#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	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
OGDH	4967	hgsc.bcm.edu	37	7	44747240	44747240	+	Missense_Mutation	SNP	G	G	T	rs373124686		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr7:44747240G>T	ENST00000222673.5	+	22	2898	c.2856G>T	c.(2854-2856)gaG>gaT	p.E952D	OGDH_ENST00000444676.1_Missense_Mutation_p.E967D|OGDH_ENST00000439616.2_Missense_Mutation_p.E802D|OGDH_ENST00000543843.1_Missense_Mutation_p.E903D|OGDH_ENST00000447398.1_Missense_Mutation_p.E963D|OGDH_ENST00000449767.1_Missense_Mutation_p.E948D	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	952					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCAATGCTGAGCTGGCCTGGT	0.562																																																	0			7											127.0	112.0	117.0					7																	44747240		2203	4300	6503	44713765	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2856G>T	7.37:g.44747240G>T	ENSP00000222673:p.Glu952Asp		44713765	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738034	0.30774	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.24	3.34	0.38264	.	0.154508	0.56097	N	0.000026	T	0.08313	0.0207	N	0.25890	0.77	0.46222	D	0.998936	B;B;B;B;B	0.12013	0.003;0.005;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.003;0.003	T	0.26395	-1.0104	10	0.31617	T	0.26	-23.3543	4.8279	0.13425	0.0769:0.2832:0.4937:0.1462	.	747;802;948;963;952	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	D	802;948;963;967;952;903	ENSP00000398576:E802D;ENSP00000392878:E948D;ENSP00000388183:E963D;ENSP00000414662:E967D;ENSP00000222673:E952D;ENSP00000443821:E903D	ENSP00000222673:E952D	E	+	3	2	OGDH	44713765	0.979000	0.34478	0.998000	0.56505	0.987000	0.75469	0.198000	0.17217	0.519000	0.28406	0.491000	0.48974	GAG		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
CCDC132	55610	hgsc.bcm.edu	37	7	92940486	92940486	+	Missense_Mutation	SNP	G	G	A	rs537217820		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr7:92940486G>A	ENST00000305866.5	+	20	1885	c.1757G>A	c.(1756-1758)cGg>cAg	p.R586Q	CCDC132_ENST00000535481.1_Missense_Mutation_p.R306Q|CCDC132_ENST00000541136.1_Missense_Mutation_p.R397Q|CCDC132_ENST00000317751.6_Missense_Mutation_p.R317Q|CCDC132_ENST00000544910.1_Missense_Mutation_p.R556Q	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	586						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R586L(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGTTTCTCGGGAAACTCTA	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15552	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	7											115.0	114.0	114.0					7																	92940486		1813	4062	5875	92778422	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1757G>A	7.37:g.92940486G>A	ENSP00000307666:p.Arg586Gln		92778422	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.384108|4.384108	0.82792|0.82792	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000458707|ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	.|T	.|0.43688	.|0.94	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58991|0.58991	0.2161|0.2161	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.994;0.997;0.994	.|D;D;D	.|0.69479	.|0.921;0.964;0.921	T|T	0.53301|0.53301	-0.8458|-0.8458	5|10	.|0.40728	.|T	.|0.16	-14.5355|-14.5355	19.7839|19.7839	0.96430|0.96430	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|306;556;586	.|B4DS55;F5H5U7;Q96JG6	.|.;.;CC132_HUMAN	R|Q	373|586;556;397;306;317	.|ENSP00000325582:R317Q	.|ENSP00000307666:R586Q	G|R	+|+	1|2	0|0	CCDC132|CCDC132	92778422|92778422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	9.521000|9.521000	0.98029|0.98029	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.333	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
MET	4233	hgsc.bcm.edu	37	7	116436144	116436144	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr7:116436144A>G	ENST00000318493.6	+	21	4380	c.4193A>G	c.(4192-4194)gAc>gGc	p.D1398G	MET_ENST00000539704.1_Missense_Mutation_p.D250G|MET_ENST00000397752.3_Missense_Mutation_p.D1380G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GATGAGGTGGACACACGACCA	0.453			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			7											196.0	180.0	185.0					7																	116436144		2020	4196	6216	116223380	SO:0001583	missense	8731	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4193A>G	7.37:g.116436144A>G	ENSP00000317272:p.Asp1398Gly		116223380	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068806	0.76301	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.77750	-0.83;-0.85;-1.12	4.43	4.43	0.53597	.	0.231206	0.52532	D	0.000078	T	0.77651	0.4162	L	0.60455	1.87	0.37957	D	0.932844	P;P	0.40534	0.72;0.598	B;B	0.43838	0.433;0.171	T	0.82579	-0.0387	10	0.66056	D	0.02	.	13.6968	0.62585	1.0:0.0:0.0:0.0	.	1398;1380	P08581-2;P08581	.;MET_HUMAN	G	1380;1398;250	ENSP00000380860:D1380G;ENSP00000317272:D1398G;ENSP00000445020:D250G	ENSP00000317272:D1398G	D	+	2	0	MET	116223380	1.000000	0.71417	0.996000	0.52242	0.599000	0.36880	3.336000	0.52113	1.615000	0.50252	0.533000	0.62120	GAC		0.453	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
OR2F2	135948	hgsc.bcm.edu	37	7	143632421	143632421	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr7:143632421G>T	ENST00000408955.2	+	1	163	c.96G>T	c.(94-96)ttG>ttT	p.L32F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCCTGTTCTTGGTCACATACC	0.458																																																	0			7											198.0	192.0	194.0					7																	143632421		2203	4300	6503	143263354	SO:0001583	missense	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.96G>T	7.37:g.143632421G>T	ENSP00000386222:p.Leu32Phe		143263354	A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686039	0.29962	.	.	ENSG00000221910	ENST00000408955	T	0.01804	4.63	3.26	2.36	0.29203	.	0.617739	0.13493	N	0.383824	T	0.04907	0.0132	M	0.67569	2.06	0.23700	N	0.997079	D	0.53462	0.96	P	0.54312	0.748	T	0.33059	-0.9883	10	0.51188	T	0.08	-1.3192	5.9562	0.19275	0.0:0.2145:0.565:0.2205	.	32	O95006	OR2F2_HUMAN	F	32	ENSP00000386222:L32F	ENSP00000386222:L32F	L	+	3	2	OR2F2	143263354	0.000000	0.05858	0.607000	0.28956	0.575000	0.36095	-1.148000	0.03185	0.687000	0.31509	0.491000	0.48974	TTG		0.458	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1		
TGM3	7053	hgsc.bcm.edu	37	20	2320521	2320521	+	Missense_Mutation	SNP	C	C	T	rs370607077	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr20:2320521C>T	ENST00000381458.5	+	12	1885	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	608					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGCTCGTGTGCGGAAGCCTGT	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13698	0.0		0.0	False		,,,				2504	0.001																0			20						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	73.0	78.0		1822	0.3	0.1	20		78	0,8600		0,0,4300	no	missense	TGM3	NM_003245.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	608/694	2320521	1,13005	2203	4300	6503	2268521	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1822C>T	20.37:g.2320521C>T	ENSP00000370867:p.Arg608Trp		2268521	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366131	0.61513	2.27E-4	0.0	ENSG00000125780	ENST00000381458	T	0.69040	-0.37	5.26	0.351	0.16042	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.405290	0.04301	N	0.347352	T	0.59878	0.2226	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	P	0.47864	0.559	T	0.55730	-0.8095	10	0.72032	D	0.01	-8.4543	7.9084	0.29776	0.5464:0.3121:0.1415:0.0	.	608	Q08188	TGM3_HUMAN	W	608	ENSP00000370867:R608W	ENSP00000370867:R608W	R	+	1	2	TGM3	2268521	0.000000	0.05858	0.130000	0.21974	0.035000	0.12851	-0.450000	0.06803	0.553000	0.29044	0.561000	0.74099	CGG		0.632	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
AHCY	191	hgsc.bcm.edu	37	20	32868877	32868877	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr20:32868877C>T	ENST00000217426.2	-	10	1339	c.1262G>A	c.(1261-1263)tGt>tAt	p.C421Y	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Missense_Mutation_p.C393Y|RP4-785G19.5_ENST00000512005.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	421					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGGCCATCACAGGACATGCC	0.597																																																	0			20											69.0	56.0	60.0					20																	32868877		2203	4300	6503	32332538	SO:0001583	missense	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1262G>A	20.37:g.32868877C>T	ENSP00000217426:p.Cys421Tyr		32332538	A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521188	0.27211	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.75938	-0.98;-0.98	4.79	0.0596	0.14333	.	1.155360	0.06152	N	0.674434	T	0.56877	0.2015	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.48937	-0.8990	10	0.72032	D	0.01	.	1.4322	0.02336	0.262:0.3216:0.2681:0.1483	.	421	P23526	SAHH_HUMAN	Y	421;393	ENSP00000217426:C421Y;ENSP00000442820:C393Y	ENSP00000217426:C421Y	C	-	2	0	AHCY	32332538	0.000000	0.05858	0.002000	0.10522	0.978000	0.69477	-0.978000	0.03778	0.265000	0.21872	0.650000	0.86243	TGT		0.597	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687	
PABPC1L	80336	hgsc.bcm.edu	37	20	43567344	43567344	+	Silent	SNP	A	A	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr20:43567344A>T	ENST00000217073.2	+	14	1806	c.1806A>T	c.(1804-1806)gcA>gcT	p.A602A	PABPC1L_ENST00000255136.3_Silent_p.A602A|PABPC1L_ENST00000372824.1_Silent_p.A156A|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000217075.2_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	602	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCTGCAGGCACACCAGGCTA	0.572																																																	0			20											40.0	38.0	39.0					20																	43567344		1568	3581	5149	43000758	SO:0001819	synonymous_variant	80336			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1806A>T	20.37:g.43567344A>T			43000758	Q4VY17	Silent	SNP	ENST00000217073.2	37	CCDS42878.1																																																																																				0.572	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
RAB2B	84932	hgsc.bcm.edu	37	14	21931835	21931835	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr14:21931835T>C	ENST00000397762.1	-	6	554	c.454A>G	c.(454-456)Aca>Gca	p.T152A	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	152					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TTGCAGGCTGTTTTGGCTGAA	0.438																																					Melanoma(131;1007 1750 28652 34486 42672)												0			14											143.0	132.0	136.0					14																	21931835		2203	4300	6503	21001675	SO:0001583	missense	84932			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.454A>G	14.37:g.21931835T>C	ENSP00000380869:p.Thr152Ala		21001675	B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261608	0.80358	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	D	0.81739	-1.53	6.01	6.01	0.97437	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.84106	0.5399	M	0.83774	2.66	0.58432	D	0.999999	B;B;B	0.23377	0.004;0.053;0.084	B;B;B	0.31337	0.037;0.128;0.073	T	0.82561	-0.0396	10	0.66056	D	0.02	.	15.5031	0.75716	0.0:0.0:0.0:1.0	.	152;106;87	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	A	152	ENSP00000380869:T152A	ENSP00000302005:T152A	T	-	1	0	RAB2B	21001675	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.676000	0.68131	2.299000	0.77371	0.533000	0.62120	ACA		0.438	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4		
C14orf28	122525	hgsc.bcm.edu	37	14	45373648	45373648	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr14:45373648C>A	ENST00000325192.3	+	4	940	c.665C>A	c.(664-666)cCc>cAc	p.P222H	C14orf28_ENST00000553841.1_3'UTR|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.P192H	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	222										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						CATGGGGCACCCCCTTTTGTT	0.403																																																	0			14											184.0	179.0	181.0					14																	45373648		2203	4300	6503	44443398	SO:0001583	missense	122525			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.665C>A	14.37:g.45373648C>A	ENSP00000326846:p.Pro222His		44443398		Missense_Mutation	SNP	ENST00000325192.3	37	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552591	0.65425	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.65732	-0.17;-0.17	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72541	-0.4262	10	0.87932	D	0	.	17.9074	0.88923	0.0:1.0:0.0:0.0	.	222	Q4W4Y0	CN028_HUMAN	H	222;192	ENSP00000326846:P222H;ENSP00000451791:P192H	ENSP00000326846:P222H	P	+	2	0	C14orf28	44443398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.119000	0.71590	2.835000	0.97688	0.591000	0.81541	CCC		0.403	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923	
FBXO34	55030	hgsc.bcm.edu	37	14	55818419	55818419	+	Silent	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr14:55818419A>G	ENST00000313833.4	+	2	1556	c.1311A>G	c.(1309-1311)agA>agG	p.R437R	FBXO34_ENST00000440021.1_Silent_p.R437R	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	437										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTATGAGCAGAGAGCTTGTGT	0.428																																																	0			14											136.0	128.0	131.0					14																	55818419		2203	4300	6503	54888172	SO:0001819	synonymous_variant	55030			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1311A>G	14.37:g.55818419A>G			54888172	Q2VPB5|Q4VBP5|Q86TY4	Silent	SNP	ENST00000313833.4	37	CCDS32086.1																																																																																				0.428	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1		
KDM4B	23030	hgsc.bcm.edu	37	19	5151356	5151356	+	Missense_Mutation	SNP	C	C	T	rs200961372		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:5151356C>T	ENST00000159111.4	+	23	3343	c.3125C>T	c.(3124-3126)aCg>aTg	p.T1042M	KDM4B_ENST00000536461.1_Missense_Mutation_p.T1076M	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1042					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCACTGAGCACGGGGGCACCG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		13726	0.0		0.001	False		,,,				2504	0.0																0			19											7.0	9.0	9.0					19																	5151356		2047	4085	6132	5102356	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.3125C>T	19.37:g.5151356C>T	ENSP00000159111:p.Thr1042Met		5102356	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289273	0.40494	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.78246	-1.16;-1.16	5.0	5.0	0.66597	.	0.615885	0.16421	N	0.215178	D	0.86285	0.5896	M	0.71581	2.175	0.36510	D	0.869549	D;D	0.89917	0.999;1.0	P;D	0.68621	0.83;0.959	D	0.89270	0.3604	10	0.87932	D	0	-26.0473	13.1242	0.59344	0.0:0.8395:0.1605:0.0	.	1076;1042	F5GX28;O94953	.;KDM4B_HUMAN	M	1042;1076	ENSP00000159111:T1042M;ENSP00000440495:T1076M	ENSP00000159111:T1042M	T	+	2	0	KDM4B	5102356	0.990000	0.36364	0.961000	0.40146	0.328000	0.28507	2.973000	0.49264	2.304000	0.77564	0.549000	0.68633	ACG		0.701	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015	
ZNF559	84527	hgsc.bcm.edu	37	19	9453118	9453118	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:9453118G>A	ENST00000393883.2	+	6	1639	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	ZNF559_ENST00000538743.1_Missense_Mutation_p.G251R|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.G331R|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000587557.1_Missense_Mutation_p.G395R|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CAACAAATGTGGGAAAGCCTT	0.383																																																	0			19											67.0	65.0	65.0					19																	9453118		2203	4300	6503	9314118	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.991G>A	19.37:g.9453118G>A	ENSP00000377461:p.Gly331Arg		9314118	K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225446	0.58668	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.22743	1.94;1.94	2.14	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46014	0.1371	M	0.85542	2.76	0.28564	N	0.910999	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.80764	0.94;0.994;0.698	T	0.31641	-0.9936	9	0.72032	D	0.01	.	8.6304	0.33915	0.0:0.239:0.761:0.0	.	331;331;251	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	R	331;251;331	ENSP00000442832:G251R;ENSP00000377461:G331R	ENSP00000325393:G331R	G	+	1	0	ZNF559	9314118	1.000000	0.71417	0.179000	0.23059	0.220000	0.24768	4.029000	0.57253	0.441000	0.26529	0.462000	0.41574	GGG		0.383	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497	
ATG4D	84971	hgsc.bcm.edu	37	19	10664680	10664680	+	IGR	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:10664680G>A	ENST00000309469.4	+	0	1949				KRI1_ENST00000361821.5_Missense_Mutation_p.R689C|MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA|KRI1_ENST00000312962.6_Missense_Mutation_p.R693C	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAGCTGGCGGAAGTGCAGC	0.642																																																	0			19											28.0	29.0	29.0					19																	10664680		2203	4300	6503	10525680	SO:0001628	intergenic_variant	65095			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10664680G>A			10525680	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401300	0.83120	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.23147	2.26;1.92	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.68952	2.095	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.54139	-0.8338	10	0.87932	D	0	-22.302	16.9839	0.86335	0.0:0.0:1.0:0.0	.	693;689	Q8N9T8;D3YTE0	KRI1_HUMAN;.	C	693;689	ENSP00000320917:R693C;ENSP00000355366:R689C	ENSP00000320917:R693C	R	-	1	0	KRI1	10525680	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.319000	0.65835	2.310000	0.77875	0.655000	0.94253	CGC		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
CPAMD8	27151	hgsc.bcm.edu	37	19	17038952	17038952	+	Silent	SNP	G	G	A	rs193127821		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:17038952G>A	ENST00000443236.1	-	25	3409	c.3378C>T	c.(3376-3378)acC>acT	p.T1126T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1079						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCCCAGCCGGTGGAAAAGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19279	0.001		0.0	False		,,,				2504	0.0																0			19						G		0,3820		0,0,1910	49.0	55.0	53.0		3378	-6.1	1.0	19		53	2,8242		0,2,4120	no	coding-synonymous	CPAMD8	NM_015692.2		0,2,6030	AA,AG,GG		0.0243,0.0,0.0166		1126/1933	17038952	2,12062	1910	4122	6032	16899952	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3378C>T	19.37:g.17038952G>A			16899952	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.017	0.758796	0.15846	0.0	2.43E-4	ENSG00000160111	ENST00000443236	.	.	.	3.02	-6.05	0.02172	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42666	-0.9438	4	.	.	.	.	0.0392	0.00008	0.3168:0.1919:0.2217:0.2696	.	.	.	.	L	1137	.	.	P	-	2	0	CPAMD8	16899952	0.829000	0.29322	0.992000	0.48379	0.829000	0.46940	-0.260000	0.08708	-0.806000	0.04398	-1.581000	0.00855	CCG		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
ZNF91	7644	hgsc.bcm.edu	37	19	23543952	23543952	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:23543952G>A	ENST00000300619.7	-	4	2034	c.1829C>T	c.(1828-1830)gCa>gTa	p.A610V	ZNF91_ENST00000397082.2_Missense_Mutation_p.A578V|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	610					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCATAGAAATGCTTTGCCACA	0.383																																																	0			19											59.0	62.0	61.0					19																	23543952		2181	4285	6466	23335792	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1829C>T	19.37:g.23543952G>A	ENSP00000300619:p.Ala610Val		23335792	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	8.991	0.977635	0.18812	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.19105	2.17;2.17	1.78	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	N	0.16602	0.42	0.18873	N	0.999987	D;P	0.58268	0.982;0.884	P;P	0.56751	0.805;0.482	T	0.08953	-1.0697	9	0.49607	T	0.09	.	3.8829	0.09086	0.3754:0.0:0.6246:0.0	.	578;610	Q05481-2;Q05481	.;ZNF91_HUMAN	V	610;578	ENSP00000300619:A610V;ENSP00000380272:A578V	ENSP00000300619:A610V	A	-	2	0	ZNF91	23335792	0.007000	0.16637	0.190000	0.23270	0.059000	0.15707	0.872000	0.28037	0.962000	0.38057	0.313000	0.20887	GCA		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
PDCD5	9141	hgsc.bcm.edu	37	19	33076809	33076809	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:33076809A>G	ENST00000590247.2	+	4	448	c.254A>G	c.(253-255)gAg>gGg	p.E85G	PDCD5_ENST00000586035.1_Missense_Mutation_p.E47G|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000419343.3_Missense_Mutation_p.E85G|PDCD5_ENST00000379316.3_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	85					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CAACTAAGTGAGAAGGTAAGC	0.363																																																	0			19											103.0	108.0	106.0					19																	33076809		2203	4300	6503	37768649	SO:0001583	missense	9141			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.254A>G	19.37:g.33076809A>G	ENSP00000466214:p.Glu85Gly		37768649	B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	5.109	0.205798	0.09704	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	4.57	0.56435	.	0.148836	0.64402	N	0.000011	T	0.15262	0.0368	N	0.00690	-1.25	0.37085	D	0.899182	B;B	0.09022	0.0;0.002	B;B	0.09377	0.004;0.004	T	0.29058	-1.0024	9	0.02654	T	1	-14.8081	12.4858	0.55872	0.083:0.0:0.917:0.0	.	85;85	O14737;B4DE64	PDCD5_HUMAN;.	G	85	.	ENSP00000221784:E85G	E	+	2	0	PDCD5	37768649	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.533000	0.73829	1.325000	0.45301	-0.468000	0.05107	GAG		0.363	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708	
RYR1	6261	hgsc.bcm.edu	37	19	39070725	39070725	+	Missense_Mutation	SNP	C	C	T	rs148540135		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:39070725C>T	ENST00000359596.3	+	100	14468	c.14468C>T	c.(14467-14469)aCg>aTg	p.T4823M	RYR1_ENST00000355481.4_Missense_Mutation_p.T4818M|RYR1_ENST00000360985.3_Missense_Mutation_p.T4818M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4823					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGTCAAGACGCTGCGCACC	0.597																																																	0			19	GRCh37	CM083554	RYR1	M	rs148540135	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	122.0	85.0	98.0		14468,14453	4.6	1.0	19	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	4823/5039,4818/5034	39070725	1,13005	2203	4300	6503	43762565	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14468C>T	19.37:g.39070725C>T	ENSP00000352608:p.Thr4823Met		43762565	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746556	0.49257	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98617	-5.03;-5.03;-5.03	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.99026	0.9667	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99342	1.0912	10	0.36615	T	0.2	.	17.129	0.86722	0.0:1.0:0.0:0.0	.	4818;4823	P21817-2;P21817	.;RYR1_HUMAN	M	4823;4818;4818	ENSP00000352608:T4823M;ENSP00000347667:T4818M;ENSP00000354254:T4818M	ENSP00000347667:T4818M	T	+	2	0	RYR1	43762565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.617000	0.83032	2.357000	0.79964	0.462000	0.41574	ACG		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
ZNF112	7771	hgsc.bcm.edu	37	19	44831844	44831844	+	Silent	SNP	T	T	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:44831844T>A	ENST00000337401.4	-	5	2572	c.2484A>T	c.(2482-2484)acA>acT	p.T828T	ZNF112_ENST00000536500.1_Silent_p.T845T|ZNF112_ENST00000354340.4_Silent_p.T822T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	828					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.T822T(1)									GTTTCTCTCCTGTGTGGACTC	0.463																																																	1	Substitution - coding silent(1)	ovary(1)	19											148.0	146.0	147.0					19																	44831844		2203	4300	6503	49523684	SO:0001819	synonymous_variant	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2484A>T	19.37:g.44831844T>A			49523684	A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	CCDS54276.1																																																																																				0.463	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
POLD1	5424	hgsc.bcm.edu	37	19	50918762	50918762	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:50918762A>G	ENST00000440232.2	+	21	2685	c.2632A>G	c.(2632-2634)Atc>Gtc	p.I878V	POLD1_ENST00000595904.1_Missense_Mutation_p.I904V|CTD-2545M3.6_ENST00000599632.1_5'Flank|POLD1_ENST00000599857.1_Missense_Mutation_p.I878V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	878					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCGCATCGATATCTCCCAGCT	0.672								DNA polymerases (catalytic subunits)																																									0			19											44.0	34.0	38.0					19																	50918762		2203	4299	6502	55610574	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2632A>G	19.37:g.50918762A>G	ENSP00000406046:p.Ile878Val		55610574	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427946	0.62733	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.15718	2.4	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.73962	2.25	0.80722	D	1	P;B	0.35575	0.51;0.201	B;B	0.42245	0.381;0.291	T	0.09751	-1.0660	10	0.72032	D	0.01	-29.3221	12.6607	0.56811	1.0:0.0:0.0:0.0	.	904;878	E7EVW0;P28340	.;DPOD1_HUMAN	V	878;879	ENSP00000406046:I878V	ENSP00000366129:I879V	I	+	1	0	POLD1	55610574	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	3.739000	0.55075	1.717000	0.51406	0.370000	0.22315	ATC		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		
ZNF160	90338	hgsc.bcm.edu	37	19	53573480	53573480	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:53573480G>C	ENST00000429604.1	-	7	722	c.307C>G	c.(307-309)Cca>Gca	p.P103A	ZNF160_ENST00000599056.1_Missense_Mutation_p.P103A|ZNF160_ENST00000601421.1_Missense_Mutation_p.P67A|ZNF160_ENST00000418871.1_Missense_Mutation_p.P103A	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	103					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCTCTTTTGGTAGCAAATCC	0.353																																																	0			19											78.0	76.0	76.0					19																	53573480		2202	4300	6502	58265292	SO:0001583	missense	90338			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.307C>G	19.37:g.53573480G>C	ENSP00000406201:p.Pro103Ala		58265292	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	7.492	0.650859	0.14516	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07021	3.23;3.23	2.39	-1.76	0.08006	.	.	.	.	.	T	0.04003	0.0112	L	0.27053	0.805	0.09310	N	1	B	0.25667	0.131	B	0.19666	0.026	T	0.44982	-0.9292	9	0.18276	T	0.48	.	0.4628	0.00519	0.2685:0.1932:0.3424:0.1959	.	103	Q9HCG1	ZN160_HUMAN	A	103	ENSP00000406201:P103A;ENSP00000409597:P103A	ENSP00000409597:P103A	P	-	1	0	ZNF160	58265292	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.494000	0.06451	-0.444000	0.07170	-0.258000	0.10820	CCA		0.353	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
PEG3	5178	hgsc.bcm.edu	37	19	57328632	57328632	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr19:57328632C>A	ENST00000326441.9	-	10	1541	c.1178G>T	c.(1177-1179)cGc>cTc	p.R393L	PEG3_ENST00000593695.1_Missense_Mutation_p.R267L|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R393L|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R269L|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	393					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAATGATAGCGCCTCTTTCT	0.453																																																	0			19											107.0	112.0	110.0					19																	57328632		2203	4300	6503	62020444	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1178G>T	19.37:g.57328632C>A	ENSP00000326581:p.Arg393Leu		62020444	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411927	0.62511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02345	4.33;4.33	4.35	2.18	0.27775	.	0.000000	0.45361	D	0.000378	T	0.04137	0.0115	L	0.34521	1.04	.	.	.	P;P;D	0.61697	0.956;0.915;0.99	P;P;P	0.54629	0.682;0.535;0.757	T	0.44081	-0.9351	9	0.22109	T	0.4	-26.0019	6.4559	0.21930	0.0:0.5439:0.3586:0.0975	.	269;393;328	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	393;393;363	ENSP00000326581:R393L;ENSP00000403051:R393L	ENSP00000292074:R363L	R	-	2	0	ZIM2	62020444	0.196000	0.23350	0.996000	0.52242	0.935000	0.57460	0.300000	0.19156	0.748000	0.32831	0.655000	0.94253	CGC		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
MCM4	4173	hgsc.bcm.edu	37	8	48883167	48883167	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:48883167G>A	ENST00000262105.2	+	11	1740	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	MCM4_ENST00000523944.1_Missense_Mutation_p.D511N|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	511	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.D511N(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GCTGTGTGGCGACCCTGGTAC	0.552																																																	1	Substitution - Missense(1)	ovary(1)	8											112.0	98.0	102.0					8																	48883167		2203	4300	6503	49045720	SO:0001583	missense	4173				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1531G>A	8.37:g.48883167G>A	ENSP00000262105:p.Asp511Asn		49045720	Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416122	0.96092	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.15139	2.45;2.45;2.45	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.082144	0.85682	D	0.000000	T	0.67230	0.2871	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82037	-0.0656	10	0.87932	D	0	-39.4048	20.8794	0.99867	0.0:0.0:1.0:0.0	.	511;511	B3KMX0;P33991	.;MCM4_HUMAN	N	511;511;498;471;229	ENSP00000430194:D511N;ENSP00000262105:D511N;ENSP00000427875:D229N	ENSP00000262105:D511N	D	+	1	0	MCM4	49045720	1.000000	0.71417	0.995000	0.50966	0.708000	0.40852	9.790000	0.99075	2.941000	0.99782	0.655000	0.94253	GAC		0.552	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914	
PDE7A	5150	hgsc.bcm.edu	37	8	66691991	66691991	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:66691991C>T	ENST00000401827.3	-	3	690	c.247G>A	c.(247-249)Ggt>Agt	p.G83S	PDE7A_ENST00000379419.4_Missense_Mutation_p.G57S|PDE7A_ENST00000396642.3_Missense_Mutation_p.G83S	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	83					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GGGTGAGAACCTCTTCTTTCT	0.358																																																	0			8											123.0	128.0	127.0					8																	66691991		2203	4300	6503	66854545	SO:0001583	missense	5150			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.247G>A	8.37:g.66691991C>T	ENSP00000385632:p.Gly83Ser		66854545	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801104	0.70567	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642;ENST00000523253	T;T;T;T	0.70045	-0.45;-0.42;-0.45;0.73	5.87	5.87	0.94306	.	0.397956	0.27388	N	0.019582	T	0.56470	0.1987	L	0.31065	0.9	0.43372	D	0.995465	B;B;B	0.23891	0.093;0.092;0.002	B;B;B	0.27715	0.047;0.082;0.005	T	0.52041	-0.8628	10	0.09084	T	0.74	.	18.9794	0.92749	0.0:1.0:0.0:0.0	.	83;83;57	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	S	83;57;83;57	ENSP00000385632:G83S;ENSP00000368730:G57S;ENSP00000379881:G83S;ENSP00000430262:G57S	ENSP00000368730:G57S	G	-	1	0	PDE7A	66854545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.654000	0.61469	2.781000	0.95711	0.655000	0.94253	GGT		0.358	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1		
MMP16	4325	hgsc.bcm.edu	37	8	89198818	89198818	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:89198818C>A	ENST00000286614.6	-	3	572	c.291G>T	c.(289-291)aaG>aaT	p.K97N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	97					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATCGGGGCTTCTTCATCCAGC	0.363																																																	0			8											125.0	113.0	117.0					8																	89198818		2203	4300	6503	89267934	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.291G>T	8.37:g.89198818C>A	ENSP00000286614:p.Lys97Asn		89267934	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787989	0.49997	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.39406	1.08;1.08	5.72	4.85	0.62838	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.093928	0.64402	D	0.000001	T	0.39436	0.1078	L	0.54863	1.705	0.51012	D	0.999903	B;B	0.19445	0.036;0.023	B;B	0.23419	0.042;0.046	T	0.28681	-1.0036	10	0.54805	T	0.06	.	10.7208	0.46040	0.0:0.8546:0.0:0.1454	.	97;97	P51512-2;P51512	.;MMP16_HUMAN	N	97;114	ENSP00000286614:K97N;ENSP00000429147:K114N	ENSP00000286614:K97N	K	-	3	2	MMP16	89267934	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.910000	0.48766	1.428000	0.47296	0.585000	0.79938	AAG		0.363	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
RIMS2	9699	hgsc.bcm.edu	37	8	104973341	104973341	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:104973341A>G	ENST00000436393.2	+	13	2325	c.2084A>G	c.(2083-2085)gAt>gGt	p.D695G	RIMS2_ENST00000406091.3_Missense_Mutation_p.D917G|RIMS2_ENST00000262231.10_Missense_Mutation_p.D756G|RIMS2_ENST00000507740.1_Missense_Mutation_p.D709G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	979	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACTGTGATGATGGAATTGGT	0.274										HNSCC(12;0.0054)																																							0			8											104.0	112.0	110.0					8																	104973341		1800	4056	5856	105042517	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2084A>G	8.37:g.104973341A>G	ENSP00000390665:p.Asp695Gly		105042517	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	A	21.5	4.162935	0.78226	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.36157	1.27;1.81;1.58;1.55;1.54;1.77	5.71	5.71	0.89125	.	.	.	.	.	T	0.59742	0.2216	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.984;0.997;0.999;0.999;0.999	D;D;D;D;D;D	0.79784	0.984;0.966;0.993;0.989;0.986;0.991	T	0.63541	-0.6614	9	0.66056	D	0.02	.	13.5005	0.61452	1.0:0.0:0.0:0.0	.	979;979;695;756;709;917	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	G	917;932;917;979;756;709;709;695	ENSP00000427018:D917G;ENSP00000384892:D917G;ENSP00000262231:D756G;ENSP00000423559:D709G;ENSP00000386228:D709G;ENSP00000390665:D695G	ENSP00000262231:D756G	D	+	2	0	RIMS2	105042517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.042000	0.76565	2.189000	0.69895	0.402000	0.26972	GAT		0.274	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DCSTAMP	81501	hgsc.bcm.edu	37	8	105361283	105361283	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:105361283A>C	ENST00000297581.2	+	2	552	c.503A>C	c.(502-504)aAc>aCc	p.N168T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.N168T	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	168					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GTTTCTTGGAACCAGACCCTG	0.453																																																	0			8											94.0	94.0	94.0					8																	105361283		2203	4300	6503	105430459	SO:0001583	missense	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.503A>C	8.37:g.105361283A>C	ENSP00000297581:p.Asn168Thr		105430459	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993745	0.35131	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.30448	1.53	5.7	5.7	0.88788	.	0.747051	0.13908	N	0.354434	T	0.32406	0.0828	L	0.60455	1.87	0.37234	D	0.905811	B	0.22346	0.068	B	0.15870	0.014	T	0.16247	-1.0409	9	.	.	.	-10.6139	14.541	0.67995	1.0:0.0:0.0:0.0	.	168	Q9H295	TM7S4_HUMAN	T	168	ENSP00000297581:N168T	.	N	+	2	0	TM7SF4	105430459	0.843000	0.29541	0.999000	0.59377	0.998000	0.95712	1.604000	0.36804	2.189000	0.69895	0.459000	0.35465	AAC		0.453	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
ZFPM2	23414	hgsc.bcm.edu	37	8	106814187	106814187	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:106814187T>A	ENST00000407775.2	+	8	2127	c.1877T>A	c.(1876-1878)aTc>aAc	p.I626N	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.I494N|ZFPM2_ENST00000517361.1_Missense_Mutation_p.I494N|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.I357N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	626					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I626S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACATCTTGCATCAATTCTTCC	0.448																																																	1	Substitution - Missense(1)	kidney(1)	8											87.0	82.0	84.0					8																	106814187		1900	4143	6043	106883363	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1877T>A	8.37:g.106814187T>A	ENSP00000384179:p.Ile626Asn		106883363	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053056	0.55218	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20463	2.07;2.52;2.52;3.78	5.86	5.86	0.93980	.	0.219510	0.46758	D	0.000279	T	0.17450	0.0419	L	0.27053	0.805	0.51233	D	0.999919	B	0.31790	0.34	B	0.33890	0.172	T	0.08186	-1.0734	10	0.19590	T	0.45	.	16.2479	0.82454	0.0:0.0:0.0:1.0	.	626	Q8WW38	FOG2_HUMAN	N	626;494;494;357	ENSP00000384179:I626N;ENSP00000430757:I494N;ENSP00000428720:I494N;ENSP00000367733:I357N	ENSP00000367733:I357N	I	+	2	0	ZFPM2	106883363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.241000	0.73720	0.533000	0.62120	ATC		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
CSMD3	114788	hgsc.bcm.edu	37	8	113871405	113871405	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:113871405A>G	ENST00000297405.5	-	11	1968	c.1724T>C	c.(1723-1725)gTc>gCc	p.V575A	CSMD3_ENST00000455883.2_Missense_Mutation_p.V471A|CSMD3_ENST00000343508.3_Missense_Mutation_p.V535A|CSMD3_ENST00000352409.3_Missense_Mutation_p.V575A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	575	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGACCCAGACACATTGTGC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0			8											148.0	133.0	138.0					8																	113871405		2203	4299	6502	113940581	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1724T>C	8.37:g.113871405A>G	ENSP00000297405:p.Val575Ala		113940581	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322555	0.81580	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.67	5.67	0.87782	CUB (5);	0.000000	0.64402	D	0.000007	T	0.50360	0.1611	M	0.70595	2.14	0.42474	D	0.992835	D;D;P	0.69078	0.997;0.996;0.814	D;D;P	0.85130	0.967;0.997;0.9	T	0.51694	-0.8673	10	0.05620	T	0.96	.	15.9132	0.79488	1.0:0.0:0.0:0.0	.	471;575;535	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	535;575;471;575	ENSP00000345799:V535A;ENSP00000297405:V575A;ENSP00000412263:V471A;ENSP00000343124:V575A	ENSP00000297405:V575A	V	-	2	0	CSMD3	113940581	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	9.251000	0.95483	2.154000	0.67381	0.482000	0.46254	GTC		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TG	7038	hgsc.bcm.edu	37	8	133900728	133900728	+	Silent	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:133900728T>C	ENST00000220616.4	+	10	2716	c.2676T>C	c.(2674-2676)caT>caC	p.H892H	TG_ENST00000377869.1_Silent_p.H892H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	892	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.H892H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTTGGCACATTTTGATCTTC	0.517																																																	1	Substitution - coding silent(1)	ovary(1)	8											38.0	37.0	37.0					8																	133900728		2203	4300	6503	133969910	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2676T>C	8.37:g.133900728T>C			133969910	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
BAI1	575	hgsc.bcm.edu	37	8	143614743	143614743	+	Silent	SNP	C	C	T	rs374683811	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr8:143614743C>T	ENST00000517894.1	+	25	4380	c.3486C>T	c.(3484-3486)tcC>tcT	p.S1162S	BAI1_ENST00000323289.5_Silent_p.S1162S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1162					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCGCCGCTCCGCCCTCTTCC	0.657																																																	0			8											25.0	33.0	31.0					8																	143614743		2198	4296	6494	143611745	SO:0001819	synonymous_variant	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3486C>T	8.37:g.143614743C>T			143611745		Silent	SNP	ENST00000517894.1	37																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	
HSPG2	3339	hgsc.bcm.edu	37	1	22151218	22151218	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:22151218G>A	ENST00000374695.3	-	92	12723	c.12644C>T	c.(12643-12645)cCt>cTt	p.P4215L	HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4215	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACATGGCCAGGGAAGGCGAG	0.597																																																	0			1											88.0	73.0	78.0					1																	22151218		2202	4300	6502	22023805	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12644C>T	1.37:g.22151218G>A	ENSP00000363827:p.Pro4215Leu		22023805	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588727	0.86851	.	.	ENSG00000142798	ENST00000374695	T	0.71341	-0.56	4.74	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.39146	N	0.001460	D	0.84719	0.5534	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	D	0.87145	0.2205	10	0.66056	D	0.02	.	15.2396	0.73458	0.0:0.0:1.0:0.0	.	2155;4215	Q59EG0;P98160	.;PGBM_HUMAN	L	4215	ENSP00000363827:P4215L	ENSP00000363827:P4215L	P	-	2	0	HSPG2	22023805	1.000000	0.71417	0.083000	0.20561	0.011000	0.07611	8.789000	0.91839	2.194000	0.70268	0.462000	0.41574	CCT		0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	
PTPN22	26191	hgsc.bcm.edu	37	1	114401688	114401688	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:114401688C>T	ENST00000359785.5	-	3	344	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000420377.2_Missense_Mutation_p.R70Q|PTPN22_ENST00000534519.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.R70Q|PTPN22_ENST00000460620.1_Missense_Mutation_p.R70Q|PTPN22_ENST00000525799.1_Missense_Mutation_p.R70Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	70	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.R70P(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGTTCTACCCGGCTATAATC	0.368																																																	1	Substitution - Missense(1)	kidney(1)	1											62.0	62.0	62.0					1																	114401688		2203	4300	6503	114203211	SO:0001583	missense	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.209G>A	1.37:g.114401688C>T	ENSP00000352833:p.Arg70Gln		114203211	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595614	0.86953	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;D;T;D;T	0.88509	1.59;-2.39;1.59;-2.39;1.51	5.28	-0.805	0.10879	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.386006	0.24059	N	0.041937	D	0.94709	0.8293	H	0.95043	3.615	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.997;1.0	D;D;D;D;P;D	0.77004	0.957;0.935;0.968;0.981;0.9;0.989	D	0.95489	0.8567	10	0.72032	D	0.01	.	15.9978	0.80265	0.6366:0.3634:0.0:0.0	.	70;70;70;70;70;70	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	Q	70	ENSP00000433141:R70Q;ENSP00000352833:R70Q;ENSP00000435176:R70Q;ENSP00000388229:R70Q;ENSP00000432674:R70Q	ENSP00000346621:R70Q	R	-	2	0	PTPN22	114203211	0.906000	0.30813	0.937000	0.37676	0.832000	0.47134	0.723000	0.25939	-0.338000	0.08413	0.563000	0.77884	CGG		0.368	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
CGN	57530	hgsc.bcm.edu	37	1	151509309	151509309	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:151509309A>G	ENST00000271636.7	+	20	3543	c.3410A>G	c.(3409-3411)gAg>gGg	p.E1137G		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1131					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGTGGAGGAGCAGCATGAG	0.562																																																	0			1											143.0	147.0	146.0					1																	151509309		2203	4300	6503	149775933	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3410A>G	1.37:g.151509309A>G	ENSP00000271636:p.Glu1137Gly		149775933	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	CCDS999.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843265	0.91197	.	.	ENSG00000143375	ENST00000271636	T	0.80909	-1.43	5.41	5.41	0.78517	Myosin tail (1);	0.099528	0.64402	D	0.000002	D	0.88633	0.6489	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90747	0.4654	10	0.87932	D	0	-26.8742	14.2703	0.66147	1.0:0.0:0.0:0.0	.	1131	Q9P2M7	CING_HUMAN	G	1137	ENSP00000271636:E1137G	ENSP00000271636:E1137G	E	+	2	0	CGN	149775933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.138000	0.94501	2.055000	0.61198	0.533000	0.62120	GAG		0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
CRNN	49860	hgsc.bcm.edu	37	1	152383391	152383391	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:152383391T>C	ENST00000271835.3	-	3	229	c.167A>G	c.(166-168)gAg>gGg	p.E56G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	56	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGCAGGACCTCATCCACAGT	0.532																																																	0			1											40.0	40.0	40.0					1																	152383391		2186	4276	6462	150650015	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.167A>G	1.37:g.152383391T>C	ENSP00000271835:p.Glu56Gly		150650015	B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637784	0.47049	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.15256	2.44	4.73	4.73	0.59995	EF-hand-like domain (1);	0.298666	0.23803	N	0.044401	T	0.16727	0.0402	L	0.60067	1.865	0.32174	N	0.581301	D	0.63880	0.993	P	0.53954	0.738	T	0.02805	-1.1108	10	0.56958	D	0.05	.	10.5413	0.45035	0.0:0.0:0.0:1.0	.	56	Q9UBG3	CRNN_HUMAN	G	56	ENSP00000271835:E56G	ENSP00000271835:E56G	E	-	2	0	CRNN	150650015	0.983000	0.35010	0.998000	0.56505	0.133000	0.20885	2.432000	0.44784	1.983000	0.57843	0.254000	0.18369	GAG		0.532	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190	
S100A7	6278	hgsc.bcm.edu	37	1	153430384	153430384	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:153430384C>A	ENST00000368723.3	-	3	314	c.204G>T	c.(202-204)aaG>aaT	p.K68N	S100A7_ENST00000368722.1_Missense_Mutation_p.K68N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATCAATCTTCTTATCCTCAT	0.443																																																	0			1											105.0	94.0	97.0					1																	153430384		2203	4300	6503	151697008	SO:0001583	missense	6278			BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.204G>T	1.37:g.153430384C>A	ENSP00000357712:p.Lys68Asn		151697008	Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	11.00	1.510539	0.27036	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06142	3.34;3.34	1.77	1.77	0.24775	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.03348	0.0097	L	0.33792	1.035	0.09310	N	1	D	0.63880	0.993	P	0.57468	0.821	T	0.42481	-0.9449	9	0.15066	T	0.55	.	7.0818	0.25235	0.0:1.0:0.0:0.0	.	68	P31151	S10A7_HUMAN	N	68	ENSP00000357712:K68N;ENSP00000357711:K68N	ENSP00000357711:K68N	K	-	3	2	S100A7	151697008	0.001000	0.12720	0.051000	0.19133	0.173000	0.22820	-0.033000	0.12246	1.321000	0.45227	0.194000	0.17425	AAG		0.443	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963	
PKP1	5317	hgsc.bcm.edu	37	1	201286871	201286871	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:201286871A>G	ENST00000352845.3	+	5	1018	c.1018A>G	c.(1018-1020)Aga>Gga	p.R340G	PKP1_ENST00000367324.3_Missense_Mutation_p.R340G|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Missense_Mutation_p.R340G			Q13835	PKP1_HUMAN	plakophilin 1	340					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCTCCTGAGGAGAACCGGGAA	0.652																																																	0			1											32.0	34.0	33.0					1																	201286871		2203	4300	6503	199553494	SO:0001583	missense	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1018A>G	1.37:g.201286871A>G	ENSP00000295597:p.Arg340Gly		199553494	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619577	0.46736	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.48836	0.8;0.8;0.8	5.24	4.09	0.47781	Armadillo-like helical (1);Armadillo-type fold (1);	0.297519	0.42172	D	0.000749	T	0.46619	0.1402	M	0.69358	2.11	0.28386	N	0.919327	B;B	0.26258	0.019;0.145	B;B	0.23419	0.033;0.046	T	0.48222	-0.9054	10	0.62326	D	0.03	-11.3622	12.402	0.55418	0.8596:0.1404:0.0:0.0	.	340;340	Q13835-2;Q13835	.;PKP1_HUMAN	G	340	ENSP00000356293:R340G;ENSP00000263946:R340G;ENSP00000295597:R340G	ENSP00000263946:R340G	R	+	1	2	PKP1	199553494	1.000000	0.71417	0.939000	0.37840	0.791000	0.44710	4.213000	0.58520	0.809000	0.34255	0.451000	0.29950	AGA		0.652	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299	
ATP2B4	493	hgsc.bcm.edu	37	1	203708819	203708819	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:203708819A>G	ENST00000357681.5	+	21	4578	c.3455A>G	c.(3454-3456)gAg>gGg	p.E1152G	ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1188					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.E1152V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGAGGAAGAGGAGGAAAAT	0.498																																																	1	Substitution - Missense(1)	ovary(1)	1											123.0	110.0	114.0					1																	203708819		2203	4300	6503	201975442	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3455A>G	1.37:g.203708819A>G	ENSP00000350310:p.Glu1152Gly		201975442	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012101	0.54468	.	.	ENSG00000058668	ENST00000357681	T	0.79554	-1.28	5.46	5.46	0.80206	.	1.166840	0.06393	N	0.717426	T	0.77558	0.4148	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.57717	-0.7763	10	0.51188	T	0.08	-11.0127	15.1947	0.73078	1.0:0.0:0.0:0.0	.	1152	P23634-6	.	G	1152	ENSP00000350310:E1152G	ENSP00000350310:E1152G	E	+	2	0	ATP2B4	201975442	1.000000	0.71417	0.966000	0.40874	0.400000	0.30750	2.550000	0.45811	2.077000	0.62373	0.533000	0.62120	GAG		0.498	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
LYST	1130	hgsc.bcm.edu	37	1	235969926	235969926	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:235969926G>T	ENST00000389794.3	-	6	2684	c.2510C>A	c.(2509-2511)cCa>cAa	p.P837Q	LYST_ENST00000536965.1_Missense_Mutation_p.P837Q|LYST_ENST00000389793.2_Missense_Mutation_p.P837Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	837					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCAATATCTGGAACTGAGGC	0.388																																																	0			1											225.0	215.0	218.0					1																	235969926		2203	4300	6503	234036549	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2510C>A	1.37:g.235969926G>T	ENSP00000374444:p.Pro837Gln		234036549	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469893	0.26423	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61040	0.14;0.14;1.28	5.48	3.58	0.41010	.	0.407398	0.28140	N	0.016444	T	0.54255	0.1847	L	0.43152	1.355	0.24121	N	0.995807	B;B	0.31680	0.335;0.033	B;B	0.40901	0.343;0.012	T	0.48186	-0.9057	10	0.35671	T	0.21	.	11.9722	0.53069	0.1441:0.0:0.8559:0.0	.	837;837	Q99698-3;Q99698	.;LYST_HUMAN	Q	837	ENSP00000374444:P837Q;ENSP00000374443:P837Q;ENSP00000438315:P837Q	ENSP00000374443:P837Q	P	-	2	0	LYST	234036549	0.997000	0.39634	0.006000	0.13384	0.953000	0.61014	2.433000	0.44793	0.673000	0.31224	0.655000	0.94253	CCA		0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
OR2G2	81470	hgsc.bcm.edu	37	1	247751751	247751751	+	Silent	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:247751751A>G	ENST00000320065.1	+	1	90	c.90A>G	c.(88-90)ctA>ctG	p.L30L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAGGTTCTATTTGTGCTCA	0.393																																																	0			1											213.0	205.0	208.0					1																	247751751		2203	4300	6503	245818374	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.90A>G	1.37:g.247751751A>G			245818374	Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	CCDS31092.1																																																																																				0.393	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1		
MRGPRX3	117195	hgsc.bcm.edu	37	11	18159317	18159317	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:18159317G>A	ENST00000396275.2	+	3	929	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V190F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTATGTGTGGTTCTCTGTGG	0.507																																																	1	Substitution - Missense(1)	ovary(1)	11											142.0	132.0	135.0					11																	18159317		2200	4293	6493	18115893	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.568G>A	11.37:g.18159317G>A	ENSP00000379571:p.Val190Ile		18115893	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	9.109	1.006023	0.19199	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.72394	-0.65;-0.65	1.46	-2.82	0.05787	GPCR, rhodopsin-like superfamily (1);	1.016490	0.07876	N	0.968818	T	0.71108	0.3301	M	0.80422	2.495	0.21184	N	0.999766	P	0.35107	0.484	B	0.42245	0.381	T	0.63994	-0.6511	10	0.59425	D	0.04	.	3.679	0.08304	0.3211:0.2105:0.4685:0.0	.	190	Q96LB0	MRGX3_HUMAN	I	190	ENSP00000379571:V190I;ENSP00000436242:V190I	ENSP00000379571:V190I	V	+	1	0	MRGPRX3	18115893	0.420000	0.25457	0.030000	0.17652	0.017000	0.09413	-0.327000	0.07955	-0.873000	0.04032	0.430000	0.28490	GTT		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
OR4C13	283092	hgsc.bcm.edu	37	11	49974035	49974035	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:49974035A>C	ENST00000555099.1	+	1	93	c.61A>C	c.(61-63)Atg>Ctg	p.M21L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GAATCCAAAAATGCAGAAAAT	0.373																																																	0			11											128.0	124.0	125.0					11																	49974035		2201	4296	6497	49930611	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.61A>C	11.37:g.49974035A>C	ENSP00000452277:p.Met21Leu		49930611	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.530380	0.00145	.	.	ENSG00000258817	ENST00000555099	T	0.02656	4.21	2.95	-1.24	0.09435	.	0.000000	0.43579	U	0.000551	T	0.00875	0.0029	N	0.01228	-0.945	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47824	-0.9087	9	.	.	.	.	4.7536	0.13073	0.5191:0.3617:0.1192:0.0	.	21	Q8NGP0	OR4CD_HUMAN	L	21	ENSP00000452277:M21L	.	M	+	1	0	OR4C13	49930611	0.002000	0.14202	0.498000	0.27564	0.115000	0.19883	0.049000	0.14099	-0.017000	0.14103	-1.331000	0.01271	ATG		0.373	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR4C13	283092	hgsc.bcm.edu	37	11	49974351	49974351	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:49974351A>C	ENST00000555099.1	+	1	409	c.377A>C	c.(376-378)aAg>aCg	p.K126T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCATCTGCAAGCCCTTGCAC	0.463																																																	0			11											115.0	103.0	107.0					11																	49974351		2201	4296	6497	49930927	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.377A>C	11.37:g.49974351A>C	ENSP00000452277:p.Lys126Thr		49930927	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	7.049	0.564051	0.13498	.	.	ENSG00000258817	ENST00000555099	T	0.00382	7.61	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	T	0.00637	0.0021	M	0.92649	3.33	0.25951	N	0.982744	B	0.32573	0.376	B	0.39935	0.314	T	0.05750	-1.0866	9	.	.	.	.	9.2896	0.37778	1.0:0.0:0.0:0.0	.	126	Q8NGP0	OR4CD_HUMAN	T	126	ENSP00000452277:K126T	.	K	+	2	0	OR4C13	49930927	0.068000	0.21057	0.998000	0.56505	0.031000	0.12232	2.483000	0.45233	1.346000	0.45694	0.164000	0.16699	AAG		0.463	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR4A15	81328	hgsc.bcm.edu	37	11	55135463	55135463	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:55135463A>G	ENST00000314706.3	+	1	104	c.104A>G	c.(103-105)aAc>aGc	p.N35S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAAAATAAGAACAATGTGACT	0.393																																																	0			11											67.0	63.0	64.0					11																	55135463		2201	4296	6497	54892039	SO:0001583	missense	81328			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.104A>G	11.37:g.55135463A>G	ENSP00000325065:p.Asn35Ser		54892039	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	9.535	1.111784	0.20714	.	.	ENSG00000181958	ENST00000314706	T	0.01221	5.15	3.48	0.961	0.19638	.	0.000000	0.43110	U	0.000620	T	0.00496	0.0016	N	0.00652	-1.29	0.09310	N	1	B	0.25904	0.137	B	0.25506	0.061	T	0.47355	-0.9124	10	0.28530	T	0.3	.	3.6922	0.08350	0.6476:0.2245:0.1279:0.0	.	35	Q8NGL6	O4A15_HUMAN	S	35	ENSP00000325065:N35S	ENSP00000325065:N35S	N	+	2	0	OR4A15	54892039	0.285000	0.24296	0.409000	0.26459	0.191000	0.23601	1.336000	0.33850	0.410000	0.25675	0.403000	0.27427	AAC		0.393	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
INCENP	3619	hgsc.bcm.edu	37	11	61897543	61897543	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:61897543C>G	ENST00000394818.3	+	4	746	c.544C>G	c.(544-546)Cat>Gat	p.H182D	INCENP_ENST00000278849.4_Missense_Mutation_p.H182D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	182					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGAGCAGCATGTCACCCA	0.612																																																	0			11											65.0	57.0	60.0					11																	61897543		2202	4299	6501	61654119	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.544C>G	11.37:g.61897543C>G	ENSP00000378295:p.His182Asp		61654119	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	C	9.542	1.113530	0.20795	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.14144	2.53;2.53	4.73	0.0484	0.14285	.	1.332830	0.04781	N	0.429911	T	0.16642	0.0400	L	0.57536	1.79	0.09310	N	1	D;B;B	0.54601	0.967;0.358;0.244	B;B;B	0.44044	0.439;0.117;0.055	T	0.31223	-0.9951	10	0.39692	T	0.17	.	6.3473	0.21357	0.0:0.4671:0.0:0.5329	.	182;182;182	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	D	182	ENSP00000378295:H182D;ENSP00000278849:H182D	ENSP00000278849:H182D	H	+	1	0	INCENP	61654119	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.593000	0.05740	0.088000	0.17205	-0.258000	0.10820	CAT		0.612	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	
GANAB	23193	hgsc.bcm.edu	37	11	62407103	62407103	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:62407103A>G	ENST00000356638.3	-	2	155	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	GANAB_ENST00000346178.4_Missense_Mutation_p.C47R|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_5'UTR|GANAB_ENST00000534779.1_Intron	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	47					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCATACTTGCAGAAAGAACTC	0.488																																					Melanoma(23;1005 1074 15747 18937)												0			11											80.0	77.0	78.0					11																	62407103		2202	4299	6501	62163679	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.139T>C	11.37:g.62407103A>G	ENSP00000349053:p.Cys47Arg		62163679	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058667	0.55325	.	.	ENSG00000089597	ENST00000346178;ENST00000356638	D;D	0.94931	-3.56;-3.41	5.31	5.31	0.75309	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	M	0.87547	2.89	0.80722	D	1	D;D	0.65815	0.981;0.995	P;D	0.68192	0.904;0.956	D	0.97850	1.0274	10	0.87932	D	0	.	13.2706	0.60159	1.0:0.0:0.0:0.0	.	47;47	Q14697;Q14697-2	GANAB_HUMAN;.	R	47	ENSP00000340466:C47R;ENSP00000349053:C47R	ENSP00000340466:C47R	C	-	1	0	GANAB	62163679	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.037000	0.93765	2.020000	0.59435	0.454000	0.30748	TGC		0.488	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
DLG2	1740	hgsc.bcm.edu	37	11	84245625	84245625	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:84245625A>C	ENST00000532653.1	-	2	494	c.192T>G	c.(190-192)atT>atG	p.I64M	DLG2_ENST00000398309.2_Missense_Mutation_p.I64M|DLG2_ENST00000376104.2_Missense_Mutation_p.I169M|DLG2_ENST00000524982.1_Missense_Mutation_p.I64M|DLG2_ENST00000543673.1_Missense_Mutation_p.I169M			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGAGGAGAAATATGAGACT	0.413																																																	0			11											159.0	151.0	153.0					11																	84245625		1880	4099	5979	83923273	SO:0001583	missense	4355			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.192T>G	11.37:g.84245625A>C	ENSP00000435849:p.Ile64Met		83923273	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	A	18.11	3.551319	0.65311	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.88	1.27	0.21489	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.52532	D	0.000080	T	0.63850	0.2546	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.62365	0.991;0.985;0.988;0.991	D;D;D;D	0.75484	0.986;0.924;0.977;0.986	T	0.60707	-0.7210	9	.	.	.	.	5.6365	0.17540	0.3973:0.0:0.4582:0.1446	.	64;64;169;64	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	M	64;169;169;64;64;169	ENSP00000381355:I64M;ENSP00000365272:I169M;ENSP00000441994:I169M;ENSP00000432894:I64M;ENSP00000435849:I64M	.	I	-	3	3	DLG2	83923273	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.417000	0.21214	0.554000	0.29061	0.533000	0.62120	ATT		0.413	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
DPAGT1	1798	hgsc.bcm.edu	37	11	118981273	118981274	+	5'Flank	DNP	GC	GC	TT			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:118981273_118981274GC>TT	ENST00000409993.2	-	0	0				C2CD2L_ENST00000528586.1_5'Flank|C2CD2L_ENST00000336702.3_Silent_p.151_152VL>VL			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GGTCTCAGGTGCTGCGTTGCCA	0.609																																																	0			11																																								118486483|118486484	SO:0001631	upstream_gene_variant	9854			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1_1delinsTT	11.37:g.118981273_118981274delinsTT	Exception_encountered		118486483|118486484	O15216|Q86WV9|Q9BWE6	Silent	SNP	ENST00000409993.2	37	CCDS8411.1																																																																																				0.609	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
TMEM136	219902	hgsc.bcm.edu	37	11	120198134	120198134	+	Intron	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr11:120198134G>T	ENST00000375095.2	+	2	240				TMEM136_ENST00000529187.1_Missense_Mutation_p.W17L|TMEM136_ENST00000531346.1_Intron|TMEM136_ENST00000314475.2_Missense_Mutation_p.W17L	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136							integral component of membrane (GO:0016021)		p.W17*(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		TTCTGGTTTTGGTCTTTTCAT	0.413																																																	1	Substitution - Nonsense(1)	ovary(1)	11											178.0	165.0	169.0					11																	120198134		2203	4299	6502	119703344	SO:0001627	intron_variant	219902			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.-1-16G>T	11.37:g.120198134G>T			119703344	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787243	0.31593	.	.	ENSG00000181264	ENST00000314475;ENST00000529187	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07927	-1.0747	7	0.27082	T	0.32	.	7.7709	0.29008	0.0808:0.0:0.7133:0.2059	.	17;17	Q6ZRR5-3;Q6ZRR5-4	.;.	L	17	.	ENSP00000312672:W17L	W	+	2	0	TMEM136	119703344	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	2.756000	0.47549	2.629000	0.89072	0.655000	0.94253	TGG		0.413	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926	
BAI3	577	hgsc.bcm.edu	37	6	70071241	70071241	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:70071241T>C	ENST00000370598.1	+	29	4897	c.4076T>C	c.(4075-4077)tTc>tCc	p.F1359S	BAI3_ENST00000546190.1_Missense_Mutation_p.F323S|BAI3_ENST00000238918.8_Missense_Mutation_p.F565S	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1359					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGGACCAGTTCAATATGAAC	0.433																																																	0			6											108.0	111.0	110.0					6																	70071241		2203	4300	6503	70127962	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4076T>C	6.37:g.70071241T>C	ENSP00000359630:p.Phe1359Ser		70127962	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207705	0.39003	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.05717	3.4;3.4;3.4	5.8	5.8	0.92144	.	0.091421	0.85682	D	0.000000	T	0.01905	0.0060	N	0.19112	0.55	0.44409	D	0.997327	P;B	0.37466	0.596;0.097	B;B	0.32864	0.154;0.031	T	0.58629	-0.7603	10	0.19147	T	0.46	.	16.1965	0.82029	0.0:0.0:0.0:1.0	.	565;1359	B7Z356;O60242	.;BAI3_HUMAN	S	1359;565;323	ENSP00000359630:F1359S;ENSP00000238918:F565S;ENSP00000441821:F323S	ENSP00000238918:F565S	F	+	2	0	BAI3	70127962	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.474000	0.81024	2.232000	0.73038	0.529000	0.55759	TTC		0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
FILIP1	27145	hgsc.bcm.edu	37	6	76023146	76023146	+	Missense_Mutation	SNP	G	G	A	rs78566620		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:76023146G>A	ENST00000237172.7	-	5	2732	c.2402C>T	c.(2401-2403)aCg>aTg	p.T801M	FILIP1_ENST00000393004.2_Missense_Mutation_p.T801M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T702M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	801										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCAGTTGACGTCACAGGAAC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18354	0.001		0.0	False		,,,				2504	0.0																0			6						G	MET/THR	0,4406		0,0,2203	132.0	137.0	135.0		2402	5.3	0.7	6	dbSNP_131	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FILIP1	NM_015687.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	801/1214	76023146	1,13005	2203	4300	6503	76079866	SO:0001583	missense	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2402C>T	6.37:g.76023146G>A	ENSP00000237172:p.Thr801Met		76079866	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.68	2.010634	0.35511	0.0	1.16E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.19938	2.12;2.11;2.12	5.28	5.28	0.74379	.	0.158221	0.56097	D	0.000034	T	0.26048	0.0635	L	0.54323	1.7	0.54753	D	0.999988	D;P;P	0.69078	0.997;0.884;0.783	P;P;P	0.54312	0.655;0.564;0.748	T	0.00366	-1.1786	10	0.34782	T	0.22	-6.9156	19.1041	0.93285	0.0:0.0:1.0:0.0	.	801;801;801	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	801;801;702	ENSP00000376728:T801M;ENSP00000237172:T801M;ENSP00000359037:T702M	ENSP00000237172:T801M	T	-	2	0	FILIP1	76079866	1.000000	0.71417	0.737000	0.30932	0.033000	0.12548	5.481000	0.66826	2.758000	0.94735	0.563000	0.77884	ACG		0.478	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
CNR1	1268	hgsc.bcm.edu	37	6	88854560	88854560	+	Missense_Mutation	SNP	C	C	T	rs143463104		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:88854560C>T	ENST00000537554.1	-	2	3996	c.434G>A	c.(433-435)cGc>cAc	p.R145H	CNR1_ENST00000369499.2_Missense_Mutation_p.R145H|CNR1_ENST00000369501.2_Missense_Mutation_p.R145H|CNR1_ENST00000549890.1_Missense_Mutation_p.R145H|CNR1_ENST00000549716.1_Missense_Mutation_p.R84H|CNR1_ENST00000535130.1_Missense_Mutation_p.R145H|CNR1_ENST00000468898.1_Missense_Mutation_p.R112H|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.R145H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	145					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GCGGAGGCTGCGGGAGTGGAG	0.612																																																	0			6						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	38.0	39.0		434,434,434,434,335	5.8	1.0	6	dbSNP_134	39	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	CNR1	NM_001160226.1,NM_001160258.1,NM_001160259.1,NM_016083.4,NM_033181.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	145/473,145/473,145/473,145/473,112/440	88854560	1,13005	2203	4300	6503	88911279	SO:0001583	missense	56144			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.434G>A	6.37:g.88854560C>T	ENSP00000441046:p.Arg145His		88911279	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662778	0.47572	2.27E-4	0.0	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.43152	1.355	0.80722	D	1	B;B	0.21688	0.059;0.056	B;B	0.20184	0.02;0.028	T	0.03443	-1.1036	10	0.30854	T	0.27	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	112;145	P21554-3;P21554	.;CNR1_HUMAN	H	145;145;145;145;145;112;145;84	ENSP00000358513:R145H;ENSP00000442689:R145H;ENSP00000441046:R145H;ENSP00000358511:R145H;ENSP00000446819:R145H;ENSP00000420188:R112H;ENSP00000412192:R145H;ENSP00000449549:R84H	ENSP00000358511:R145H	R	-	2	0	CNR1	88911279	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.818000	0.86416	2.732000	0.93576	0.563000	0.77884	CGC		0.612	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
GRIK2	2898	hgsc.bcm.edu	37	6	102124561	102124561	+	Missense_Mutation	SNP	G	G	T	rs192827644		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:102124561G>T	ENST00000421544.1	+	4	1095	c.605G>T	c.(604-606)cGt>cTt	p.R202L	GRIK2_ENST00000358361.3_Missense_Mutation_p.R202L|GRIK2_ENST00000369138.1_Missense_Mutation_p.R202L|GRIK2_ENST00000318991.6_Missense_Mutation_p.R202L|GRIK2_ENST00000413795.1_Missense_Mutation_p.R202L|GRIK2_ENST00000369134.4_Missense_Mutation_p.R153L|GRIK2_ENST00000369137.3_Missense_Mutation_p.R202L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	202					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCAAAATTCGTCAGTTACCT	0.338																																																	0			6											65.0	65.0	65.0					6																	102124561		2203	4300	6503	102231254	SO:0001583	missense	2901				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.605G>T	6.37:g.102124561G>T	ENSP00000397026:p.Arg202Leu		102231254	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248238	0.95305	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.64	5.64	0.86602	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.992	T	0.60924	-0.7166	10	0.87932	D	0	.	19.766	0.96342	0.0:0.0:1.0:0.0	.	202;202;202	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	L	202;202;202;202;202;202;202;153;164	ENSP00000397026:R202L;ENSP00000405596:R202L;ENSP00000358134:R202L;ENSP00000351128:R202L;ENSP00000358133:R202L;ENSP00000313276:R202L;ENSP00000358130:R153L	ENSP00000313276:R202L	R	+	2	0	GRIK2	102231254	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.864000	0.99589	2.694000	0.91930	0.580000	0.79431	CGT		0.338	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
DCBLD1	285761	hgsc.bcm.edu	37	6	117853525	117853525	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:117853525G>T	ENST00000338728.5	+	6	808	c.688G>T	c.(688-690)Ggg>Tgg	p.G230W	DCBLD1_ENST00000296955.8_Missense_Mutation_p.G230W|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Missense_Mutation_p.G230W			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	230	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCGATATGAAGGGATTCTGGC	0.433																																																	0			6											236.0	193.0	207.0					6																	117853525		2203	4300	6503	117960218	SO:0001583	missense	285761			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.688G>T	6.37:g.117853525G>T	ENSP00000342422:p.Gly230Trp		117960218	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37		.	.	.	.	.	.	.	.	.	.	G	24.0	4.483383	0.84854	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	D;D;D	0.91068	-2.78;-2.78;-2.78	5.53	5.53	0.82687	LCCL (4);	0.247096	0.40302	N	0.001128	D	0.96191	0.8758	M	0.90082	3.085	0.40498	D	0.98061	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96656	0.9485	10	0.87932	D	0	-9.397	19.4633	0.94927	0.0:0.0:1.0:0.0	.	230;230	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	W	230	ENSP00000296955:G230W;ENSP00000357489:G230W;ENSP00000342422:G230W	ENSP00000296955:G230W	G	+	1	0	DCBLD1	117960218	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	5.407000	0.66363	2.608000	0.88229	0.467000	0.42956	GGG		0.433	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674	
TAAR2	9287	hgsc.bcm.edu	37	6	132938807	132938807	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:132938807A>G	ENST00000367931.1	-	2	537	c.538T>C	c.(538-540)Ttc>Ctc	p.F180L	TAAR2_ENST00000275191.2_Missense_Mutation_p.F135L|TAAR2_ENST00000537809.1_Missense_Mutation_p.F135L			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCCTCTGAGAAGACCACCCCG	0.458																																																	0			6											67.0	61.0	63.0					6																	132938807		2203	4300	6503	132980500	SO:0001583	missense	9288			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.538T>C	6.37:g.132938807A>G	ENSP00000356908:p.Phe180Leu		132980500	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345557	0.41498	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.36340	1.26;1.26;1.26	6.0	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.124650	0.56097	D	0.000035	T	0.13841	0.0335	L	0.33624	1.015	0.38002	D	0.934251	B	0.10296	0.003	B	0.14023	0.01	T	0.05321	-1.0892	10	0.26408	T	0.33	-35.5707	11.5719	0.50839	0.9309:0.0:0.0691:0.0	.	180	Q9P1P5	TAAR2_HUMAN	L	135;180;135	ENSP00000275191:F135L;ENSP00000356908:F180L;ENSP00000441263:F135L	ENSP00000275191:F135L	F	-	1	0	TAAR2	132980500	0.990000	0.36364	1.000000	0.80357	0.986000	0.74619	2.639000	0.46570	2.295000	0.77249	0.528000	0.53228	TTC		0.458	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626	
SYNE1	23345	hgsc.bcm.edu	37	6	152577846	152577846	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr6:152577846C>T	ENST00000367255.5	-	102	19628	c.19027G>A	c.(19027-19029)Gtg>Atg	p.V6343M	SYNE1_ENST00000341594.5_Missense_Mutation_p.V5955M|SYNE1_ENST00000423061.1_Missense_Mutation_p.V6272M|SYNE1_ENST00000356820.4_Missense_Mutation_p.V867M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6343M|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6272M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6343					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V6343L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGGTTGGCACGTCCCCTTTG	0.468										HNSCC(10;0.0054)																																							2	Substitution - Missense(2)	prostate(2)	6											179.0	149.0	159.0					6																	152577846		2203	4300	6503	152619539	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19027G>A	6.37:g.152577846C>T	ENSP00000356224:p.Val6343Met		152619539	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311623	0.10789	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.53857	0.7;0.69;0.6;0.69;0.79;2.65	5.29	4.43	0.53597	.	0.206659	0.33854	N	0.004500	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	P;P;P	0.44578	0.75;0.75;0.838	B;B;B	0.40565	0.115;0.115;0.333	T	0.02721	-1.1119	10	0.44086	T	0.13	.	9.6366	0.39811	0.0:0.7808:0.0:0.2192	.	6343;6343;6272	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	M	6343;6272;6343;6272;5955;867	ENSP00000356224:V6343M;ENSP00000396024:V6272M;ENSP00000265368:V6343M;ENSP00000390975:V6272M;ENSP00000341887:V5955M;ENSP00000349276:V867M	ENSP00000265368:V6343M	V	-	1	0	SYNE1	152619539	0.005000	0.15991	0.013000	0.15412	0.233000	0.25261	1.384000	0.34396	1.373000	0.46208	-0.142000	0.14014	GTG		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TEKT1	83659	hgsc.bcm.edu	37	17	6704171	6704171	+	Missense_Mutation	SNP	G	G	A	rs139532367		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:6704171G>A	ENST00000338694.2	-	7	1073	c.944C>T	c.(943-945)aCg>aTg	p.T315M	TEKT1_ENST00000535086.1_Missense_Mutation_p.T169M	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	315						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTCCAAGCGCGTATGAGCCAC	0.498											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		21176	0.001		0.0	False		,,,				2504	0.0																0			17						G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	204.0	194.0	197.0		944	5.8	0.7	17	dbSNP_134	197	0,8600		0,0,4300	yes	missense	TEKT1	NM_053285.1	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	315/419	6704171	2,13004	2203	4300	6503	6644895	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.944C>T	17.37:g.6704171G>A	ENSP00000341346:p.Thr315Met	636	6644895	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021128	0.75275	4.54E-4	0.0	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.05447	3.44;3.44	5.85	5.85	0.93711	.	0.049041	0.85682	D	0.000000	T	0.36991	0.0987	M	0.94063	3.49	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.41484	-0.9506	10	0.87932	D	0	.	18.0364	0.89305	0.0:0.0:1.0:0.0	.	315	Q969V4	TEKT1_HUMAN	M	315;169	ENSP00000341346:T315M;ENSP00000444142:T169M	ENSP00000341346:T315M	T	-	2	0	TEKT1	6644895	1.000000	0.71417	0.728000	0.30774	0.600000	0.36913	6.955000	0.76007	2.941000	0.99782	0.655000	0.94253	ACG		0.498	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	
TP53	7157	hgsc.bcm.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		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)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	17	GRCh37	CM076568|CM951234	TP53	M							71.0	61.0	64.0					17																	7577114		2203	4300	6503	7517839	SO:0001583	missense	7157	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr		7517839	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	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
FBXW10	10517	hgsc.bcm.edu	37	17	18673283	18673283	+	Missense_Mutation	SNP	G	G	C	rs371753550		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:18673283G>C	ENST00000395665.4	+	11	2112	c.1891G>C	c.(1891-1893)Gcc>Ccc	p.A631P	FBXW10_ENST00000308799.4_Missense_Mutation_p.A660P|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395667.1_Missense_Mutation_p.A631P|FBXW10_ENST00000573605.1_3'UTR			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	631										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTCATCAGCGCCTGTGCAGA	0.517																																																	0			17											207.0	203.0	205.0					17																	18673283		2203	4300	6503	18614008	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1891G>C	17.37:g.18673283G>C	ENSP00000379025:p.Ala631Pro		18614008	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088128	0.55968	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000395665	T;T;T	0.20738	2.05;2.05;2.05	3.4	3.4	0.38934	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.982297	0.08228	U	0.978034	T	0.46425	0.1392	M	0.67953	2.075	0.36920	D	0.891343	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.996	T	0.45352	-0.9267	10	0.72032	D	0.01	.	12.7048	0.57054	0.0:0.0:1.0:0.0	.	660;631;631	Q5XX13-2;Q5XX13;Q5XX13-4	.;FBW10_HUMAN;.	P	631;660;631	ENSP00000379026:A631P;ENSP00000310382:A660P;ENSP00000379025:A631P	ENSP00000310382:A660P	A	+	1	0	FBXW10	18614008	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	5.362000	0.66098	1.888000	0.54679	0.194000	0.17425	GCC		0.517	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456	
ERBB2	2064	hgsc.bcm.edu	37	17	37868207	37868207	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:37868207T>C	ENST00000269571.5	+	8	1087	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	ERBB2_ENST00000406381.2_Missense_Mutation_p.S280P|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280P|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295P|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310P|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280P|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280P|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34P|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280P			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGACGTGGGATCCTGCACCCT	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0			17											253.0	205.0	221.0					17																	37868207		2203	4300	6503	35121733	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.928T>C	17.37:g.37868207T>C	ENSP00000269571:p.Ser310Pro		35121733	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480057	0.44044	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.81158	0.4764	M	0.84511	2.7	0.49798	D	0.999827	D;D;D;D;D	0.89917	0.999;1.0;0.997;1.0;1.0	D;D;P;D;D	0.78314	0.921;0.955;0.875;0.986;0.991	D	0.84349	0.0531	9	0.87932	D	0	.	15.1749	0.72903	0.0:0.0:0.0:1.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	P	280;295;34;310;280;280	ENSP00000385185:S280P;ENSP00000446466:S295P;ENSP00000404047:S34P;ENSP00000269571:S310P;ENSP00000443562:S280P;ENSP00000446382:S280P	ENSP00000269571:S310P	S	+	1	0	ERBB2	35121733	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	5.449000	0.66619	2.232000	0.73038	0.402000	0.26972	TCC		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
IKZF3	22806	hgsc.bcm.edu	37	17	37944519	37944519	+	Missense_Mutation	SNP	C	C	G	rs112301322	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:37944519C>G	ENST00000346872.3	-	6	762	c.701G>C	c.(700-702)gGg>gCg	p.G234A	IKZF3_ENST00000377958.2_Missense_Mutation_p.G147A|IKZF3_ENST00000377944.3_Missense_Mutation_p.G91A|IKZF3_ENST00000535189.1_Missense_Mutation_p.G200A|IKZF3_ENST00000467757.1_Missense_Mutation_p.G178A|IKZF3_ENST00000350532.3_Missense_Mutation_p.G234A|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000351680.3_Intron|IKZF3_ENST00000377952.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	234					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACCAGTGTCCCCTGGGTCAGT	0.463													C|||	70	0.0139776	0.003	0.0274	5008	,	,		19399	0.0		0.0308	False		,,,				2504	0.0164																0			17						C	ALA/GLY,ALA/GLY,,ALA/GLY,,	32,4374	37.6+/-69.7	1,30,2172	132.0	101.0	111.0		701,533,,701,,	2.9	0.0	17	dbSNP_132	111	273,8327	104.0+/-165.0	3,267,4030	yes	missense,missense,intron,missense,intron,intron	IKZF3	NM_012481.3,NM_183228.1,NM_183229.1,NM_183230.1,NM_183231.1,NM_183232.1	60,60,,60,,	4,297,6202	GG,GC,CC		3.1744,0.7263,2.3451	benign,benign,,benign,,	234/510,178/454,,234/471,,	37944519	305,12701	2203	4300	6503	35198045	SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.701G>C	17.37:g.37944519C>G	ENSP00000344544:p.Gly234Ala		35198045	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	36|36	0.016483516483516484|0.016483516483516484	2|2	0.0040650406504065045|0.0040650406504065045	9|9	0.024861878453038673|0.024861878453038673	0|0	0.0|0.0	25|25	0.032981530343007916|0.032981530343007916	C|C	1.864|1.864	-0.461818|-0.461818	0.04508|0.04508	0.007263|0.007263	0.031744|0.031744	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000377944;ENST00000377958;ENST00000535189;ENST00000350532;ENST00000467757|ENST00000439016	T;T;T;T;T|.	0.08896|.	3.25;3.04;3.3;3.24;4.29|.	6.04|6.04	2.93|2.93	0.34026|0.34026	.|.	0.232813|0.232813	0.30575|0.30575	N|N	0.009333|0.009333	T|T	0.04952|0.04952	0.0133|0.0133	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999984|0.999984	B;B;B;B;B;B|.	0.33171|.	0.4;0.041;0.007;0.002;0.004;0.006|.	B;B;B;B;B;B|.	0.28011|.	0.085;0.026;0.009;0.007;0.007;0.008|.	T|T	0.16867|0.16867	-1.0388|-1.0388	10|7	0.18710|0.18276	T|T	0.47|0.48	-8.0392|-8.0392	4.9351|4.9351	0.13937|0.13937	0.1251:0.6226:0.1207:0.1316|0.1251:0.6226:0.1207:0.1316	.|.	147;91;200;234;178;234|.	Q9UKT9-9;Q9UKT9-10;Q9UKT9-7;Q9UKT9-4;Q9UKT9-2;Q9UKT9|.	.;.;.;.;.;IKZF3_HUMAN|.	A|R	234;91;147;200;234;178|188	ENSP00000367179:G91A;ENSP00000367194:G147A;ENSP00000438972:G200A;ENSP00000344471:G234A;ENSP00000420463:G178A|.	ENSP00000344471:G234A|ENSP00000403027:G188R	G|G	-|-	2|1	0|0	IKZF3|IKZF3	35198045|35198045	0.751000|0.751000	0.28327|0.28327	0.011000|0.011000	0.14972|0.14972	0.055000|0.055000	0.15305|0.15305	2.583000|2.583000	0.46094|0.46094	0.418000|0.418000	0.25898|0.25898	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.463	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
KRTAP9-8	83901	hgsc.bcm.edu	37	17	39394650	39394650	+	Missense_Mutation	SNP	G	G	A	rs556439657	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:39394650G>A	ENST00000254072.6	+	1	354	c.347G>A	c.(346-348)tGc>tAc	p.C116Y		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	116	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.C116S(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCTGGTTGCCTAAACCAG	0.617													.|||	2	0.000399361	0.0	0.0	5008	,	,		17603	0.002		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)	17											92.0	112.0	106.0					17																	39394650		2105	4300	6405	36648176	SO:0001583	missense	83901			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.347G>A	17.37:g.39394650G>A	ENSP00000254072:p.Cys116Tyr		36648176		Missense_Mutation	SNP	ENST00000254072.6	37	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.885234	0.33255	.	.	ENSG00000187272	ENST00000254072	T	0.01295	5.04	2.1	1.09	0.20402	.	.	.	.	.	T	0.05044	0.0135	M	0.68317	2.08	0.09310	N	1	D	0.62365	0.991	D	0.77557	0.99	T	0.37056	-0.9722	9	0.66056	D	0.02	.	3.4405	0.07461	0.399:0.0:0.601:0.0	.	116	Q9BYQ0	KRA98_HUMAN	Y	116	ENSP00000254072:C116Y	ENSP00000254072:C116Y	C	+	2	0	KRTAP9-8	36648176	0.107000	0.21998	0.009000	0.14445	0.164000	0.22412	0.315000	0.19451	1.105000	0.41606	0.508000	0.49915	TGC		0.617	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1		
MGAT5B	146664	hgsc.bcm.edu	37	17	74901330	74901330	+	Missense_Mutation	SNP	G	G	A	rs62080221		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:74901330G>A	ENST00000569840.2	+	7	1344	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	MGAT5B_ENST00000428789.2_Missense_Mutation_p.R268Q|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R257Q|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	257					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAAGAAGCGGACCAAGAGG	0.647																																																	0			17											35.0	39.0	38.0					17																	74901330		2203	4300	6503	72412925	SO:0001583	missense	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.770G>A	17.37:g.74901330G>A	ENSP00000456037:p.Arg257Gln		72412925	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261410	0.80358	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.62232	0.06;0.04	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83565	0.0109	10	0.87932	D	0	-42.6426	17.3425	0.87301	0.0:0.0:1.0:0.0	rs62080221	268;257	Q3V5L5-2;Q3V5L5-5	.;.	Q	257;257;268	ENSP00000301618:R257Q;ENSP00000391227:R268Q	ENSP00000301618:R257Q	R	+	2	0	MGAT5B	72412925	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	8.927000	0.92846	2.416000	0.81992	0.514000	0.50259	CGG		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677	
C1QTNF1	114897	hgsc.bcm.edu	37	17	77043751	77043751	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:77043751A>G	ENST00000339142.2	+	5	982	c.427A>G	c.(427-429)Agc>Ggc	p.S143G	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.S143G|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.S143G|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.S143G|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.S61G|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.S143G|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.S143G|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.S61G|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.S153G|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.S143G	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	143	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCGGTGCAAGAGCCACTACGC	0.612																																																	0			17											60.0	60.0	60.0					17																	77043751		2203	4300	6503	74555346	SO:0001583	missense	114897			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.427A>G	17.37:g.77043751A>G	ENSP00000340864:p.Ser143Gly		74555346	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082539	0.36758	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;D;T	0.81821	-1.02;-1.54;-1.02	5.33	4.25	0.50352	Tumour necrosis factor-like (1);Complement C1q protein (2);	0.459560	0.23724	N	0.045183	T	0.76357	0.3976	L	0.54323	1.7	0.34340	D	0.688712	B;B;B	0.26708	0.157;0.034;0.095	B;B;B	0.33121	0.158;0.044;0.158	T	0.75271	-0.3376	10	0.23891	T	0.37	.	10.9119	0.47114	0.9259:0.0:0.0741:0.0	.	153;153;143	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	G	143;61;153;143;153	ENSP00000340864:S143G;ENSP00000311265:S61G;ENSP00000343230:S153G	ENSP00000311265:S61G	S	+	1	0	C1QTNF1	74555346	0.960000	0.32886	1.000000	0.80357	0.740000	0.42216	2.343000	0.44001	0.861000	0.35504	0.459000	0.35465	AGC		0.612	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
SAMSN1	64092	hgsc.bcm.edu	37	21	15873051	15873051	+	Silent	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr21:15873051T>C	ENST00000400566.1	-	6	648	c.567A>G	c.(565-567)ggA>ggG	p.G189G	SAMSN1_ENST00000285670.2_Silent_p.G257G|SAMSN1_ENST00000463807.1_5'Flank|SAMSN1_ENST00000400564.1_Silent_p.G21G	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	189	SH3.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTATGATGTCTCCTTTCTAAG	0.343																																																	0			21											159.0	140.0	145.0					21																	15873051		1848	4102	5950	14794922	SO:0001819	synonymous_variant	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.567A>G	21.37:g.15873051T>C			14794922	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	CCDS42906.1																																																																																				0.343	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
CXADR	1525	hgsc.bcm.edu	37	21	18924199	18924199	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr21:18924199A>G	ENST00000284878.7	+	3	1091	c.343A>G	c.(343-345)Att>Gtt	p.I115V	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.I115V|CXADR_ENST00000400166.1_Missense_Mutation_p.I115V|CXADR_ENST00000400169.1_Missense_Mutation_p.I115V|CXADR_ENST00000400165.1_Missense_Mutation_p.I115V	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	115	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACTGTCAGATATTGGCACATA	0.358																																																	0			21											90.0	91.0	90.0					21																	18924199		2203	4300	6503	17846070	SO:0001583	missense	1525			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.343A>G	21.37:g.18924199A>G	ENSP00000284878:p.Ile115Val		17846070	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	A	5.130	0.209542	0.09757	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000400165;ENST00000306618	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.04	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.331011	0.36134	N	0.002763	T	0.42720	0.1215	N	0.12182	0.205	0.27664	N	0.946989	B;B;B;B	0.17465	0.022;0.008;0.002;0.011	B;B;B;B	0.14578	0.011;0.01;0.006;0.008	T	0.41197	-0.9522	10	0.62326	D	0.03	.	10.4371	0.44441	0.9219:0.0:0.0781:0.0	.	115;115;115;115	P78310-4;B7WPI3;P78310;P78310-5	.;.;CXAR_HUMAN;.	V	115	ENSP00000284878:I115V;ENSP00000383030:I115V;ENSP00000383033:I115V;ENSP00000383029:I115V;ENSP00000303395:I115V	ENSP00000284878:I115V	I	+	1	0	CXADR	17846070	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.563000	0.60823	0.999000	0.39023	0.533000	0.62120	ATT		0.358	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1		
TTC3	7267	hgsc.bcm.edu	37	21	38538382	38538382	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr21:38538382A>G	ENST00000399017.2	+	33	6613	c.3866A>G	c.(3865-3867)aAg>aGg	p.K1289R	TTC3_ENST00000355666.1_Missense_Mutation_p.K1289R|TTC3_ENST00000354749.2_Missense_Mutation_p.K1289R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1289			K -> M (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K1289M(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCAAATTACAAGCGAGTCTCC	0.458																																					Ovarian(38;194 1649 35661)												1	Substitution - Missense(1)	breast(1)	21											81.0	87.0	85.0					21																	38538382		2203	4300	6503	37460252	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3866A>G	21.37:g.38538382A>G	ENSP00000381981:p.Lys1289Arg		37460252	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	a	12.12	1.843523	0.32606	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.09630	2.96;2.96;2.96	3.87	-1.87	0.07737	.	2.008250	0.02470	N	0.087400	T	0.08626	0.0214	L	0.44542	1.39	0.09310	N	1	B;B	0.28636	0.218;0.08	B;B	0.25405	0.06;0.012	T	0.23547	-1.0185	9	.	.	.	-7.0E-4	0.7966	0.01067	0.3977:0.17:0.1023:0.33	.	347;1289	Q5GIT6;P53804	.;TTC3_HUMAN	R	1289	ENSP00000347889:K1289R;ENSP00000381981:K1289R;ENSP00000346791:K1289R	.	K	+	2	0	TTC3	37460252	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.031000	0.13710	-0.403000	0.07622	-0.253000	0.11424	AAG		0.458	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
PRMT2	3275	hgsc.bcm.edu	37	21	48083335	48083335	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr21:48083335C>T	ENST00000397637.1	+	10	2092	c.1138C>T	c.(1138-1140)Cca>Tca	p.P380S	PRMT2_ENST00000458387.2_Missense_Mutation_p.P232L|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Missense_Mutation_p.P380S|PRMT2_ENST00000355680.3_Missense_Mutation_p.P380S|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000440086.1_Missense_Mutation_p.P278S			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	380	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GATGGACGACCCAGTCCCTGT	0.582																																																	0			21											185.0	140.0	155.0					21																	48083335		2203	4300	6503	46907763	SO:0001583	missense	3275			U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.1138C>T	21.37:g.48083335C>T	ENSP00000380759:p.Pro380Ser		46907763	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	CCDS13737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	28.6|28.6	4.937337|4.937337	0.92458|0.92458	.|.	.|.	ENSG00000160310|ENSG00000160310	ENST00000458387|ENST00000355680;ENST00000397638;ENST00000397637;ENST00000440086	T|D;D;D;D	0.63580|0.88354	-0.05|-2.37;-2.37;-2.37;-2.37	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.055858|0.055858	0.64402|0.64402	D|N	0.000001|0.000001	D|D	0.93989|0.93989	0.8075|0.8075	M|M	0.74546|0.74546	2.27|2.27	0.80722|0.80722	D|D	1|1	B|D;D	0.31680|0.89917	0.335|1.0;0.999	B|D;D	0.25140|0.85130	0.058|0.997;0.974	D|D	0.93523|0.93523	0.6863|0.6863	9|9	.|.	.|.	.|.	-17.8136|-17.8136	16.8042|16.8042	0.85621|0.85621	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	232|278;380	B7U631|Q498Y5;P55345	.|.;ANM2_HUMAN	L|S	232|380;380;380;278	ENSP00000407463:P232L|ENSP00000347906:P380S;ENSP00000380760:P380S;ENSP00000380759:P380S;ENSP00000397266:P278S	.|.	P|P	+|+	2|1	0|0	PRMT2|PRMT2	46907763|46907763	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.574000|0.574000	0.36063|0.36063	5.413000|5.413000	0.66399|0.66399	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.582	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535	
GDE1	51573	hgsc.bcm.edu	37	16	19514867	19514867	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr16:19514867C>G	ENST00000353258.3	-	6	1101	c.921G>C	c.(919-921)aaG>aaC	p.K307N	CTA-363E6.7_ENST00000569345.1_RNA	NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	307	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CGTAGTAACTCTTTTCATCAA	0.463											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			16											163.0	143.0	150.0					16																	19514867		2197	4300	6497	19422368	SO:0001583	missense	51573				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.921G>C	16.37:g.19514867C>G	ENSP00000261386:p.Lys307Asn	733	19422368	O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586872	0.66105	.	.	ENSG00000006007	ENST00000353258	T	0.28069	1.63	6.08	0.0954	0.14485	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.041958	0.85682	D	0.000000	T	0.46756	0.1409	M	0.69358	2.11	0.44330	D	0.997218	D	0.89917	1.0	D	0.85130	0.997	T	0.23726	-1.0180	10	0.27785	T	0.31	-19.3987	10.6732	0.45770	0.0:0.5008:0.0:0.4992	.	307	Q9NZC3	GDE1_HUMAN	N	307	ENSP00000261386:K307N	ENSP00000261386:K307N	K	-	3	2	GDE1	19422368	0.613000	0.27009	0.971000	0.41717	0.964000	0.63967	0.462000	0.21956	-0.232000	0.09811	-0.302000	0.09304	AAG		0.463	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641	
HEATR3	55027	hgsc.bcm.edu	37	16	50109493	50109493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr16:50109493C>T	ENST00000299192.7	+	6	825	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.Q126*	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	212										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATATTGTTTGCAGACAGTGAC	0.383																																																	0			16											105.0	92.0	97.0					16																	50109493		2198	4300	6498	48666994	SO:0001587	stop_gained	55027			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.634C>T	16.37:g.50109493C>T	ENSP00000299192:p.Gln212*		48666994	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	C	38	7.154938	0.98099	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	4.94	4.94	0.65067	.	0.104699	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	18.5556	0.91083	0.0:1.0:0.0:0.0	.	.	.	.	X	126;212	.	ENSP00000285767:Q126X	Q	+	1	0	HEATR3	48666994	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.631000	0.74277	2.441000	0.82636	0.650000	0.86243	CAG		0.383	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
SALL1	6299	hgsc.bcm.edu	37	16	51175403	51175403	+	Silent	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr16:51175403G>A	ENST00000251020.4	-	2	763	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.L147L	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	244					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCAATTGCAGCTGGTGGATC	0.547																																					GBM(103;1352 1446 1855 4775 8890)												0			16											82.0	85.0	84.0					16																	51175403		2198	4300	6498	49732904	SO:0001819	synonymous_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.730C>T	16.37:g.51175403G>A			49732904	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
PDPR	55066	hgsc.bcm.edu	37	16	70177447	70177447	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr16:70177447A>G	ENST00000288050.4	+	14	2597	c.1640A>G	c.(1639-1641)tAc>tGc	p.Y547C	PDPR_ENST00000398122.3_Missense_Mutation_p.Y447C|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_5'Flank|PDPR_ENST00000568530.1_Missense_Mutation_p.Y547C|PDPR_ENST00000542659.1_5'Flank	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	547					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.Y547F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GTTCTACAGTACCTCTTCTCC	0.542																																																	1	Substitution - Missense(1)	breast(1)	16											73.0	76.0	75.0					16																	70177447		2014	4200	6214	68734948	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1640A>G	16.37:g.70177447A>G	ENSP00000288050:p.Tyr547Cys		68734948	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254674	0.59212	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.75938	-0.98;-0.98	4.8	2.4	0.29515	Glycine cleavage T-protein, N-terminal (1);	0.115330	0.64402	D	0.000010	T	0.81631	0.4863	M	0.76574	2.34	0.80722	D	1	D;P	0.71674	0.998;0.885	P;P	0.62813	0.907;0.755	T	0.79127	-0.1931	10	0.49607	T	0.09	.	9.387	0.38349	0.7292:0.0:0.0:0.2708	.	275;547	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	C	547;447;275	ENSP00000288050:Y547C;ENSP00000381190:Y447C	ENSP00000205055:Y275C	Y	+	2	0	PDPR	68734948	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.119000	0.50422	0.227000	0.20999	0.459000	0.35465	TAC		0.542	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
HYDIN	54768	hgsc.bcm.edu	37	16	70894711	70894711	+	Silent	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr16:70894711C>T	ENST00000393567.2	-	70	12021	c.11871G>A	c.(11869-11871)tcG>tcA	p.S3957S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3957					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTATGTAGTCCGAGTCTTTCA	0.577																																																	0			16											2.0	2.0	2.0					16																	70894711		1290	2918	4208	69452212	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11871G>A	16.37:g.70894711C>T			69452212	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
NPC1	4864	hgsc.bcm.edu	37	18	21121352	21121352	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr18:21121352G>A	ENST00000269228.5	-	15	2845	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.A446V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	764	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCAATCCCGCAAAGAGAGA	0.522																																																	0			18											92.0	84.0	87.0					18																	21121352		2203	4300	6503	19375350	SO:0001583	missense	257641			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2291C>T	18.37:g.21121352G>A	ENSP00000269228:p.Ala764Val		19375350	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755210	0.89843	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.90900	-2.75;-2.75	5.89	5.89	0.94794	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.96738	0.9544	10	0.87932	D	0	-31.3387	20.2566	0.98424	0.0:0.0:1.0:0.0	.	775;764	Q59GR1;O15118	.;NPC1_HUMAN	V	764;446;609	ENSP00000269228:A764V;ENSP00000408606:A446V	ENSP00000269228:A764V	A	-	2	0	NPC1	19375350	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	9.787000	0.99055	2.793000	0.96121	0.561000	0.74099	GCG		0.522	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
ZNF521	25925	hgsc.bcm.edu	37	18	22805807	22805807	+	Missense_Mutation	SNP	G	G	A	rs114072043		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr18:22805807G>A	ENST00000361524.3	-	4	2223	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	ZNF521_ENST00000538137.2_Missense_Mutation_p.T692M|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.T472M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	692					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GATGTAATACGTTGAAGTGAT	0.443			T	PAX5	ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		24012	0.001		0.0	False		,,,				2504	0.0							Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			18											160.0	149.0	153.0					18																	22805807		2203	4300	6503	21059805	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2075C>T	18.37:g.22805807G>A	ENSP00000354794:p.Thr692Met		21059805	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.823	0.718244	0.15372	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09911	2.93;2.95	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.35288	1.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.00330	-1.1812	10	0.87932	D	0	-23.2526	20.5827	0.99408	0.0:0.0:1.0:0.0	.	692	Q96K83	ZN521_HUMAN	M	692;726;692	ENSP00000354794:T692M;ENSP00000382352:T692M	ENSP00000354794:T692M	T	-	2	0	ZNF521	21059805	1.000000	0.71417	0.277000	0.24703	0.693000	0.40251	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	ACG		0.443	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
ULK4	54986	hgsc.bcm.edu	37	3	41497079	41497079	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr3:41497079T>G	ENST00000301831.4	-	34	3863	c.3401A>C	c.(3400-3402)aAg>aCg	p.K1134T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1134					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAGCCAGACTTCTGGGCCTG	0.537																																																	0			3											73.0	75.0	75.0					3																	41497079		1922	4140	6062	41472083	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3401A>C	3.37:g.41497079T>G	ENSP00000301831:p.Lys1134Thr		41472083	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553827	0.45487	.	.	ENSG00000168038	ENST00000301831	T	0.55588	0.51	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.627480	0.12056	U	0.503659	T	0.52125	0.1715	L	0.38175	1.15	0.80722	D	1	P	0.52842	0.956	P	0.50082	0.63	T	0.51387	-0.8712	10	0.72032	D	0.01	.	9.8325	0.40950	0.0:0.0765:0.0:0.9235	.	1134	Q96C45	ULK4_HUMAN	T	1134	ENSP00000301831:K1134T	ENSP00000301831:K1134T	K	-	2	0	ULK4	41472083	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.181000	0.58303	2.050000	0.60909	0.533000	0.62120	AAG		0.537	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
THOC7	80145	hgsc.bcm.edu	37	3	63824089	63824089	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr3:63824089A>G	ENST00000295899.5	-	3	336	c.224T>C	c.(223-225)cTc>cCc	p.L75P	C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_5'UTR	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	75	Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CATTTCTCTGAGATTCATATC	0.289																																					Colon(48;665 1127 6720 18651)												0			3											43.0	45.0	44.0					3																	63824089		2202	4297	6499	63799129	SO:0001583	missense	80145			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"""THO complex subunits"""	29874	protein-coding gene	gene with protein product	"""Ngg1 interacting factor 3 like 1 binding protein 1"", ""functional spliceosome-associated protein 24"""	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.224T>C	3.37:g.63824089A>G	ENSP00000295899:p.Leu75Pro		63799129	Q6P1L3|Q8WUF2|Q9H5H0	Missense_Mutation	SNP	ENST00000295899.5	37	CCDS2900.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118794	0.77323	.	.	ENSG00000163634	ENST00000295899	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.53249	1.67	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.65776	-0.6086	9	0.31617	T	0.26	-29.5076	16.4534	0.84003	1.0:0.0:0.0:0.0	.	75	Q6I9Y2	THOC7_HUMAN	P	75	.	ENSP00000295899:L75P	L	-	2	0	THOC7	63799129	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.296000	0.96104	2.285000	0.76669	0.477000	0.44152	CTC		0.289	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352096.1	NM_025075	
GOLGB1	2804	hgsc.bcm.edu	37	3	121410505	121410505	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr3:121410505T>C	ENST00000340645.5	-	14	7816	c.7691A>G	c.(7690-7692)gAg>gGg	p.E2564G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2569G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2564					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTTTCCAGCTCCTTATTTTG	0.388																																																	0			3											111.0	116.0	114.0					3																	121410505		2203	4300	6503	122893195	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7691A>G	3.37:g.121410505T>C	ENSP00000341848:p.Glu2564Gly		122893195	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	2.678	-0.275967	0.05679	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15017	2.46;2.46	5.25	2.83	0.33086	.	0.310848	0.28317	N	0.015796	T	0.15003	0.0362	L	0.55481	1.735	0.21915	N	0.999479	P;B;B	0.41978	0.767;0.005;0.016	B;B;B	0.41510	0.359;0.004;0.022	T	0.11275	-1.0594	10	0.30854	T	0.27	.	4.4329	0.11536	0.0:0.1705:0.1684:0.6611	.	2569;2569;2564	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	G	2564;2569	ENSP00000341848:E2564G;ENSP00000377275:E2569G	ENSP00000341848:E2564G	E	-	2	0	GOLGB1	122893195	0.026000	0.19158	0.995000	0.50966	0.369000	0.29798	1.640000	0.37186	0.430000	0.26230	0.533000	0.62120	GAG		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
CHST2	9435	hgsc.bcm.edu	37	3	142840829	142840829	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr3:142840829G>T	ENST00000309575.3	+	2	2555	c.1171G>T	c.(1171-1173)Gct>Tct	p.A391S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	391					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|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)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AGACTACCACGCTCTGGGCGC	0.667																																																	0			3											44.0	53.0	50.0					3																	142840829		2203	4300	6503	144323519	SO:0001583	missense	9435			BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1171G>T	3.37:g.142840829G>T	ENSP00000307911:p.Ala391Ser		144323519	D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	8.578	0.881619	0.17467	.	.	ENSG00000175040	ENST00000309575	D	0.81996	-1.56	4.47	4.47	0.54385	Sulfotransferase domain (1);	0.236707	0.35320	N	0.003291	T	0.61912	0.2385	N	0.02011	-0.69	0.50039	D	0.999846	P	0.44006	0.824	B	0.40285	0.325	T	0.67051	-0.5768	10	0.09338	T	0.73	-1.1166	17.3237	0.87242	0.0:0.0:1.0:0.0	.	391	Q9Y4C5	CHST2_HUMAN	S	391	ENSP00000307911:A391S	ENSP00000307911:A391S	A	+	1	0	CHST2	144323519	1.000000	0.71417	0.638000	0.29380	0.845000	0.48019	5.663000	0.68038	2.322000	0.78497	0.407000	0.27541	GCT		0.667	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267	
TP63	8626	hgsc.bcm.edu	37	3	189526170	189526170	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr3:189526170C>T	ENST00000264731.3	+	4	523	c.434C>T	c.(433-435)gCg>gTg	p.A145V	TP63_ENST00000456148.1_Missense_Mutation_p.A51V|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.A51V|TP63_ENST00000354600.5_Missense_Mutation_p.A51V|TP63_ENST00000320472.5_Missense_Mutation_p.A145V|TP63_ENST00000440651.2_Missense_Mutation_p.A145V|TP63_ENST00000437221.1_Missense_Mutation_p.A51V|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.A145V|TP63_ENST00000392460.3_Missense_Mutation_p.A145V|TP63_ENST00000392461.3_Missense_Mutation_p.A51V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	145					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCGTCACGGCGCCCTCGCCC	0.622										HNSCC(45;0.13)																																							0			3											204.0	146.0	166.0					3																	189526170		2203	4300	6503	191008864	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.434C>T	3.37:g.189526170C>T	ENSP00000264731:p.Ala145Val		191008864	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064122	0.93898	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;T;D;D;D;D	0.99709	-6.2;-6.48;-6.45;-6.46;-6.2;-6.18;-0.96;-6.45;-6.43;-6.41;-6.18	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;P;D;P;D	0.69078	0.986;0.986;0.972;0.972;0.972;0.908;0.997;0.955;0.986	P;P;P;P;P;B;P;P;P	0.56648	0.674;0.746;0.526;0.526;0.606;0.277;0.803;0.562;0.746	D	0.98977	1.0803	9	.	.	.	-4.842	14.2277	0.65871	0.0:0.9286:0.0:0.0714	.	145;145;51;51;51;51;145;145;145	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	V	145;145;145;145;145;51;51;51;51;51;51	ENSP00000264731:A145V;ENSP00000407144:A145V;ENSP00000317510:A145V;ENSP00000376253:A145V;ENSP00000394337:A145V;ENSP00000346614:A51V;ENSP00000401661:A51V;ENSP00000392488:A51V;ENSP00000376256:A51V;ENSP00000376254:A51V;ENSP00000389485:A51V	.	A	+	2	0	TP63	191008864	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	7.487000	0.81328	1.480000	0.48289	0.655000	0.94253	GCG		0.622	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
KIAA1467	57613	hgsc.bcm.edu	37	12	13208558	13208558	+	Silent	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:13208558G>A	ENST00000197268.8	+	2	231	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	37						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AAGACGATCTGGTGCTTAACC	0.507																																																	0			12											80.0	80.0	80.0					12																	13208558		2203	4300	6503	13099825	SO:0001819	synonymous_variant	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.111G>A	12.37:g.13208558G>A			13099825	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	ENST00000197268.8	37	CCDS31750.1																																																																																				0.507	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
PDE3A	5139	hgsc.bcm.edu	37	12	20766576	20766576	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:20766576A>C	ENST00000359062.3	+	3	1251	c.1211A>C	c.(1210-1212)aAc>aCc	p.N404T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	404					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCAGTGAAAACTATACCTGT	0.458																																																	0			12											80.0	79.0	80.0					12																	20766576		2203	4300	6503	20657843	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1211A>C	12.37:g.20766576A>C	ENSP00000351957:p.Asn404Thr		20657843	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542687	0.27563	.	.	ENSG00000172572	ENST00000359062	T	0.49432	0.78	5.87	3.48	0.39840	.	2.068590	0.03653	U	0.241337	T	0.40909	0.1136	L	0.46157	1.445	0.30053	N	0.811557	B	0.27882	0.192	B	0.19391	0.025	T	0.30060	-0.9991	10	0.17832	T	0.49	.	7.5819	0.27970	0.6039:0.326:0.0701:0.0	.	404	Q14432	PDE3A_HUMAN	T	404	ENSP00000351957:N404T	ENSP00000351957:N404T	N	+	2	0	PDE3A	20657843	0.357000	0.24938	0.990000	0.47175	0.706000	0.40770	1.405000	0.34635	1.090000	0.41315	0.533000	0.62120	AAC		0.458	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
ABCD2	225	hgsc.bcm.edu	37	12	39979967	39979967	+	Silent	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:39979967A>G	ENST00000308666.3	-	7	1914	c.1779T>C	c.(1777-1779)gtT>gtC	p.V593V		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	593	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CTTCTCTTTGAACTATGTGAT	0.333																																																	0			12											163.0	139.0	147.0					12																	39979967		2203	4300	6503	38266234	SO:0001819	synonymous_variant	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1779T>C	12.37:g.39979967A>G			38266234	B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	CCDS8734.1																																																																																				0.333	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
ABCD2	225	hgsc.bcm.edu	37	12	39980006	39980006	+	Silent	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:39980006C>T	ENST00000308666.3	-	7	1875	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	580	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GGATACGTTCCAGATCTTGGT	0.353																																																	0			12											192.0	160.0	171.0					12																	39980006		2203	4300	6503	38266273	SO:0001819	synonymous_variant	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1740G>A	12.37:g.39980006C>T			38266273	B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	CCDS8734.1																																																																																				0.353	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
ADAMTS20	80070	hgsc.bcm.edu	37	12	43822123	43822123	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:43822123T>G	ENST00000389420.3	-	26	3865	c.3866A>C	c.(3865-3867)cAa>cCa	p.Q1289P	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q407P|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q1289P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1289					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCAAGTTTTTGAGTTAATGG	0.473																																																	0			12											99.0	95.0	96.0					12																	43822123		2203	4300	6503	42108390	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3866A>C	12.37:g.43822123T>G	ENSP00000374071:p.Gln1289Pro		42108390	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	8.119	0.780511	0.16120	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.62105	0.24;0.09;0.1;0.05	5.35	5.35	0.76521	.	0.120609	0.36932	N	0.002325	T	0.35740	0.0942	N	0.08118	0	0.24712	N	0.993192	B;P	0.38863	0.0;0.65	B;B	0.31101	0.0;0.124	T	0.24225	-1.0166	10	0.27082	T	0.32	.	10.8978	0.47034	0.1405:0.0:0.0:0.8595	.	1289;407	P59510;E9PBD5	ATS20_HUMAN;.	P	1289;419;407;1289;1289	ENSP00000374071:Q1289P;ENSP00000447427:Q419P;ENSP00000378911:Q407P;ENSP00000448341:Q1289P	ENSP00000374068:Q1289P	Q	-	2	0	ADAMTS20	42108390	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	2.509000	0.45459	2.330000	0.79161	0.477000	0.44152	CAA		0.473	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
OR6C1	390321	hgsc.bcm.edu	37	12	55714821	55714821	+	Silent	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:55714821T>C	ENST00000379668.2	+	1	476	c.438T>C	c.(436-438)tcT>tcC	p.S146S		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S146S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTTTTACTTCTTGGCTGGTTT	0.403																																																	1	Substitution - coding silent(1)	ovary(1)	12											45.0	42.0	43.0					12																	55714821		2203	4299	6502	54001088	SO:0001819	synonymous_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.438T>C	12.37:g.55714821T>C			54001088	B2RNM0	Silent	SNP	ENST00000379668.2	37	CCDS31818.1																																																																																				0.403	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182	
ERBB3	2065	hgsc.bcm.edu	37	12	56478794	56478794	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:56478794A>G	ENST00000267101.3	+	3	690	c.250A>G	c.(250-252)Aca>Gca	p.T84A	ERBB3_ENST00000411731.2_Missense_Mutation_p.T84A|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.T25A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	84					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGAGAAGTGACAGGCTATGT	0.483																																																	0			12											142.0	118.0	127.0					12																	56478794		2203	4300	6503	54765061	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.250A>G	12.37:g.56478794A>G	ENSP00000267101:p.Thr84Ala		54765061	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841500	0.51057	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;D;D;T;D;D	0.84730	-1.44;-1.89;-1.89;-1.44;-1.89;-1.89	5.82	5.82	0.92795	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000002	D	0.88789	0.6532	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.975;0.998	D	0.86327	0.1696	10	0.23302	T	0.38	.	15.1658	0.72825	1.0:0.0:0.0:0.0	.	84;84	P21860;P21860-2	ERBB3_HUMAN;.	A	84;25;84;84;84;25;25	ENSP00000448636:T84A;ENSP00000449138:T25A;ENSP00000267101:T84A;ENSP00000415753:T84A;ENSP00000449713:T25A;ENSP00000408340:T25A	ENSP00000267101:T84A	T	+	1	0	ERBB3	54765061	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.618000	0.67722	2.218000	0.71995	0.533000	0.62120	ACA		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
SMARCC2	6601	hgsc.bcm.edu	37	12	56561900	56561900	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:56561900T>C	ENST00000267064.4	-	25	2787	c.2701A>G	c.(2701-2703)Atc>Gtc	p.I901V	SMARCC2_ENST00000550164.1_Missense_Mutation_p.I932V|SMARCC2_ENST00000347471.4_Missense_Mutation_p.I932V|SMARCC2_ENST00000394023.3_Missense_Mutation_p.I932V|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	901					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CGAAGTTTGATCTCCAACTTT	0.552																																																	0			12											127.0	120.0	123.0					12																	56561900		2203	4300	6503	54848167	SO:0001583	missense	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2701A>G	12.37:g.56561900T>C	ENSP00000267064:p.Ile901Val		54848167	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429400	0.62844	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.51071	1.2;0.72;0.74;0.74	4.19	4.19	0.49359	.	0.000000	0.64402	D	0.000002	T	0.56470	0.1987	L	0.45470	1.425	0.50813	D	0.999899	P;P;P;P;P	0.43750	0.816;0.61;0.816;0.476;0.61	P;B;P;B;B	0.56648	0.803;0.399;0.803;0.224;0.399	T	0.60115	-0.7326	10	0.72032	D	0.01	-13.0106	12.6932	0.56988	0.0:0.0:0.0:1.0	.	821;932;936;901;932	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	932;932;932;901	ENSP00000377591:I932V;ENSP00000449396:I932V;ENSP00000302919:I932V;ENSP00000267064:I901V	ENSP00000267064:I901V	I	-	1	0	SMARCC2	54848167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	1.906000	0.55180	0.533000	0.62120	ATC		0.552	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
PTPRQ	374462	hgsc.bcm.edu	37	12	81062877	81062877	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:81062877C>T	ENST00000266688.5	+	45	6272	c.6272C>T	c.(6271-6273)gCa>gTa	p.A2091V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	2128	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						GAAACCAGAGCAAAAACATTA	0.348																																																	0			12											109.0	96.0	100.0					12																	81062877		692	1590	2282	79587008	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.6272C>T	12.37:g.81062877C>T	ENSP00000266688:p.Ala2091Val		79587008		Missense_Mutation	SNP	ENST00000266688.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.626474|3.626474	0.66901|0.66901	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000266688|ENST00000532722	T|.	0.80653|.	-1.4|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	.|.	.|.	.|.	.|.	T|.	0.72581|.	0.3478|.	.|.	.|.	.|.	0.42787|0.42787	D|D	0.993889|0.993889	P|.	0.36683|.	0.565|.	B|.	0.42625|.	0.393|.	T|.	0.71052|.	-0.4704|.	8|.	0.28530|.	T|.	0.3|.	.|.	16.6454|16.6454	0.85175|0.85175	0.0:0.8704:0.1296:0.0|0.0:0.8704:0.1296:0.0	.|.	2128|.	Q9UMZ3|.	PTPRQ_HUMAN|.	V|X	2091|1792	ENSP00000266688:A2091V|.	ENSP00000266688:A2091V|.	A|Q	+|+	2|1	0|0	PTPRQ|PTPRQ	79587008|79587008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.598000|4.598000	0.61069|0.61069	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.348	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
TMPO	7112	hgsc.bcm.edu	37	12	98927830	98927830	+	Intron	SNP	C	C	A	rs17459334	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:98927830C>A	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.Q599K|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACATTAGTCAAGCTGCACA	0.468																																																	0			12											99.0	79.0	86.0					12																	98927830		2203	4300	6503	97451961	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+2214C>A	12.37:g.98927830C>A			97451961	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698977	0.48307	.	.	ENSG00000120802	ENST00000266732	T	0.59502	0.26	5.96	5.96	0.96718	.	0.461649	0.22945	N	0.053734	T	0.48241	0.1489	N	0.24115	0.695	0.80722	D	1	P	0.44877	0.845	B	0.41764	0.366	T	0.52208	-0.8606	10	0.59425	D	0.04	.	15.9221	0.79583	0.0:1.0:0.0:0.0	.	599	P42166	LAP2A_HUMAN	K	599	ENSP00000266732:Q599K	ENSP00000266732:Q599K	Q	+	1	0	TMPO	97451961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.147000	0.42226	2.832000	0.97577	0.655000	0.94253	CAA		0.468	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
TCTN1	79600	hgsc.bcm.edu	37	12	111057657	111057657	+	Silent	SNP	C	C	T	rs374598052		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:111057657C>T	ENST00000551590.1	+	2	393	c.237C>T	c.(235-237)gtC>gtT	p.V79V	TCTN1_ENST00000550703.2_Silent_p.V79V|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000471804.2_Silent_p.V79V|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000397655.3_Silent_p.V79V|TCTN1_ENST00000397659.4_Silent_p.V79V			Q2MV58	TECT1_HUMAN	tectonic family member 1	79	Cys-rich.				central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTCTCTGTGTCTGTGACTTAT	0.522																																																	0			12											194.0	184.0	188.0					12																	111057657		1993	4171	6164	109542040	SO:0001819	synonymous_variant	79600			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.237C>T	12.37:g.111057657C>T			109542040	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	CCDS41835.1																																																																																				0.522	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549	
PTPN11	5781	hgsc.bcm.edu	37	12	112926886	112926886	+	Silent	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr12:112926886A>G	ENST00000351677.2	+	13	1704	c.1506A>G	c.(1504-1506)tcA>tcG	p.S502S		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	506	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		R -> L (in LEOPARD1). {ECO:0000269|PubMed:15121796}.|R -> W (in LEOPARD1; reduced phosphatase activity). {ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:24891296}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTCAGAGGTCAGGGATGGTCC	0.463			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0			12											180.0	168.0	172.0					12																	112926886		2203	4300	6503	111411269	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1506A>G	12.37:g.112926886A>G			111411269	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1																																																																																				0.463	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
ATP10A	57194	hgsc.bcm.edu	37	15	26026187	26026187	+	Silent	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr15:26026187C>A	ENST00000356865.6	-	2	744	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	211					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V211V(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCCGCGGACCACCTGCCGCC	0.617																																																	1	Substitution - coding silent(1)	large_intestine(1)	15											65.0	68.0	67.0					15																	26026187		2203	4300	6503	23577280	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.633G>T	15.37:g.26026187C>A			23577280	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.617	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
HDGFRP3	50810	hgsc.bcm.edu	37	15	83826709	83826709	+	Silent	SNP	G	G	A	rs145113533		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr15:83826709G>A	ENST00000299633.4	-	3	849	c.246C>T	c.(244-246)aaC>aaT	p.N82N		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		82					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACAATCCTTCGTTAAATCCTT	0.373																																																	0			15						G		1,4405	2.1+/-5.4	0,1,2202	153.0	137.0	142.0		246	1.7	1.0	15	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous	HDGFRP3	NM_016073.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		82/204	83826709	1,13005	2203	4300	6503	81617713	SO:0001819	synonymous_variant	50810																														ENST00000299633.4:c.246C>T	15.37:g.83826709G>A			81617713		Silent	SNP	ENST00000299633.4	37	CCDS32314.1																																																																																				0.373	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1		
WWC3	55841	hgsc.bcm.edu	37	X	10058885	10058885	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:10058885G>A	ENST00000380861.4	+	6	843	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	WWC3_ENST00000454666.1_Missense_Mutation_p.R151Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	151					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGTGAGCTCCGGACCATCAAG	0.458																																																	0			X											108.0	90.0	96.0					X																	10058885		2203	4300	6503	10018885	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.452G>A	X.37:g.10058885G>A	ENSP00000370242:p.Arg151Gln		10018885	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156318	0.57259	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05258	3.47;3.47	5.05	4.18	0.49190	.	0.119886	0.53938	D	0.000049	T	0.12987	0.0315	L	0.52364	1.645	0.37893	D	0.930788	D	0.63880	0.993	P	0.53549	0.729	T	0.05716	-1.0868	10	0.40728	T	0.16	-23.4289	12.877	0.57996	0.082:0.0:0.918:0.0	.	151	Q9ULE0	WWC3_HUMAN	Q	151	ENSP00000370242:R151Q;ENSP00000399584:R151Q	ENSP00000370242:R151Q	R	+	2	0	WWC3	10018885	1.000000	0.71417	0.606000	0.28943	0.017000	0.09413	6.387000	0.73191	1.012000	0.39366	0.506000	0.49869	CGG		0.458	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
PTCHD1	139411	hgsc.bcm.edu	37	X	23397858	23397858	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:23397858C>T	ENST00000379361.4	+	2	1362	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	168					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.R63R(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGCCACCAATCGGACCAATTT	0.488																																																	1	Substitution - coding silent(1)	ovary(1)	X											100.0	86.0	90.0					X																	23397858		2203	4300	6503	23307779	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.502C>T	X.37:g.23397858C>T	ENSP00000368666:p.Arg168Trp		23307779	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	15.28	2.788193	0.49997	.	.	ENSG00000165186	ENST00000379361	D	0.89415	-2.51	5.06	4.2	0.49525	.	0.199272	0.43919	D	0.000512	D	0.87811	0.6271	L	0.29908	0.895	0.33407	D	0.578101	D;P	0.76494	0.999;0.953	P;P	0.55303	0.711;0.773	D	0.90871	0.4746	10	0.59425	D	0.04	0.0188	12.3099	0.54922	0.306:0.694:0.0:0.0	.	63;168	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	W	168	ENSP00000368666:R168W	ENSP00000368666:R168W	R	+	1	2	PTCHD1	23307779	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.074000	0.41529	1.233000	0.43693	0.600000	0.82982	CGG		0.488	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
OTC	5009	hgsc.bcm.edu	37	X	38211986	38211986	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:38211986G>C	ENST00000039007.4	+	1	189	c.37G>C	c.(37-39)Gct>Cct	p.A13P	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	13					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AAACAATGCAGCTTTTAGAAA	0.383																																																	0			X											153.0	126.0	136.0					X																	38211986		2202	4300	6502	38096930	SO:0001583	missense	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.37G>C	X.37:g.38211986G>C	ENSP00000039007:p.Ala13Pro		38096930	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	7.762	0.705517	0.15172	.	.	ENSG00000036473	ENST00000039007	D	0.99150	-5.49	5.77	3.05	0.35203	.	0.748493	0.13045	N	0.418218	D	0.94479	0.8223	N	0.08118	0	0.27955	N	0.936998	B	0.02656	0.0	B	0.01281	0.0	D	0.89509	0.3770	10	0.27082	T	0.32	.	4.8057	0.13319	0.1823:0.0:0.647:0.1707	.	13	P00480	OTC_HUMAN	P	13	ENSP00000039007:A13P	ENSP00000039007:A13P	A	+	1	0	OTC	38096930	0.995000	0.38212	0.447000	0.26932	0.641000	0.38312	0.706000	0.25690	0.216000	0.20781	-0.192000	0.12808	GCT		0.383	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
EBP	10682	hgsc.bcm.edu	37	X	48382321	48382321	+	Silent	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:48382321G>T	ENST00000495186.1	+	2	985	c.162G>T	c.(160-162)gcG>gcT	p.A54A	EBP_ENST00000276096.6_3'UTR	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)	54					cholesterol biosynthetic process (GO:0006695)|cholesterol metabolic process (GO:0008203)|drug transmembrane transport (GO:0006855)|hemopoiesis (GO:0030097)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	C-8 sterol isomerase activity (GO:0000247)|cholestenol delta-isomerase activity (GO:0047750)|drug transmembrane transporter activity (GO:0015238)|steroid delta-isomerase activity (GO:0004769)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11					Tamoxifen(DB00675)	GTCGTGCTGCGGTTGTCCCAT	0.567																																					Ovarian(41;550 1000 33077 33474 52335)												0			X											200.0	167.0	178.0					X																	48382321		2203	4300	6503	48267265	SO:0001819	synonymous_variant	152503			Z37986	CCDS14300.1	Xp11.23-p11.22	2013-05-22	2001-11-28		ENSG00000147155	ENSG00000147155			3133	protein-coding gene	gene with protein product	"""3-beta-hydroxysteroid-delta-8,delta-7-isomerase"", ""Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)"", ""sterol 8-isomerase"""	300205	"""emopamil-binding protein (sterol isomerase)"""	CDPX2		7706302, 8938429	Standard	NM_006579		Approved	CPX, CPXD, CHO2	uc004djx.4	Q15125	OTTHUMG00000034482	ENST00000495186.1:c.162G>T	X.37:g.48382321G>T			48267265	Q6FGL3|Q6IBI9	Silent	SNP	ENST00000495186.1	37	CCDS14300.1																																																																																				0.567	EBP-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083372.1	NM_006579	
WNK3	65267	hgsc.bcm.edu	37	X	54259351	54259351	+	Silent	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:54259351A>C	ENST00000375159.2	-	20	4730	c.4731T>G	c.(4729-4731)acT>acG	p.T1577T	WNK3_ENST00000375169.3_Silent_p.T1530T|WNK3_ENST00000354646.2_Silent_p.T1577T			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1577					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGGAATCTCAGTAGATTGGG	0.473																																																	0			X											160.0	143.0	149.0					X																	54259351		2203	4300	6503	54276076	SO:0001819	synonymous_variant	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4731T>G	X.37:g.54259351A>C			54276076	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																				0.473	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
MTMR8	55613	hgsc.bcm.edu	37	X	63564991	63564991	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:63564991G>A	ENST00000374852.3	-	7	866	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	MTMR8_ENST00000453546.1_Missense_Mutation_p.R267C|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	267	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AATCTGAAGCGAATGTTGGCA	0.488																																																	1	Whole gene deletion(1)	ovary(1)	X											236.0	179.0	198.0					X																	63564991		2203	4300	6503	63481716	SO:0001583	missense	66036			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.799C>T	X.37:g.63564991G>A	ENSP00000363985:p.Arg267Cys		63481716	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.321849|3.321849	0.60634|0.60634	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.90676|.	-2.71;-2.71|.	3.23|3.23	3.23|3.23	0.37069|0.37069	Myotubularin phosphatase domain (1);Myotubularin-related (1);|.	0.000000|.	0.44285|.	U|.	0.000476|.	T|T	0.79317|0.79317	0.4425|0.4425	M|M	0.89715|0.89715	3.055|3.055	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.70716|.	0.765;0.97|.	D|D	0.83551|0.83551	0.0101|0.0101	10|5	0.87932|.	D|.	0|.	.|.	12.8898|12.8898	0.58066|0.58066	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	267;267|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	C|L	267;267;153|70	ENSP00000394003:R267C;ENSP00000363985:R267C|.	ENSP00000247400:R153C|.	R|S	-|-	1|2	0|0	MTMR8|MTMR8	63481716|63481716	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	2.793000|2.793000	0.47845|0.47845	1.638000|1.638000	0.50547|0.50547	0.513000|0.513000	0.50165|0.50165	CGC|TCG		0.488	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
NAP1L3	4675	hgsc.bcm.edu	37	X	92928039	92928039	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:92928039G>A	ENST00000373079.3	-	1	528	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NAP1L3_ENST00000475430.2_Missense_Mutation_p.R82W|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	89					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AACGGGGCCCGCCGCGCCCTT	0.567																																																	0			X											19.0	21.0	20.0					X																	92928039		2185	4244	6429	92814695	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.265C>T	X.37:g.92928039G>A	ENSP00000362171:p.Arg89Trp		92814695	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	1.558	-0.537543	0.04082	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.30981	1.51	3.33	0.197	0.15164	.	0.431559	0.26373	N	0.024757	T	0.14570	0.0352	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14364	-1.0475	10	0.40728	T	0.16	-10.8327	6.2714	0.20956	0.1371:0.5442:0.3187:0.0	.	89	Q99457	NP1L3_HUMAN	W	89;82	ENSP00000362171:R89W	ENSP00000362171:R89W	R	-	1	2	NAP1L3	92814695	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.053000	0.11846	-0.073000	0.12842	0.529000	0.55759	CGG		0.567	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538	
XKRX	402415	hgsc.bcm.edu	37	X	100177923	100177923	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:100177923C>G	ENST00000372956.2	-	2	1067	c.463G>C	c.(463-465)Ggc>Cgc	p.G155R	XKRX_ENST00000468904.1_Intron|XKRX_ENST00000328526.5_Missense_Mutation_p.G168R			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						ATGGAGTGGCCCACCTCCCAT	0.557																																																	0			X											203.0	167.0	179.0					X																	100177923		2203	4300	6503	100064579	SO:0001583	missense	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.463G>C	X.37:g.100177923C>G	ENSP00000362047:p.Gly155Arg		100064579	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785355	0.90282	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.72505	-0.66;-0.64	5.9	5.04	0.67666	.	0.045117	0.85682	D	0.000000	T	0.80778	0.4688	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.80747	-0.1244	10	0.48119	T	0.1	-7.2368	13.5075	0.61491	0.0:0.9223:0.0:0.0777	.	155	Q6PP77	XKR2_HUMAN	R	168;155	ENSP00000327570:G168R;ENSP00000362047:G155R	ENSP00000327570:G168R	G	-	1	0	XKRX	100064579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.740000	0.68629	2.493000	0.84123	0.600000	0.82982	GGC		0.557	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559	
TAF7L	54457	hgsc.bcm.edu	37	X	100532686	100532686	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:100532686T>C	ENST00000372907.3	-	9	868	c.857A>G	c.(856-858)gAt>gGt	p.D286G	TAF7L_ENST00000356784.1_Missense_Mutation_p.D200G|TAF7L_ENST00000324762.6_Missense_Mutation_p.D200G|TAF7L_ENST00000372905.2_Missense_Mutation_p.D200G	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	286					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTGGTTCCATCTTCAGCAAT	0.468																																					Ovarian(104;431 1530 3210 15406 18594)												0			X											141.0	128.0	132.0					X																	100532686		2203	4300	6503	100419342	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.857A>G	X.37:g.100532686T>C	ENSP00000361998:p.Asp286Gly		100419342	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	t	7.922	0.738864	0.15642	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.33438	3.59;1.41;1.41;3.03	5.29	-5.55	0.02536	.	0.768919	0.11491	N	0.558748	T	0.27349	0.0671	L	0.60067	1.865	0.34232	D	0.676612	B;B	0.24043	0.069;0.096	B;B	0.24155	0.029;0.051	T	0.09250	-1.0683	10	0.62326	D	0.03	-0.545	12.2589	0.54638	0.0:0.3696:0.0:0.6304	.	286;200	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	G	286;200;200;200	ENSP00000361998:D286G;ENSP00000361996:D200G;ENSP00000320283:D200G;ENSP00000349235:D200G	ENSP00000320283:D200G	D	-	2	0	TAF7L	100419342	1.000000	0.71417	0.002000	0.10522	0.065000	0.16274	1.178000	0.31981	-1.429000	0.01987	-0.327000	0.08410	GAT		0.468	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
KLHL13	90293	hgsc.bcm.edu	37	X	117043321	117043321	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:117043321T>G	ENST00000262820.3	-	5	2218	c.1309A>C	c.(1309-1311)Agt>Cgt	p.S437R	KLHL13_ENST00000540167.1_Missense_Mutation_p.S421R|KLHL13_ENST00000371882.1_Missense_Mutation_p.S386R|KLHL13_ENST00000371876.1_Missense_Mutation_p.S386R|KLHL13_ENST00000469946.1_Missense_Mutation_p.S386R|KLHL13_ENST00000539496.1_Missense_Mutation_p.S440R|KLHL13_ENST00000541812.1_Missense_Mutation_p.S421R|KLHL13_ENST00000545703.1_Missense_Mutation_p.S395R|KLHL13_ENST00000371878.1_Missense_Mutation_p.S386R	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	437					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTGAGGGCACTTAGGTGGAAG	0.408																																																	0			X											52.0	45.0	47.0					X																	117043321		2203	4300	6503	116927349	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1309A>C	X.37:g.117043321T>G	ENSP00000262820:p.Ser437Arg		116927349	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196908	0.79015	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.02	5.02	0.67125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	M	0.82323	2.585	0.80722	D	1	D;D;P;P	0.89917	0.989;1.0;0.94;0.952	P;D;P;P	0.80764	0.78;0.994;0.749;0.837	D	0.89979	0.4099	10	0.87932	D	0	.	13.8251	0.63346	0.0:0.0:0.0:1.0	.	421;440;431;437	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	R	386;386;386;386;421;421;440;437;395;386	ENSP00000360949:S386R;ENSP00000360943:S386R;ENSP00000360945:S386R;ENSP00000412640:S386R;ENSP00000444450:S421R;ENSP00000441029:S421R;ENSP00000443191:S440R;ENSP00000262820:S437R;ENSP00000440707:S395R;ENSP00000419803:S386R	ENSP00000262820:S437R	S	-	1	0	KLHL13	116927349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	1.838000	0.53458	0.481000	0.45027	AGT		0.408	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
MAP7D3	79649	hgsc.bcm.edu	37	X	135313098	135313098	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:135313098T>G	ENST00000316077.9	-	9	1661	c.1441A>C	c.(1441-1443)Atc>Ctc	p.I481L	MAP7D3_ENST00000370661.1_Missense_Mutation_p.I446L|MAP7D3_ENST00000370663.5_Missense_Mutation_p.I463L|MAP7D3_ENST00000495432.1_5'Flank	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	481					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GCAATAGGGATTAAGGCCTGT	0.373																																																	0			X											158.0	135.0	142.0					X																	135313098		1925	4118	6043	135140764	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1441A>C	X.37:g.135313098T>G	ENSP00000318086:p.Ile481Leu		135140764	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	t	10.10	1.258793	0.23051	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04015	4.36;3.88;3.88;3.73	5.71	-1.74	0.08056	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.004;0.002;0.004	T	0.46289	-0.9202	9	0.29301	T	0.29	-0.5017	3.6148	0.08073	0.443:0.168:0.0:0.389	.	463;440;481;446	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	L	446;481;463;440	ENSP00000359695:I446L;ENSP00000318086:I481L;ENSP00000359697:I463L;ENSP00000359694:I440L	ENSP00000318086:I481L	I	-	1	0	MAP7D3	135140764	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.118000	0.10692	-0.302000	0.08869	-0.340000	0.08031	ATC		0.373	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
CDR1	1038	hgsc.bcm.edu	37	X	139866322	139866322	+	Silent	SNP	C	C	T	rs191541717		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:139866322C>T	ENST00000370532.2	-	1	401	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	70	23 X 6 AA approximate repeats.							p.S70S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCATAGCTTCCGAAAAATCCA	0.458													C|||	1	0.000264901	0.0	0.0	3775	,	,		15685	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	endometrium(1)	X											82.0	80.0	80.0					X																	139866322		2203	4300	6503	139693988	SO:0001819	synonymous_variant	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.210G>A	X.37:g.139866322C>T			139693988	Q5JXH6	Silent	SNP	ENST00000370532.2	37	CCDS14670.1																																																																																				0.458	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065	
F8	2157	hgsc.bcm.edu	37	X	154157707	154157707	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:154157707A>G	ENST00000360256.4	-	14	4558	c.4358T>C	c.(4357-4359)tTc>tCc	p.F1453S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1453	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCTTGTAAGAAATGACTGCT	0.433																																																	0			X											101.0	99.0	100.0					X																	154157707		2203	4300	6503	153810901	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4358T>C	X.37:g.154157707A>G	ENSP00000353393:p.Phe1453Ser		153810901	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	a	5.468	0.271412	0.10349	.	.	ENSG00000185010	ENST00000360256	D	0.99304	-5.72	5.56	4.19	0.49359	.	0.787548	0.11967	N	0.512145	D	0.97707	0.9248	L	0.59436	1.845	0.09310	N	1	B	0.32245	0.361	B	0.29440	0.102	D	0.96549	0.9406	10	0.72032	D	0.01	-2.1606	7.009	0.24851	0.8797:0.0:0.1203:0.0	.	1453	P00451	FA8_HUMAN	S	1453	ENSP00000353393:F1453S	ENSP00000353393:F1453S	F	-	2	0	F8	153810901	0.527000	0.26306	0.029000	0.17559	0.005000	0.04900	1.911000	0.39937	1.876000	0.54355	0.483000	0.47432	TTC		0.433	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
TLR6	10333	hgsc.bcm.edu	37	4	38829758	38829758	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr4:38829758C>T	ENST00000381950.1	-	1	1402	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	TLR6_ENST00000436693.2_Missense_Mutation_p.R446K			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	446					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R446T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTAAACATCTGAAAACAGA	0.363																																																	1	Substitution - Missense(1)	ovary(1)	4											119.0	128.0	125.0					4																	38829758		2203	4300	6503	38506153	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1337G>A	4.37:g.38829758C>T	ENSP00000371376:p.Arg446Lys		38506153	B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139053	0.37728	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.51071	0.72;0.72	5.14	5.14	0.70334	.	0.229670	0.39020	N	0.001495	T	0.36853	0.0982	L	0.37630	1.12	0.27531	N	0.951097	B	0.11235	0.004	B	0.09377	0.004	T	0.22836	-1.0205	10	0.45353	T	0.12	.	10.2453	0.43336	0.0:0.8708:0.0:0.1292	.	446	Q9Y2C9	TLR6_HUMAN	K	446	ENSP00000389600:R446K;ENSP00000371376:R446K	ENSP00000371376:R446K	R	-	2	0	TLR6	38506153	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.521000	0.45563	2.392000	0.81423	0.484000	0.47621	AGA		0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
EPHA5	2044	hgsc.bcm.edu	37	4	66217173	66217173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr4:66217173G>T	ENST00000273854.3	-	14	3042	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.C815*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.C651*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.C792*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	814	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGACACTTTGCACACAAGGT	0.453										TSP Lung(17;0.13)																																							0			4											139.0	120.0	126.0					4																	66217173		2203	4300	6503	65899768	SO:0001587	stop_gained	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2442C>A	4.37:g.66217173G>T	ENSP00000273854:p.Cys814*		65899768	Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	45	11.947361	0.99620	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.98	5.14	0.70334	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3185	0.49407	0.1386:0.0:0.8614:0.0	.	.	.	.	X	814;651;792;815	.	ENSP00000273854:C814X	C	-	3	2	EPHA5	65899768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.209000	0.42806	1.551000	0.49450	0.585000	0.79938	TGC		0.453	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
ANKRD50	57182	hgsc.bcm.edu	37	4	125592462	125592462	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr4:125592462T>A	ENST00000504087.1	-	4	3007	c.1970A>T	c.(1969-1971)gAg>gTg	p.E657V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E478V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	657										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TACAATATCCTCGTGTCCTCC	0.453																																																	0			4											183.0	155.0	165.0					4																	125592462		2203	4300	6503	125811912	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1970A>T	4.37:g.125592462T>A	ENSP00000425658:p.Glu657Val		125811912	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.321515	0.23994	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.62105	0.05;0.05	5.43	5.43	0.79202	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	N	0.16790	0.44	0.80722	D	1	P	0.36577	0.558	B	0.39068	0.289	T	0.48019	-0.9071	10	0.26408	T	0.33	.	15.6398	0.76989	0.0:0.0:0.0:1.0	.	657	Q9ULJ7	ANR50_HUMAN	V	657;478	ENSP00000425658:E657V;ENSP00000425355:E478V	ENSP00000425658:E657V	E	-	2	0	ANKRD50	125811912	1.000000	0.71417	0.998000	0.56505	0.023000	0.10783	7.365000	0.79537	2.283000	0.76528	0.477000	0.44152	GAG		0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
TRIM60	166655	hgsc.bcm.edu	37	4	165962036	165962036	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr4:165962036G>T	ENST00000512596.1	+	3	1028	c.812G>T	c.(811-813)aGa>aTa	p.R271I	TRIM60_ENST00000341062.5_Missense_Mutation_p.R271I|TRIM60_ENST00000508504.1_Missense_Mutation_p.R271I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	271						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R271T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTTCATTTAGATTAACAAAA	0.388																																																	1	Substitution - Missense(1)	skin(1)	4											59.0	64.0	62.0					4																	165962036		2203	4300	6503	166181486	SO:0001583	missense	166655			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.812G>T	4.37:g.165962036G>T	ENSP00000421142:p.Arg271Ile		166181486	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	g	8.888	0.953305	0.18431	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.05258	3.47;3.47;3.47	2.49	-3.75	0.04372	.	1.773430	0.04021	U	0.299770	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.27262	0.078	T	0.41288	-0.9517	10	0.59425	D	0.04	.	4.9054	0.13795	0.5702:0.174:0.2557:0.0	.	271	Q495X7	TRI60_HUMAN	I	271	ENSP00000421142:R271I;ENSP00000426496:R271I;ENSP00000343765:R271I	ENSP00000343765:R271I	R	+	2	0	TRIM60	166181486	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-1.208000	0.03005	-1.207000	0.02637	-0.751000	0.03497	AGA		0.388	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
SPOCK3	50859	hgsc.bcm.edu	37	4	167675850	167675850	+	Missense_Mutation	SNP	T	T	G	rs555736304		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr4:167675850T>G	ENST00000357154.3	-	9	886	c.749A>C	c.(748-750)aAg>aCg	p.K250T	SPOCK3_ENST00000534949.1_Missense_Mutation_p.K154T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.K250T|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K207T|SPOCK3_ENST00000541637.1_Missense_Mutation_p.K152T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.K247T|SPOCK3_ENST00000512648.1_Missense_Mutation_p.K247T|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K118T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K250T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K152T|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K130T|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K247T|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K250T|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K199T|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K247T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	250					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAGTGAGTCCTTGCAAATTGG	0.368																																																	0			4											135.0	124.0	128.0					4																	167675850		2203	4300	6503	167912425	SO:0001583	missense	50859			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.749A>C	4.37:g.167675850T>G	ENSP00000349677:p.Lys250Thr		167912425	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176075	0.78564	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949;ENST00000512648;ENST00000510403	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	1.22;1.2;1.2;1.22;1.22;1.22;1.37;1.14;0.61;1.2;1.35;1.01;0.61;0.91;1.98	5.64	5.64	0.86602	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.86651	2.83	0.58432	D	0.999997	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.993;0.993;0.995;0.989;0.993	D;D;D;P;P;P;P;P	0.77557	0.935;0.947;0.99;0.855;0.855;0.897;0.691;0.843	T	0.74012	-0.3801	10	0.52906	T	0.07	0.9931	10.5042	0.44823	0.0:0.0725:0.0:0.9275	.	152;154;199;259;207;250;247;250	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;.;TICN3_HUMAN	T	250;247;247;250;250;250;207;130;152;247;118;199;152;154;247;129	ENSP00000349677:K250T;ENSP00000350153:K247T;ENSP00000425570:K247T;ENSP00000420920:K250T;ENSP00000423421:K250T;ENSP00000423606:K250T;ENSP00000426716:K207T;ENSP00000444789:K130T;ENSP00000426318:K152T;ENSP00000425502:K247T;ENSP00000441396:K118T;ENSP00000411344:K199T;ENSP00000445430:K152T;ENSP00000438142:K154T;ENSP00000426177:K247T	ENSP00000349677:K250T	K	-	2	0	SPOCK3	167912425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.041000	0.64196	2.274000	0.75844	0.528000	0.53228	AAG		0.368	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
CLCN3	1182	hgsc.bcm.edu	37	4	170608810	170608810	+	Splice_Site	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr4:170608810T>C	ENST00000513761.1	+	4	879	c.320T>C	c.(319-321)aTc>aCc	p.I107T	CLCN3_ENST00000504131.2_Splice_Site_p.I90T|CLCN3_ENST00000360642.3_Splice_Site_p.I107T|CLCN3_ENST00000347613.4_Splice_Site_p.I107T	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	107					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TAATTTCAGATCAACAGCAAA	0.353																																																	0			4											97.0	92.0	94.0					4																	170608810		2203	4300	6503	170845385	SO:0001630	splice_region_variant	1182			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.319-1T>C	4.37:g.170608810T>C			170845385	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680351	0.88542	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000512813;ENST00000538301;ENST00000504131;ENST00000507875	D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.29	5.29	0.74685	Chloride channel, core (1);	0.000000	0.85682	D	0.000000	D	0.93693	0.7985	L	0.48260	1.515	0.80722	D	1	D;P;P;D;D	0.61080	0.981;0.95;0.95;0.981;0.989	P;P;P;P;P	0.61201	0.844;0.77;0.77;0.844;0.885	D	0.94436	0.7654	10	0.87932	D	0	-7.2237	15.2291	0.73372	0.0:0.0:0.0:1.0	.	107;90;80;107;107	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	T	107;107;107;107;107;107;90;80	ENSP00000425160:I107T;ENSP00000424603:I107T;ENSP00000261514:I107T;ENSP00000353857:I107T;ENSP00000425823:I107T;ENSP00000424540:I90T;ENSP00000425323:I80T	ENSP00000261514:I107T	I	+	2	0	CLCN3	170845385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.998000	0.58463	0.455000	0.32223	ATC		0.353	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		Missense_Mutation
PPP3R1	5534	hgsc.bcm.edu	37	2	68415795	68415795	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:68415795C>T	ENST00000234310.3	-	3	474	c.71G>A	c.(70-72)gGa>gAa	p.G24E	RP11-474G23.1_ENST00000406334.3_Missense_Mutation_p.G14E|PPP3R1_ENST00000409752.1_Missense_Mutation_p.G43E|PPP3R1_ENST00000409377.1_Missense_Mutation_p.G14E	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	24	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lung epithelial cell differentiation (GO:0060487)|NFAT protein import into nucleus (GO:0051531)|patterning of blood vessels (GO:0001569)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein dephosphorylation (GO:0006470)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|protein domain specific binding (GO:0019904)			large_intestine(1)	1						AAATCTCTTTCCTAGCCTTTT	0.363																																																	0			2											50.0	47.0	48.0					2																	68415795		1810	4073	5883	68269299	SO:0001583	missense	5534			M30773	CCDS46310.1	2p14	2013-01-10	2010-04-14		ENSG00000221823	ENSG00000221823	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits"", ""EF-hand domain containing"""	9317	protein-coding gene	gene with protein product	"""calcineurin B, type I (19kDa)"", ""protein phosphatase 2B regulatory subunit B alpha"""	601302	"""protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)"", ""protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform"""			8978785, 2558868	Standard	NM_000945		Approved	CALNB1, CNB, CNB1	uc002sei.1	P63098	OTTHUMG00000129561	ENST00000234310.3:c.71G>A	2.37:g.68415795C>T	ENSP00000234310:p.Gly24Glu		68269299	B2RC10|B5MDU4|P06705|P15117|Q08044|Q53SL0	Missense_Mutation	SNP	ENST00000234310.3	37	CCDS46310.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934955	0.92458	.	.	ENSG00000221823	ENST00000234310;ENST00000409752;ENST00000409377	T;T;T	0.70749	-0.51;-0.51;-0.51	5.93	5.93	0.95920	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	L	0.33753	1.03	0.58432	D	0.999995	B	0.20988	0.05	B	0.18263	0.021	T	0.57917	-0.7728	10	0.45353	T	0.12	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	24	P63098	CANB1_HUMAN	E	24;43;14	ENSP00000234310:G24E;ENSP00000387216:G43E;ENSP00000387148:G14E	ENSP00000234310:G24E	G	-	2	0	PPP3R1	68269299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.738000	0.84966	2.814000	0.96858	0.655000	0.94253	GGA		0.363	PPP3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326765.4	NM_000945	
LRRTM4	80059	hgsc.bcm.edu	37	2	77746015	77746015	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:77746015T>G	ENST00000409093.1	-	3	1316	c.980A>C	c.(979-981)aAg>aCg	p.K327T	LRRTM4_ENST00000409911.1_Missense_Mutation_p.K328T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.K327T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.K328T|LRRTM4_ENST00000409088.3_Missense_Mutation_p.K327T			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	327	LRRCT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTTGAAATTCTTAAGCCAATA	0.388																																																	0			2											40.0	36.0	37.0					2																	77746015		1860	4084	5944	77599523	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.980A>C	2.37:g.77746015T>G	ENSP00000386357:p.Lys327Thr		77599523	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893777	0.33442	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.73	5.73	0.89815	.	0.179666	0.51477	D	0.000084	T	0.08714	0.0216	L	0.40543	1.245	0.40661	D	0.982128	P;P;P	0.47910	0.902;0.848;0.902	P;P;P	0.51229	0.448;0.65;0.663	T	0.46020	-0.9221	10	0.13470	T	0.59	.	14.8361	0.70183	0.0:0.0:0.0:1.0	.	328;327;327	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	T	328;327;327;327;328	ENSP00000387228:K328T;ENSP00000387297:K327T;ENSP00000386357:K327T;ENSP00000386236:K327T;ENSP00000386286:K328T	ENSP00000386236:K327T	K	-	2	0	LRRTM4	77599523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.475000	0.45162	2.175000	0.68902	0.533000	0.62120	AAG		0.388	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
SFTPB	6439	hgsc.bcm.edu	37	2	85895300	85895300	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:85895300C>T	ENST00000519937.2	-	1	26	c.7G>A	c.(7-9)Gag>Aag	p.E3K	SFTPB_ENST00000409383.1_Missense_Mutation_p.E15K|SFTPB_ENST00000393822.3_Missense_Mutation_p.E15K|SFTPB_ENST00000342375.3_Missense_Mutation_p.E3K			P07988	PSPB_HUMAN	surfactant protein B	3					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AGGTGTGACTCAGCCATGGCA	0.667																																																	0			2											38.0	24.0	29.0					2																	85895300		2024	3918	5942	85748811	SO:0001583	missense	6439			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.7G>A	2.37:g.85895300C>T	ENSP00000428719:p.Glu3Lys		85748811	Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37		.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167713	0.01660	.	.	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	T;T;T;T	0.67345	0.78;-0.07;-0.26;-0.07	4.0	1.56	0.23342	.	3.353680	0.01511	N	0.017948	T	0.33294	0.0858	N	0.00926	-1.1	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50516	-0.8819	10	0.02654	T	1	-9.4914	5.7426	0.18102	0.0:0.2253:0.0:0.7747	.	15;3	D6W5L6;P07988	.;PSPB_HUMAN	K	5;15;3;15;3	ENSP00000428719:E5K;ENSP00000377409:E15K;ENSP00000345161:E3K;ENSP00000386346:E15K	ENSP00000345161:E3K	E	-	1	0	SFTPB	85748811	0.177000	0.23109	0.998000	0.56505	0.017000	0.09413	-0.026000	0.12392	0.217000	0.20800	-1.004000	0.02495	GAG		0.667	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843	
KCNH7	90134	hgsc.bcm.edu	37	2	163256866	163256866	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:163256866C>A	ENST00000332142.5	-	10	2339	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	747					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACTTGCCCCCCGAAAGGCTTT	0.478																																					GBM(196;1492 2208 17507 24132 45496)												0			2											127.0	130.0	129.0					2																	163256866		2203	4300	6503	162965112	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2240G>T	2.37:g.163256866C>A	ENSP00000331727:p.Arg747Leu		162965112	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064853	0.55432	.	.	ENSG00000184611	ENST00000332142	D	0.96885	-4.16	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.226045	0.46145	D	0.000318	D	0.93592	0.7954	L	0.45352	1.415	0.80722	D	1	P	0.38745	0.645	B	0.36885	0.235	D	0.93795	0.7096	10	0.66056	D	0.02	.	13.6126	0.62088	0.0:0.9256:0.0:0.0744	.	747	Q9NS40	KCNH7_HUMAN	L	747	ENSP00000331727:R747L	ENSP00000331727:R747L	R	-	2	0	KCNH7	162965112	0.938000	0.31826	1.000000	0.80357	0.997000	0.91878	1.929000	0.40114	2.571000	0.86741	0.591000	0.81541	CGG		0.478	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
SCN3A	6328	hgsc.bcm.edu	37	2	165952157	165952157	+	Splice_Site	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:165952157A>G	ENST00000360093.3	-	25	4786	c.4295T>C	c.(4294-4296)gTt>gCt	p.V1432A	SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000409101.3_Splice_Site_p.V1383A|SCN3A_ENST00000283254.7_Splice_Site_p.V1432A|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1432					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAAGTTTAACCTAAATGAT	0.264																																																	0			2											37.0	36.0	37.0					2																	165952157		2197	4294	6491	165660403	SO:0001630	splice_region_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4294-1T>C	2.37:g.165952157A>G			165660403	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	A	10.23	1.293585	0.23564	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96522	-4.04;-4.04;-3.99	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	D	0.95739	0.8614	M	0.85542	2.76	0.80722	D	1	B;B;B	0.25272	0.122;0.122;0.01	B;B;B	0.25291	0.059;0.059;0.042	D	0.94256	0.7498	10	0.66056	D	0.02	.	10.8051	0.46514	0.8589:0.0:0.0:0.1411	.	1383;1383;1432	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	A	1432;1432;1383	ENSP00000353206:V1432A;ENSP00000283254:V1432A;ENSP00000386726:V1383A	ENSP00000283254:V1432A	V	-	2	0	SCN3A	165660403	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	3.968000	0.56809	2.333000	0.79357	0.482000	0.46254	GTT		0.264	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Missense_Mutation
TTN	7273	hgsc.bcm.edu	37	2	179584867	179584867	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:179584867T>G	ENST00000591111.1	-	79	22775	c.22551A>C	c.(22549-22551)gaA>gaC	p.E7517D	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E7834D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6590D			Q8WZ42	TITIN_HUMAN	titin	13071	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGATGACTTCACCTCTAT	0.438																																																	0			2											107.0	100.0	102.0					2																	179584867		1859	4093	5952	179293112	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22551A>C	2.37:g.179584867T>G	ENSP00000465570:p.Glu7517Asp		179293112	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	11.09	1.536819	0.27475	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	5.9	0.796	0.18648	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61375	0.2342	M	0.63208	1.945	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57573	-0.7788	9	0.87932	D	0	.	11.0092	0.47652	0.1042:0.0:0.535:0.3608	.	7517	Q8WZ42	TITIN_HUMAN	D	6590	ENSP00000343764:E6590D	ENSP00000343764:E6590D	E	-	3	2	TTN	179293112	0.000000	0.05858	0.996000	0.52242	0.973000	0.67179	-1.906000	0.01590	-0.083000	0.12618	-0.340000	0.08031	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MDH1B	130752	hgsc.bcm.edu	37	2	207620125	207620125	+	Missense_Mutation	SNP	G	G	A	rs112729308	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:207620125G>A	ENST00000374412.3	-	5	793	c.518C>T	c.(517-519)gCg>gTg	p.A173V	MDH1B_ENST00000449792.1_Missense_Mutation_p.A75V|MDH1B_ENST00000454776.2_Missense_Mutation_p.A173V|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	173					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATGTTCTTCCGCCTGCTTGTT	0.517													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20572	0.0		0.0	False		,,,				2504	0.0				Pancreas(76;29 1355 28675 37177 51207)												0			2						G	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	95.0	85.0	88.0		518	-2.8	0.0	2	dbSNP_132	88	0,8600		0,0,4300	yes	missense	MDH1B	NM_001039845.1	64	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	173/519	207620125	3,13003	2203	4300	6503	207328370	SO:0001583	missense	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.518C>T	2.37:g.207620125G>A	ENSP00000363533:p.Ala173Val		207328370	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	8.794	0.931370	0.18131	6.81E-4	0.0	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.44881	0.91;0.91;0.91	5.54	-2.8	0.05823	NAD(P)-binding domain (1);	2.209980	0.01250	N	0.008861	T	0.34745	0.0908	M	0.65975	2.015	0.09310	N	0.999999	B;B	0.18461	0.028;0.017	B;B	0.14023	0.01;0.004	T	0.03922	-1.0992	10	0.16420	T	0.52	4.2796	0.9914	0.01458	0.3888:0.1132:0.2964:0.2016	.	173;173	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	V	173;75;173	ENSP00000363533:A173V;ENSP00000416577:A75V;ENSP00000389916:A173V	ENSP00000363533:A173V	A	-	2	0	MDH1B	207328370	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.675000	0.05227	-0.339000	0.08401	0.650000	0.86243	GCG		0.517	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
IDH1	3417	hgsc.bcm.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	2											79.0	73.0	75.0					2																	209113112		2203	4300	6503	208821357	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		208821357	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
MAP2	4133	hgsc.bcm.edu	37	2	210560896	210560896	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:210560896A>C	ENST00000360351.4	+	7	4508	c.4002A>C	c.(4000-4002)gaA>gaC	p.E1334D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1330D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1334					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTGAAGTAGAAGAGGCAGCTG	0.522																																					Pancreas(27;423 979 28787 29963)												0			2											77.0	84.0	81.0					2																	210560896		2203	4300	6503	210269141	SO:0001583	missense	10988				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4002A>C	2.37:g.210560896A>C	ENSP00000353508:p.Glu1334Asp		210269141	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	9.258	1.042471	0.19748	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.18810	2.19;2.19	5.73	0.798	0.18660	MAP2/Tau projection (1);	0.307617	0.27549	N	0.018872	T	0.11750	0.0286	N	0.25647	0.755	0.40662	D	0.982131	B;B	0.15719	0.011;0.014	B;B	0.20184	0.016;0.028	T	0.11817	-1.0572	10	0.40728	T	0.16	-7.7148	3.8872	0.09103	0.418:0.0:0.3232:0.2588	.	1330;1334	P11137-3;P11137	.;MAP2_HUMAN	D	1334;1330	ENSP00000353508:E1334D;ENSP00000392164:E1330D	ENSP00000353508:E1334D	E	+	3	2	MAP2	210269141	0.995000	0.38212	0.895000	0.35142	0.740000	0.42216	0.355000	0.20163	0.118000	0.18165	0.528000	0.53228	GAA		0.522	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
ABCA12	26154	hgsc.bcm.edu	37	2	215843133	215843133	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:215843133A>C	ENST00000272895.7	-	33	5254	c.5035T>G	c.(5035-5037)Tta>Gta	p.L1679V	ABCA12_ENST00000389661.4_Missense_Mutation_p.L1361V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1679					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTGTGTTAAGTGCTCAAGA	0.388																																					Ovarian(66;664 1488 5121 34295)												0			2											182.0	164.0	170.0					2																	215843133		2203	4300	6503	215551378	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5035T>G	2.37:g.215843133A>C	ENSP00000272895:p.Leu1679Val		215551378	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	9.132	1.011712	0.19277	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86297	-2.1;-2.1	5.31	4.16	0.48862	.	0.574535	0.14559	N	0.312173	D	0.85544	0.5721	M	0.76170	2.325	0.80722	D	1	B;B	0.21147	0.031;0.052	B;B	0.26969	0.034;0.075	T	0.77787	-0.2457	10	0.21014	T	0.42	.	9.4834	0.38915	0.9155:0.0:0.0845:0.0	.	1679;1361	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	1679;1361	ENSP00000272895:L1679V;ENSP00000374312:L1361V	ENSP00000272895:L1679V	L	-	1	2	ABCA12	215551378	0.979000	0.34478	0.996000	0.52242	0.302000	0.27658	1.541000	0.36126	0.961000	0.38030	0.533000	0.62120	TTA		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
NGEF	25791	hgsc.bcm.edu	37	2	233834941	233834941	+	Silent	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:233834941T>C	ENST00000264051.3	-	3	644	c.366A>G	c.(364-366)ccA>ccG	p.P122P		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	122	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CCTGGGCTCCTGGGTCTGTCT	0.493																																																	0			2											166.0	132.0	144.0					2																	233834941		2203	4300	6503	233543185	SO:0001819	synonymous_variant	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.366A>G	2.37:g.233834941T>C			233543185	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	ENST00000264051.3	37	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	T	4.105	0.017603	0.07959	.	.	ENSG00000066248	ENST00000414326	.	.	.	4.29	0.11	0.14611	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-0.5332	3.6971	0.08368	0.0:0.2509:0.1904:0.5587	.	.	.	.	R	91	.	.	Q	-	2	0	NGEF	233543185	0.001000	0.12720	0.016000	0.15963	0.065000	0.16274	-0.324000	0.07986	-0.071000	0.12886	-0.487000	0.04747	CAG		0.493	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
USP40	55230	hgsc.bcm.edu	37	2	234399874	234399874	+	Missense_Mutation	SNP	A	A	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:234399874A>C	ENST00000427112.2	-	25	2983	c.2948T>G	c.(2947-2949)cTc>cGc	p.L983R	USP40_ENST00000251722.6_Missense_Mutation_p.L983R|USP40_ENST00000450966.1_Missense_Mutation_p.L995R|USP40_ENST00000496298.1_5'Flank			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	983					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAAGTAGAGGAGAGAAACTTG	0.463																																																	0			2											46.0	46.0	46.0					2																	234399874		1894	4127	6021	234064613	SO:0001583	missense	55230			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2948T>G	2.37:g.234399874A>C	ENSP00000387898:p.Leu983Arg		234064613	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.13|13.13	2.145463|2.145463	0.37825|0.37825	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112|ENST00000430158	T;T;T|.	0.10477|.	2.87;2.88;2.88|.	4.95|4.95	3.78|3.78	0.43462|0.43462	.|.	3.808960|.	0.00520|.	N|.	0.000196|.	T|T	0.47967|0.47967	0.1474|0.1474	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.65874|.	0.939;0.93|.	T|T	0.35276|0.35276	-0.9795|-0.9795	10|5	0.87932|.	D|.	0|.	.|.	9.9826|9.9826	0.41821|0.41821	0.9184:0.0:0.0816:0.0|0.9184:0.0:0.0816:0.0	.|.	995;643|.	Q9NVE5-3;B4DN96|.	.;.|.	R|A	995;983;983|159	ENSP00000415434:L995R;ENSP00000251722:L983R;ENSP00000387898:L983R|.	ENSP00000251722:L983R|.	L|S	-|-	2|1	0|0	USP40|USP40	234064613|234064613	0.998000|0.998000	0.40836|0.40836	0.166000|0.166000	0.22797|0.22797	0.124000|0.124000	0.20399|0.20399	5.759000|5.759000	0.68785|0.68785	1.988000|1.988000	0.58038|0.58038	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.463	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
RANBP6	26953	hgsc.bcm.edu	37	9	6013873	6013873	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr9:6013873C>T	ENST00000259569.5	-	1	1745	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	579					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E579K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAATTTTTCCTTCCCAACA	0.393																																																	1	Substitution - Missense(1)	ovary(1)	9											159.0	152.0	154.0					9																	6013873		2203	4300	6503	6003873	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1735G>A	9.37:g.6013873C>T	ENSP00000259569:p.Glu579Lys		6003873	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951946	0.53293	.	.	ENSG00000137040	ENST00000259569	T	0.68765	-0.35	3.76	2.86	0.33363	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.79470	0.4451	M	0.85859	2.78	0.80722	D	1	D;D	0.71674	0.998;0.987	D;P	0.64506	0.926;0.78	T	0.80808	-0.1217	10	0.62326	D	0.03	-11.9682	9.4465	0.38701	0.0:0.8934:0.0:0.1066	.	167;579	B4DTX6;O60518	.;RNBP6_HUMAN	K	579	ENSP00000259569:E579K	ENSP00000259569:E579K	E	-	1	0	RANBP6	6003873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.662000	0.61525	1.162000	0.42619	0.650000	0.86243	GAA		0.393	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
UNC13B	10497	hgsc.bcm.edu	37	9	35310725	35310725	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr9:35310725C>G	ENST00000378495.3	+	9	1245	c.1023C>G	c.(1021-1023)caC>caG	p.H341Q	UNC13B_ENST00000378496.4_Missense_Mutation_p.H341Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.H353Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	341					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCACAACCCACCCTCCCCCAG	0.537																																																	0			9											107.0	98.0	101.0					9																	35310725		2203	4300	6503	35300725	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1023C>G	9.37:g.35310725C>G	ENSP00000367756:p.His341Gln		35300725	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	0.108	-1.142115	0.01728	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;T;D	0.83075	-1.56;-1.49;-1.68	5.81	-3.19	0.05171	.	1.179490	0.05832	N	0.617769	T	0.54240	0.1846	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.13407	0.001;0.009;0.001	T	0.40534	-0.9558	10	0.20519	T	0.43	0.5164	0.2385	0.00189	0.3024:0.2469:0.2322:0.2185	.	341;341;341	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	Q	353;341;341	ENSP00000380006:H353Q;ENSP00000367756:H341Q;ENSP00000367757:H341Q	ENSP00000367756:H341Q	H	+	3	2	UNC13B	35300725	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.032000	0.12266	-0.445000	0.07159	-0.857000	0.03018	CAC		0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
OR13C8	138802	hgsc.bcm.edu	37	9	107332184	107332184	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr9:107332184A>G	ENST00000335040.1	+	1	736	c.736A>G	c.(736-738)Aca>Gca	p.T246A		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGCCCACCTGACAGTGGTGAT	0.423																																																	0			9											122.0	113.0	116.0					9																	107332184		2203	4300	6503	106372005	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.736A>G	9.37:g.107332184A>G	ENSP00000334068:p.Thr246Ala		106372005	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390914	0.25118	.	.	ENSG00000186943	ENST00000335040	T	0.37235	1.21	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.34279	0.0892	L	0.56340	1.77	0.09310	N	1	B	0.25486	0.127	B	0.33620	0.167	T	0.24119	-1.0169	10	0.38643	T	0.18	.	7.4015	0.26967	0.9042:0.0:0.0958:0.0	.	246	Q8NGS7	O13C8_HUMAN	A	246	ENSP00000334068:T246A	ENSP00000334068:T246A	T	+	1	0	OR13C8	106372005	0.000000	0.05858	0.989000	0.46669	0.993000	0.82548	0.646000	0.24797	2.181000	0.69327	0.459000	0.35465	ACA		0.423	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
ZNF618	114991	hgsc.bcm.edu	37	9	116779063	116779063	+	Splice_Site	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr9:116779063C>A	ENST00000374126.5	+	10	942	c.843C>A	c.(841-843)atC>atA	p.I281I	ZNF618_ENST00000288466.7_Splice_Site_p.I269I			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACGCCCCCATCAGTGAGTACC	0.577																																																	0			9											55.0	54.0	54.0					9																	116779063		1891	4114	6005	115818884	SO:0001630	splice_region_variant	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.844+1C>A	9.37:g.116779063C>A			115818884	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																					0.577	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	Silent
NBEA	26960	hgsc.bcm.edu	37	13	35615220	35615220	+	Silent	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr13:35615220C>A	ENST00000400445.3	+	2	979	c.445C>A	c.(445-447)Cgg>Agg	p.R149R	NBEA_ENST00000379939.2_Silent_p.R149R|NBEA_ENST00000540320.1_Silent_p.R149R|NBEA_ENST00000310336.4_Silent_p.R149R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	149					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R149W(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAAAGTGTTCGGAATTTACA	0.403																																																	1	Substitution - Missense(1)	ovary(1)	13											92.0	85.0	87.0					13																	35615220		1890	4150	6040	34513220	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.445C>A	13.37:g.35615220C>A			34513220	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	CCDS45026.1																																																																																				0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
RB1	5925	hgsc.bcm.edu	37	13	48947576	48947576	+	Missense_Mutation	SNP	T	T	C	rs373623059		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr13:48947576T>C	ENST00000267163.4	+	12	1301	c.1163T>C	c.(1162-1164)aTt>aCt	p.I388T		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	388	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.I388S(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTAATGATGATTTTAAATTCA	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Substitution - Missense(1)	bone(11)|breast(6)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											106.0	114.0	112.0					13																	48947576		2202	4288	6490	47845577	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1163T>C	13.37:g.48947576T>C	ENSP00000267163:p.Ile388Thr		47845577	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.830563	0.32329	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88124	-2.34	5.54	4.37	0.52481	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.219298	0.47093	N	0.000248	T	0.74779	0.3761	N	0.26042	0.785	0.42957	D	0.994391	B	0.33637	0.42	B	0.28553	0.091	T	0.67791	-0.5579	10	0.16420	T	0.52	.	8.5803	0.33623	0.0:0.1482:0.0:0.8518	.	388	P06400	RB_HUMAN	T	367;388	ENSP00000267163:I388T	ENSP00000267163:I388T	I	+	2	0	RB1	47845577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.401000	0.44513	0.946000	0.37632	0.460000	0.39030	ATT		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
PTEN	5728	hgsc.bcm.edu	37	10	89692903	89692903	+	Silent	SNP	A	A	G			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr10:89692903A>G	ENST00000371953.3	+	5	1744	c.387A>G	c.(385-387)ggA>ggG	p.G129G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	129	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in CWS1; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation). {ECO:0000269|PubMed:9140396}.|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9072974, ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.G129fs*5(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGGAAAGGGACGAACTGGTG	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	58	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)	prostate(16)|central_nervous_system(12)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|endometrium(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	10											142.0	131.0	135.0					10																	89692903		2203	4300	6503	89682883	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.387A>G	10.37:g.89692903A>G			89682883	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
BLNK	29760	hgsc.bcm.edu	37	10	97983657	97983657	+	Silent	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr10:97983657G>T	ENST00000224337.5	-	6	591	c.450C>A	c.(448-450)acC>acA	p.T150T	BLNK_ENST00000427367.2_Silent_p.T150T|BLNK_ENST00000371176.2_Silent_p.T150T|BLNK_ENST00000413476.2_Silent_p.T150T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	150	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GCAGGGTGGAGGTGAGCCTTG	0.537																																																	0			10											134.0	127.0	129.0					10																	97983657		2203	4300	6503	97973647	SO:0001819	synonymous_variant	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.450C>A	10.37:g.97983657G>T			97973647	O75498|O75499|Q2MD49	Silent	SNP	ENST00000224337.5	37	CCDS7446.1																																																																																				0.537	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	
TLX1NB	100038246	hgsc.bcm.edu	37	10	102849625	102849625	+	Missense_Mutation	SNP	C	C	T	rs151326673	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr10:102849625C>T	ENST00000445873.1	-	3	1314	c.38G>A	c.(37-39)cGg>cAg	p.R13Q	TLX1NB_ENST00000425505.1_5'Flank	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	13																	CCATGCCCCCCGCCTTCCCCA	0.622													C|||	21	0.00419329	0.0159	0.0	5008	,	,		15532	0.0		0.0	False		,,,				2504	0.0																0			10						C	GLN/ARG	44,3794		0,44,1875	16.0	18.0	17.0		38	0.1	0.0	10	dbSNP_134	17	1,8201		0,1,4100	yes	missense	TLX1NB	NM_001085398.1	43	0,45,5975	TT,TC,CC		0.0122,1.1464,0.3738	possibly-damaging	13/123	102849625	45,11995	1919	4101	6020	102839615	SO:0001583	missense	0			BC019674	CCDS60615.1	10q24	2014-04-01			ENSG00000236311	ENSG00000236311			37183	protein-coding gene	gene with protein product		612734				17303350	Standard	NM_001085398		Approved	TD1, TDI, APT-B7	uc001ksv.3	P0CAT3	OTTHUMG00000018925	ENST00000445873.1:c.38G>A	10.37:g.102849625C>T	ENSP00000475001:p.Arg13Gln		102839615		Missense_Mutation	SNP	ENST00000445873.1	37																																																																																					0.622	TLX1NB-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000049925.2	NM_001085398	
OTULIN	90268	hgsc.bcm.edu	37	5	14687711	14687711	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:14687711C>A	ENST00000284274.4	+	5	628	c.550C>A	c.(550-552)Ctg>Atg	p.L184M		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		184	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GAATGAGGACCTGGTTGATAA	0.413																																																	0			5											140.0	144.0	143.0					5																	14687711		1835	4089	5924	14740711	SO:0001583	missense	90268																														ENST00000284274.4:c.550C>A	5.37:g.14687711C>A	ENSP00000284274:p.Leu184Met		14740711	D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732146	0.69189	.	.	ENSG00000154124	ENST00000284274	T	0.17370	2.28	6.17	6.17	0.99709	.	0.214339	0.41194	D	0.000933	T	0.31199	0.0789	L	0.36672	1.1	0.34688	D	0.725434	D	0.76494	0.999	D	0.72075	0.976	T	0.20638	-1.0269	10	0.52906	T	0.07	-20.5998	13.3717	0.60717	0.1668:0.8332:0.0:0.0	.	184	Q96BN8	F105B_HUMAN	M	184	ENSP00000284274:L184M	ENSP00000284274:L184M	L	+	1	2	FAM105B	14740711	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.513000	0.45494	2.941000	0.99782	0.655000	0.94253	CTG		0.413	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		
CDH10	1008	hgsc.bcm.edu	37	5	24487992	24487992	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:24487992T>C	ENST00000264463.4	-	12	2654	c.2147A>G	c.(2146-2148)gAa>gGa	p.E716G	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	716					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTAGCCTTTCATTAATGAA	0.458										HNSCC(23;0.051)																																							0			5											93.0	98.0	97.0					5																	24487992		2203	4300	6503	24523749	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2147A>G	5.37:g.24487992T>C	ENSP00000264463:p.Glu716Gly		24523749	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645906	0.29246	.	.	ENSG00000040731	ENST00000264463	T	0.79454	-1.27	5.68	5.68	0.88126	Cadherin, cytoplasmic domain (1);	0.277720	0.42294	D	0.000729	T	0.67822	0.2934	L	0.28192	0.835	0.32239	N	0.572965	B	0.02656	0.0	B	0.08055	0.003	T	0.69756	-0.5059	10	0.44086	T	0.13	.	15.1134	0.72380	0.0:0.0:0.0:1.0	.	716	Q9Y6N8	CAD10_HUMAN	G	716	ENSP00000264463:E716G	ENSP00000264463:E716G	E	-	2	0	CDH10	24523749	1.000000	0.71417	0.471000	0.27229	0.996000	0.88848	3.602000	0.54066	2.175000	0.68902	0.533000	0.62120	GAA		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
APC	324	hgsc.bcm.edu	37	5	112174424	112174424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:112174424C>T	ENST00000457016.1	+	16	3513	c.3133C>T	c.(3133-3135)Cag>Tag	p.Q1045*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1045*|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1045*			P25054	APC_HUMAN	adenomatous polyposis coli	1045	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1045*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTCCTTCACAGAATGAAAG	0.333		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Nonsense(1)|Unknown(1)	large_intestine(1)|skin(1)	5	GRCh37	CM940070	APC	M							64.0	64.0	64.0					5																	112174424		2202	4300	6502	112202323	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3133C>T	5.37:g.112174424C>T	ENSP00000413133:p.Gln1045*		112202323	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.850017	0.97885	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	5.76	0.90799	.	0.058024	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-7.9916	15.141	0.72609	0.0:0.9305:0.0:0.0695	.	.	.	.	X	1045;1027;1045;1045;1045	.	ENSP00000257430:Q1045X	Q	+	1	0	APC	112202323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.465000	0.73538	2.726000	0.93360	0.655000	0.94253	CAG		0.333	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA11	56138	hgsc.bcm.edu	37	5	140250830	140250830	+	Silent	SNP	G	G	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:140250830G>T	ENST00000398640.2	+	1	2142	c.2142G>T	c.(2140-2142)ctG>ctT	p.L714L	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	714					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCACGCTGCTGCTGTATA	0.687																																																	0			5											39.0	40.0	40.0					5																	140250830		2203	4300	6503	140231014	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2142G>T	5.37:g.140250830G>T			140231014	B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	CCDS47284.1																																																																																				0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
GABRA6	2559	hgsc.bcm.edu	37	5	161119061	161119061	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:161119061T>C	ENST00000274545.5	+	8	1374	c.941T>C	c.(940-942)gTc>gCc	p.V314A	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V304A			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	314					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTGCATTCGTCTTCTCTGCG	0.483										TCGA Ovarian(5;0.080)																																							0			5											176.0	145.0	155.0					5																	161119061		2203	4300	6503	161051639	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.941T>C	5.37:g.161119061T>C	ENSP00000274545:p.Val314Ala		161051639	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810009	0.90707	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.88818	-2.43;-2.43	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96144	0.8743	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97401	0.9996	10	0.87932	D	0	.	15.2799	0.73773	0.0:0.0:0.0:1.0	.	314	Q16445	GBRA6_HUMAN	A	314;304	ENSP00000274545:V314A;ENSP00000430527:V304A	ENSP00000274545:V314A	V	+	2	0	GABRA6	161051639	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.946000	0.87746	1.997000	0.58415	0.528000	0.53228	GTC		0.483	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
GABRA1	2554	hgsc.bcm.edu	37	5	161300147	161300147	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:161300147C>T	ENST00000428797.2	+	6	635	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	GABRA1_ENST00000420560.1_Missense_Mutation_p.R94C|GABRA1_ENST00000444819.1_Missense_Mutation_p.R94C|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94C|GABRA1_ENST00000023897.6_Missense_Mutation_p.R94C|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94C	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R94C(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTATTTTTCCGTCAAAGCTG	0.373																																																	1	Substitution - Missense(1)	prostate(1)	5											91.0	97.0	95.0					5																	161300147		2203	4300	6503	161232725	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.280C>T	5.37:g.161300147C>T	ENSP00000393097:p.Arg94Cys		161232725	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257033	0.80246	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.107484	0.64402	D	0.000008	D	0.92727	0.7688	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93907	0.7193	10	0.87932	D	0	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	94	P14867	GBRA1_HUMAN	C	94	ENSP00000023897:R94C;ENSP00000393097:R94C;ENSP00000377517:R94C;ENSP00000415441:R94C;ENSP00000408041:R94C;ENSP00000414232:R94C;ENSP00000430435:R94C	ENSP00000023897:R94C	R	+	1	0	GABRA1	161232725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	2.717000	0.92951	0.585000	0.79938	CGT		0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
RPTN	126638	hgsc.bcm.edu	37	1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	rs369805852|rs78544048|rs375710188|rs368770198|rs200003389|rs117596468|rs76015112|rs199889562	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492																																																	2	Complex(1)|Deletion - In frame(1)	stomach(1)|skin(1)	1																																								150395725	SO:0001651	inframe_deletion	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	1.37:g.152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENSP00000317895:p.His158_His169del		150395690	B7ZBZ3	In_Frame_Del	DEL	ENST00000316073.3	37	CCDS41397.1																																																																																				0.492	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del|AC105344.2_ENST00000414876.1_lincRNA			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
APC	324	hgsc.bcm.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A	rs587783031		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)	5																																								112203851	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs		112203850	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.342	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0.0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT			263602		Frame_Shift_Del	DEL		37																																																																																				0	0								
CCL11	6356	hgsc.bcm.edu	37	17	32612830	32612832	+	Start_Codon_Del	DEL	GAA	GAA	-	rs549369948		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:32612830_32612832delGAA	ENST00000305869.3	+	0	144_146					NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11						actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCTCCAACATGAAGGTCTCCGCA	0.591																																																	0			17																																								29636945	SO:0001582	initiator_codon_variant	6356			AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884		17.37:g.32612830_32612832delGAA			29636943	P50877|Q92490|Q92491	In_Frame_Del	DEL	ENST00000305869.3	37	CCDS11279.1																																																																																				0.591	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986	
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
SMAD4	4089	hgsc.bcm.edu	37	18	48591923	48591925	+	In_Frame_Del	DEL	TTG	TTG	-	rs377767348|rs377767349|rs1801250	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	TTG	TTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr18:48591923_48591925delTTG	ENST00000342988.3	+	9	1624_1626	c.1086_1088delTTG	c.(1084-1089)ttttgt>ttt	p.C363del	SMAD4_ENST00000398417.2_In_Frame_Del_p.C363del|SMAD4_ENST00000588745.1_In_Frame_Del_p.C267del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	363	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				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.?(2)|p.C363R(1)|p.C363S(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)		GAGATCGCTTTTGTTTGGGTCAA	0.414																																																	40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	pancreas(27)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18	GRCh37	CD064635|CM075017	SMAD4	D|M																																				46845923	SO:0001651	inframe_deletion	4089			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.1086_1088delTTG	18.37:g.48591923_48591925delTTG	ENSP00000341551:p.Cys363del		46845921	A8K405	In_Frame_Del	DEL	ENST00000342988.3	37	CCDS11950.1																																																																																				0.414	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del		28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
UBQLN2	29978	hgsc.bcm.edu	37	X	56591723	56591724	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:56591723_56591724insT	ENST00000338222.5	+	1	1698_1699	c.1417_1418insT	c.(1417-1419)attfs	p.I473fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	473					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ACCTGGCCTGATTCCGAGCTTC	0.574																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0			X																																								56608449	SO:0001589	frameshift_variant	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1419dupT	X.37:g.56591725_56591725dupT	ENSP00000345195:p.Ile473fs		56608448	O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Ins	INS	ENST00000338222.5	37	CCDS14374.1																																																																																				0.574	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
RPTN	126638	hgsc.bcm.edu	37	1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	rs369805852|rs78544048|rs375710188|rs368770198|rs200003389|rs117596468|rs76015112|rs199889562	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492																																																	2	Complex(1)|Deletion - In frame(1)	stomach(1)|skin(1)	1																																								150395725	SO:0001651	inframe_deletion	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	1.37:g.152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENSP00000317895:p.His158_His169del		150395690	B7ZBZ3	In_Frame_Del	DEL	ENST00000316073.3	37	CCDS41397.1																																																																																				0.492	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del|AC105344.2_ENST00000414876.1_lincRNA			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
APC	324	hgsc.bcm.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A	rs587783031		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)	5																																								112203851	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs		112203850	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.342	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0.0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT			263602		Frame_Shift_Del	DEL		37																																																																																				0	0								
CCL11	6356	hgsc.bcm.edu	37	17	32612830	32612832	+	Start_Codon_Del	DEL	GAA	GAA	-	rs549369948		TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	GAA	GAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:32612830_32612832delGAA	ENST00000305869.3	+	0	144_146					NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11						actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCTCCAACATGAAGGTCTCCGCA	0.591																																																	0			17																																								29636945	SO:0001582	initiator_codon_variant	6356			AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884		17.37:g.32612830_32612832delGAA			29636943	P50877|Q92490|Q92491	In_Frame_Del	DEL	ENST00000305869.3	37	CCDS11279.1																																																																																				0.591	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986	
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
SMAD4	4089	hgsc.bcm.edu	37	18	48591923	48591925	+	In_Frame_Del	DEL	TTG	TTG	-	rs377767348|rs377767349|rs1801250	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	TTG	TTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr18:48591923_48591925delTTG	ENST00000342988.3	+	9	1624_1626	c.1086_1088delTTG	c.(1084-1089)ttttgt>ttt	p.C363del	SMAD4_ENST00000398417.2_In_Frame_Del_p.C363del|SMAD4_ENST00000588745.1_In_Frame_Del_p.C267del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	363	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				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.?(2)|p.C363R(1)|p.C363S(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)		GAGATCGCTTTTGTTTGGGTCAA	0.414																																																	40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	pancreas(27)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18	GRCh37	CD064635|CM075017	SMAD4	D|M																																				46845923	SO:0001651	inframe_deletion	4089			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.1086_1088delTTG	18.37:g.48591923_48591925delTTG	ENSP00000341551:p.Cys363del		46845921	A8K405	In_Frame_Del	DEL	ENST00000342988.3	37	CCDS11950.1																																																																																				0.414	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del		28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
UBQLN2	29978	hgsc.bcm.edu	37	X	56591723	56591724	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F5-6464-01A-11D-1733-10	TCGA-F5-6464-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	c56b4512-6203-4be1-bcd4-c57301c901c0	1ade85ad-e4ad-450e-9b4a-ab37dd6fdf28	g.chrX:56591723_56591724insT	ENST00000338222.5	+	1	1698_1699	c.1417_1418insT	c.(1417-1419)attfs	p.I473fs		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	473					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ACCTGGCCTGATTCCGAGCTTC	0.574																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0			X																																								56608449	SO:0001589	frameshift_variant	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1419dupT	X.37:g.56591725_56591725dupT	ENSP00000345195:p.Ile473fs		56608448	O94798|Q5D027|Q9H3W6|Q9HAZ4	Frame_Shift_Ins	INS	ENST00000338222.5	37	CCDS14374.1																																																																																				0.574	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
