175931	ENST00000319380	T	0.72942	-0.7	5.07	5.07	0.68467	.	0.328060	0.27773	N	0.017914	T	0.73729	0.3624	N	0.17474	0.49	0.49389	D	0.999787	D	0.89917	1.0	D	0.83275	0.996	T	0.72883	-0.4157	10	0.27785	T	0.31	-10.4884	18.4527	0.90710	0.0:1.0:0.0:0.0	.	285	Q9C0C9	UBE2O_HUMAN	M	285	ENSP00000323687:V285M	ENSP00000323687:V285M	V	-	1	0	UBE2O	71908728	1.000000	0.71417	0.928000	0.36995	0.848000	0.48234	7.787000	0.85759	2.365000	0.80145	0.655000	0.94253	GTG		0.587	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
AGPAT3	56894	hgsc.bcm.edu	37	21	45391327	45391327	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr21:45391327G>A	ENST00000398063.2	+	6	1215	c.723G>A	c.(721-723)ctG>ctA	p.L241L	AGPAT3_ENST00000398058.1_Silent_p.L241L|AGPAT3_ENST00000398061.1_Silent_p.L241L|AGPAT3_ENST00000327505.2_Silent_p.L241L|AGPAT3_ENST00000546158.1_Silent_p.L241L|AGPAT3_ENST00000291572.8_Silent_p.L241L|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	241					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L241L(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGTCCCTGCTGGGGATCCTCT	0.612																																					p.L241L	Pancreas(60;623 1650 5574 52796)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G723A	21						.						139.0	137.0	137.0					21																	45391327		2203	4300	6503	44215755	SO:0001819	synonymous_variant	56894	exon7			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.723G>A	21.37:g.45391327G>A			44215755	NM_020132	D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	CCDS13703.1																																																																																				0.612	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132	
PHKB	5257	hgsc.bcm.edu	37	16	47727375	47727375	+	Missense_Mutation	SNP	G	G	A	rs144689991		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr16:47727375G>A	ENST00000323584.5	+	28	2876	c.2852G>A	c.(2851-2853)cGc>cAc	p.R951H	PHKB_ENST00000299167.8_Missense_Mutation_p.R951H|PHKB_ENST00000566044.1_Missense_Mutation_p.R944H|PHKB_ENST00000455779.1_Missense_Mutation_p.R944H	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	951	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R951H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATTCTGGAGCGCACGCCCAAT	0.502																																					p.R944H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2831A	16						.						68.0	63.0	64.0					16																	47727375		2201	4300	6501	46284876	SO:0001583	missense	5257	exon29				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2852G>A	16.37:g.47727375G>A	ENSP00000313504:p.Arg951His		46284876	NM_001031835	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516512	0.96402	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;T;T	0.91237	-2.81;-0.54;-0.54	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	D	0.91066	0.4889	10	0.27082	T	0.32	-15.543	20.2985	0.98592	0.0:0.0:1.0:0.0	.	192;951;944	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	H	944;944;951	ENSP00000299167:R944H;ENSP00000414345:R944H;ENSP00000313504:R951H	ENSP00000299167:R944H	R	+	2	0	PHKB	46284876	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.370000	0.97159	2.793000	0.96121	0.655000	0.94253	CGC		0.502	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
CDH8	1006	hgsc.bcm.edu	37	16	61935314	61935314	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr16:61935314C>A	ENST00000577390.1	-	3	1270	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W	CDH8_ENST00000577730.1_Missense_Mutation_p.G106W|CDH8_ENST00000299345.6_Missense_Mutation_p.G106W|CDH8_ENST00000584337.1_Missense_Mutation_p.G106W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	106	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G106W(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATATGGTCCCAGCTCCATCA	0.408																																					p.G106W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316T	16						.						107.0	102.0	104.0					16																	61935314		2203	4300	6503	60492815	SO:0001583	missense	1006	exon3			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.316G>T	16.37:g.61935314C>A	ENSP00000462701:p.Gly106Trp		60492815	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215973	0.79352	.	.	ENSG00000150394	ENST00000299345	T	0.55234	0.53	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.044703	0.85682	D	0.000000	D	0.84047	0.5386	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88284	0.2938	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	106	P55286	CADH8_HUMAN	W	106	ENSP00000299345:G106W	ENSP00000299345:G106W	G	-	1	0	CDH8	60492815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	GGG		0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
LRRC36	55282	hgsc.bcm.edu	37	16	67375878	67375878	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr16:67375878C>T	ENST00000329956.6	+	2	108	c.89C>T	c.(88-90)tCa>tTa	p.S30L	LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	30								p.S30L(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GAGTCTCTTTCATTGCAGGGA	0.398																																					p.S30L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89T	16						.						128.0	122.0	124.0					16																	67375878		2198	4300	6498	65933379	SO:0001583	missense	55282	exon2			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.89C>T	16.37:g.67375878C>T	ENSP00000329943:p.Ser30Leu		65933379	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547022	0.45383	.	.	ENSG00000159708	ENST00000329956	T	0.24538	1.85	5.55	5.55	0.83447	.	0.160401	0.40818	N	0.001018	T	0.42017	0.1184	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.09862	-1.0655	10	0.46703	T	0.11	-7.5457	15.0199	0.71621	0.0:1.0:0.0:0.0	.	30	Q1X8D7	LRC36_HUMAN	L	30	ENSP00000329943:S30L	ENSP00000329943:S30L	S	+	2	0	LRRC36	65933379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.761000	0.55242	2.614000	0.88457	0.563000	0.77884	TCA		0.398	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	
USP7	7874	hgsc.bcm.edu	37	16	8992421	8992421	+	Silent	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr16:8992421C>T	ENST00000344836.4	-	24	2805	c.2607G>A	c.(2605-2607)aaG>aaA	p.K869K	USP7_ENST00000381886.4_Silent_p.K853K|USP7_ENST00000535863.1_Silent_p.K770K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	869					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.K869K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTTGTCTAGGCTTGAAGAACT	0.378																																					p.K869K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2607A	16						.						72.0	76.0	75.0					16																	8992421		2197	4300	6497	8899922	SO:0001819	synonymous_variant	7874	exon24			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2607G>A	16.37:g.8992421C>T			8899922	NM_003470	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				0.378	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
CHST4	10164	hgsc.bcm.edu	37	16	71571445	71571445	+	Nonsense_Mutation	SNP	C	C	T	rs144191969		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr16:71571445C>T	ENST00000338482.5	+	3	1208	c.865C>T	c.(865-867)Cga>Tga	p.R289*	CHST4_ENST00000572450.1_Nonsense_Mutation_p.R289*|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Nonsense_Mutation_p.R289*			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	289					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.R289*(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCAGACTTCCCGAATGTATGA	0.567											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R289X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C865T	16						.	C	stop/ARG,stop/ARG	1,4395	2.1+/-5.4	0,1,2197	89.0	79.0	83.0		865,865	3.8	0.1	16	dbSNP_134	83	0,8600		0,0,4300	no	stop-gained,stop-gained	CHST4	NM_001166395.1,NM_005769.2	,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,	289/387,289/387	71571445	1,12995	2198	4300	6498	70128946	SO:0001587	stop_gained	10164	exon2			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.865C>T	16.37:g.71571445C>T	ENSP00000341206:p.Arg289*	1131	70128946	NM_001166395	Q8IV46|Q9Y5R3	Nonsense_Mutation	SNP	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414643	0.62511	2.27E-4	0.0	ENSG00000140835	ENST00000338482;ENST00000539698	.	.	.	6.02	3.85	0.44370	.	0.648698	0.15268	N	0.271430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-6.7456	14.3748	0.66867	0.286:0.714:0.0:0.0	.	.	.	.	X	289	.	ENSP00000341206:R289X	R	+	1	2	CHST4	70128946	0.000000	0.05858	0.064000	0.19789	0.047000	0.14425	0.380000	0.20602	1.498000	0.48600	0.655000	0.94253	CGA		0.567	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769	
ROCK1	6093	hgsc.bcm.edu	37	18	18550412	18550412	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr18:18550412C>T	ENST00000399799.2	-	23	3657	c.2717G>A	c.(2716-2718)cGa>cAa	p.R906Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	906	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R906Q(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGAAGGCCTCGCGCCAACTG	0.383																																					p.R906Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2717A	18						.						148.0	136.0	140.0					18																	18550412		2203	4300	6503	16804410	SO:0001583	missense	6093	exon23				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2717G>A	18.37:g.18550412C>T	ENSP00000382697:p.Arg906Gln		16804410	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	36	5.754285	0.96890	.	.	ENSG00000067900	ENST00000399799	T	0.13901	2.55	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.28202	-1.0051	10	0.87932	D	0	.	18.4587	0.90731	0.0:1.0:0.0:0.0	.	906	Q13464	ROCK1_HUMAN	Q	906	ENSP00000382697:R906Q	ENSP00000382697:R906Q	R	-	2	0	ROCK1	16804410	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.345000	0.79337	2.586000	0.87340	0.563000	0.77884	CGA		0.383	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
LAMA1	284217	hgsc.bcm.edu	37	18	7033010	7033010	+	Silent	SNP	C	C	T	rs139988519		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr18:7033010C>T	ENST00000389658.3	-	15	2229	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	712	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P712P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGTAGCCTTGCGGACATTCAC	0.522																																					p.P712P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2136A	18						.						109.0	82.0	91.0					18																	7033010		2203	4300	6503	7023010	SO:0001819	synonymous_variant	284217	exon15			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2136G>A	18.37:g.7033010C>T			7023010	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MTCL1	23255	hgsc.bcm.edu	37	18	8819107	8819107	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr18:8819107G>A	ENST00000306329.11	+	11	3963	c.3963G>A	c.(3961-3963)ccG>ccA	p.P1321P	SOGA2_ENST00000518815.1_Silent_p.P327P|SOGA2_ENST00000359865.3_Silent_p.P1002P|SOGA2_ENST00000306285.7_Silent_p.P327P|SOGA2_ENST00000400050.3_Silent_p.P961P|SOGA2_ENST00000517570.1_Silent_p.P961P														p.P1002P(1)									ACTCCATCCCGTTTGAAGACC	0.597																																					p.P1002P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3006A	18						.						50.0	46.0	47.0					18																	8819107		2203	4300	6503	8809107	SO:0001819	synonymous_variant	23255	exon13																														ENST00000306329.11:c.3963G>A	18.37:g.8819107G>A			8809107	NM_015210		Silent	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	G	8.967	0.971957	0.18736	.	.	ENSG00000168502	ENST00000519823	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.41738	D	0.989598	.	.	.	.	.	.	T	0.73742	-0.3887	4	.	.	.	-6.743	13.065	0.59028	0.0776:0.0797:0.6304:0.2123	.	.	.	.	I	108	.	.	V	+	1	0	CCDC165	8809107	0.003000	0.15002	0.000000	0.03702	0.180000	0.23129	-1.213000	0.02991	-3.970000	0.00086	-1.021000	0.02439	GTT		0.597	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
SMAD4	4089	hgsc.bcm.edu	37	18	48573585	48573585	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr18:48573585T>G	ENST00000342988.3	+	2	707	c.169T>G	c.(169-171)Tta>Gta	p.L57V	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.L57V|SMAD4_ENST00000398417.2_Missense_Mutation_p.L57V|SMAD4_ENST00000452201.2_Missense_Mutation_p.L57V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	57	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)|p.L57V(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTGGATTCTTTAATAACAGC	0.363																																					p.L57V												.	.	42	Whole gene deletion(36)|Unknown(5)|Substitution - Missense(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)	c.T169G	18						.						120.0	128.0	125.0					18																	48573585		2203	4300	6503	46827583	SO:0001583	missense	4089	exon2			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.169T>G	18.37:g.48573585T>G	ENSP00000341551:p.Leu57Val		46827583	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.479970	0.63849	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.81659	-1.52;-1.52;-1.52	5.86	4.7	0.59300	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.64402	D	0.000001	D	0.90293	0.6964	M	0.91459	3.21	0.48975	D	0.999735	D	0.71674	0.998	D	0.87578	0.998	D	0.90288	0.4320	10	0.87932	D	0	.	8.3079	0.32053	0.0:0.1542:0.0:0.8458	.	57	Q13485	SMAD4_HUMAN	V	57	ENSP00000409551:L57V;ENSP00000341551:L57V;ENSP00000381452:L57V	ENSP00000341551:L57V	L	+	1	2	SMAD4	46827583	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	2.084000	0.41625	1.051000	0.40369	-0.250000	0.11733	TTA		0.363	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
HRH1	3269	hgsc.bcm.edu	37	3	11301062	11301062	+	Silent	SNP	G	G	A	rs201790628	byFrequency	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr3:11301062G>A	ENST00000397056.1	+	3	530	c.339G>A	c.(337-339)gcG>gcA	p.A113A	HRH1_ENST00000438284.2_Silent_p.A113A|HRH1_ENST00000431010.2_Silent_p.A113A	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	113					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.A113A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCAGCACAGCGTCCATTTTCA	0.542													G|||	6	0.00119808	0.0	0.0	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.0061				p.A113A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	3						.						215.0	208.0	210.0					3																	11301062		2203	4300	6503	11276062	SO:0001819	synonymous_variant	3269	exon2				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.339G>A	3.37:g.11301062G>A			11276062	NM_001098211	A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	CCDS2604.1																																																																																				0.542	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2		
CPB1	1360	hgsc.bcm.edu	37	3	148562486	148562486	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr3:148562486G>A	ENST00000491148.1	+	9	1044	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CPB1_ENST00000282957.4_Missense_Mutation_p.R237H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	237						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R237H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAAAGACTCGCTCCACCCAT	0.433																																					p.R237H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710A	3						.						115.0	114.0	114.0					3																	148562486		2203	4300	6503	150045176	SO:0001583	missense	1360	exon8			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.710G>A	3.37:g.148562486G>A	ENSP00000417222:p.Arg237His		150045176	NM_001871	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218427	0.95104	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.24908	1.83;1.83;1.83	5.78	5.78	0.91487	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83501	0.0075	10	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	237	P15086	CBPB1_HUMAN	H	237;237;203	ENSP00000417222:R237H;ENSP00000282957:R237H;ENSP00000419427:R203H	ENSP00000282957:R237H	R	+	2	0	CPB1	150045176	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.476000	0.97823	2.749000	0.94314	0.655000	0.94253	CGC		0.433	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
PRMT8	56341	hgsc.bcm.edu	37	12	3702265	3702265	+	Splice_Site	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr12:3702265C>T	ENST00000382622.3	+	10	1492	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Splice_Site_p.R359*	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	368	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R368*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGCCTTGCAGCGAGACCTCGA	0.542																																					p.R368X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1102T	12						.						85.0	69.0	75.0					12																	3702265		2203	4300	6503	3572526	SO:0001630	splice_region_variant	56341	exon10			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1102-1C>T	12.37:g.3702265C>T			3572526	NM_019854	B2RDP0|Q8TBJ8	Nonsense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804512	0.90623	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	.	.	.	5.22	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7323	0.57204	0.1657:0.8342:0.0:0.0	.	.	.	.	X	359;368	.	.	R	+	1	2	PRMT8	3572526	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.856000	0.62932	1.158000	0.42547	0.313000	0.20887	CGA		0.542	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	Nonsense_Mutation
SECISBP2L	9728	hgsc.bcm.edu	37	15	49325216	49325216	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr15:49325216C>T	ENST00000559471.1	-	4	873	c.610G>A	c.(610-612)Ggt>Agt	p.G204S	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.G204S	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	204							poly(A) RNA binding (GO:0044822)	p.G204S(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTATCAGGACCTGCTGCATTT	0.383																																					p.G204S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	15						.						257.0	226.0	237.0					15																	49325216		2197	4295	6492	47112508	SO:0001583	missense	9728	exon4			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.610G>A	15.37:g.49325216C>T	ENSP00000453854:p.Gly204Ser		47112508	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073811	0.55646	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89485	-2.52	5.37	5.37	0.77165	.	0.101544	0.64402	D	0.000002	T	0.80859	0.4704	N	0.20986	0.625	0.44227	D	0.997068	B;B	0.31193	0.208;0.312	B;B	0.31812	0.112;0.136	T	0.76884	-0.2794	10	0.19147	T	0.46	.	12.4617	0.55734	0.0:0.9234:0.0:0.0766	.	204;204	Q93073;Q93073-2	SBP2L_HUMAN;.	S	204	ENSP00000261847:G204S	ENSP00000261847:G204S	G	-	1	0	SECISBP2L	47112508	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.085000	0.50151	2.513000	0.84729	0.491000	0.48974	GGT		0.383	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
RAB28	9364	hgsc.bcm.edu	37	4	13371557	13371557	+	Intron	SNP	C	C	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr4:13371557C>A	ENST00000330852.5	-	7	788				RAB28_ENST00000288723.4_Silent_p.P202P|RAB28_ENST00000338176.4_Intron	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P202P(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTTCTTCTTCCGGGTACTTCA	0.353																																					p.P202P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606T	4						.						187.0	168.0	175.0					4																	13371557		2203	4300	6503	12980655	SO:0001627	intron_variant	9364	exon7			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.574-1283G>T	4.37:g.13371557C>A			12980655	NM_004249	G8JLC5|Q8IYR8|Q8NI05	Silent	SNP	ENST00000330852.5	37	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913354	0.17907	.	.	ENSG00000157869	ENST00000511649	.	.	.	5.82	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1118	0.10062	0.3077:0.491:0.124:0.0774	.	.	.	.	X	125	.	.	G	-	1	0	RAB28	12980655	0.972000	0.33761	1.000000	0.80357	0.975000	0.68041	-0.002000	0.12924	2.754000	0.94517	0.591000	0.81541	GGA		0.353	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979	
NR3C2	4306	hgsc.bcm.edu	37	4	149357961	149357961	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr4:149357961G>A	ENST00000358102.3	-	2	414	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	NR3C2_ENST00000512865.1_Missense_Mutation_p.R18W|NR3C2_ENST00000355292.3_Missense_Mutation_p.R18W|NR3C2_ENST00000511528.1_Missense_Mutation_p.R18W|NR3C2_ENST00000344721.4_Missense_Mutation_p.R18W	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	18	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R18W(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGACCCCACCGTCTTTCCATA	0.433																																					p.R18W	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52T	4						.						73.0	66.0	68.0					4																	149357961		2203	4300	6503	149577411	SO:0001583	missense	4306	exon2			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.52C>T	4.37:g.149357961G>A	ENSP00000350815:p.Arg18Trp		149577411	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228252	0.39399	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91996	-2.94;-2.95;-2.94;-2.56;-2.54;-2.95	6.02	4.3	0.51218	.	0.304661	0.35378	N	0.003252	D	0.88676	0.6501	L	0.50333	1.59	0.42714	D	0.993654	B;D	0.63046	0.004;0.992	B;B	0.42386	0.001;0.386	D	0.86266	0.1658	9	.	.	.	.	11.3953	0.49838	0.0648:0.0:0.8082:0.127	.	18;18	B0ZBF5;B0ZBF6	.;.	W	18	ENSP00000341390:R18W;ENSP00000347441:R18W;ENSP00000350815:R18W;ENSP00000423510:R18W;ENSP00000343907:R18W;ENSP00000421481:R18W	.	R	-	1	2	NR3C2	149577411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.489000	0.66875	0.881000	0.35993	0.655000	0.94253	CGG		0.433	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
ADAMTS3	9508	hgsc.bcm.edu	37	4	73205406	73205406	+	Silent	SNP	C	C	T	rs375370429		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr4:73205406C>T	ENST00000286657.4	-	5	702	c.666G>A	c.(664-666)tcG>tcA	p.S222S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	222					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S222S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCAGGTCCGACTCTAATA	0.453																																					p.S222S	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G666A	4						.	C		1,4405	2.1+/-5.4	0,1,2202	128.0	129.0	128.0		666	-7.2	0.0	4		128	0,8600		0,0,4300	no	coding-synonymous	ADAMTS3	NM_014243.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		222/1206	73205406	1,13005	2203	4300	6503	73424270	SO:0001819	synonymous_variant	9508	exon5			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.666G>A	4.37:g.73205406C>T			73424270	NM_014243	A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	CCDS3553.1																																																																																				0.453	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
SPARCL1	8404	hgsc.bcm.edu	37	4	88411522	88411522	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr4:88411522G>A	ENST00000282470.6	-	7	1904	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	SPARCL1_ENST00000418378.1_Silent_p.T478T|SPARCL1_ENST00000503414.1_Silent_p.T353T	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	478	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.T478T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AACTAGCATAGGTCTGATTGT	0.438																																					p.T478T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1434T	4						.						245.0	257.0	253.0					4																	88411522		2203	4300	6503	88630546	SO:0001819	synonymous_variant	8404	exon8			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1434C>T	4.37:g.88411522G>A			88630546	NM_001128310	B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	CCDS3622.1																																																																																				0.438	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
HMGB2	3148	hgsc.bcm.edu	37	4	174254768	174254768	+	Silent	SNP	G	G	T	rs200580073		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr4:174254768G>T	ENST00000296503.5	-	2	906	c.33C>A	c.(31-33)ggC>ggA	p.G11G	HMGB2_ENST00000438704.2_Silent_p.G11G|HMGB2_ENST00000446922.2_Silent_p.G11G			P26583	HMGB2_HUMAN	high mobility group box 2	11					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.G11G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGACATTTTGCCCCGCGGCT	0.607																																					p.G11G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33A	4						.						73.0	75.0	74.0					4																	174254768		2203	4300	6503	174491343	SO:0001819	synonymous_variant	3148	exon2				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.33C>A	4.37:g.174254768G>T			174491343	NM_002129	B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	CCDS3816.1																																																																																				0.607	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688	
PLS3	5358	hgsc.bcm.edu	37	X	114874777	114874777	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chrX:114874777G>A	ENST00000420625.2	+	9	1083	c.949G>A	c.(949-951)Ggt>Agt	p.G317S	PLS3_ENST00000537301.1_Missense_Mutation_p.G304S|PLS3_ENST00000355899.3_Missense_Mutation_p.G317S|PLS3_ENST00000539310.1_Missense_Mutation_p.G272S|PLS3_ENST00000289290.3_Missense_Mutation_p.G281S|PLS3_ENST00000543070.1_De_novo_Start_OutOfFrame	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	317	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.G317S(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACAAAAGGAAGGTGAACCACG	0.338																																					p.G317S	Colon(160;1047 1864 8490 12969 29601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G949A	X						.						172.0	147.0	156.0					X																	114874777		2203	4300	6503	114781033	SO:0001583	missense	5358	exon9			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.949G>A	X.37:g.114874777G>A	ENSP00000398945:p.Gly317Ser		114781033	NM_005032	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	CCDS14568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.729294|3.729294	0.69074|0.69074	.|.	.|.	ENSG00000102024|ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310|ENST00000497870	T;D;D;T;D|.	0.85258|.	-0.47;-1.72;-1.94;-0.47;-1.96|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Calponin homology domain (5);|.	0.089981|.	0.85682|.	D|.	0.000000|.	T|T	0.71476|0.71476	0.3344|0.3344	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.31893|.	0.169;0.001;0.345;0.0|.	B;B;B;B|.	0.31614|.	0.133;0.01;0.119;0.006|.	T|T	0.69146|0.69146	-0.5222|-0.5222	10|5	0.59425|.	D|.	0.04|.	-16.7243|-16.7243	17.269|17.269	0.87096|0.87096	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	290;304;281;317|.	B4DPW9;B4DGB4;F8W8D8;P13797|.	.;.;.;PLST_HUMAN|.	S|K	317;304;281;317;272|37	ENSP00000348163:G317S;ENSP00000445105:G304S;ENSP00000289290:G281S;ENSP00000398945:G317S;ENSP00000445339:G272S|.	ENSP00000289290:G281S|.	G|R	+|+	1|2	0|0	PLS3|PLS3	114781033|114781033	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.711000|6.711000	0.74675|0.74675	2.394000|2.394000	0.81467|0.81467	0.600000|0.600000	0.82982|0.82982	GGT|AGG		0.338	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2		
CHAC2	494143	hgsc.bcm.edu	37	2	54001633	54001633	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr2:54001633G>C	ENST00000295304.4	+	3	621	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	176								p.E176Q(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAACGTTTAGAAGGGAAACA	0.328																																					p.E176Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526C	2						.						47.0	48.0	48.0					2																	54001633		2203	4300	6503	53855137	SO:0001583	missense	494143	exon3			BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.526G>C	2.37:g.54001633G>C	ENSP00000295304:p.Glu176Gln		53855137	NM_001008708	Q8WVI8	Missense_Mutation	SNP	ENST00000295304.4	37	CCDS33196.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513728	0.44763	.	.	ENSG00000143942	ENST00000295304	T	0.44881	0.91	6.03	6.03	0.97812	.	0.304537	0.39834	N	0.001258	T	0.41419	0.1158	L	0.49350	1.555	0.41743	D	0.989624	B	0.11235	0.004	B	0.15052	0.012	T	0.27226	-1.0080	10	0.15952	T	0.53	-20.3398	20.5666	0.99351	0.0:0.0:1.0:0.0	.	176	Q8WUX2	CHAC2_HUMAN	Q	176	ENSP00000295304:E176Q	ENSP00000295304:E176Q	E	+	1	0	CHAC2	53855137	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.152000	0.31663	2.854000	0.98071	0.655000	0.94253	GAA		0.328	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324072.1	NM_001008708	
DTYMK	1841	hgsc.bcm.edu	37	2	242619715	242619715	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr2:242619715A>T	ENST00000305784.2	-	3	466	c.259T>A	c.(259-261)Ttg>Atg	p.L87M	DTYMK_ENST00000493095.1_5'Flank	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	87					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)	p.L87M(1)		NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CCCTGGCTCAACTTTTCCTTA	0.532																																					p.L87M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T259A	2						.						117.0	98.0	105.0					2																	242619715		2203	4300	6503	242268388	SO:0001583	missense	1841	exon3			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.259T>A	2.37:g.242619715A>T	ENSP00000304802:p.Leu87Met		242268388	NM_001165031	B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.51|18.51	3.639326|3.639326	0.67244|0.67244	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000305784|ENST00000420144	T|.	0.59083|.	0.29|.	5.48|5.48	-0.0802|-0.0802	0.13708|0.13708	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.77685|0.77685	0.4167|0.4167	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79784|.	0.993;0.978|.	T|T	0.78814|0.78814	-0.2056|-0.2056	10|5	0.66056|.	D|.	0.02|.	-20.4296|-20.4296	10.862|10.862	0.46831|0.46831	0.5449:0.0:0.4551:0.0|0.5449:0.0:0.4551:0.0	.|.	87;87|.	B7ZW70;P23919|.	.;KTHY_HUMAN|.	M|R	87|82	ENSP00000304802:L87M|.	ENSP00000304802:L87M|.	L|S	-|-	1|3	2|2	DTYMK|DTYMK	242268388|242268388	0.974000|0.974000	0.33945|0.33945	0.997000|0.997000	0.53966|0.53966	0.940000|0.940000	0.58332|0.58332	0.165000|0.165000	0.16564|0.16564	0.000000|0.000000	0.14550|0.14550	0.533000|0.533000	0.62120|0.62120	TTG|AGT		0.532	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145	
CDKN2A	1029	hgsc.bcm.edu	37	9	21970974	21970974	+	Silent	SNP	C	C	T	rs199901898		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr9:21970974C>T	ENST00000304494.5	-	2	654	c.384G>A	c.(382-384)cgG>cgA	p.R128R	CDKN2A_ENST00000498124.1_Silent_p.R128R|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000479692.2_Silent_p.R77R|CDKN2A_ENST00000497750.1_Silent_p.R77R|CDKN2A_ENST00000578845.2_Silent_p.R77R|CDKN2A_ENST00000498628.2_Silent_p.R77R|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579755.1_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Silent_p.R128R|CDKN2A_ENST00000494262.1_Silent_p.R77R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	128					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.R128R(3)|p.R128fs*9(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGCGCAGGTACCGTGCGACAT	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																											p.R128R												CDKN2A,pancreas,NS,Substitution - Missense,+2	.	1338	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(6)|Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(51)|oesophagus(48)|ovary(35)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|large_intestine(8)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	c.G384A	9						.	C	,,,	0,4406		0,0,2203	29.0	31.0	31.0		384,384,,	-0.2	0.4	9		31	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-3,utr-3	CDKN2A	NM_000077.4,NM_001195132.1,NM_058195.3,NM_058197.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	128/157,128/168,,	21970974	1,13005	2203	4300	6503	21960974	SO:0001819	synonymous_variant	1029	exon2			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.384G>A	9.37:g.21970974C>T			21960974	NM_000077	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	CCDS6510.1																																																																																				0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
DNAI1	27019	hgsc.bcm.edu	37	9	34512387	34512387	+	Missense_Mutation	SNP	C	C	T	rs137935543		TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr9:34512387C>T	ENST00000242317.4	+	15	1625	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	485					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.T485M(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GGCAGCACCACGGAAGTTCCT	0.612									Kartagener syndrome																												p.T485M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1454T	9						.	C	MET/THR	3,4403	4.2+/-10.8	0,3,2200	76.0	59.0	65.0		1454	2.8	0.0	9	dbSNP_134	65	0,8600		0,0,4300	no	missense	DNAI1	NM_012144.2	81	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	485/700	34512387	3,13003	2203	4300	6503	34502387	SO:0001583	missense	27019	exon15	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1454C>T	9.37:g.34512387C>T	ENSP00000242317:p.Thr485Met		34502387	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664465	0.47572	6.81E-4	0.0	ENSG00000122735	ENST00000379040;ENST00000242317	T	0.75938	-0.98	5.56	2.76	0.32466	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.540590	0.03463	N	0.212508	T	0.68824	0.3043	L	0.41236	1.265	0.09310	N	0.999999	B	0.20887	0.049	B	0.17433	0.018	T	0.52480	-0.8570	10	0.44086	T	0.13	.	9.2729	0.37681	0.0:0.7626:0.0:0.2374	.	485	Q9UI46	DNAI1_HUMAN	M	41;485	ENSP00000242317:T485M	ENSP00000242317:T485M	T	+	2	0	DNAI1	34502387	0.000000	0.05858	0.006000	0.13384	0.958000	0.62258	0.003000	0.13083	0.314000	0.23086	-0.150000	0.13652	ACG		0.612	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
GPC5	2262	hgsc.bcm.edu	37	13	92380834	92380834	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr13:92380834C>T	ENST00000377067.3	+	4	1441	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	357					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R357C(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACAAAGCCCCCGTTGTTCTTT	0.408																																					p.R357C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1069T	13						.						125.0	129.0	128.0					13																	92380834		2203	4300	6503	91178835	SO:0001583	missense	2262	exon4			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1069C>T	13.37:g.92380834C>T	ENSP00000366267:p.Arg357Cys		91178835	NM_004466	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803202	0.31869	.	.	ENSG00000179399	ENST00000377067	T	0.55588	0.51	5.88	5.02	0.67125	.	1.139230	0.06161	N	0.675933	T	0.52141	0.1716	L	0.58101	1.795	0.09310	N	0.999996	B	0.27351	0.176	B	0.26202	0.067	T	0.37842	-0.9688	10	0.38643	T	0.18	-2.7689	10.6536	0.45663	0.1259:0.7003:0.1738:0.0	.	357	P78333	GPC5_HUMAN	C	357	ENSP00000366267:R357C	ENSP00000366267:R357C	R	+	1	0	GPC5	91178835	0.001000	0.12720	0.824000	0.32777	0.986000	0.74619	0.310000	0.19356	2.792000	0.96026	0.557000	0.71058	CGT		0.408	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466	
LIG4	3981	hgsc.bcm.edu	37	13	108863418	108863418	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr13:108863418C>T	ENST00000356922.4	-	2	471	c.199G>A	c.(199-201)Gca>Aca	p.A67T	LIG4_ENST00000405925.1_Missense_Mutation_p.A67T|LIG4_ENST00000442234.1_Missense_Mutation_p.A67T	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	67					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.A67T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGTCTCATTGCTGGATAAAAA	0.343								Non-homologous end-joining																													p.A67T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	13						.						95.0	98.0	97.0					13																	108863418		2203	4299	6502	107661419	SO:0001583	missense	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.199G>A	13.37:g.108863418C>T	ENSP00000349393:p.Ala67Thr		107661419	NM_002312	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036708	0.75617	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.18174	2.23;2.23;2.23	6.05	6.05	0.98169	DNA ligase, ATP-dependent, N-terminal (3);	0.050361	0.85682	D	0.000000	T	0.34483	0.0899	M	0.81341	2.54	0.80722	D	1	P	0.42871	0.792	P	0.47251	0.542	T	0.01889	-1.1253	10	0.27082	T	0.32	.	19.5914	0.95514	0.0:1.0:0.0:0.0	.	67	P49917	DNLI4_HUMAN	T	67	ENSP00000385955:A67T;ENSP00000402030:A67T;ENSP00000349393:A67T	ENSP00000349393:A67T	A	-	1	0	LIG4	107661419	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.424000	0.80242	2.875000	0.98604	0.643000	0.83706	GCA		0.343	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
IDI2	91734	hgsc.bcm.edu	37	10	1065499	1065499	+	Silent	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr10:1065499G>A	ENST00000277517.1	-	5	706	c.642C>T	c.(640-642)gaC>gaT	p.D214D	GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	214					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.D214D(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ACGGGGTCACGTCATCCAGGT	0.572																																					p.D214D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	10						.						50.0	49.0	49.0					10																	1065499		2203	4300	6503	1055499	SO:0001819	synonymous_variant	91734	exon5			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.642C>T	10.37:g.1065499G>A			1055499	NM_033261		Silent	SNP	ENST00000277517.1	37	CCDS7055.1																																																																																				0.572	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261	
SORCS3	22986	hgsc.bcm.edu	37	10	107022163	107022163	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr10:107022163A>C	ENST00000369701.3	+	26	3745	c.3518A>C	c.(3517-3519)cAa>cCa	p.Q1173P		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1173					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.Q1173P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGTGAGCCAAAGTGAAAAC	0.507																																					p.Q1173P	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3518C	10						.						96.0	77.0	84.0					10																	107022163		2203	4300	6503	107012153	SO:0001583	missense	22986	exon26			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3518A>C	10.37:g.107022163A>C	ENSP00000358715:p.Gln1173Pro		107012153	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700712	0.48307	.	.	ENSG00000156395	ENST00000369701	T	0.15372	2.43	5.84	5.84	0.93424	.	0.061453	0.64402	D	0.000003	T	0.11623	0.0283	N	0.15975	0.35	0.47308	D	0.999381	B	0.06786	0.001	B	0.11329	0.006	T	0.18681	-1.0329	9	.	.	.	.	16.2322	0.82352	1.0:0.0:0.0:0.0	.	1173	Q9UPU3	SORC3_HUMAN	P	1173	ENSP00000358715:Q1173P	.	Q	+	2	0	SORCS3	107012153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.716000	0.68437	2.233000	0.73108	0.454000	0.30748	CAA		0.507	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
HEXB	3074	hgsc.bcm.edu	37	5	74014148	74014148	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr5:74014148G>A	ENST00000261416.7	+	10	1319	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	HEXB_ENST00000511181.1_Missense_Mutation_p.G176E|HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000509579.1_5'Flank|GFM2_ENST00000515125.1_5'Flank	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	401					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G401E(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		ATAAACAAGGGATCCATTGTC	0.308																																					p.G401E	Melanoma(66;841 1270 13391 18706 27225)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1202A	5						.						105.0	112.0	110.0					5																	74014148		2203	4300	6503	74049904	SO:0001583	missense	3074	exon10			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1202G>A	5.37:g.74014148G>A	ENSP00000261416:p.Gly401Glu		74049904	NM_000521		Missense_Mutation	SNP	ENST00000261416.7	37	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322392	0.41096	.	.	ENSG00000049860	ENST00000511181;ENST00000261416	D;D	0.95035	-3.59;-3.59	5.95	1.02	0.19986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.641465	0.17890	N	0.158557	D	0.92844	0.7724	L	0.45137	1.4	0.80722	D	1	P	0.47253	0.892	P	0.54346	0.749	D	0.87783	0.2613	10	0.37606	T	0.19	0.5847	6.4167	0.21719	0.3102:0.0:0.5785:0.1112	.	401	P07686	HEXB_HUMAN	E	176;401	ENSP00000426285:G176E;ENSP00000261416:G401E	ENSP00000261416:G401E	G	+	2	0	HEXB	74049904	0.959000	0.32827	0.032000	0.17829	0.985000	0.73830	1.763000	0.38461	-0.096000	0.12329	0.563000	0.77884	GGA		0.308	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521	
SMIM12	113444	hgsc.bcm.edu	37	1	35321172	35321172	+	3'UTR	SNP	G	G	A			TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-A016-01A-01W-A005-10	TCGA-AG-A016-10A-01W-A005-10	g.chr1:35321172G>A	ENST00000521580.2	-	0	551				SMIM12_ENST00000423898.1_3'UTR|SMIM12_ENST00000456842.1_3'UTR|SMIM12_ENST00000446026.1_3'UTR	NM_001164824.1|NM_001164825.1|NM_138428.5	NP_001158296.1|NP_001158297.1|NP_612437.3	Q96EX1	SIM12_HUMAN	small integral membrane protein 12							integral component of membrane (GO:0016021)		p.P37L(1)									GTATTTGTGTGGCTGTGTGGT	0.567																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						92.0	95.0	94.0					1																	35321172		2203	4300	6503	35093759	SO:0001624	3_prime_UTR_variant	113444	.				CCDS53295.1	1p34.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000163866	ENSG00000163866			25154	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 212"""	C1orf212		12477932	Standard	NM_138428		Approved	FLJ90372	uc001byb.3	Q96EX1	OTTHUMG00000004375	ENST00000521580.2:c.*128C>T	1.37:g.35321172G>A			35093759	.	D3DPR5|Q49AP7|Q52LP9|Q8NCB4	Missense_Mutation	SNP	ENST00000521580.2	37	CCDS53295.1																																																																																				0.567	SMIM12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012715.3	NM_138428	
