#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
ELFN1	392617	hgsc.bcm.edu	37	7	1786670	1786670	+	Missense_Mutation	SNP	A	A	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:1786670A>C	ENST00000424383.2	+	3	2925	c.2438A>C	c.(2437-2439)cAc>cCc	p.H813P	ELFN1_ENST00000561626.1_Missense_Mutation_p.H813P|ELFN1_ENST00000541472.1_Missense_Mutation_p.H791P			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	813					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						GAGGATCTGCACGACATCCTG	0.617																																																	0			7											57.0	60.0	59.0					7																	1786670		692	1591	2283	1753196	SO:0001583	missense	392617				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.2438A>C	7.37:g.1786670A>C	ENSP00000456548:p.His813Pro		1753196	H3BS57	Missense_Mutation	SNP	ENST00000424383.2	37	CCDS59046.1																																																																																				0.617	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322893.2	NM_001128636	
CARD11	84433	hgsc.bcm.edu	37	7	2984152	2984152	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:2984152G>A	ENST00000396946.4	-	5	781	c.378C>T	c.(376-378)ggC>ggT	p.G126G	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	126					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGTGCGTGAGGCCCTCGTGGC	0.622			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0			7											59.0	55.0	56.0					7																	2984152		2203	4300	6503	2950678	SO:0001819	synonymous_variant	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.378C>T	7.37:g.2984152G>A			2950678	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	CCDS5336.2																																																																																				0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
SDK1	221935	hgsc.bcm.edu	37	7	4088987	4088987	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:4088987C>T	ENST00000404826.2	+	18	2749	c.2610C>T	c.(2608-2610)acC>acT	p.T870T	SDK1_ENST00000389531.3_Silent_p.T870T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	870					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGTGCCCACCGCGCCCCCGC	0.572																																																	0			7											57.0	53.0	54.0					7																	4088987		2203	4300	6503	4055513	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2610C>T	7.37:g.4088987C>T			4055513	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
DNAH11	8701	hgsc.bcm.edu	37	7	21675538	21675538	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:21675538A>G	ENST00000409508.3	+	26	4581	c.4550A>G	c.(4549-4551)gAg>gGg	p.E1517G	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1522G|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1522	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTCATTGAGCAAGTGTTA	0.348									Kartagener syndrome																																								0			7											58.0	55.0	56.0					7																	21675538		1841	4087	5928	21642063	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4550A>G	7.37:g.21675538A>G	ENSP00000475939:p.Glu1517Gly		21642063	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	15.30	2.793743	0.50102	.	.	ENSG00000105877	ENST00000328843	T	0.62941	-0.01	5.56	5.56	0.83823	Dynein heavy chain, domain-2 (1);	0.277370	0.32952	N	0.005449	T	0.56920	0.2018	.	.	.	0.42527	D	0.993028	P	0.35793	0.521	B	0.35182	0.197	T	0.60742	-0.7203	9	0.51188	T	0.08	.	14.6877	0.69062	1.0:0.0:0.0:0.0	.	1522	Q96DT5	DYH11_HUMAN	G	1522	ENSP00000330671:E1522G	ENSP00000330671:E1522G	E	+	2	0	DNAH11	21642063	0.998000	0.40836	0.981000	0.43875	0.844000	0.47949	2.570000	0.45981	2.098000	0.63641	0.528000	0.53228	GAG		0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
MRPL32	64983	hgsc.bcm.edu	37	7	42972035	42972035	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:42972035G>C	ENST00000223324.2	+	1	237	c.50G>C	c.(49-51)cGg>cCg	p.R17P	PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	17				SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3). {ECO:0000305}.	translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCTGCGGCCCGGGGAGTGCTT	0.652																																																	0			7											41.0	43.0	42.0					7																	42972035		2203	4300	6503	42938560	SO:0001583	missense	64983			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.50G>C	7.37:g.42972035G>C	ENSP00000223324:p.Arg17Pro		42938560	Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995990	0.35226	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.7	1.78	0.24846	.	0.902335	0.09563	N	0.785302	T	0.32194	0.0821	L	0.48642	1.525	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.28332	-1.0047	9	0.36615	T	0.2	-2.4544	3.964	0.09423	0.1423:0.1316:0.5974:0.1287	.	17	Q9BYC8	RM32_HUMAN	P	17	.	ENSP00000223324:R17P	R	+	2	0	MRPL32	42938560	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.591000	0.23969	0.045000	0.15804	0.585000	0.79938	CGG		0.652	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903	
EGFR	1956	hgsc.bcm.edu	37	7	55268969	55268969	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:55268969A>G	ENST00000275493.2	+	25	3212	c.3035A>G	c.(3034-3036)gAt>gGt	p.D1012G	EGFR_ENST00000454757.2_Missense_Mutation_p.D959G|EGFR_ENST00000455089.1_Missense_Mutation_p.D967G|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1012					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GACGTGGTGGATGCCGACGAG	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0			7											162.0	146.0	152.0					7																	55268969		2203	4300	6503	55236463	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3035A>G	7.37:g.55268969A>G	ENSP00000275493:p.Asp1012Gly		55236463	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838817	0.91117	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.76839	-1.04;-1.05;-1.04	5.65	5.65	0.86999	Protein kinase-like domain (1);	0.042476	0.85682	D	0.000000	D	0.89529	0.6741	M	0.88241	2.94	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.988;0.995	D	0.91207	0.4996	10	0.66056	D	0.02	.	15.0093	0.71539	1.0:0.0:0.0:0.0	.	967;1012	Q504U8;P00533	.;EGFR_HUMAN	G	967;882;1012;959	ENSP00000415559:D967G;ENSP00000275493:D1012G;ENSP00000395243:D959G	ENSP00000275493:D1012G	D	+	2	0	EGFR	55236463	1.000000	0.71417	0.532000	0.27989	0.969000	0.65631	9.192000	0.94947	2.281000	0.76405	0.528000	0.53228	GAT		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
RSBN1L	222194	hgsc.bcm.edu	37	7	77408253	77408253	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:77408253A>G	ENST00000334955.8	+	8	2336	c.2309A>G	c.(2308-2310)aAt>aGt	p.N770S	RSBN1L_ENST00000445288.1_Missense_Mutation_p.N500S	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	770						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGAATGTTAATATTCCTGAA	0.308																																																	0			7											66.0	63.0	64.0					7																	77408253		1833	4082	5915	77246189	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2309A>G	7.37:g.77408253A>G	ENSP00000334040:p.Asn770Ser		77246189	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	A	3.416	-0.119113	0.06838	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	-1.03	0.10102	.	0.651240	0.15720	N	0.247966	T	0.20007	0.0481	N	0.16478	0.41	0.20403	N	0.999907	B	0.06786	0.001	B	0.04013	0.001	T	0.20874	-1.0262	9	0.16896	T	0.51	-0.0225	6.2127	0.20638	0.5177:0.2885:0.1937:0.0	.	770	Q6PCB5	RSBNL_HUMAN	S	770;500	.	ENSP00000334040:N770S	N	+	2	0	RSBN1L	77246189	0.543000	0.26434	0.074000	0.20217	0.971000	0.66376	1.206000	0.32321	-0.157000	0.11059	-0.389000	0.06534	AAT		0.308	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467	
FEZF1	389549	hgsc.bcm.edu	37	7	121943236	121943236	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:121943236T>C	ENST00000442488.2	-	2	998	c.931A>G	c.(931-933)Acg>Gcg	p.T311A	FEZF1_ENST00000427185.2_Missense_Mutation_p.T261A|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.T307A|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	311					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACACCTGCGTGTGAATGATC	0.463																																																	0			7											143.0	136.0	139.0					7																	121943236		2203	4300	6503	121730472	SO:0001583	missense	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.931A>G	7.37:g.121943236T>C	ENSP00000411145:p.Thr311Ala		121730472	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878317	0.91740	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.26518	1.73;1.73;1.73	5.23	5.23	0.72850	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.49532	-0.8930	10	0.87932	D	0	-18.979	15.4555	0.75311	0.0:0.0:0.0:1.0	.	311;261	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	A	311;307;261	ENSP00000411145:T311A;ENSP00000332777:T307A;ENSP00000392727:T261A	ENSP00000332777:T307A	T	-	1	0	FEZF1	121730472	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.953000	0.87836	2.103000	0.63969	0.529000	0.55759	ACG		0.463	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
SMO	6608	hgsc.bcm.edu	37	7	128850334	128850334	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:128850334A>G	ENST00000249373.3	+	9	1877	c.1597A>G	c.(1597-1599)Agc>Ggc	p.S533G	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	533					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CATCGCCATGAGCACCTGGGT	0.617			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0			7											126.0	109.0	115.0					7																	128850334		2203	4300	6503	128637570	SO:0001583	missense	54498			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1597A>G	7.37:g.128850334A>G	ENSP00000249373:p.Ser533Gly	1568	128637570	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.223080	0.79464	.	.	ENSG00000128602	ENST00000249373	D	0.81579	-1.51	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	L	0.31752	0.955	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.76071	0.987;0.987	T	0.81861	-0.0738	10	0.29301	T	0.29	.	15.2066	0.73183	1.0:0.0:0.0:0.0	.	533;533	A4D1K5;Q99835	.;SMO_HUMAN	G	533	ENSP00000249373:S533G	ENSP00000249373:S533G	S	+	1	0	SMO	128637570	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.031000	0.93731	2.199000	0.70637	0.418000	0.28097	AGC		0.617	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
PODXL	5420	hgsc.bcm.edu	37	7	131189266	131189266	+	Splice_Site	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:131189266T>C	ENST00000378555.3	-	9	1728	c.1481A>G	c.(1480-1482)cAg>cGg	p.Q494R	PODXL_ENST00000322985.9_Splice_Site_p.Q462R|PODXL_ENST00000541194.1_Splice_Site_p.Q496R|PODXL_ENST00000537928.1_Splice_Site_p.Q462R			O00592	PODXL_HUMAN	podocalyxin-like	494					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGTTAGCCGCTGCTAGAGTGG	0.547																																																	0			7											107.0	96.0	100.0					7																	131189266		2203	4300	6503	130839806	SO:0001630	splice_region_variant	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1480-1A>G	7.37:g.131189266T>C			130839806	A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950193	0.73787	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53143	-0.8480	10	0.87932	D	0	-26.2341	13.2059	0.59795	0.0:0.0:0.0:1.0	.	462;494	O00592-2;O00592	.;PODXL_HUMAN	R	496;462;452;494;462	ENSP00000440518:Q496R;ENSP00000442655:Q462R;ENSP00000367817:Q494R;ENSP00000319782:Q462R	ENSP00000319782:Q462R	Q	-	2	0	PODXL	130839806	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	5.901000	0.69861	2.060000	0.61445	0.454000	0.30748	CAG		0.547	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	Missense_Mutation
EPHA1	2041	hgsc.bcm.edu	37	7	143096856	143096856	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:143096856G>A	ENST00000275815.3	-	4	809	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	241	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGCACCTGAGGGCCTGGGGC	0.677																																																	0			7											28.0	29.0	29.0					7																	143096856		2203	4300	6503	142806978	SO:0001819	synonymous_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.723C>T	7.37:g.143096856G>A			142806978	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																				0.677	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
HTR5A	3361	hgsc.bcm.edu	37	7	154876013	154876013	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr7:154876013G>T	ENST00000287907.2	+	2	1466	c.890G>T	c.(889-891)tGc>tTc	p.C297F	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	297					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TTCGTGCTCTGCTGGATCCCC	0.612																																																	0			7											232.0	187.0	202.0					7																	154876013		2203	4300	6503	154506946	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.890G>T	7.37:g.154876013G>T	ENSP00000287907:p.Cys297Phe		154506946	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294084	0.81025	.	.	ENSG00000157219	ENST00000287907	T	0.52295	0.67	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86965	0.2094	10	0.87932	D	0	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	297	P47898	5HT5A_HUMAN	F	297	ENSP00000287907:C297F	ENSP00000287907:C297F	C	+	2	0	HTR5A	154506946	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	9.438000	0.97539	2.274000	0.75844	0.655000	0.94253	TGC		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
TGM3	7053	hgsc.bcm.edu	37	20	2293561	2293561	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:2293561C>T	ENST00000381458.5	+	5	621	c.558C>T	c.(556-558)ctC>ctT	p.L186L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	186					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)	AAGACATTCTCAGCATCTGCC	0.478																																																	0			20											192.0	180.0	184.0					20																	2293561		2203	4300	6503	2241561	SO:0001819	synonymous_variant	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.558C>T	20.37:g.2293561C>T			2241561	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	CCDS33435.1																																																																																				0.478	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
CD93	22918	hgsc.bcm.edu	37	20	23066171	23066171	+	Missense_Mutation	SNP	G	G	T	rs138932459		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:23066171G>T	ENST00000246006.4	-	1	806	c.659C>A	c.(658-660)gCg>gAg	p.A220E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	220			A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.A220V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACATTGGCCGCAGAGGCAAA	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)	20											78.0	79.0	79.0					20																	23066171		2203	4300	6503	23014171	SO:0001583	missense	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.659C>A	20.37:g.23066171G>T	ENSP00000246006:p.Ala220Glu		23014171	O00274	Missense_Mutation	SNP	ENST00000246006.4	37	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	3.784	-0.045138	0.07452	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.43688	0.94	5.52	-2.56	0.06268	.	2.092740	0.02000	N	0.046191	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	B	0.33135	0.399	B	0.20577	0.03	T	0.07693	-1.0759	10	0.06236	T	0.91	-1.4651	2.4339	0.04478	0.4712:0.1171:0.2978:0.1139	.	220	Q9NPY3	C1QR1_HUMAN	E	220	ENSP00000246006:A220E	ENSP00000246006:A220E	A	-	2	0	CD93	23014171	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.298000	0.19120	-0.106000	0.12110	-1.261000	0.01458	GCG		0.617	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
HCK	3055	hgsc.bcm.edu	37	20	30689235	30689235	+	Silent	SNP	G	G	A	rs144688972	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:30689235G>A	ENST00000520553.1	+	13	1677	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	HCK_ENST00000538448.1_Silent_p.P477P|HCK_ENST00000375862.2_Silent_p.P497P|HCK_ENST00000534862.1_Silent_p.P478P|HCK_ENST00000375852.2_Silent_p.P498P|HCK_ENST00000518730.1_Silent_p.P476P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AAAACCGTCCGGAGGAGCGGC	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		18525	0.0		0.001	False		,,,				2504	0.001																0			20						G	,,,,,	0,4406		0,0,2203	57.0	48.0	51.0		1431,1491,1428,1434,1431,1494	-9.8	0.1	20	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	477/506,497/526,476/505,478/507,477/506,498/527	30689235	1,13005	2203	4300	6503	30152896	SO:0001819	synonymous_variant	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1431G>A	20.37:g.30689235G>A			30152896	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	CCDS54455.1																																																																																				0.572	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
ASXL1	171023	hgsc.bcm.edu	37	20	31023473	31023473	+	Silent	SNP	C	C	T	rs200471411		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:31023473C>T	ENST00000375687.4	+	13	3382	c.2958C>T	c.(2956-2958)aaC>aaT	p.N986N	ASXL1_ENST00000306058.5_Silent_p.N981N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	986					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGAAAATCAACGGAGACTCTG	0.517			"""F, N, Mis"""		"""MDS, CMML"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		24193	0.0		0.001	False		,,,				2504	0.0							Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											87.0	71.0	76.0					20																	31023473		2203	4300	6503	30487134	SO:0001819	synonymous_variant	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2958C>T	20.37:g.31023473C>T			30487134	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
BPIFB3	359710	hgsc.bcm.edu	37	20	31652531	31652531	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:31652531C>T	ENST00000375494.3	+	8	804	c.804C>T	c.(802-804)gcC>gcT	p.A268A		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	268					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GTGCCCCAGCCAAGGTGCCCC	0.587																																																	0			20											81.0	72.0	75.0					20																	31652531		2203	4300	6503	31116192	SO:0001819	synonymous_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.804C>T	20.37:g.31652531C>T			31116192	Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
NCOA3	8202	hgsc.bcm.edu	37	20	46264690	46264690	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:46264690C>A	ENST00000371998.3	+	12	1751	c.1560C>A	c.(1558-1560)agC>agA	p.S520R	NCOA3_ENST00000341724.6_Missense_Mutation_p.S530R|NCOA3_ENST00000372004.3_Missense_Mutation_p.S520R|NCOA3_ENST00000371997.3_Missense_Mutation_p.S530R			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	520	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTTTTCCAGCAGCTCTCTCA	0.458																																																	0			20											65.0	65.0	65.0					20																	46264690		2203	4300	6503	45698097	SO:0001583	missense	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1560C>A	20.37:g.46264690C>A	ENSP00000361066:p.Ser520Arg		45698097	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461440	0.63513	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.72	0.461	0.16689	.	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.74258	2.255	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	0.996;1.0;0.996;0.997;0.999;0.997	D;D;D;D;D;D	0.91635	0.954;0.999;0.954;0.954;0.979;0.947	T	0.10894	-1.0610	10	0.72032	D	0.01	-14.7172	10.1955	0.43051	0.0:0.6738:0.0:0.3262	.	520;530;524;520;520;520	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	R	520;530;520;520;530	ENSP00000342123:S530R;ENSP00000361073:S520R;ENSP00000361066:S520R;ENSP00000361065:S530R	ENSP00000345671:S520R	S	+	3	2	NCOA3	45698097	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.283000	0.33237	0.083000	0.17047	0.655000	0.94253	AGC		0.458	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
TMEM189	387521	hgsc.bcm.edu	37	20	48741643	48741643	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:48741643G>A	ENST00000371652.4	-	6	861	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TMEM189_ENST00000371650.5_Silent_p.G252G|TMEM189_ENST00000371656.2_Silent_p.G180G|TMEM189-UBE2V1_ENST00000341698.2_Intron|TMEM189_ENST00000557021.1_Intron	NM_199129.2	NP_954580			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GAGGCTTCTCGCCCGTCAGGC	0.572																																					GBM(75;703 1202 5766 12781 15082)												0			20											84.0	71.0	76.0					20																	48741643		2203	4300	6503	48175050	SO:0001819	synonymous_variant	387521			AF155120	CCDS13428.1, CCDS54473.1	20q13.13	2007-07-30			ENSG00000240849	ENSG00000240849			16735	protein-coding gene	gene with protein product		610994				11076860	Standard	NM_199129		Approved	Kua		A5PLL7	OTTHUMG00000152625	ENST00000371652.4:c.765C>T	20.37:g.48741643G>A			48175050		Silent	SNP	ENST00000371652.4	37	CCDS13428.1																																																																																				0.572	TMEM189-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080529.1	NM_199129	
LAMA5	3911	hgsc.bcm.edu	37	20	60927304	60927304	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RP11-157P1.5_ENST00000456721.2_RNA|LAMA5_ENST00000370677.3_Silent_p.N227N|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000487421.1_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370692.3_Silent_p.N227N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	227	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ccacctctccGTTCTCCAGGG	0.692																																																	0			20											47.0	43.0	44.0					20																	60927304		2202	4293	6495	60360699	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.681C>T	20.37:g.60927304G>A			60360699	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																				0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
KCNQ2	3785	hgsc.bcm.edu	37	20	62059776	62059776	+	Silent	SNP	C	C	T	rs147453497	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr20:62059776C>T	ENST00000359125.2	-	10	1335	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	KCNQ2_ENST00000354587.3_Silent_p.P377P|KCNQ2_ENST00000344462.4_Silent_p.P387P|KCNQ2_ENST00000370224.1_Silent_p.P377P|KCNQ2_ENST00000359689.1_Silent_p.P387P|KCNQ2_ENST00000360480.3_Silent_p.P377P|KCNQ2_ENST00000357249.2_Silent_p.P387P	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	387					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTGGTTCAGCGGGGGGATAA	0.627																																																	0			20						C	,,,	1,4399		0,1,2199	31.0	29.0	30.0		1131,1161,1161,1161	-8.6	0.0	20	dbSNP_134	30	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ2	NM_004518.4,NM_172106.1,NM_172107.2,NM_172108.3	,,,	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	,,,	377/845,387/855,387/873,387/842	62059776	2,12992	2200	4297	6497	61530220	SO:0001819	synonymous_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1161G>A	20.37:g.62059776C>T			61530220	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	CCDS13520.1																																																																																				0.627	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	
XKR3	150165	hgsc.bcm.edu	37	22	17265234	17265234	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr22:17265234T>C	ENST00000331428.5	-	4	757	c.655A>G	c.(655-657)Atc>Gtc	p.I219V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGATCTGGATGGCCAGTATA	0.403																																																	0			22											16.0	16.0	16.0					22																	17265234		1465	3478	4943	15645234	SO:0001583	missense	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.655A>G	22.37:g.17265234T>C	ENSP00000331704:p.Ile219Val		15645234	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.699176	0.48307	.	.	ENSG00000172967	ENST00000331428	T	0.62788	-0.0	0.771	0.771	0.18504	.	0.132226	0.47455	U	0.000232	T	0.43590	0.1254	L	0.46157	1.445	0.33829	D	0.630067	P	0.39551	0.678	B	0.34824	0.19	T	0.48958	-0.8988	10	0.16420	T	0.52	.	5.862	0.18754	0.0:0.0:0.0:1.0	.	219	Q5GH77	XKR3_HUMAN	V	219	ENSP00000331704:I219V	ENSP00000331704:I219V	I	-	1	0	XKR3	15645234	1.000000	0.71417	0.841000	0.33234	0.121000	0.20230	5.073000	0.64395	0.630000	0.30394	0.246000	0.17985	ATC		0.403	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
CCDC157	550631	hgsc.bcm.edu	37	22	30772726	30772726	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr22:30772726C>T	ENST00000405659.1	+	12	2960	c.2251C>T	c.(2251-2253)Ccc>Tcc	p.P751S	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.P751S			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	751										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCAGGAGCGGCCCATGTAGCC	0.632																																																	0			22											15.0	16.0	15.0					22																	30772726		2143	4227	6370	29102726	SO:0001583	missense	550631			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.2251C>T	22.37:g.30772726C>T	ENSP00000385357:p.Pro751Ser		29102726	Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046728	0.75846	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.37411	1.2;1.2	4.57	3.47	0.39725	.	0.089550	0.42420	D	0.000720	T	0.33469	0.0864	L	0.29908	0.895	0.80722	D	1	P	0.50156	0.932	P	0.50352	0.638	T	0.08764	-1.0706	10	0.87932	D	0	-21.4883	9.3481	0.38120	0.2134:0.7866:0.0:0.0	.	751	Q569K6	CC157_HUMAN	S	751	ENSP00000385357:P751S;ENSP00000343087:P751S	ENSP00000343087:P751S	P	+	1	0	CCDC157	29102726	0.012000	0.17670	0.700000	0.30305	0.809000	0.45718	0.886000	0.28241	2.527000	0.85204	0.555000	0.69702	CCC		0.632	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437	
GRAP2	9402	hgsc.bcm.edu	37	22	40367005	40367005	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr22:40367005T>C	ENST00000344138.4	+	8	1173	c.910T>C	c.(910-912)Tcc>Ccc	p.S304P	GRAP2_ENST00000407075.3_Missense_Mutation_p.S304P|GRAP2_ENST00000540310.1_Missense_Mutation_p.S238P|GRAP2_ENST00000399090.2_Missense_Mutation_p.S191P|GRAP2_ENST00000543252.1_Missense_Mutation_p.S252P|GRAP2_ENST00000544756.1_Missense_Mutation_p.S232P	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	304	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.S304P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGGATAGCTCCAACCCATC	0.632																																																	1	Substitution - Missense(1)	central_nervous_system(1)	22											80.0	70.0	73.0					22																	40367005		2203	4300	6503	38696951	SO:0001583	missense	9402			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.910T>C	22.37:g.40367005T>C	ENSP00000339186:p.Ser304Pro		38696951	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036069	0.75617	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.53640	0.61;1.51;0.61;0.61;0.61;0.61	5.45	3.26	0.37387	Src homology-3 domain (4);	0.454387	0.27876	N	0.017489	T	0.50871	0.1641	L	0.41027	1.25	0.53688	D	0.999976	P;D;B;B;P	0.55385	0.918;0.971;0.182;0.239;0.928	P;P;B;B;P	0.56434	0.698;0.798;0.267;0.122;0.798	T	0.43048	-0.9415	10	0.49607	T	0.09	-25.2361	10.6026	0.45375	0.2571:0.0:0.0:0.7429	.	191;304;238;278;304	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	P	304;252;278;238;232;191;304	ENSP00000339186:S304P;ENSP00000446350:S252P;ENSP00000444734:S238P;ENSP00000442195:S232P;ENSP00000382040:S191P;ENSP00000385607:S304P	ENSP00000339186:S304P	S	+	1	0	GRAP2	38696951	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.397000	0.52572	0.319000	0.23209	0.455000	0.32223	TCC		0.632	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
EP300	2033	hgsc.bcm.edu	37	22	41573425	41573425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr22:41573425C>T	ENST00000263253.7	+	31	6929	c.5710C>T	c.(5710-5712)Cag>Tag	p.Q1904*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1904					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCAGCAGGCCAGGTGACCCC	0.627			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											76.0	69.0	71.0					22																	41573425		2203	4300	6503	39903371	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5710C>T	22.37:g.41573425C>T	ENSP00000263253:p.Gln1904*		39903371	B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.991127	0.99926	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.47	5.47	0.80525	.	0.000000	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-5.8439	19.3276	0.94268	0.0:1.0:0.0:0.0	.	.	.	.	X	1904	.	ENSP00000263253:Q1904X	Q	+	1	0	EP300	39903371	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.831000	0.55776	2.573000	0.86826	0.561000	0.74099	CAG		0.627	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
MYH7	4625	hgsc.bcm.edu	37	14	23898994	23898994	+	Silent	SNP	G	G	A	rs2231126	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:23898994G>A	ENST00000355349.3	-	12	1290	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	376	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCAGTGCCGTCTGGCTCCG	0.517													g|||	782	0.15615	0.4206	0.0764	5008	,	,		18741	0.0198		0.0785	False		,,,				2504	0.0757																0			14								1653,2753	506.6+/-366.4	311,1031,861	77.0	72.0	74.0		1128	-4.2	0.9	14	dbSNP_98	74	746,7854	178.2+/-227.6	35,676,3589	no	coding-synonymous	MYH7	NM_000257.2		346,1707,4450	AA,AG,GG		8.6744,37.517,18.4453		376/1936	23898994	2399,10607	2203	4300	6503	22968834	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1128C>T	14.37:g.23898994G>A			22968834	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.517	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
DHRS4L2	317749	hgsc.bcm.edu	37	14	24459529	24459529	+	Silent	SNP	T	T	C	rs563512511		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:24459529T>C	ENST00000335125.6	+	2	393	c.267T>C	c.(265-267)caT>caC	p.H89H	DHRS4L2_ENST00000558753.1_Silent_p.H89H|DHRS4L2_ENST00000545240.1_Silent_p.H89H|DHRS4L2_ENST00000382755.4_Silent_p.H87H|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.H89H|DHRS4L2_ENST00000537912.1_Silent_p.H89H|DHRS4L2_ENST00000543805.1_5'UTR	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	87						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.H89Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CTGTGTGCCATGTGGGGAAGG	0.677													t|||	1	0.000199681	0.0	0.0	5008	,	,		14991	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	ovary(1)	14											33.0	37.0	36.0					14																	24459529		2200	4298	6498	23529369	SO:0001819	synonymous_variant	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.267T>C	14.37:g.24459529T>C			23529369	Q3YLD4	Silent	SNP	ENST00000335125.6	37	CCDS9606.2																																																																																				0.677	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4		
NOVA1	4857	hgsc.bcm.edu	37	14	26917280	26917280	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:26917280C>T	ENST00000539517.2	-	5	1726	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	NOVA1_ENST00000267422.7_Missense_Mutation_p.R348Q|NOVA1_ENST00000465357.2_Missense_Mutation_p.R446Q	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	473	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGTTACCTTCCGATTCCTTGT	0.453																																																	0			14											163.0	135.0	145.0					14																	26917280		2203	4300	6503	25987120	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1409G>A	14.37:g.26917280C>T	ENSP00000438875:p.Arg470Gln		25987120	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340276	0.60963	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.35236	1.32;1.32;1.32	6.04	5.11	0.69529	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000005	T	0.70579	0.3240	H	0.94964	3.605	0.58432	D	0.999995	P;D;D	0.89917	0.687;1.0;1.0	B;D;D	0.97110	0.282;1.0;1.0	T	0.78755	-0.2080	10	0.87932	D	0	-2.001	16.1653	0.81750	0.1339:0.8661:0.0:0.0	.	473;446;470	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	Q	446;470;348	ENSP00000447391:R446Q;ENSP00000438875:R470Q;ENSP00000267422:R348Q	ENSP00000267422:R348Q	R	-	2	0	NOVA1	25987120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.995000	0.70631	2.873000	0.98535	0.563000	0.77884	CGG		0.453	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
CDKL1	8814	hgsc.bcm.edu	37	14	50807788	50807788	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:50807788G>A	ENST00000216378.2	-	6	1264	c.620C>T	c.(619-621)tCg>tTg	p.S207L	CDKL1_ENST00000395834.1_Missense_Mutation_p.S207L|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ATCCACATCCGATTTTCCTGG	0.547																																																	0			14											107.0	94.0	98.0					14																	50807788		2203	4300	6503	49877538	SO:0001583	missense	8814			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.620C>T	14.37:g.50807788G>A	ENSP00000216378:p.Ser207Leu		49877538	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37		.	.	.	.	.	.	.	.	.	.	G	28.2	4.896047	0.91962	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.50813	0.73;0.73	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.69602	0.3129	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.72633	-0.4234	9	0.87932	D	0	.	19.1942	0.93681	0.0:0.0:1.0:0.0	.	878;206	Q00532-2;Q00532	.;CDKL1_HUMAN	L	207	ENSP00000379176:S207L;ENSP00000216378:S207L	ENSP00000216378:S207L	S	-	2	0	CDKL1	49877538	1.000000	0.71417	0.985000	0.45067	0.632000	0.37999	9.720000	0.98763	2.708000	0.92522	0.655000	0.94253	TCG		0.547	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1		
DPF3	8110	hgsc.bcm.edu	37	14	73181173	73181173	+	Missense_Mutation	SNP	C	C	T	rs61742824	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:73181173C>T	ENST00000556509.1	-	6	561	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	DPF3_ENST00000541685.1_Missense_Mutation_p.A188T|DPF3_ENST00000546183.1_Missense_Mutation_p.A198T|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	188					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAGAGGCGGCGTCGTGCCTC	0.627													C|||	101	0.0201677	0.0741	0.0029	5008	,	,		18051	0.0		0.001	False		,,,				2504	0.0																0			14						C	THR/ALA	261,3911		10,241,1835	79.0	92.0	88.0		562	1.8	0.2	14	dbSNP_129	88	2,8424		0,2,4211	yes	missense	DPF3	NM_012074.3	58	10,243,6046	TT,TC,CC		0.0237,6.256,2.0876	benign	188/358	73181173	263,12335	2086	4213	6299	72250926	SO:0001583	missense	8110			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.562G>A	14.37:g.73181173C>T	ENSP00000450518:p.Ala188Thr		72250926	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		27	0.012362637362637362	26	0.052845528455284556	1	0.0027624309392265192	0	0.0	0	0.0	C	13.94	2.385909	0.42308	0.06256	2.37E-4	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90563	-2.69;-0.15;-0.16	4.9	1.8	0.24995	.	.	.	.	.	T	0.40522	0.1120	L	0.31752	0.955	0.33049	D	0.532449	B;B;B	0.24317	0.101;0.066;0.0	B;B;B	0.20384	0.029;0.013;0.0	T	0.65063	-0.6259	9	0.21540	T	0.41	.	8.509	0.33206	0.0:0.5953:0.3235:0.0813	.	198;188;188	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	188;187;188;198	ENSP00000450518:A188T;ENSP00000441640:A188T;ENSP00000444662:A198T	ENSP00000381791:A243T	A	-	1	0	DPF3	72250926	0.998000	0.40836	0.240000	0.24138	0.976000	0.68499	2.465000	0.45075	0.555000	0.29079	0.561000	0.74099	GCC		0.627	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		
GOLGA5	9950	hgsc.bcm.edu	37	14	93303792	93303792	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:93303792A>G	ENST00000163416.2	+	12	2369	c.2113A>G	c.(2113-2115)Atg>Gtg	p.M705V	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	705					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AATTATATATATGGTAAGTAA	0.343			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0			14											75.0	86.0	83.0					14																	93303792		2203	4300	6503	92373545	SO:0001583	missense	440270			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.2113A>G	14.37:g.93303792A>G	ENSP00000163416:p.Met705Val		92373545	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196276	0.78902	.	.	ENSG00000066455	ENST00000163416;ENST00000439315	T	0.38401	1.14	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000021	T	0.44222	0.1283	L	0.39397	1.21	0.80722	D	1	D	0.60160	0.987	P	0.55112	0.769	T	0.31447	-0.9943	10	0.45353	T	0.12	-21.6805	14.6183	0.68565	1.0:0.0:0.0:0.0	.	705	Q8TBA6	GOGA5_HUMAN	V	705;614	ENSP00000163416:M705V	ENSP00000163416:M705V	M	+	1	0	GOLGA5	92373545	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.568000	0.90741	2.032000	0.59987	0.528000	0.53228	ATG		0.343	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
IFI27	3429	hgsc.bcm.edu	37	14	94582135	94582135	+	Missense_Mutation	SNP	G	G	A	rs200845428		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr14:94582135G>A	ENST00000555744.1	+	4	318	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	IFI27_ENST00000298902.5_Missense_Mutation_p.V44M|IFI27_ENST00000448882.1_Missense_Mutation_p.V47M|IFI27_ENST00000444961.1_Missense_Mutation_p.V47M|IFI27_ENST00000557634.1_Missense_Mutation_p.V34M|IFI27_ENST00000557098.1_5'UTR			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	44					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		AGTTGTGGCTGTGCCCATGGT	0.642																																					GBM(128;797 1667 20895 29868 47129)												0			14											14.0	13.0	14.0					14																	94582135		2189	4282	6471	93651888	SO:0001583	missense	3429			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.130G>A	14.37:g.94582135G>A	ENSP00000451956:p.Val44Met		93651888	Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	ENST00000555744.1	37	CCDS32148.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513727	0.27123	.	.	ENSG00000165949	ENST00000554448;ENST00000444961;ENST00000448882;ENST00000554800;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29	3.38	2.49	0.30216	.	0.202210	0.41712	D	0.000826	T	0.47284	0.1437	M	0.87827	2.91	0.09310	N	1	P	0.47034	0.889	P	0.48552	0.581	T	0.44636	-0.9315	10	0.66056	D	0.02	.	6.6799	0.23115	0.131:0.0:0.869:0.0	.	44	P40305	IFI27_HUMAN	M	44;47;47;44;44;44;34;44	ENSP00000451370:V44M;ENSP00000413536:V47M;ENSP00000410901:V47M;ENSP00000451875:V44M;ENSP00000298902:V44M;ENSP00000452560:V34M;ENSP00000451956:V44M	ENSP00000298902:V44M	V	+	1	0	IFI27	93651888	0.095000	0.21747	0.009000	0.14445	0.015000	0.08874	2.609000	0.46317	0.996000	0.38943	-0.379000	0.06801	GTG		0.642	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
DAPK3	1613	hgsc.bcm.edu	37	19	3964314	3964314	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr19:3964314C>T	ENST00000545797.2	-	4	724	c.481G>A	c.(481-483)Gac>Aac	p.D161N	DAPK3_ENST00000301264.3_Missense_Mutation_p.D161N|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	161	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in an ovarian mucinous carcinoma sample; somatic mutation; greatly reduces kinase acivity, increases cell proliferation and cell survival). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:21487036}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.D161N(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCCGAAGTCGATGAGCTTG	0.627																																																	1	Substitution - Missense(1)	ovary(1)	19											223.0	133.0	163.0					19																	3964314		2203	4300	6503	3915314	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.481G>A	19.37:g.3964314C>T	ENSP00000442973:p.Asp161Asn		3915314	A0AVN4|B3KQE2|Q05JY4	Missense_Mutation	SNP	ENST00000545797.2	37	CCDS12116.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332717	0.95733	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	D;D	0.92965	-3.14;-3.14	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98444	1.0588	10	0.87932	D	0	.	18.3495	0.90333	0.0:1.0:0.0:0.0	.	161	O43293	DAPK3_HUMAN	N	161;161;16	ENSP00000301264:D161N;ENSP00000442973:D161N	ENSP00000301264:D161N	D	-	1	0	DAPK3	3915314	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	7.584000	0.82572	2.581000	0.87130	0.561000	0.74099	GAC		0.627	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348	
FSD1	79187	hgsc.bcm.edu	37	19	4307965	4307965	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr19:4307965C>T	ENST00000221856.6	+	4	477	c.330C>T	c.(328-330)agC>agT	p.S110S	FSD1_ENST00000597590.1_Silent_p.S110S|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	110	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATGGACAGCGAGGACTTTC	0.562																																																	0			19											55.0	47.0	50.0					19																	4307965		2203	4300	6503	4258965	SO:0001819	synonymous_variant	79187			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.330C>T	19.37:g.4307965C>T			4258965	B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	CCDS12127.1																																																																																				0.562	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	
DNASE2	1777	hgsc.bcm.edu	37	19	12984570	12984570	+	IGR	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr19:12984570G>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Missense_Mutation_p.G1200D	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AAGTCGGCCGGCAACATCCCT	0.692																																																	0			19											34.0	36.0	35.0					19																	12984570		2203	4297	6500	12845570	SO:0001628	intergenic_variant	23332			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984570G>A			12845570	B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.186387	0.78789	.	.	ENSG00000105613	ENST00000251472	T	0.41758	0.99	4.69	4.69	0.59074	.	0.070116	0.56097	D	0.000027	T	0.62527	0.2435	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64947	-0.6287	10	0.54805	T	0.06	-31.9496	15.4844	0.75555	0.0:0.0:1.0:0.0	.	1200	Q9Y2H9	MAST1_HUMAN	D	1200	ENSP00000251472:G1200D	ENSP00000251472:G1200D	G	+	2	0	MAST1	12845570	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	9.652000	0.98499	2.320000	0.78422	0.552000	0.68991	GGC		0.692	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1		
ZNF536	9745	hgsc.bcm.edu	37	19	31040254	31040254	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr19:31040254A>T	ENST00000355537.3	+	4	3875	c.3728A>T	c.(3727-3729)gAc>gTc	p.D1243V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1243					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAGCCCAGGACCCCTTGGCG	0.642																																																	0			19											21.0	22.0	22.0					19																	31040254		2202	4297	6499	35732094	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3728A>T	19.37:g.31040254A>T	ENSP00000347730:p.Asp1243Val		35732094	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946818	0.18356	.	.	ENSG00000198597	ENST00000355537	T	0.10192	2.9	5.18	5.18	0.71444	.	0.393945	0.30383	N	0.009758	T	0.09024	0.0223	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.27559	0.001;0.181	B;B	0.24974	0.001;0.057	T	0.14309	-1.0477	10	0.72032	D	0.01	-26.5127	15.0402	0.71785	1.0:0.0:0.0:0.0	.	1243;1243	A7E228;O15090	.;ZN536_HUMAN	V	1243	ENSP00000347730:D1243V	ENSP00000347730:D1243V	D	+	2	0	ZNF536	35732094	1.000000	0.71417	0.993000	0.49108	0.477000	0.33069	3.508000	0.53378	1.944000	0.56390	0.528000	0.53228	GAC		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
NOVA2	4858	hgsc.bcm.edu	37	19	46443951	46443951	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr19:46443951C>T	ENST00000263257.5	-	4	843	c.649G>A	c.(649-651)Gtg>Atg	p.V217M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	217					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGCCTGCCACGTTGGCGTAG	0.706																																																	0			19											53.0	29.0	37.0					19																	46443951		2161	4226	6387	51135791	SO:0001583	missense	4858			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.649G>A	19.37:g.46443951C>T	ENSP00000263257:p.Val217Met		51135791	O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	CCDS12679.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237545	0.39598	.	.	ENSG00000104967	ENST00000263257	T	0.50277	0.75	3.15	3.15	0.36227	.	0.253661	0.32736	N	0.005715	T	0.33265	0.0857	L	0.46157	1.445	0.33894	D	0.637687	P	0.50443	0.935	B	0.36534	0.227	T	0.53229	-0.8468	10	0.51188	T	0.08	-13.6904	7.4493	0.27229	0.2581:0.7419:0.0:0.0	.	217	Q9UNW9	NOVA2_HUMAN	M	217	ENSP00000263257:V217M	ENSP00000263257:V217M	V	-	1	0	NOVA2	51135791	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	0.843000	0.27640	1.608000	0.50180	0.484000	0.47621	GTG		0.706	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516	
DCAF4L2	138009	hgsc.bcm.edu	37	8	88885717	88885717	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:88885717C>T	ENST00000319675.3	-	1	579	c.483G>A	c.(481-483)gcG>gcA	p.A161A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	161								p.A161A(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAACAGCGACGCTGGGAGCA	0.567																																																	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	8											101.0	94.0	96.0					8																	88885717		2203	4300	6503	88954833	SO:0001819	synonymous_variant	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.483G>A	8.37:g.88885717C>T			88954833		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
DCAF4L2	138009	hgsc.bcm.edu	37	8	88885751	88885751	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:88885751G>A	ENST00000319675.3	-	1	545	c.449C>T	c.(448-450)gCa>gTa	p.A150V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	150										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGAGTATCTGCAAGTCCCAC	0.542																																																	0			8											95.0	89.0	91.0					8																	88885751		2203	4300	6503	88954867	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.449C>T	8.37:g.88885751G>A	ENSP00000316496:p.Ala150Val		88954867		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659387	0.29515	.	.	ENSG00000176566	ENST00000319675	T	0.70631	-0.5	1.68	0.726	0.18248	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098022	0.64402	D	0.000001	T	0.68155	0.2970	M	0.63843	1.955	0.33247	D	0.557971	P	0.41498	0.752	P	0.48770	0.589	T	0.72121	-0.4386	10	0.66056	D	0.02	.	3.4871	0.07624	0.2692:0.0:0.7308:0.0	.	150	Q8NA75	DC4L2_HUMAN	V	150	ENSP00000316496:A150V	ENSP00000316496:A150V	A	-	2	0	DCAF4L2	88954867	1.000000	0.71417	0.018000	0.16275	0.030000	0.12068	3.432000	0.52824	0.922000	0.37019	0.467000	0.42956	GCA		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
NUDCD1	84955	hgsc.bcm.edu	37	8	110293376	110293376	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:110293376A>G	ENST00000239690.4	-	6	1223	c.849T>C	c.(847-849)acT>acC	p.T283T	NUDCD1_ENST00000427660.2_Silent_p.T254T	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AATCATCTTCAGTCTGTTGCC	0.358																																																	0			8											111.0	100.0	104.0					8																	110293376		2203	4300	6503	110362552	SO:0001819	synonymous_variant	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.849T>C	8.37:g.110293376A>G			110362552		Silent	SNP	ENST00000239690.4	37	CCDS6312.1																																																																																				0.358	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
KCNQ3	3786	hgsc.bcm.edu	37	8	133187813	133187813	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:133187813G>A	ENST00000388996.4	-	5	1240	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L154F|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L274F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	274					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AATGAAGAAAGGATGAGTGTC	0.488																																																	0			8											114.0	110.0	111.0					8																	133187813		2203	4300	6503	133256995	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.820C>T	8.37:g.133187813G>A	ENSP00000373648:p.Leu274Phe		133256995	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765315	0.31228	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97279	-4.32;-4.32;-4.32	5.39	3.61	0.41365	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93697	0.7986	N	0.17674	0.51	0.46437	D	0.999049	D;D	0.52996	0.957;0.957	P;P	0.53490	0.727;0.727	D	0.90538	0.4500	10	0.02654	T	1	-15.3411	10.4712	0.44638	0.2194:0.0:0.7806:0.0	.	274;274	E7ET42;O43525	.;KCNQ3_HUMAN	F	274;154;274;263;153	ENSP00000373648:L274F;ENSP00000429799:L154F;ENSP00000428790:L274F	ENSP00000373648:L274F	L	-	1	0	KCNQ3	133256995	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	4.198000	0.58419	0.762000	0.33152	-0.140000	0.14226	CTT		0.488	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
KCNK9	51305	hgsc.bcm.edu	37	8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:140630763G>A	ENST00000520439.1	-	2	926	c.863C>T	c.(862-864)gCg>gTg	p.A288V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A288V(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGGACGTCCGCCTTGTACCT	0.667																																																	1	Substitution - Missense(1)	ovary(1)	8											48.0	53.0	51.0					8																	140630763		2203	4300	6503	140699945	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.863C>T	8.37:g.140630763G>A	ENSP00000430676:p.Ala288Val		140699945	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676779	0.47886	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.17528	2.27;2.27;2.27	5.53	3.67	0.42095	.	1.078660	0.07116	N	0.843000	T	0.22282	0.0537	M	0.63843	1.955	0.26385	N	0.976664	B	0.26876	0.162	B	0.25759	0.063	T	0.42258	-0.9462	10	0.15066	T	0.55	.	14.9469	0.71039	0.0:0.2816:0.7184:0.0	.	288	Q9NPC2	KCNK9_HUMAN	V	288	ENSP00000429847:A288V;ENSP00000302166:A288V;ENSP00000430676:A288V	ENSP00000302166:A288V	A	-	2	0	KCNK9	140699945	0.997000	0.39634	0.905000	0.35620	0.886000	0.51366	3.277000	0.51654	0.624000	0.30286	0.591000	0.81541	GCG		0.667	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
ARID1A	8289	hgsc.bcm.edu	37	1	27056344	27056344	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:27056344A>G	ENST00000324856.7	+	2	1711	c.1340A>G	c.(1339-1341)tAt>tGt	p.Y447C	ARID1A_ENST00000457599.2_Missense_Mutation_p.Y447C|ARID1A_ENST00000374152.2_Missense_Mutation_p.Y64C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	447					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCTCTCTTATACACAGCAG	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1											34.0	38.0	36.0					1																	27056344		2203	4300	6503	26928931	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1340A>G	1.37:g.27056344A>G	ENSP00000320485:p.Tyr447Cys		26928931	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431272	0.43122	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	T;T;T;T	0.65364	2.76;2.37;-0.15;2.84	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	T	0.70096	-0.4966	10	0.39692	T	0.17	-4.8274	16.4127	0.83723	1.0:0.0:0.0:0.0	.	447;447;101	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	C	447;447;64;64	ENSP00000320485:Y447C;ENSP00000387636:Y447C;ENSP00000432473:Y64C;ENSP00000363267:Y64C	ENSP00000320485:Y447C	Y	+	2	0	ARID1A	26928931	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.631000	0.90991	2.279000	0.76181	0.528000	0.53228	TAT		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
ARID1A	8289	hgsc.bcm.edu	37	1	27059168	27059168	+	Splice_Site	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:27059168A>G	ENST00000324856.7	+	4	2176	c.1805A>G	c.(1804-1806)gAg>gGg	p.E602G	ARID1A_ENST00000457599.2_Splice_Site_p.E602G|ARID1A_ENST00000374152.2_Splice_Site_p.E219G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	602					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGTTGTAGGAGCTATCTCAA	0.468			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1											128.0	110.0	116.0					1																	27059168		2203	4300	6503	26931755	SO:0001630	splice_region_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1804-1A>G	1.37:g.27059168A>G			26931755	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494532	0.64186	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03272	4.15;3.99;4.06	5.7	5.7	0.88788	.	0.113436	0.64402	D	0.000018	T	0.12475	0.0303	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.986;0.994;0.986	T	0.34229	-0.9837	10	0.14252	T	0.57	-14.2407	15.9492	0.79820	1.0:0.0:0.0:0.0	.	602;602;256	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	G	602;602;219	ENSP00000320485:E602G;ENSP00000387636:E602G;ENSP00000363267:E219G	ENSP00000320485:E602G	E	+	2	0	ARID1A	26931755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.251000	0.89838	2.182000	0.69389	0.402000	0.26972	GAG		0.468	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Missense_Mutation
ARID1A	8289	hgsc.bcm.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:27099905C>T	ENST00000324856.7	+	15	4155	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262C|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1											64.0	61.0	62.0					1																	27099905		2203	4300	6503	26972492	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3784C>T	1.37:g.27099905C>T	ENSP00000320485:p.Arg1262Cys		26972492	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.00|15.00	2.702186|2.702186	0.48307|0.48307	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|T	0.03441|0.03553	4.07;3.96;3.93|3.89	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.12178|0.12178	0.0296|0.0296	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	P;P;P;P|.	0.60682|.	0.804;0.759;0.878;0.759|.	T|T	0.00303|0.00303	-1.1833|-1.1833	10|7	0.56958|0.87932	D|D	0.05|0	-0.9968|-0.9968	18.5413|18.5413	0.91029|0.91029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;1262;1262;915|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	C|L	1262;1262;879|158	ENSP00000320485:R1262C;ENSP00000387636:R1262C;ENSP00000363267:R879C|ENSP00000390317:S158L	ENSP00000320485:R1262C|ENSP00000390317:S158L	R|S	+|+	1|2	0|0	ARID1A|ARID1A	26972492|26972492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.352000|4.352000	0.59404|0.59404	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
TEKT2	27285	hgsc.bcm.edu	37	1	36553586	36553586	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:36553586C>T	ENST00000207457.3	+	10	1219	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	364					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGCACTGGACGCCCTGTGCA	0.637																																																	0			1											38.0	29.0	32.0					1																	36553586		2203	4300	6503	36326173	SO:0001819	synonymous_variant	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1092C>T	1.37:g.36553586C>T			36326173	A6NIS6|O60638	Silent	SNP	ENST00000207457.3	37	CCDS401.1																																																																																				0.637	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466	
PRPF38A	84950	hgsc.bcm.edu	37	1	52876804	52876804	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:52876804G>A	ENST00000257181.9	+	4	616	c.430G>A	c.(430-432)Gtt>Att	p.V144I	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	144					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						ATTGATGCATGTTGATGAGTT	0.358																																																	0			1											140.0	128.0	132.0					1																	52876804		2203	4300	6503	52649392	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.430G>A	1.37:g.52876804G>A	ENSP00000257181:p.Val144Ile		52649392	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	CCDS567.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621127	0.66787	.	.	ENSG00000134748	ENST00000257181	.	.	.	4.57	4.57	0.56435	.	0.055210	0.64402	D	0.000001	T	0.32010	0.0815	N	0.10945	0.07	0.80722	D	1	B	0.33583	0.418	B	0.32393	0.145	T	0.17837	-1.0356	9	0.08381	T	0.77	-11.342	17.5428	0.87853	0.0:0.0:1.0:0.0	.	144	Q8NAV1	PR38A_HUMAN	I	144	.	ENSP00000257181:V144I	V	+	1	0	PRPF38A	52649392	1.000000	0.71417	0.987000	0.45799	0.904000	0.53231	7.684000	0.84104	2.380000	0.81148	0.563000	0.77884	GTT		0.358	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864	
LRRC40	55631	hgsc.bcm.edu	37	1	70650578	70650578	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:70650578G>A	ENST00000370952.3	-	4	506	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	143						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCTTCAGGGAGTATTTTCAGT	0.303																																																	0			1											141.0	142.0	142.0					1																	70650578		2202	4300	6502	70423166	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.427C>T	1.37:g.70650578G>A	ENSP00000359990:p.Leu143Phe		70423166	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.051028	0.36181	.	.	ENSG00000066557	ENST00000370952	T	0.70045	-0.45	5.98	5.07	0.68467	.	0.120183	0.56097	N	0.000024	T	0.70937	0.3281	M	0.75777	2.31	0.41135	D	0.985913	D	0.76494	0.999	D	0.71414	0.973	T	0.74453	-0.3660	10	0.46703	T	0.11	.	7.8188	0.29276	0.1398:0.0:0.7267:0.1335	.	143	Q9H9A6	LRC40_HUMAN	F	143	ENSP00000359990:L143F	ENSP00000359990:L143F	L	-	1	0	LRRC40	70423166	0.848000	0.29623	0.961000	0.40146	0.241000	0.25554	1.141000	0.31528	1.554000	0.49487	-0.122000	0.15005	CTC		0.303	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
LPHN2	23266	hgsc.bcm.edu	37	1	82456643	82456643	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:82456643G>C	ENST00000370728.1	+	25	4839	c.4194G>C	c.(4192-4194)agG>agC	p.R1398S	LPHN2_ENST00000370717.2_Missense_Mutation_p.R1413S|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1342S|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1323S|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1342S|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1370S|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1413S|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1355S|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1400S|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1355S|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1370S|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1400S|LPHN2_ENST00000469377.2_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1398					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCCCTCCAGGAGGAGTGAGA	0.498																																																	0			1											73.0	69.0	71.0					1																	82456643		2203	4300	6503	82229231	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4194G>C	1.37:g.82456643G>C	ENSP00000359763:p.Arg1398Ser		82229231	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	4.128|4.128|4.128	0.021945|0.021945|0.021945	0.08006|0.08006|0.08006	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.|T;T;T;T;T;T;T;T;T;T;T;T	.|.|0.67523	.|.|-0.24;-0.27;-0.26;-0.2;-0.2;-0.16;-0.22;-0.22;-0.2;-0.16;-0.2;-0.26	5.15|5.15|5.15	3.29|3.29|3.29	0.37713|0.37713|0.37713	.|.|.	.|.|0.207171	.|.|0.39615	.|.|N	.|.|0.001305	T|T|T	0.32556|0.32556|0.32556	0.0833|0.0833|0.0833	L|L|L	0.29908|0.29908|0.29908	0.895|0.895|0.895	0.37169|0.37169|0.37169	D|D|D	0.902975|0.902975|0.902975	.|.|B;B	.|.|0.33000	.|.|0.171;0.393	.|.|B;B	.|.|0.28916	.|.|0.062;0.096	T|T|T	0.13229|0.13229|0.13229	-1.0517|-1.0517|-1.0517	5|5|10	.|.|0.42905	.|.|T	.|.|0.14	.|.|.	8.5952|8.5952|8.5952	0.33712|0.33712|0.33712	0.2315:0.0:0.7685:0.0|0.2315:0.0:0.7685:0.0|0.2315:0.0:0.7685:0.0	.|.|.	.|.|1342;322	.|.|O95490-2;B3KVU1	.|.|.;.	Q|A|S	410|1290|1323;1398;1355;1370;1413;1400;1342;1342;1413;1400;1370;1355	.|.|ENSP00000359756:R1323S;ENSP00000359763:R1398S;ENSP00000359765:R1355S;ENSP00000359762:R1370S;ENSP00000359760:R1413S;ENSP00000359758:R1400S;ENSP00000353006:R1342S;ENSP00000322270:R1342S;ENSP00000359752:R1413S;ENSP00000378344:R1400S;ENSP00000271029:R1370S;ENSP00000337306:R1355S	.|.|ENSP00000271029:R1370S	E|G|R	+|+|+	1|2|3	0|0|2	LPHN2|LPHN2|LPHN2	82229231|82229231|82229231	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.639000|1.639000|1.639000	0.37176|0.37176|0.37176	0.584000|0.584000|0.584000	0.29591|0.29591|0.29591	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|GGA|AGG		0.498	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
MCOLN2	255231	hgsc.bcm.edu	37	1	85397191	85397191	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:85397191A>G	ENST00000370608.3	-	12	1463	c.1396T>C	c.(1396-1398)Ttt>Ctt	p.F466L	MCOLN2_ENST00000284027.5_Missense_Mutation_p.F438L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	466					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAGGTTGCAAACATGTCATCA	0.383																																																	0			1											72.0	75.0	74.0					1																	85397191		2203	4300	6503	85169779	SO:0001583	missense	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1396T>C	1.37:g.85397191A>G	ENSP00000359640:p.Phe466Leu		85169779	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.852208	0.91355	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.74315	-0.83;-0.83	4.93	4.93	0.64822	Polycystin cation channel, PKD1/PKD2 (1);	0.048293	0.85682	D	0.000000	T	0.71736	0.3375	M	0.80982	2.52	0.80722	D	1	P	0.45715	0.865	P	0.45753	0.492	T	0.74191	-0.3745	10	0.35671	T	0.21	-49.2802	14.9003	0.70672	1.0:0.0:0.0:0.0	.	466	Q8IZK6	MCLN2_HUMAN	L	466;438	ENSP00000359640:F466L;ENSP00000284027:F438L	ENSP00000284027:F438L	F	-	1	0	MCOLN2	85169779	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.993000	0.58246	0.528000	0.53228	TTT		0.383	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259	
SORT1	6272	hgsc.bcm.edu	37	1	109897121	109897121	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:109897121A>T	ENST00000256637.6	-	5	634	c.576T>A	c.(574-576)agT>agA	p.S192R	SORT1_ENST00000538502.1_Missense_Mutation_p.S56R|SORT1_ENST00000482236.1_5'UTR	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	192					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCCTCCACGACTTCCTCCAG	0.428																																																	0			1											142.0	133.0	136.0					1																	109897121		2203	4300	6503	109698644	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.576T>A	1.37:g.109897121A>T	ENSP00000256637:p.Ser192Arg		109698644	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876317	0.51801	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.22743	1.94;1.94	5.11	-2.43	0.06522	VPS10 (1);	0.256528	0.46758	D	0.000272	T	0.04907	0.0132	L	0.43152	1.355	0.23381	N	0.997794	P;P	0.41393	0.748;0.707	B;B	0.35859	0.154;0.212	T	0.40608	-0.9554	10	0.30854	T	0.27	-16.3554	9.3142	0.37924	0.2524:0.0:0.6116:0.136	.	56;192	B4DWI3;Q99523	.;SORT_HUMAN	R	192;56	ENSP00000256637:S192R;ENSP00000438597:S56R	ENSP00000256637:S192R	S	-	3	2	SORT1	109698644	0.266000	0.24112	0.962000	0.40283	0.972000	0.66771	0.007000	0.13174	-0.361000	0.08125	-0.290000	0.09829	AGT		0.428	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959	
NBPF7	343505	hgsc.bcm.edu	37	1	120381827	120381827	+	IGR	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:120381827T>C								REG4 (27544 upstream) : ADAM30 (54328 downstream)														p.D273V(1)									GTTTAGAGCATCCTGCCATTC	0.408																																																	1	Substitution - Missense(1)	ovary(1)	1											156.0	158.0	157.0					1																	120381827		2137	4260	6397	120183350	SO:0001628	intergenic_variant	343505																															1.37:g.120381827T>C			120183350		Missense_Mutation	SNP		37																																																																																				0	0.408								
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858597	149858597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:149858597C>T	ENST00000331380.2	+	1	73	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q25*(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGCTGGCCTCCAGTTCCCGGT	0.647																																																	1	Substitution - Nonsense(1)	ovary(1)	1											69.0	75.0	73.0					1																	149858597		2203	4299	6502	148125221	SO:0001587	stop_gained	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.73C>T	1.37:g.149858597C>T	ENSP00000332194:p.Gln25*		148125221	Q6DRA7|Q8IUE5	Nonsense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077244	0.94000	.	.	ENSG00000184260	ENST00000331380	.	.	.	5.81	5.81	0.92471	.	0.000000	0.42053	D	0.000761	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6409	0.91396	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000332194:Q25X	Q	+	1	0	HIST2H2AC	148125221	1.000000	0.71417	0.959000	0.39883	0.936000	0.57629	7.596000	0.82721	2.745000	0.94114	0.655000	0.94253	CAG		0.647	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517	
CD5L	922	hgsc.bcm.edu	37	1	157803129	157803129	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:157803129G>A	ENST00000368174.4	-	5	988	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	298	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R298W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGCATTTCCGGTCTCTGAAG	0.577																																																	1	Substitution - Missense(1)	endometrium(1)	1											113.0	115.0	114.0					1																	157803129		2203	4300	6503	156069753	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.892C>T	1.37:g.157803129G>A	ENSP00000357156:p.Arg298Trp		156069753	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319847	0.23994	.	.	ENSG00000073754	ENST00000368174	T	0.36157	1.27	4.84	0.107	0.14544	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.518270	0.17576	N	0.169301	T	0.37732	0.1014	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.28004	-1.0057	10	0.72032	D	0.01	.	11.7445	0.51811	0.0:0.0:0.3041:0.6959	.	298	O43866	CD5L_HUMAN	W	298	ENSP00000357156:R298W	ENSP00000357156:R298W	R	-	1	2	CD5L	156069753	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.587000	0.05780	0.182000	0.20032	-0.274000	0.10170	CGG		0.577	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
DNM3	26052	hgsc.bcm.edu	37	1	172017862	172017862	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:172017862T>C	ENST00000355305.5	+	10	1464	c.1307T>C	c.(1306-1308)aTc>aCc	p.I436T	DNM3_ENST00000520906.1_Missense_Mutation_p.I436T|DNM3_ENST00000367731.1_Missense_Mutation_p.I436T|DNM3_ENST00000367733.2_Missense_Mutation_p.I436T|DNM3_ENST00000358155.4_Missense_Mutation_p.I436T			Q9UQ16	DYN3_HUMAN	dynamin 3	436					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAGAATTAATCAACACTGTG	0.363																																																	0			1											132.0	128.0	129.0					1																	172017862		1865	4112	5977	170284485	SO:0001583	missense	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1307T>C	1.37:g.172017862T>C	ENSP00000347457:p.Ile436Thr		170284485	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	T	15.43	2.829887	0.50845	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	N	0.20610	0.595	0.58432	D	0.999997	B;B;B;B	0.16396	0.0;0.017;0.004;0.0	B;B;B;B	0.15052	0.004;0.012;0.012;0.004	T	0.36939	-0.9727	10	0.23891	T	0.37	.	15.0317	0.71713	0.0:0.0:0.0:1.0	.	436;436;436;436	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	T	436;436;436;436;436;436;326	ENSP00000350876:I436T;ENSP00000356707:I436T;ENSP00000347457:I436T;ENSP00000356705:I436T;ENSP00000429701:I436T;ENSP00000429416:I326T	ENSP00000347457:I436T	I	+	2	0	DNM3	170284485	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.250000	0.72435	2.137000	0.66172	0.460000	0.39030	ATC		0.363	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
CENPF	1063	hgsc.bcm.edu	37	1	214813303	214813303	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:214813303A>G	ENST00000366955.3	+	12	1790	c.1622A>G	c.(1621-1623)cAa>cGa	p.Q541R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGATCTTCAAGAAAAAATA	0.338																																					Colon(80;575 1284 11000 14801 43496)												0			1											80.0	93.0	88.0					1																	214813303		2200	4299	6499	212879926	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1622A>G	1.37:g.214813303A>G	ENSP00000355922:p.Gln541Arg		212879926	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	8.712	0.912341	0.17907	.	.	ENSG00000117724	ENST00000366955	T	0.03441	3.93	5.16	5.16	0.70880	.	0.470539	0.15821	N	0.243000	T	0.01940	0.0061	.	.	.	0.28203	N	0.927262	P	0.40050	0.7	B	0.31547	0.132	T	0.38329	-0.9666	9	0.10377	T	0.69	.	9.7776	0.40630	0.9222:0.0:0.0778:0.0	.	541	P49454	CENPF_HUMAN	R	541	ENSP00000355922:Q541R	ENSP00000355922:Q541R	Q	+	2	0	CENPF	212879926	0.996000	0.38824	0.998000	0.56505	0.262000	0.26303	2.741000	0.47426	2.069000	0.61940	0.477000	0.44152	CAA		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
PRSS38	339501	hgsc.bcm.edu	37	1	228003502	228003502	+	Missense_Mutation	SNP	C	C	T	rs373059773		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:228003502C>T	ENST00000366757.3	+	1	109	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	29						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGCCCCTCCCCGGGTCGCAGC	0.692																																																	0			1						C	TRP/ARG	0,4406		0,0,2203	25.0	27.0	26.0		85	-2.9	0.0	1		26	1,8599		0,1,4299	no	missense	PRSS38	NM_183062.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	29/327	228003502	1,13005	2203	4300	6503	226070125	SO:0001583	missense	0				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.85C>T	1.37:g.228003502C>T	ENSP00000355719:p.Arg29Trp		226070125	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	7.688	0.690509	0.15039	0.0	1.16E-4	ENSG00000185888	ENST00000366757	D	0.88896	-2.44	2.28	-2.94	0.05581	.	1.699720	0.04118	N	0.315778	T	0.72137	0.3423	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.59495	-0.7444	10	0.46703	T	0.11	.	2.3008	0.04162	0.1727:0.3624:0.3403:0.1246	.	29	A1L453	PRS38_HUMAN	W	29	ENSP00000355719:R29W	ENSP00000355719:R29W	R	+	1	2	PRSS38	226070125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.441000	0.06879	-0.701000	0.05063	-1.516000	0.00938	CGG		0.692	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
PLD5	200150	hgsc.bcm.edu	37	1	242383405	242383405	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:242383405G>A	ENST00000536534.2	-	5	861	c.620C>T	c.(619-621)aCg>aTg	p.T207M	PLD5_ENST00000427495.1_Missense_Mutation_p.T145M|PLD5_ENST00000442594.2_Missense_Mutation_p.T115M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	207						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.T115M(3)|p.T207M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTCATGTACGTCACCTCGGC	0.557																																																	4	Substitution - Missense(4)	lung(2)|ovary(1)|large_intestine(1)	1											131.0	118.0	123.0					1																	242383405		2203	4300	6503	240450028	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.620C>T	1.37:g.242383405G>A	ENSP00000440896:p.Thr207Met		240450028	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226328	0.39300	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.52	4.6	0.57074	.	0.238118	0.43747	D	0.000527	T	0.07548	0.0190	N	0.17474	0.49	0.33978	D	0.647606	B;B;B	0.33694	0.421;0.297;0.421	B;B;B	0.21360	0.034;0.015;0.023	T	0.14420	-1.0473	10	0.54805	T	0.06	-20.8238	10.7734	0.46336	0.0909:0.0:0.9091:0.0	.	115;207;145	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	M	145;115;207	ENSP00000401285:T145M;ENSP00000414188:T115M;ENSP00000440896:T207M	ENSP00000401285:T145M	T	-	2	0	PLD5	240450028	0.983000	0.35010	0.999000	0.59377	0.995000	0.86356	1.828000	0.39111	2.591000	0.87537	0.655000	0.94253	ACG		0.557	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
CDHR5	53841	hgsc.bcm.edu	37	11	621658	621658	+	Silent	SNP	C	C	T	rs140067219		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:621658C>T	ENST00000358353.3	-	6	733	c.411G>A	c.(409-411)acG>acA	p.T137T	CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.T137T|CDHR5_ENST00000349570.7_Silent_p.T137T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	137	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.T137T(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGTTCACTTTCGTGTCCTGGG	0.627													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15813	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)	11							,,	1,4405	2.1+/-5.4	0,1,2202	118.0	97.0	104.0		411,411,411	-7.8	0.4	11	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	137/840,137/846,137/652	621658	1,13005	2203	4300	6503	611658	SO:0001819	synonymous_variant	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.411G>A	11.37:g.621658C>T			611658	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	CCDS7707.1																																																																																				0.627	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
ANO3	63982	hgsc.bcm.edu	37	11	26620415	26620415	+	Missense_Mutation	SNP	G	G	A	rs199929076		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:26620415G>A	ENST00000256737.3	+	16	2393	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	ANO3_ENST00000531568.1_Missense_Mutation_p.R368H|ANO3_ENST00000537978.1_Missense_Mutation_p.R498H|ANO3_ENST00000525139.1_Missense_Mutation_p.R498H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	514					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAAACACTTCGTCCCCAGTTT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16761	0.0		0.001	False		,,,				2504	0.0																0			11											67.0	60.0	62.0					11																	26620415		2203	4299	6502	26576991	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1541G>A	11.37:g.26620415G>A	ENSP00000256737:p.Arg514His		26576991	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.4	4.920671	0.92249	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.97	5.97	0.96955	.	0.120935	0.64402	D	0.000013	D	0.83344	0.5234	M	0.92317	3.295	0.80722	D	1	P;P	0.48350	0.909;0.779	P;B	0.47162	0.54;0.392	D	0.86997	0.2114	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	416;514	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	H	498;498;514;416;368	ENSP00000440737:R498H;ENSP00000432576:R498H;ENSP00000256737:R514H;ENSP00000432394:R368H	ENSP00000256737:R514H	R	+	2	0	ANO3	26576991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.867000	0.87062	2.834000	0.97654	0.650000	0.86243	CGT		0.393	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
CHST1	8534	hgsc.bcm.edu	37	11	45672345	45672345	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:45672345G>A	ENST00000308064.2	-	4	799	c.129C>T	c.(127-129)gcC>gcT	p.A43A	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	43					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACAGTCGCTCGGCCAGCCCGG	0.662																																																	0			11											62.0	63.0	62.0					11																	45672345		2203	4299	6502	45628921	SO:0001819	synonymous_variant	8534			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.129C>T	11.37:g.45672345G>A			45628921	D3DQP2	Silent	SNP	ENST00000308064.2	37	CCDS7913.1																																																																																				0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654	
LRP4	4038	hgsc.bcm.edu	37	11	46903378	46903378	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:46903378T>C	ENST00000378623.1	-	20	2931	c.2689A>G	c.(2689-2691)Att>Gtt	p.I897V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	897					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAAGAGATAATGACTTGGCGG	0.522																																																	0			11											98.0	90.0	93.0					11																	46903378		2201	4299	6500	46859954	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2689A>G	11.37:g.46903378T>C	ENSP00000367888:p.Ile897Val		46859954	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524894	0.85600	.	.	ENSG00000134569	ENST00000378623	D	0.96011	-3.88	5.94	5.94	0.96194	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	L	0.49640	1.575	0.58432	D	0.999999	B	0.29188	0.236	B	0.41174	0.349	D	0.93997	0.7272	10	0.52906	T	0.07	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	897	O75096	LRP4_HUMAN	V	897	ENSP00000367888:I897V	ENSP00000367888:I897V	I	-	1	0	LRP4	46859954	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.148000	0.71788	2.275000	0.75901	0.528000	0.53228	ATT		0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
MARK2	2011	hgsc.bcm.edu	37	11	63667404	63667404	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:63667404G>A	ENST00000509502.2	+	8	954	c.491G>A	c.(490-492)aGc>aAc	p.S164N	MARK2_ENST00000513765.2_Missense_Mutation_p.S164N|MARK2_ENST00000408948.3_Missense_Mutation_p.S164N|MARK2_ENST00000350490.7_Missense_Mutation_p.S197N|MARK2_ENST00000425897.2_Missense_Mutation_p.S164N|MARK2_ENST00000402010.2_Missense_Mutation_p.S197N|MARK2_ENST00000413835.2_Missense_Mutation_p.S197N|MARK2_ENST00000377809.4_Missense_Mutation_p.S197N|MARK2_ENST00000361128.5_Missense_Mutation_p.S197N|MARK2_ENST00000315032.8_Missense_Mutation_p.S197N|MARK2_ENST00000508192.1_Missense_Mutation_p.S197N|MARK2_ENST00000502399.3_Missense_Mutation_p.S197N|MARK2_ENST00000377810.3_Missense_Mutation_p.S164N	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.S164N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTGGCTTCAGCAATGAATTC	0.488																																																	1	Substitution - Missense(1)	ovary(1)	11											157.0	151.0	153.0					11																	63667404		2201	4297	6498	63423980	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.491G>A	11.37:g.63667404G>A	ENSP00000423974:p.Ser164Asn		63423980		Missense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	34	5.327907	0.95733	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.993;1.0;1.0	D;D;D;D;D;D	0.87578	0.995;0.995;0.988;0.98;0.997;0.998	T	0.78324	-0.2248	10	0.87932	D	0	.	18.3171	0.90225	0.0:0.0:1.0:0.0	.	164;164;197;197;197;197	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	N	197;197;197;197;164;197;197;197;197;164;164;164;164	ENSP00000385751:S197N;ENSP00000326632:S197N;ENSP00000367040:S197N;ENSP00000389184:S197N;ENSP00000367041:S164N;ENSP00000425765:S197N;ENSP00000355091:S197N;ENSP00000294247:S197N;ENSP00000423974:S164N;ENSP00000421075:S164N;ENSP00000386128:S164N;ENSP00000415494:S164N	ENSP00000326632:S197N	S	+	2	0	MARK2	63423980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.654000	0.98509	2.858000	0.98145	0.651000	0.88453	AGC		0.488	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490	
UVRAG	7405	hgsc.bcm.edu	37	11	75852039	75852039	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:75852039A>G	ENST00000356136.3	+	15	1923	c.1682A>G	c.(1681-1683)aAc>aGc	p.N561S	UVRAG_ENST00000533454.1_Missense_Mutation_p.N189S|UVRAG_ENST00000532130.1_Missense_Mutation_p.N189S|UVRAG_ENST00000528420.1_Missense_Mutation_p.N460S|UVRAG_ENST00000539288.1_Missense_Mutation_p.N189S|UVRAG_ENST00000531818.1_Missense_Mutation_p.N189S|UVRAG_ENST00000538870.1_Missense_Mutation_p.N117S	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	561					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TCCAAAGAAAACAAGAAAAAA	0.547																																																	0			11											48.0	48.0	48.0					11																	75852039		2200	4292	6492	75529687	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1682A>G	11.37:g.75852039A>G	ENSP00000348455:p.Asn561Ser		75529687	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364931	0.24684	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.43294	0.95	5.6	-0.844	0.10741	.	0.595355	0.18974	N	0.126076	T	0.20536	0.0494	N	0.12182	0.205	0.24433	N	0.994562	B;B	0.16603	0.018;0.0	B;B	0.12156	0.007;0.0	T	0.22138	-1.0225	10	0.18276	T	0.48	-5.8299	10.5467	0.45064	0.5223:0.0:0.4777:0.0	.	117;561	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	S	561;460;189;189;189;189;117	ENSP00000348455:N561S	ENSP00000348455:N561S	N	+	2	0	UVRAG	75529687	0.000000	0.05858	0.974000	0.42286	0.951000	0.60555	-0.348000	0.07740	-0.157000	0.11059	-0.250000	0.11733	AAC		0.547	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
ARHGAP20	57569	hgsc.bcm.edu	37	11	110450666	110450666	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:110450666G>A	ENST00000260283.4	-	16	3288	c.3004C>T	c.(3004-3006)Ccc>Tcc	p.P1002S	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.P966S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.P966S|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.P545S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.P976S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.P976S|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.P979S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1002					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGGGACCGGGCATTCCGGAA	0.507																																																	0			11											61.0	59.0	60.0					11																	110450666		2201	4298	6499	109955876	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3004C>T	11.37:g.110450666G>A	ENSP00000260283:p.Pro1002Ser		109955876	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	4.977	0.181538	0.09495	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08634	3.07;3.07;3.12;3.07;3.08;3.07;3.08	5.9	2.23	0.28157	.	0.406304	0.25217	N	0.032271	T	0.07773	0.0195	L	0.60455	1.87	0.09310	N	1	P;B;P	0.43287	0.802;0.451;0.587	B;B;B	0.38156	0.266;0.137;0.266	T	0.24119	-1.0169	10	0.26408	T	0.33	.	6.8606	0.24064	0.2042:0.2133:0.5825:0.0	.	976;1002;979	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	S	1002;976;545;979;966;976;966	ENSP00000260283:P1002S;ENSP00000349660:P976S;ENSP00000437905:P545S;ENSP00000432076:P979S;ENSP00000436319:P966S;ENSP00000436522:P976S;ENSP00000431399:P966S	ENSP00000260283:P1002S	P	-	1	0	ARHGAP20	109955876	0.482000	0.25948	0.296000	0.24974	0.155000	0.21991	1.737000	0.38197	1.518000	0.48934	0.650000	0.86243	CCC		0.507	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
CBL	867	hgsc.bcm.edu	37	11	119148966	119148966	+	Missense_Mutation	SNP	T	T	C	rs387906665		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:119148966T>C	ENST00000264033.4	+	8	1562	c.1186T>C	c.(1186-1188)Tgt>Cgt	p.C396R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	396	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.C396R(3)|p.?(1)|p.E366_K477del(1)|p.C396G(1)|p.E369_Q409del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GATTGAGCCCTGTGGACACCT	0.383			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	20	Deletion - In frame(15)|Substitution - Missense(4)|Unknown(1)	haematopoietic_and_lymphoid_tissue(20)	11											126.0	117.0	120.0					11																	119148966		2199	4295	6494	118654176	SO:0001583	missense	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1186T>C	11.37:g.119148966T>C	ENSP00000264033:p.Cys396Arg		118654176	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362648	0.61403	.	.	ENSG00000110395	ENST00000264033	D	0.92149	-2.98	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.97958	0.9328	H	0.99668	4.69	0.80722	D	1	D	0.62365	0.991	D	0.65010	0.931	D	0.99679	1.0998	10	0.87932	D	0	-27.6918	15.9527	0.79855	0.0:0.0:0.0:1.0	.	396	P22681	CBL_HUMAN	R	396	ENSP00000264033:C396R	ENSP00000264033:C396R	C	+	1	0	CBL	118654176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.655000	0.83696	2.227000	0.72691	0.455000	0.32223	TGT		0.383	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
STT3A	3703	hgsc.bcm.edu	37	11	125478127	125478127	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:125478127G>A	ENST00000529196.1	+	10	1110	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	STT3A_ENST00000531491.1_Missense_Mutation_p.V210I|STT3A_ENST00000392708.4_Missense_Mutation_p.V302I			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	302					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTTCCGGAGCGTCATCTCTCT	0.478																																																	0			11											121.0	115.0	117.0					11																	125478127		2201	4299	6500	124983337	SO:0001583	missense	3703			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.904G>A	11.37:g.125478127G>A	ENSP00000436962:p.Val302Ile		124983337	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905799	0.33628	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	L	0.29908	0.895	0.80722	D	1	B;B;B	0.18166	0.009;0.026;0.014	B;B;B	0.18263	0.008;0.021;0.021	T	0.45833	-0.9234	9	0.14656	T	0.56	-22.0069	19.7105	0.96095	0.0:0.0:1.0:0.0	.	210;210;302	B4DJ24;E9PNQ1;P46977	.;.;STT3A_HUMAN	I	302;302;210	.	ENSP00000376472:V302I	V	+	1	0	STT3A	124983337	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.004000	0.88535	2.760000	0.94817	0.655000	0.94253	GTC		0.478	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	
MYLK4	340156	hgsc.bcm.edu	37	6	2749440	2749440	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:2749440T>C	ENST00000274643.7	-	2	431	c.89A>G	c.(88-90)gAg>gGg	p.E30G	MYLK4_ENST00000268446.5_Missense_Mutation_p.E30G	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	30			E -> Q (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TTTCTCCACCTCTTCCCTGCA	0.393																																																	0			6											142.0	146.0	145.0					6																	2749440		2203	4300	6503	2694439	SO:0001583	missense	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.89A>G	6.37:g.2749440T>C	ENSP00000274643:p.Glu30Gly		2694439	A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308459	0.60305	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.68479	0.0;-0.33	5.65	5.65	0.86999	.	.	.	.	.	T	0.29288	0.0729	N	0.08118	0	0.27050	N	0.963809	B	0.23058	0.079	B	0.21917	0.037	T	0.16394	-1.0404	9	0.33940	T	0.23	.	13.2505	0.60050	0.0:0.0:0.0:1.0	.	30	Q86YV6	MYLK4_HUMAN	G	30	ENSP00000268446:E30G;ENSP00000274643:E30G	ENSP00000268446:E30G	E	-	2	0	MYLK4	2694439	0.964000	0.33143	0.877000	0.34402	0.887000	0.51463	3.020000	0.49643	2.149000	0.67028	0.533000	0.62120	GAG		0.393	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418	
ATXN1	6310	hgsc.bcm.edu	37	6	16327918	16327918	+	Missense_Mutation	SNP	C	C	A	rs28555263	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442																0			6											5.0	8.0	7.0					6																	16327918		1579	3505	5084	16435897	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His		16435897	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
ZBTB12	221527	hgsc.bcm.edu	37	6	31868570	31868570	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:31868570A>G	ENST00000375527.2	-	2	688	c.513T>C	c.(511-513)ccT>ccC	p.P171P	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	171	Pro-rich.				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)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GAGGGGGTAGAGGAGGTGGGG	0.622																																																	0			6											21.0	25.0	24.0					6																	31868570		2196	4278	6474	31976549	SO:0001819	synonymous_variant	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.513T>C	6.37:g.31868570A>G			31976549	B0UY00|Q5JQ98	Silent	SNP	ENST00000375527.2	37	CCDS4727.1																																																																																				0.622	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842	
COL11A2	1302	hgsc.bcm.edu	37	6	33154591	33154591	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:33154591T>C	ENST00000374708.4	-	5	869	c.611A>G	c.(610-612)gAt>gGt	p.D204G	COL11A2_ENST00000395194.1_Missense_Mutation_p.D204G|COL11A2_ENST00000395197.1_Missense_Mutation_p.D204G|COL11A2_ENST00000374712.1_Missense_Mutation_p.D204G|COL11A2_ENST00000357486.1_Missense_Mutation_p.D204G|COL11A2_ENST00000341947.2_Missense_Mutation_p.D204G|COL11A2_ENST00000374713.1_Missense_Mutation_p.D204G|COL11A2_ENST00000361917.1_Missense_Mutation_p.D204G|COL11A2_ENST00000374714.1_Missense_Mutation_p.D204G	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	204	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D204V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTCCTGGACATCACCCTGCAA	0.542																																					Melanoma(1;90 116 3946 5341 17093)												1	Substitution - Missense(1)	ovary(1)	6											123.0	118.0	119.0					6																	33154591		2203	4300	6503	33262569	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.611A>G	6.37:g.33154591T>C	ENSP00000363840:p.Asp204Gly		33262569	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956661	0.73902	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	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	4.21	4.21	0.49690	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.067864	0.56097	D	0.000035	D	0.87245	0.6129	M	0.90870	3.155	0.45227	D	0.998233	D;D;D;D	0.76494	0.999;0.964;0.964;0.997	D;P;P;D	0.87578	0.998;0.619;0.619;0.992	D	0.88980	0.3407	10	0.56958	D	0.05	.	11.5471	0.50700	0.0:0.0:0.0:1.0	.	204;204;204;204	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	G	204	ENSP00000363840:D204G;ENSP00000339915:D204G;ENSP00000350079:D204G;ENSP00000363846:D204G;ENSP00000363845:D204G;ENSP00000378623:D204G;ENSP00000363844:D204G;ENSP00000355123:D204G;ENSP00000405520:D204G;ENSP00000378620:D204G	ENSP00000339915:D204G	D	-	2	0	COL11A2	33262569	1.000000	0.71417	0.982000	0.44146	0.819000	0.46315	6.689000	0.74562	1.896000	0.54893	0.363000	0.22086	GAT		0.542	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
DAAM2	23500	hgsc.bcm.edu	37	6	39832277	39832277	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:39832277G>T	ENST00000398904.2	+	4	509	c.327G>T	c.(325-327)atG>atT	p.M109I	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000538976.1_Missense_Mutation_p.M109I|DAAM2_ENST00000274867.4_Missense_Mutation_p.M109I			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	109	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCAATTCCATGGCTGCGGTGA	0.602																																																	0			6											55.0	56.0	56.0					6																	39832277		1990	4168	6158	39940255	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.327G>T	6.37:g.39832277G>T	ENSP00000381876:p.Met109Ile		39940255	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037499	0.75617	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.89196	-2.48;-2.48;-2.48	5.89	5.89	0.94794	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	T	0.81517	0.4839	L	0.46157	1.445	0.80722	D	1	B;P	0.34462	0.4;0.454	B;B	0.34931	0.121;0.192	T	0.79652	-0.1714	10	0.21014	T	0.42	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	109;109	G5EA45;Q86T65	.;DAAM2_HUMAN	I	109	ENSP00000274867:M109I;ENSP00000381876:M109I;ENSP00000437808:M109I	ENSP00000274867:M109I	M	+	3	0	DAAM2	39940255	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.793000	0.96121	0.561000	0.74099	ATG		0.602	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
FRS3	10817	hgsc.bcm.edu	37	6	41740590	41740590	+	Missense_Mutation	SNP	G	G	A	rs545980178		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:41740590G>A	ENST00000373018.3	-	5	612	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	FRS3_ENST00000259748.2_Missense_Mutation_p.R121C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	121					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.R121C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTATTGCGGGTGATGATG	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16216	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)	6											124.0	125.0	125.0					6																	41740590		2203	4300	6503	41848568	SO:0001583	missense	10817			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.361C>T	6.37:g.41740590G>A	ENSP00000362109:p.Arg121Cys		41848568	Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337540	0.81911	.	.	ENSG00000137218	ENST00000373018;ENST00000259748;ENST00000426290	D;D	0.82711	-1.64;-1.64	5.46	3.49	0.39957	.	0.207707	0.33875	N	0.004468	D	0.86847	0.6031	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86363	0.1718	10	0.52906	T	0.07	-37.7643	12.373	0.55265	0.0:0.0:0.6461:0.3539	.	121	O43559	FRS3_HUMAN	C	121;121;145	ENSP00000362109:R121C;ENSP00000259748:R121C	ENSP00000259748:R121C	R	-	1	0	FRS3	41848568	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.032000	0.57274	2.573000	0.86826	0.655000	0.94253	CGC		0.547	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653	
GPR115	221393	hgsc.bcm.edu	37	6	47682260	47682260	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:47682260T>C	ENST00000283303.2	+	6	1537	c.1279T>C	c.(1279-1281)Tgg>Cgg	p.W427R	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.W484R|GPR115_ENST00000327753.3_Missense_Mutation_p.W427R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	427					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGCCACAGTGTGGTCCCGGGT	0.488																																					GBM(22;431 510 9010 26644 32828)												0			6											181.0	157.0	165.0					6																	47682260		2203	4300	6503	47790219	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1279T>C	6.37:g.47682260T>C	ENSP00000283303:p.Trp427Arg		47790219	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111825	0.56398	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.36699	1.24;1.24;1.24	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000002	T	0.56485	0.1988	M	0.82923	2.615	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	T	0.64550	-0.6381	10	0.87932	D	0	-11.894	14.9854	0.71345	0.0:0.0:0.0:1.0	.	427	Q8IZF3	GP115_HUMAN	R	484;427;427	ENSP00000360264:W484R;ENSP00000328319:W427R;ENSP00000283303:W427R	ENSP00000283303:W427R	W	+	1	0	GPR115	47790219	1.000000	0.71417	0.995000	0.50966	0.353000	0.29299	7.969000	0.87988	2.197000	0.70478	0.533000	0.62120	TGG		0.488	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
TINAG	27283	hgsc.bcm.edu	37	6	54214666	54214666	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:54214666G>A	ENST00000259782.4	+	7	1148	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	351					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTATCAATGTTCTCCTCCA	0.418																																																	0			6											119.0	113.0	115.0					6																	54214666		2203	4300	6503	54322625	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1052G>A	6.37:g.54214666G>A	ENSP00000259782:p.Cys351Tyr		54322625	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629364	0.67015	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.86865	-2.18	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88777	0.3268	10	0.59425	D	0.04	.	13.3137	0.60394	0.0:0.1585:0.8415:0.0	.	351	Q9UJW2	TINAG_HUMAN	Y	210;351;30	ENSP00000259782:C351Y	ENSP00000259782:C351Y	C	+	2	0	TINAG	54322625	1.000000	0.71417	0.980000	0.43619	0.928000	0.56348	3.633000	0.54295	2.785000	0.95823	0.591000	0.81541	TGT		0.418	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
BACH2	60468	hgsc.bcm.edu	37	6	90718472	90718472	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:90718472C>T	ENST00000257749.4	-	6	799	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	BACH2_ENST00000343122.3_Missense_Mutation_p.R31Q|BACH2_ENST00000537989.1_Missense_Mutation_p.R31Q	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	31						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATCCTTTTTCCGCTGGTCATT	0.542																																																	0			6											160.0	150.0	153.0					6																	90718472		2203	4300	6503	90775193	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.92G>A	6.37:g.90718472C>T	ENSP00000257749:p.Arg31Gln		90775193	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496452	0.96355	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.33	5.33	0.75918	BTB/POZ (1);BTB/POZ fold (2);	0.061018	0.64402	D	0.000002	T	0.53932	0.1827	M	0.92026	3.265	0.58432	D	0.999996	D	0.89917	1.0	D	0.66602	0.945	T	0.66156	-0.5994	10	0.87932	D	0	-1.7635	19.0228	0.92921	0.0:1.0:0.0:0.0	.	31	Q9BYV9	BACH2_HUMAN	Q	31	ENSP00000257749:R31Q;ENSP00000437473:R31Q;ENSP00000345642:R31Q;ENSP00000384145:R31Q;ENSP00000397668:R31Q	ENSP00000257749:R31Q	R	-	2	0	BACH2	90775193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.507000	0.84556	0.591000	0.81541	CGG		0.542	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
RPF2	84154	hgsc.bcm.edu	37	6	111312960	111312960	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:111312960A>G	ENST00000441448.2	+	4	297	c.205A>G	c.(205-207)Aca>Gca	p.T69A		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	69	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GAAAAATATTACAAGACCTTT	0.214																																																	0			6											18.0	19.0	19.0					6																	111312960		2107	4189	6296	111419653	SO:0001583	missense	84154			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.205A>G	6.37:g.111312960A>G	ENSP00000402338:p.Thr69Ala		111419653	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	a	14.74	2.626060	0.46840	.	.	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	T;T;T	0.21932	1.98;1.98;1.98	5.54	5.54	0.83059	Brix domain (3);	0.104603	0.64402	D	0.000004	T	0.10551	0.0258	L	0.38838	1.175	0.49483	D	0.999795	B;B	0.22003	0.063;0.063	B;B	0.19666	0.026;0.026	T	0.03364	-1.1044	10	0.62326	D	0.03	-44.472	15.3605	0.74469	1.0:0.0:0.0:0.0	.	69;69	A8K800;Q9H7B2	.;RPF2_HUMAN	A	69;30;36	ENSP00000402338:T69A;ENSP00000357857:T30A;ENSP00000414026:T36A	ENSP00000357857:T30A	T	+	1	0	RPF2	111419653	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.912000	0.75753	2.101000	0.63845	0.379000	0.24179	ACA		0.214	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
SOGA3	387104	hgsc.bcm.edu	37	6	127797201	127797201	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:127797201T>C	ENST00000525778.1	-	6	2715	c.1970A>G	c.(1969-1971)gAg>gGg	p.E657G	SOGA3_ENST00000465909.2_Missense_Mutation_p.E657G|SOGA3_ENST00000481848.2_Missense_Mutation_p.E657G|SOGA3_ENST00000368268.2_Missense_Mutation_p.E657G|SOGA3_ENST00000556132.1_Missense_Mutation_p.E657G|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	657					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCGCAGCAGCTCCGTCTCGTC	0.642																																																	0			6											51.0	57.0	55.0					6																	127797201		2188	4286	6474	127838894	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1970A>G	6.37:g.127797201T>C	ENSP00000434570:p.Glu657Gly		127838894		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279154	0.80692	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.39406	1.08;1.08;1.08;1.09	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.77313	2.365	0.80722	D	1	D	0.61080	0.989	D	0.70935	0.971	T	0.63028	-0.6728	10	0.56958	D	0.05	-24.3048	15.1046	0.72310	0.0:0.0:0.0:1.0	.	657	Q5TF21	CF174_HUMAN	G	657	ENSP00000451768:E657G;ENSP00000357251:E657G;ENSP00000434570:E657G;ENSP00000435559:E657G	ENSP00000435559:E657G	E	-	2	0	C6orf174	127838894	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.994000	0.88315	1.979000	0.57680	0.459000	0.35465	GAG		0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
HIVEP2	3097	hgsc.bcm.edu	37	6	143090798	143090798	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:143090798A>G	ENST00000367604.1	-	4	5717	c.5078T>C	c.(5077-5079)cTt>cCt	p.L1693P	HIVEP2_ENST00000367603.2_Missense_Mutation_p.L1693P|HIVEP2_ENST00000012134.2_Missense_Mutation_p.L1693P			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1693					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACCTCAGAAGAGCCAGCGT	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0			6											148.0	137.0	141.0					6																	143090798		1889	4126	6015	143132491	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5078T>C	6.37:g.143090798A>G	ENSP00000356576:p.Leu1693Pro		143132491	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.576320	0.65878	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.12984	2.63;2.63;2.63	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33879	-0.9851	10	0.87932	D	0	-21.3117	16.4025	0.83647	1.0:0.0:0.0:0.0	.	1693	P31629	ZEP2_HUMAN	P	1693	ENSP00000356576:L1693P;ENSP00000356575:L1693P;ENSP00000012134:L1693P	ENSP00000012134:L1693P	L	-	2	0	HIVEP2	143132491	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	9.261000	0.95576	2.268000	0.75426	0.533000	0.62120	CTT		0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
ULBP3	79465	hgsc.bcm.edu	37	6	150386726	150386726	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:150386726C>T	ENST00000367339.2	-	3	464	c.436G>A	c.(436-438)Gga>Aga	p.G146R	ULBP3_ENST00000438272.2_Missense_Mutation_p.G146R			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	146	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AACTTCCGTCCATCGAAGCTG	0.532																																																	0			6											140.0	130.0	133.0					6																	150386726		2203	4300	6503	150428419	SO:0001583	missense	79465			AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.436G>A	6.37:g.150386726C>T	ENSP00000356308:p.Gly146Arg		150428419	Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233739	0.39498	.	.	ENSG00000131019	ENST00000399812;ENST00000253335;ENST00000367339;ENST00000438272	T;T	0.02916	4.11;4.11	3.34	2.47	0.30058	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.06554	0.0168	M	0.82433	2.59	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.18272	-1.0342	9	0.87932	D	0	-4.1369	6.3937	0.21601	0.0:0.8626:0.0:0.1374	.	146;146	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	R	97;146;146;146	ENSP00000356308:G146R;ENSP00000403562:G146R	ENSP00000253335:G146R	G	-	1	0	ULBP3	150428419	0.000000	0.05858	0.014000	0.15608	0.009000	0.06853	-0.039000	0.12124	0.970000	0.38263	0.491000	0.48974	GGA		0.532	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2		
SYNE1	23345	hgsc.bcm.edu	37	6	152461139	152461139	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:152461139A>G	ENST00000367255.5	-	140	26005	c.25404T>C	c.(25402-25404)cgT>cgC	p.R8468R	SYNE1_ENST00000423061.1_Silent_p.R8420R|SYNE1_ENST00000539504.1_Silent_p.R623R|SYNE1_ENST00000341594.5_Silent_p.R8080R|SYNE1_ENST00000265368.4_Silent_p.R8468R|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.R8420R|SYNE1_ENST00000354674.4_Silent_p.R646R|SYNE1_ENST00000356820.4_Silent_p.R2992R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			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)		TGAGTTCCAGACGCTGGAGCT	0.562										HNSCC(10;0.0054)																																							0			6											118.0	96.0	104.0					6																	152461139		2203	4300	6503	152502832	SO:0001819	synonymous_variant	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.25404T>C	6.37:g.152461139A>G			152502832	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu	37	6	152655269	152655269	+	Missense_Mutation	SNP	C	C	T	rs140492158		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:152655269C>T	ENST00000367255.5	-	77	13269	c.12668G>A	c.(12667-12669)cGt>cAt	p.R4223H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R4152H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4088H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4223H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R4152H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4223			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R4223H(1)		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)		GTTAGACTGACGGCACAAATC	0.373										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0	0.0	5008	,	,		16701	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)	6						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	217.0	191.0	200.0		12455,12668	-0.9	0.5	6	dbSNP_134	200	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	4152/8750,4223/8798	152655269	1,13005	2203	4300	6503	152696962	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.12668G>A	6.37:g.152655269C>T	ENSP00000356224:p.Arg4223His		152696962	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	6.162	0.398168	0.11696	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.71	-0.854	0.10705	.	0.513023	0.17921	N	0.157481	T	0.04588	0.0125	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.27365	-1.0076	10	0.31617	T	0.26	.	3.2606	0.06848	0.483:0.2691:0.0609:0.187	.	4223;4223;4152	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	H	4223;4152;4223;4152;4088	ENSP00000356224:R4223H;ENSP00000396024:R4152H;ENSP00000265368:R4223H;ENSP00000390975:R4152H;ENSP00000341887:R4088H	ENSP00000265368:R4223H	R	-	2	0	SYNE1	152696962	0.769000	0.28531	0.527000	0.27925	0.214000	0.24535	1.310000	0.33551	-0.355000	0.08199	-2.290000	0.00267	CGT		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TAGAP	117289	hgsc.bcm.edu	37	6	159460321	159460321	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr6:159460321C>T	ENST00000367066.3	-	8	939	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	TAGAP_ENST00000338313.5_Missense_Mutation_p.R203Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R25Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	203	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GAGGTTGGGCCGGGGGAGCTT	0.498																																																	0			6											70.0	69.0	69.0					6																	159460321		2203	4300	6503	159380309	SO:0001583	missense	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.608G>A	6.37:g.159460321C>T	ENSP00000356033:p.Arg203Gln		159380309	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139243	0.21205	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000338313	T;T;T	0.18810	2.19;2.19;2.19	5.87	-1.71	0.08133	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.556823	0.17586	N	0.168933	T	0.04679	0.0127	L	0.45285	1.41	0.09310	N	1	B;B	0.32753	0.232;0.383	B;B	0.23150	0.019;0.044	T	0.26224	-1.0109	10	0.51188	T	0.08	-2.5662	6.9761	0.24677	0.0:0.4524:0.3099:0.2377	.	203;203	Q8N103-4;Q8N103	.;TAGAP_HUMAN	Q	203;25;203	ENSP00000356033:R203Q;ENSP00000322650:R25Q;ENSP00000340217:R203Q	ENSP00000322650:R25Q	R	-	2	0	TAGAP	159380309	0.010000	0.17322	0.006000	0.13384	0.016000	0.09150	0.407000	0.21049	-0.328000	0.08539	-1.616000	0.00795	CGG		0.498	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
TP53	7157	hgsc.bcm.edu	37	17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:7577102C>T	ENST00000269305.4	-	8	1025	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000445888.2_Missense_Mutation_p.G279E|TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000420246.2_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G279E	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	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(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)	CCGGTCTCTCCCAGGACAGGC	0.547		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"""	60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(1)	17											75.0	65.0	68.0					17																	7577102		2203	4300	6503	7517827	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.836G>A	17.37:g.7577102C>T	ENSP00000269305:p.Gly279Glu		7517827	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	26.6	4.753775	0.89753	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	4.16	0.48862	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	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;0.999;1.0	D	0.96457	0.9338	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	279;279;279;279;279;268;147	ENSP00000352610:G279E;ENSP00000269305:G279E;ENSP00000398846:G279E;ENSP00000391127:G279E;ENSP00000391478:G279E;ENSP00000425104:G147E	ENSP00000269305:G279E	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	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	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7578273	7578273	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:7578273C>A	ENST00000269305.4	-	6	765	c.576G>T	c.(574-576)caG>caT	p.Q192H	TP53_ENST00000445888.2_Missense_Mutation_p.Q192H|TP53_ENST00000359597.4_Missense_Mutation_p.Q192H|TP53_ENST00000420246.2_Missense_Mutation_p.Q192H|TP53_ENST00000413465.2_Missense_Mutation_p.Q192H|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Q192H	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	192	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(6)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.Q192H(3)|p.P191fs*53(2)|p.Q192Q(2)|p.P191fs*15(1)|p.Q192>XXXXXXXXX(1)|p.Q192del(1)|p.P191fs*6(1)|p.P98_E105>Q(1)|p.P191_Q192delPQ(1)|p.P59_E66>Q(1)|p.A189fs*53(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)	GGATAAGATGCTGAGGAGGGG	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"""	36	Whole gene deletion(8)|Deletion - In frame(6)|Unknown(6)|Complex - deletion inframe(5)|Deletion - Frameshift(4)|Substitution - Missense(3)|Substitution - coding silent(2)|Complex - frameshift(1)|Complex - insertion inframe(1)	breast(6)|biliary_tract(5)|skin(4)|bone(4)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|lung(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|liver(1)|large_intestine(1)	17											93.0	83.0	87.0					17																	7578273		2203	4300	6503	7518998	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.576G>T	17.37:g.7578273C>A	ENSP00000269305:p.Gln192His		7518998	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	8.951	0.968192	0.18659	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	5.41	2.22	0.28083	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.242461	0.43260	N	0.000594	D	0.99542	0.9836	M	0.70903	2.155	0.45216	D	0.99822	B;B;B;B;B;B;D	0.76494	0.186;0.022;0.12;0.057;0.027;0.027;0.999	B;B;B;B;B;B;D	0.72075	0.094;0.036;0.112;0.055;0.061;0.091;0.976	D	0.99466	1.0944	10	0.87932	D	0	-22.6404	7.338	0.26621	0.424:0.4986:0.0:0.0773	.	153;192;192;99;192;192;192	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	192;192;192;192;192;192;181;99;60;99;60	ENSP00000410739:Q192H;ENSP00000352610:Q192H;ENSP00000269305:Q192H;ENSP00000398846:Q192H;ENSP00000391127:Q192H;ENSP00000391478:Q192H;ENSP00000425104:Q60H;ENSP00000423862:Q99H	ENSP00000269305:Q192H	Q	-	3	2	TP53	7518998	0.457000	0.25752	0.975000	0.42487	0.036000	0.12997	-0.237000	0.08990	0.312000	0.23038	0.655000	0.94253	CAG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7579866	7579866	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:7579866T>A	ENST00000269305.4	-	2	236	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	TP53_ENST00000445888.2_Missense_Mutation_p.Q16L|TP53_ENST00000359597.4_Missense_Mutation_p.Q16L|TP53_ENST00000420246.2_Missense_Mutation_p.Q16L|TP53_ENST00000413465.2_Missense_Mutation_p.Q16L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.Q16L	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	16	Interaction with HRMT1L2.|Transcription activation (acidic).		Q -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Q16L(2)|p.P13fs*18(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)	AAATGTTTCCTGACTCAGAGG	0.602		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"""	11	Whole gene deletion(8)|Substitution - Missense(2)|Deletion - Frameshift(1)	bone(4)|central_nervous_system(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	17											50.0	46.0	47.0					17																	7579866		2203	4300	6503	7520591	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.47A>T	17.37:g.7579866T>A	ENSP00000269305:p.Gln16Leu		7520591	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	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839456	0.71488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99503	-5.55;-6.03;-5.75;-6.03;-6.03;-5.75;-5.75;-4.43;-2.49	5.36	5.36	0.76844	p53 transactivation domain (1);	0.302055	0.34245	N	0.004123	D	0.99420	0.9795	M	0.81942	2.565	0.48135	D	0.999595	D;D;D;P;D;D;D	0.89917	1.0;0.998;0.981;0.77;1.0;0.999;0.997	D;D;D;P;D;D;D	0.80764	0.993;0.985;0.969;0.537;0.991;0.982;0.994	D	0.98662	1.0684	10	0.87932	D	0	-30.4841	12.0477	0.53489	0.0:0.0:0.0:1.0	.	16;16;16;16;16;16;16	E7EMR6;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	16	ENSP00000410739:Q16L;ENSP00000352610:Q16L;ENSP00000269305:Q16L;ENSP00000398846:Q16L;ENSP00000391127:Q16L;ENSP00000391478:Q16L;ENSP00000423862:Q16L;ENSP00000424104:Q16L;ENSP00000426252:Q16L	ENSP00000269305:Q16L	Q	-	2	0	TP53	7520591	1.000000	0.71417	0.999000	0.59377	0.498000	0.33706	4.667000	0.61561	2.171000	0.68590	0.459000	0.35465	CAG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TOP3A	7156	hgsc.bcm.edu	37	17	18210248	18210248	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:18210248G>T	ENST00000321105.5	-	4	561	c.347C>A	c.(346-348)gCa>gAa	p.A116E	TOP3A_ENST00000542570.1_Missense_Mutation_p.A21E|TOP3A_ENST00000582230.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	116	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTCAATTTCTGCTTCAAAGAG	0.438																																																	0			17											87.0	84.0	85.0					17																	18210248		2203	4300	6503	18150973	SO:0001583	missense	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.347C>A	17.37:g.18210248G>T	ENSP00000321636:p.Ala116Glu		18150973	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.65|18.65	3.670133|3.670133	0.67814|0.67814	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.21734|.	1.99;2.76|.	5.84|5.84	5.84|5.84	0.93424|0.93424	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86159|0.86159	0.5866|0.5866	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.87704|0.87704	0.2562|0.2562	10|5	0.87932|.	D|.	0|.	-13.5484|-13.5484	20.1342|20.1342	0.98015|0.98015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	21;116|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	E|R	116;21|95	ENSP00000321636:A116E;ENSP00000442336:A21E|.	ENSP00000321636:A116E|.	A|S	-|-	2|3	0|2	TOP3A|TOP3A	18150973|18150973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.377000|9.377000	0.97184|0.97184	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.438	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2		
SPAG5	10615	hgsc.bcm.edu	37	17	26919703	26919703	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:26919703C>T	ENST00000321765.5	-	3	891	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	187					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.A187T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCAGATACAGCAGCAACTTCT	0.463																																																	1	Substitution - Missense(1)	central_nervous_system(1)	17											116.0	114.0	115.0					17																	26919703		2203	4300	6503	23943830	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.559G>A	17.37:g.26919703C>T	ENSP00000323300:p.Ala187Thr		23943830	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	4.241	0.043621	0.08196	.	.	ENSG00000076382	ENST00000321765	T	0.23950	1.88	5.89	-2.61	0.06171	.	1.259610	0.05317	N	0.525941	T	0.12817	0.0311	N	0.11560	0.145	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.28586	-1.0039	10	0.41790	T	0.15	7.1699	5.4205	0.16398	0.1327:0.3823:0.0:0.485	.	187	Q96R06	SPAG5_HUMAN	T	187	ENSP00000323300:A187T	ENSP00000323300:A187T	A	-	1	0	SPAG5	23943830	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.435000	0.06931	-0.719000	0.04942	-0.150000	0.13652	GCT		0.463	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
CDK12	51755	hgsc.bcm.edu	37	17	37676317	37676317	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:37676317A>G	ENST00000447079.4	+	11	3105	c.3072A>G	c.(3070-3072)gaA>gaG	p.E1024E	CDK12_ENST00000430627.2_Silent_p.E1024E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1024					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGATGTCGAACTCAGCAAAA	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											131.0	111.0	118.0					17																	37676317		2203	4300	6503	34929843	SO:0001819	synonymous_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3072A>G	17.37:g.37676317A>G			34929843	A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	CCDS11337.1																																																																																				0.473	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
NMT1	4836	hgsc.bcm.edu	37	17	43182230	43182230	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:43182230G>A	ENST00000592782.1	+	12	1467	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	NMT1_ENST00000258960.2_Missense_Mutation_p.G446R			P30419	NMT1_HUMAN	N-myristoyltransferase 1	446					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTTGCAGAAAGGGTTTGATGT	0.502																																																	0			17											147.0	145.0	146.0					17																	43182230		2203	4300	6503	40537756	SO:0001583	missense	4836				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1336G>A	17.37:g.43182230G>A	ENSP00000468424:p.Gly446Arg		40537756	A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336026	0.95758	.	.	ENSG00000136448	ENST00000258960	T	0.45276	0.9	5.93	5.93	0.95920	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69606	-0.5100	10	0.72032	D	0.01	-21.4263	20.3437	0.98782	0.0:0.0:1.0:0.0	.	446	P30419	NMT1_HUMAN	R	446	ENSP00000258960:G446R	ENSP00000258960:G446R	G	+	1	0	NMT1	40537756	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.760000	0.98935	2.815000	0.96918	0.561000	0.74099	GGG		0.502	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079	
SKAP1	8631	hgsc.bcm.edu	37	17	46265270	46265270	+	Missense_Mutation	SNP	G	G	A	rs368601769		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:46265270G>A	ENST00000336915.6	-	6	446	c.377C>T	c.(376-378)tCg>tTg	p.S126L	RP11-456D7.1_ENST00000582246.1_RNA|SKAP1_ENST00000584924.1_Missense_Mutation_p.S126L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTGCCACTCCGATCCAAAGAA	0.413																																																	0			17						G	LEU/SER,LEU/SER	0,4406		0,0,2203	113.0	97.0	103.0		377,377	6.0	1.0	17		103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SKAP1	NM_001075099.1,NM_003726.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/359,126/360	46265270	1,13005	2203	4300	6503	43620269	SO:0001583	missense	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.377C>T	17.37:g.46265270G>A	ENSP00000338171:p.Ser126Leu		43620269	D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452544	0.43531	0.0	1.16E-4	ENSG00000141293	ENST00000336915	T	0.13307	2.6	6.04	6.04	0.98038	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.199846	0.45126	D	0.000384	T	0.26991	0.0661	L	0.38838	1.175	0.47778	D	0.999511	P;D	0.89917	0.602;1.0	B;P	0.62649	0.022;0.905	T	0.00501	-1.1702	10	0.21014	T	0.42	-3.0535	20.1899	0.98228	0.0:0.0:1.0:0.0	.	126;126	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	L	126	ENSP00000338171:S126L	ENSP00000338171:S126L	S	-	2	0	SKAP1	43620269	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	5.318000	0.65829	2.873000	0.98535	0.563000	0.77884	TCG		0.413	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726	
ZNF652	22834	hgsc.bcm.edu	37	17	47394440	47394440	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:47394440A>G	ENST00000362063.2	-	2	966	c.648T>C	c.(646-648)agT>agC	p.S216S	ZNF652_ENST00000430262.2_Silent_p.S216S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	216					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.S216R(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGGCTCTACACTCTTCCTAC	0.517																																																	1	Substitution - Missense(1)	ovary(1)	17											118.0	104.0	109.0					17																	47394440		2203	4300	6503	44749439	SO:0001819	synonymous_variant	22834			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.648T>C	17.37:g.47394440A>G			44749439	A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	CCDS32677.1																																																																																				0.517	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
ACE	1636	hgsc.bcm.edu	37	17	61561265	61561265	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:61561265G>T	ENST00000290866.4	+	11	1666	c.1642G>T	c.(1642-1644)Gca>Tca	p.A548S	ACE_ENST00000421982.2_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.A548S|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000577647.1_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	548	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGCAAGGAGGCAGGCTATGA	0.617																																																	0			17											88.0	74.0	79.0					17																	61561265		2203	4300	6503	58914997	SO:0001583	missense	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1642G>T	17.37:g.61561265G>T	ENSP00000290866:p.Ala548Ser		58914997	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877816	0.91664	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.44482	0.92;0.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.52126	1.63	0.80722	D	1	D;B	0.65815	0.995;0.051	D;P	0.79784	0.993;0.447	T	0.52223	-0.8604	10	0.31617	T	0.26	-15.5179	19.8372	0.96661	0.0:0.0:1.0:0.0	.	548;548	P12821-2;P12821	.;ACE_HUMAN	S	548	ENSP00000290866:A548S;ENSP00000397593:A548S	ENSP00000290866:A548S	A	+	1	0	ACE	58914997	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.765000	0.98953	2.695000	0.91970	0.462000	0.41574	GCA		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2		
KIAA0195	9772	hgsc.bcm.edu	37	17	73481572	73481572	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:73481572C>T	ENST00000314256.7	+	3	482	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	KIAA0195_ENST00000375248.5_Silent_p.L40L|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	30						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGGAGCAGCTGGAGGCAGT	0.657																																																	0			17											93.0	91.0	92.0					17																	73481572		2203	4300	6503	70993167	SO:0001819	synonymous_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.88C>T	17.37:g.73481572C>T			70993167	O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	CCDS32732.1																																																																																				0.657	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738	
FBF1	85302	hgsc.bcm.edu	37	17	73922457	73922457	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr17:73922457C>T	ENST00000586717.1	-	10	877	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	FBF1_ENST00000389570.4_Missense_Mutation_p.E202K|FBF1_ENST00000319129.5_Missense_Mutation_p.E202K			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	202					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AACAACAATTCTTCTTTTTTT	0.507																																																	0			17											33.0	34.0	34.0					17																	73922457		1881	4105	5986	71434052	SO:0001583	missense	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.604G>A	17.37:g.73922457C>T	ENSP00000465132:p.Glu202Lys		71434052	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	C	12.16	1.854282	0.32791	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.24151	1.87;1.87	4.88	3.91	0.45181	.	.	.	.	.	T	0.30792	0.0776	M	0.61703	1.905	0.22896	N	0.998595	B;B;B	0.33694	0.29;0.17;0.421	B;B;B	0.37601	0.107;0.165;0.254	T	0.19844	-1.0293	9	0.66056	D	0.02	-1.3408	11.1053	0.48199	0.0:0.9121:0.0:0.0879	.	216;202;202	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	K	202;202;202;215	ENSP00000374221:E202K;ENSP00000324292:E202K	ENSP00000324292:E202K	E	-	1	0	FBF1	71434052	0.480000	0.25933	0.056000	0.19401	0.376000	0.30014	1.677000	0.37576	1.038000	0.40049	0.655000	0.94253	GAA		0.507	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	
ADAMTS5	11096	hgsc.bcm.edu	37	21	28338453	28338453	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr21:28338453C>A	ENST00000284987.5	-	1	379	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	86					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGTAGCCCACCTTGCCGCCGC	0.701																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0			21											49.0	47.0	48.0					21																	28338453		2186	4290	6476	27260324	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.258G>T	21.37:g.28338453C>A	ENSP00000284987:p.Lys86Asn		27260324	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424517	0.62733	.	.	ENSG00000154736	ENST00000284987	T	0.06449	3.3	4.32	-0.058	0.13799	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.07773	0.0195	M	0.65498	2.005	0.36072	D	0.842185	B	0.28324	0.207	B	0.32583	0.148	T	0.12915	-1.0529	10	0.40728	T	0.16	.	6.2098	0.20623	0.0:0.5686:0.1433:0.2881	.	86	Q9UNA0	ATS5_HUMAN	N	86	ENSP00000284987:K86N	ENSP00000284987:K86N	K	-	3	2	ADAMTS5	27260324	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.660000	0.25009	0.085000	0.17107	0.563000	0.77884	AAG		0.701	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
CACNA1H	8912	hgsc.bcm.edu	37	16	1252441	1252441	+	Missense_Mutation	SNP	T	T	C	rs4984636	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:1252441T>C	ENST00000348261.5	+	9	2239	c.1991T>C	c.(1990-1992)gTc>gCc	p.V664A	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V664A|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V664A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	664			V -> A (in dbSNP:rs4984636). {ECO:0000269|PubMed:11751928, ECO:0000269|PubMed:12891677, ECO:0000269|PubMed:9670923}.		aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCGCATGTGGTCGGGGAGCAT	0.682													T|||	530	0.105831	0.0091	0.1744	5008	,	,		16513	0.002		0.2863	False		,,,				2504	0.1094																0			16						T	ALA/VAL,ALA/VAL	178,3466		11,156,1655	4.0	5.0	5.0		1991,1991	4.5	0.2	16	dbSNP_111	5	1823,5663		248,1327,2168	yes	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	64,64	259,1483,3823	CC,CT,TT		24.3521,4.8847,17.9784	possibly-damaging,possibly-damaging	664/2348,664/2354	1252441	2001,9129	1822	3743	5565	1192442	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1991T>C	16.37:g.1252441T>C	ENSP00000334198:p.Val664Ala		1192442	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	287	0.13141025641025642	8	0.016260162601626018	63	0.17403314917127072	1	0.0017482517482517483	215	0.2836411609498681	T	17.49	3.403103	0.62288	0.048847	0.243521	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96619	-4.07;-4.01	4.47	4.47	0.54385	.	157.429000	0.00166	N	0.000000	T	0.00178	0.0005	L	0.50333	1.59	0.36796	P	0.11489499999999997	P;D	0.53151	0.571;0.958	B;P	0.46026	0.288;0.501	T	0.54669	-0.8259	9	0.51188	T	0.08	.	13.0686	0.59048	0.0:0.0:0.0:1.0	rs4984636;rs57010276;rs4984636	664;664	O95180-2;O95180	.;CAC1H_HUMAN	A	664	ENSP00000334198:V664A;ENSP00000351401:V664A	ENSP00000334198:V664A	V	+	2	0	CACNA1H	1192442	1.000000	0.71417	0.174000	0.22961	0.858000	0.48976	4.766000	0.62279	1.864000	0.54056	0.533000	0.62120	GTC		0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
ABCA3	21	hgsc.bcm.edu	37	16	2369796	2369796	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:2369796C>A	ENST00000301732.5	-	8	1359	c.659G>T	c.(658-660)cGg>cTg	p.R220L	ABCA3_ENST00000382381.3_Missense_Mutation_p.R220L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	220					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CATGATGGCCCGGTCCACAGC	0.647																																																	0			16											108.0	87.0	94.0					16																	2369796		2198	4300	6498	2309797	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.659G>T	16.37:g.2369796C>A	ENSP00000301732:p.Arg220Leu		2309797	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226211	0.22542	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90324	-2.65	5.18	-2.37	0.06643	.	0.328711	0.31809	N	0.007026	D	0.86331	0.5907	M	0.75884	2.315	0.09310	N	1	P;B;B	0.34934	0.476;0.008;0.166	B;B;B	0.34093	0.175;0.048;0.173	T	0.79107	-0.1939	10	0.72032	D	0.01	.	6.7053	0.23246	0.1169:0.4771:0.0:0.406	.	220;282;220	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	L	220;282	ENSP00000301732:R220L	ENSP00000301732:R220L	R	-	2	0	ABCA3	2309797	0.007000	0.16637	0.019000	0.16419	0.013000	0.08279	0.395000	0.20850	-0.230000	0.09840	-0.136000	0.14681	CGG		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
CORO7	79585	hgsc.bcm.edu	37	16	4411003	4411003	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:4411003G>T	ENST00000251166.4	-	19	2003	c.1858C>A	c.(1858-1860)Cgc>Agc	p.R620S	CORO7_ENST00000574025.1_Missense_Mutation_p.R535S|CORO7_ENST00000537233.2_Missense_Mutation_p.R602S|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R620S|CORO7_ENST00000539968.1_Missense_Mutation_p.R400S|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	620					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TCCCAGATGCGAACAGTGAGG	0.637																																																	0			16											95.0	85.0	88.0					16																	4411003		2196	4300	6496	4351004	SO:0001583	missense	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1858C>A	16.37:g.4411003G>T	ENSP00000251166:p.Arg620Ser		4351004	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660401	0.67586	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.67345	-0.26;-0.26	5.17	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.056297	0.64402	D	0.000001	T	0.76688	0.4022	M	0.72576	2.205	0.80722	D	1	D;P;D;D;D	0.71674	0.998;0.956;0.991;0.975;0.995	D;P;P;P;D	0.69142	0.94;0.733;0.878;0.878;0.962	T	0.75878	-0.3162	10	0.51188	T	0.08	-14.2097	8.1675	0.31235	0.0872:0.0:0.7622:0.1506	.	535;602;400;620;601	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	S	620;535;400	ENSP00000251166:R620S;ENSP00000446221:R400S	ENSP00000251166:R620S	R	-	1	0	CORO7	4351004	1.000000	0.71417	0.839000	0.33178	0.745000	0.42441	2.912000	0.48782	0.991000	0.38814	0.455000	0.32223	CGC		0.637	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
NOD2	64127	hgsc.bcm.edu	37	16	50745482	50745482	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:50745482G>A	ENST00000300589.2	+	4	1765	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	554	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGCAGACTGGCTCTGTGGGG	0.632																																																	0			16											33.0	35.0	34.0					16																	50745482		2198	4300	6498	49302983	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1660G>A	16.37:g.50745482G>A	ENSP00000300589:p.Ala554Thr		49302983	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188469	0.57909	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	D	0.89617	-2.54	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000012	D	0.95348	0.8490	M	0.91818	3.245	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.96101	0.9069	10	0.87932	D	0	.	14.1217	0.65192	0.0:0.0:1.0:0.0	.	338;527;554	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	T	527;554	ENSP00000300589:A554T	ENSP00000300589:A554T	A	+	1	0	NOD2	49302983	1.000000	0.71417	0.998000	0.56505	0.044000	0.14063	8.484000	0.90445	2.399000	0.81585	0.556000	0.70494	GCT		0.632	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
SLC6A2	6530	hgsc.bcm.edu	37	16	55703563	55703563	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:55703563C>T	ENST00000379906.2	+	2	616	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	SLC6A2_ENST00000414754.3_Missense_Mutation_p.R121W|SLC6A2_ENST00000219833.8_Missense_Mutation_p.R121W|SLC6A2_ENST00000568943.1_Missense_Mutation_p.R121W|SLC6A2_ENST00000567238.1_5'Flank|SLC6A2_ENST00000561820.1_Missense_Mutation_p.R121W|SLC6A2_ENST00000566163.1_Missense_Mutation_p.R121W	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	121					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACAGTACAACCGGGAGGGGGC	0.547																																																	0			16											69.0	61.0	63.0					16																	55703563		2198	4300	6498	54261064	SO:0001583	missense	6530				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.361C>T	16.37:g.55703563C>T	ENSP00000369237:p.Arg121Trp		54261064	B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487423	0.44249	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.78126	-1.15;-1.15;-1.15	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92251	0.7542	H	0.97540	4.025	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94268	0.7508	10	0.87932	D	0	.	14.9552	0.71107	0.1428:0.8572:0.0:0.0	.	121;121	Q96KH8;P23975	.;SC6A2_HUMAN	W	121	ENSP00000394956:R121W;ENSP00000369237:R121W;ENSP00000219833:R121W	ENSP00000219833:R121W	R	+	1	2	SLC6A2	54261064	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.758000	0.26447	2.778000	0.95560	0.655000	0.94253	CGG		0.547	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
KIAA0895L	653319	hgsc.bcm.edu	37	16	67212282	67212282	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:67212282G>C	ENST00000290881.7	-	6	1899	c.973C>G	c.(973-975)Ctg>Gtg	p.L325V	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.L325V|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.L325V|KIAA0895L_ENST00000563831.2_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	325										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGCGGAACAGCACGCTGTGC	0.706																																																	0			16											8.0	10.0	10.0					16																	67212282		2049	4166	6215	65769783	SO:0001583	missense	653319			AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.973C>G	16.37:g.67212282G>C	ENSP00000290881:p.Leu325Val		65769783	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301998	0.81136	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.78223	2.4	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.994	T	0.80331	-0.1427	9	0.52906	T	0.07	-14.6329	15.1423	0.72620	0.0:0.0:1.0:0.0	.	325;325;170	Q68EN5-2;Q68EN5;Q68EN5-3	.;K895L_HUMAN;.	V	325	.	ENSP00000290881:L325V	L	-	1	2	KIAA0895L	65769783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.344000	0.59354	2.510000	0.84645	0.585000	0.79938	CTG		0.706	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715	
THAP11	57215	hgsc.bcm.edu	37	16	67876823	67876823	+	Silent	SNP	A	A	G	rs28647874|rs377516180|rs34213159	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:67876823A>G	ENST00000303596.1	+	1	611	c.366A>G	c.(364-366)caA>caG	p.Q122Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	122	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcagcaacagcagcagc	0.682													a|||	1002	0.20008	0.3843	0.1643	5008	,	,		13566	0.0496		0.1382	False		,,,				2504	0.1953																0			16						G	,	1,4003		0,1,2001	29.0	35.0	33.0		366,	-1.2	0.1	16	dbSNP_125	33	3,7849		0,3,3923	no	coding-synonymous,intron	THAP11,CENPT	NM_020457.2,NM_025082.3	,	0,4,5924	GG,GA,AA		0.0382,0.025,0.0337	,	122/315,	67876823	4,11852	2002	3926	5928	66434324	SO:0001819	synonymous_variant	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.366A>G	16.37:g.67876823A>G			66434324	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																				0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457	
THAP11	57215	hgsc.bcm.edu	37	16	67876826	67876826	+	Silent	SNP	G	G	A	rs3982383|rs377516180|rs111586870	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:67876826G>A	ENST00000303596.1	+	1	614	c.369G>A	c.(367-369)caG>caA	p.Q123Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	123	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.687													G|||	927	0.185104	0.3585	0.1686	5008	,	,		13659	0.0298		0.1372	False		,,,				2504	0.1718																0			16											21.0	31.0	28.0					16																	67876826		2013	3937	5950	66434327	SO:0001819	synonymous_variant	57215			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.369G>A	16.37:g.67876826G>A			66434327	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																				0.687	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457	
CDH1	999	hgsc.bcm.edu	37	16	68844147	68844147	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:68844147A>G	ENST00000261769.5	+	6	926	c.735A>G	c.(733-735)ccA>ccG	p.P245P	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.P245P	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	245	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTGAGGATCCAATGGAGATTT	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(4)	breast(4)	16											162.0	149.0	154.0					16																	68844147		2198	4300	6498	67401648	SO:0001819	synonymous_variant	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.735A>G	16.37:g.68844147A>G			67401648	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	CCDS10869.1																																																																																				0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
CDH1	999	hgsc.bcm.edu	37	16	68844172	68844172	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:68844172G>A	ENST00000261769.5	+	6	951	c.760G>A	c.(760-762)Gat>Aat	p.D254N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D254N	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	254	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.D254H(1)|p.D254Y(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACGGTAACCGATCAGAATGA	0.468			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	6	Unknown(4)|Substitution - Missense(2)	breast(6)	16											150.0	141.0	144.0					16																	68844172		2198	4300	6498	67401673	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.760G>A	16.37:g.68844172G>A	ENSP00000261769:p.Asp254Asn		67401673	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818611	0.90790	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	D;D	0.88509	-2.39;-2.39	5.22	5.22	0.72569	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.51477	D	0.000098	D	0.95720	0.8608	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96300	0.9220	10	0.66056	D	0.02	.	17.9295	0.88992	0.0:0.0:1.0:0.0	.	254;254	Q9UII8;P12830	.;CADH1_HUMAN	N	254	ENSP00000261769:D254N;ENSP00000414946:D254N	ENSP00000261769:D254N	D	+	1	0	CDH1	67401673	1.000000	0.71417	0.952000	0.39060	0.499000	0.33736	9.476000	0.97823	2.592000	0.87571	0.557000	0.71058	GAT		0.468	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
CALB2	794	hgsc.bcm.edu	37	16	71417308	71417308	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:71417308G>A	ENST00000302628.4	+	6	515	c.438G>A	c.(436-438)ccG>ccA	p.P146P	CALB2_ENST00000349553.5_Silent_p.P146P	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	146					cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CGAACCGGCCGTACGATGAGC	0.547																																																	0			16											118.0	90.0	99.0					16																	71417308		2198	4300	6498	69974809	SO:0001819	synonymous_variant	794			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.438G>A	16.37:g.71417308G>A			69974809	A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	CCDS10899.1																																																																																				0.547	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740	
ACSF3	197322	hgsc.bcm.edu	37	16	89178630	89178630	+	Missense_Mutation	SNP	G	G	A	rs200352879		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:89178630G>A	ENST00000317447.4	+	5	1330	c.953G>A	c.(952-954)cGt>cAt	p.R318H	ACSF3_ENST00000378345.4_Missense_Mutation_p.R53H|ACSF3_ENST00000406948.3_Missense_Mutation_p.R318H|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	318					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GATTTCTTGCGTGCAGTTTGT	0.423																																																	0			16											146.0	153.0	151.0					16																	89178630		2198	4300	6498	87706131	SO:0001583	missense	197322			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.953G>A	16.37:g.89178630G>A	ENSP00000320646:p.Arg318His		87706131	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288568	0.23478	.	.	ENSG00000176715	ENST00000537895;ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543;ENST00000538340	T;T;T;T;T;T;T	0.55588	2.78;0.72;2.78;0.72;1.03;0.81;0.51	4.49	2.51	0.30379	AMP-dependent synthetase/ligase (1);	0.174789	0.49916	N	0.000125	T	0.46328	0.1387	L	0.55103	1.725	0.35667	D	0.813029	B	0.23806	0.091	B	0.28232	0.087	T	0.53913	-0.8371	10	0.44086	T	0.13	-10.3346	9.5942	0.39565	0.1697:0.0:0.8303:0.0	.	318	Q4G176	ACSF3_HUMAN	H	53;318;53;318;53;53;93	ENSP00000439201:R53H;ENSP00000320646:R318H;ENSP00000445397:R53H;ENSP00000384627:R318H;ENSP00000367596:R53H;ENSP00000442781:R53H;ENSP00000445870:R93H	ENSP00000320646:R318H	R	+	2	0	ACSF3	87706131	1.000000	0.71417	0.922000	0.36590	0.026000	0.11368	1.180000	0.32005	0.897000	0.36392	0.558000	0.71614	CGT		0.423	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917	
SPIRE2	84501	hgsc.bcm.edu	37	16	89935986	89935986	+	Silent	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:89935986T>C	ENST00000378247.3	+	14	1861	c.1818T>C	c.(1816-1818)ccT>ccC	p.P606P	SPIRE2_ENST00000393062.2_Intron	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	606					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGATGCCTTCTAAGAAAT	0.532																																																	0			16											118.0	97.0	104.0					16																	89935986		2198	4300	6498	88463487	SO:0001819	synonymous_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1818T>C	16.37:g.89935986T>C			88463487	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	CCDS32516.1																																																																																				0.532	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
USP14	9097	hgsc.bcm.edu	37	18	198092	198092	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr18:198092A>G	ENST00000261601.7	+	9	812	c.721A>G	c.(721-723)Agt>Ggt	p.S241G	USP14_ENST00000400266.3_Missense_Mutation_p.S230G|USP14_ENST00000383589.2_Missense_Mutation_p.S195G|USP14_ENST00000582707.1_Missense_Mutation_p.S206G	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	241	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TAAAAAGAAAAGTTTAATCGA	0.318																																																	0			18											71.0	73.0	72.0					18																	198092		2203	4300	6503	188092	SO:0001583	missense	9097			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.721A>G	18.37:g.198092A>G	ENSP00000261601:p.Ser241Gly		188092	J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846315	0.71603	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.35973	1.28;1.28	6.17	6.17	0.99709	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.037204	0.85682	D	0.000000	T	0.44644	0.1303	M	0.76170	2.325	0.80722	D	1	B;B;B	0.14805	0.011;0.011;0.006	B;B;B	0.23150	0.044;0.023;0.03	T	0.34030	-0.9845	10	0.56958	D	0.05	-15.6353	16.8222	0.85835	1.0:0.0:0.0:0.0	.	230;206;241	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	G	241;206;230	ENSP00000261601:S241G;ENSP00000383125:S230G	ENSP00000261601:S241G	S	+	1	0	USP14	188092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AGT		0.318	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	
COLEC12	81035	hgsc.bcm.edu	37	18	335079	335079	+	Silent	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr18:335079G>T	ENST00000400256.3	-	6	1686	c.1479C>A	c.(1477-1479)ccC>ccA	p.P493P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	493	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.P493P(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACGCTCTCCGGGGGGACCAG	0.672																																																	1	Substitution - coding silent(1)	lung(1)	18											29.0	32.0	31.0					18																	335079		2188	4272	6460	325079	SO:0001819	synonymous_variant	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1479C>A	18.37:g.335079G>T			325079	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	CCDS32782.1																																																																																				0.672	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
SALL3	27164	hgsc.bcm.edu	37	18	76754048	76754048	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr18:76754048G>A	ENST00000537592.2	+	2	2057	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	SALL3_ENST00000536229.3_Missense_Mutation_p.R553Q|SALL3_ENST00000575389.2_Missense_Mutation_p.R686Q	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	686					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCTGCCACCGGGTGCTGAGC	0.612																																																	0			18											27.0	27.0	27.0					18																	76754048		2197	4296	6493	74855036	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2057G>A	18.37:g.76754048G>A	ENSP00000441823:p.Arg686Gln		74855036	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913697	0.52439	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.07567	3.18	4.89	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000100	T	0.29256	0.0728	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.01853	-1.1260	10	0.72032	D	0.01	-44.546	18.4468	0.90686	0.0:0.0:1.0:0.0	.	418;686	F5GXY4;Q9BXA9	.;SALL3_HUMAN	Q	686;686;418	ENSP00000441823:R686Q	ENSP00000299466:R686Q	R	+	2	0	SALL3	74855036	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	9.731000	0.98807	2.430000	0.82344	0.655000	0.94253	CGG		0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
GOLGA4	2803	hgsc.bcm.edu	37	3	37365330	37365330	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:37365330A>G	ENST00000361924.2	+	14	2327	c.1953A>G	c.(1951-1953)caA>caG	p.Q651Q	GOLGA4_ENST00000356847.4_Silent_p.Q673Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	651	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTGTGAACAAGAAAAAGAAA	0.368																																																	0			3											52.0	53.0	53.0					3																	37365330		2203	4300	6503	37340334	SO:0001819	synonymous_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1953A>G	3.37:g.37365330A>G			37340334	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	CCDS2666.1																																																																																				0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
CCR9	10803	hgsc.bcm.edu	37	3	45943249	45943249	+	Silent	SNP	A	A	G	rs199573914		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:45943249A>G	ENST00000357632.2	+	3	1149	c.969A>G	c.(967-969)agA>agG	p.R323R	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.R311R|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.R311R	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	323					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGGGTGAGAGATTCCGCCGGG	0.517																																																	0			3											107.0	101.0	103.0					3																	45943249		2203	4300	6503	45918253	SO:0001819	synonymous_variant	10803			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.969A>G	3.37:g.45943249A>G			45918253	Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	CCDS2732.1																																																																																				0.517	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
ZMYND10	51364	hgsc.bcm.edu	37	3	50382648	50382648	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:50382648A>G	ENST00000231749.3	-	2	1380	c.108T>C	c.(106-108)caT>caC	p.H36H	ZMYND10_ENST00000360165.3_Silent_p.H36H|ZMYND10-AS1_ENST00000440013.1_RNA|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000490675.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	36					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGGTTCTCATGCTGCTGGT	0.587										TSP Lung(30;0.18)																																							0			3											142.0	113.0	123.0					3																	50382648		2203	4300	6503	50357652	SO:0001819	synonymous_variant	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.108T>C	3.37:g.50382648A>G			50357652	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	CCDS2825.1																																																																																				0.587	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896	
VPRBP	9730	hgsc.bcm.edu	37	3	51517770	51517770	+	Missense_Mutation	SNP	A	A	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:51517770A>C	ENST00000335891.5	-	1	84	c.75T>G	c.(73-75)caT>caG	p.H25Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	25					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCCCACTGCCATGTTCCTTTT	0.428																																																	0			3											148.0	133.0	138.0					3																	51517770		1925	4128	6053	51492810	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.75T>G	3.37:g.51517770A>C	ENSP00000338857:p.His25Gln		51492810	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	A	15.37	2.813450	0.50527	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.56444	0.46;0.9	5.77	4.61	0.57282	.	0.141403	0.64402	D	0.000005	T	0.33876	0.0878	N	0.21617	0.685	0.23449	N	0.997657	B	0.21905	0.062	B	0.19391	0.025	T	0.19095	-1.0316	10	0.06625	T	0.88	-17.2361	11.5994	0.50993	0.9294:0.0:0.0706:0.0	.	25	Q9Y4B6	VPRBP_HUMAN	Q	25	ENSP00000338857:H25Q;ENSP00000421724:H25Q	ENSP00000338857:H25Q	H	-	3	2	VPRBP	51492810	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.630000	0.46494	1.005000	0.39183	0.533000	0.62120	CAT		0.428	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
EPHA3	2042	hgsc.bcm.edu	37	3	89391237	89391237	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:89391237G>T	ENST00000336596.2	+	5	1528	c.1303G>T	c.(1303-1305)Gct>Tct	p.A435S	EPHA3_ENST00000494014.1_Missense_Mutation_p.A435S|EPHA3_ENST00000452448.2_Missense_Mutation_p.A435S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	435	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A435S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AACTAATCAGGCTGGTGAGTA	0.443										TSP Lung(6;0.00050)																																							1	Substitution - Missense(1)	lung(1)	3											54.0	45.0	48.0					3																	89391237		2203	4300	6503	89473927	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1303G>T	3.37:g.89391237G>T	ENSP00000337451:p.Ala435Ser		89473927	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253478	0.80135	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.54675	0.56;0.56;0.56	5.53	5.53	0.82687	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.945	T	0.68085	-0.5502	9	.	.	.	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	435;435	P29320;P29320-2	EPHA3_HUMAN;.	S	435	ENSP00000337451:A435S;ENSP00000399926:A435S;ENSP00000419190:A435S	.	A	+	1	0	EPHA3	89473927	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.951000	0.87819	2.763000	0.94921	0.563000	0.77884	GCT		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
ST3GAL6	10402	hgsc.bcm.edu	37	3	98510736	98510736	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:98510736A>G	ENST00000483910.1	+	9	1097	c.808A>G	c.(808-810)Ata>Gta	p.I270V	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.I270V|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.I152V	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	270					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.I270V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGCGTTTTACATATGTCACGA	0.393																																																	1	Substitution - Missense(1)	ovary(1)	3											182.0	170.0	174.0					3																	98510736		2203	4300	6503	99993426	SO:0001583	missense	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.808A>G	3.37:g.98510736A>G	ENSP00000417376:p.Ile270Val		99993426	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351896	0.41700	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000394162	T;T;T	0.29655	1.56;1.56;1.56	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.43646	1.37	0.45690	D	0.998606	B;B	0.34103	0.34;0.437	B;B	0.44224	0.237;0.444	T	0.08638	-1.0712	10	0.20519	T	0.43	-28.8281	13.9197	0.63923	1.0:0.0:0.0:0.0	.	152;270	F8W6U0;Q9Y274	.;SIA10_HUMAN	V	270;152;270	ENSP00000417376:I270V;ENSP00000265261:I152V;ENSP00000377717:I270V	ENSP00000265261:I152V	I	+	1	0	ST3GAL6	99993426	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.628000	0.46477	2.181000	0.69327	0.533000	0.62120	ATA		0.393	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
TFDP2	7029	hgsc.bcm.edu	37	3	141692894	141692894	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:141692894A>G	ENST00000489671.1	-	8	1089	c.659T>C	c.(658-660)cTg>cCg	p.L220P	TFDP2_ENST00000317104.7_Missense_Mutation_p.L144P|TFDP2_ENST00000310282.6_Missense_Mutation_p.L160P|TFDP2_ENST00000486111.1_Missense_Mutation_p.L160P|TFDP2_ENST00000467072.1_Missense_Mutation_p.L160P|TFDP2_ENST00000495310.1_Missense_Mutation_p.L123P|TFDP2_ENST00000477292.1_Missense_Mutation_p.L84P|TFDP2_ENST00000479040.1_Missense_Mutation_p.L159P|TFDP2_ENST00000397991.4_Missense_Mutation_p.L192P|TFDP2_ENST00000499676.2_Missense_Mutation_p.L160P			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	220	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						ACTTACCTCCAGATTCTGACA	0.308																																																	0			3											87.0	81.0	83.0					3																	141692894		1843	4118	5961	143175584	SO:0001583	missense	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.659T>C	3.37:g.141692894A>G	ENSP00000420616:p.Leu220Pro		143175584	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533007	0.85812	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.57752	1.36;1.32;1.36;0.42;0.38;1.36;1.38;1.36;1.36;1.33;1.08;1.09	5.77	5.77	0.91146	Transcription factor DP, C-terminal (1);	0.000000	0.64402	D	0.000005	T	0.79411	0.4441	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.84772	0.0768	10	0.87932	D	0	-3.6025	16.0985	0.81148	1.0:0.0:0.0:0.0	.	123;220;160	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	P	160;220;160;84;123;160;144;160;159;192;160;134;159	ENSP00000439782:L160P;ENSP00000420616:L220P;ENSP00000420599:L160P;ENSP00000418971:L84P;ENSP00000419036:L123P;ENSP00000418590:L160P;ENSP00000315668:L144P;ENSP00000309622:L160P;ENSP00000417585:L159P;ENSP00000381078:L192P;ENSP00000417726:L160P;ENSP00000417220:L159P	ENSP00000309622:L160P	L	-	2	0	TFDP2	143175584	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.170000	0.94795	2.197000	0.70478	0.455000	0.32223	CTG		0.308	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	
MED12L	116931	hgsc.bcm.edu	37	3	151067973	151067973	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:151067973A>G	ENST00000474524.1	+	15	2310	c.2272A>G	c.(2272-2274)Aag>Gag	p.K758E	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K618E|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	758						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K758E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTAAATAAGAAGAGCACCAC	0.443																																																	1	Substitution - Missense(1)	ovary(1)	3											99.0	103.0	102.0					3																	151067973		2203	4300	6503	152550663	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2272A>G	3.37:g.151067973A>G	ENSP00000417235:p.Lys758Glu		152550663	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909136	0.92107	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.69806	-0.25;-0.43	5.81	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	M	0.65975	2.015	0.80722	D	1	D;B	0.89917	1.0;0.384	D;B	0.87578	0.998;0.159	T	0.79787	-0.1656	10	0.87932	D	0	-31.5076	11.1202	0.48284	0.9279:0.0:0.0721:0.0	.	618;758	F8WAE6;Q86YW9	.;MD12L_HUMAN	E	758;618	ENSP00000417235:K758E;ENSP00000273432:K618E	ENSP00000273432:K618E	K	+	1	0	MED12L	152550663	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.474000	0.90413	1.051000	0.40369	0.455000	0.32223	AAG		0.443	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
PIK3CA	5290	hgsc.bcm.edu	37	3	178952125	178952125	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:178952125C>A	ENST00000263967.3	+	21	3337	c.3180C>A	c.(3178-3180)caC>caA	p.H1060Q	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1060	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1060H(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGATCTTCCACACAATTAAAC	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - coding silent(1)	thyroid(1)	3											92.0	83.0	86.0					3																	178952125		1907	4136	6043	180434819	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3180C>A	3.37:g.178952125C>A	ENSP00000263967:p.His1060Gln		180434819	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018411	0.54576	.	.	ENSG00000121879	ENST00000263967	T	0.80738	-1.41	6.08	5.04	0.67666	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	D	0.91811	0.7409	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92964	0.6391	10	0.87932	D	0	-9.2959	12.6212	0.56603	0.0:0.8609:0.0:0.1391	.	1060	P42336	PK3CA_HUMAN	Q	1060	ENSP00000263967:H1060Q	ENSP00000263967:H1060Q	H	+	3	2	PIK3CA	180434819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.727000	0.54984	2.894000	0.99253	0.591000	0.81541	CAC		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
CPN2	1370	hgsc.bcm.edu	37	3	194063287	194063287	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:194063287G>A	ENST00000323830.3	-	2	234	c.145C>T	c.(145-147)Cca>Tca	p.P49S	CPN2_ENST00000429275.1_Missense_Mutation_p.P49S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	49	LRRNT.				protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TTCGTATATGGCGGGATGTCC	0.547																																																	0			3											134.0	126.0	129.0					3																	194063287		2203	4300	6503	195544982	SO:0001583	missense	221184			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.145C>T	3.37:g.194063287G>A	ENSP00000319464:p.Pro49Ser		195544982	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.151219	0.00325	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.23950	1.88;1.88	5.19	4.3	0.51218	Leucine-rich repeat-containing N-terminal (1);	0.213797	0.23852	N	0.043928	T	0.16171	0.0389	L	0.33753	1.03	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	T	0.26815	-1.0092	10	0.06494	T	0.89	.	10.5023	0.44813	0.0784:0.1697:0.7519:0.0	.	49	P22792	CPN2_HUMAN	S	49	ENSP00000319464:P49S;ENSP00000402232:P49S	ENSP00000319464:P49S	P	-	1	0	CPN2	195544982	0.000000	0.05858	0.036000	0.18154	0.012000	0.07955	0.697000	0.25556	1.299000	0.44798	0.561000	0.74099	CCA		0.547	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
A2ML1	144568	hgsc.bcm.edu	37	12	9020926	9020926	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:9020926G>A	ENST00000299698.7	+	31	4214	c.4034G>A	c.(4033-4035)cGa>cAa	p.R1345Q	A2ML1_ENST00000539547.1_Missense_Mutation_p.R854Q	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.R1345Q(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTCACCTCGATCCTTGACT	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)	12											156.0	154.0	155.0					12																	9020926		1978	4161	6139	8912193	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.4034G>A	12.37:g.9020926G>A	ENSP00000299698:p.Arg1345Gln		8912193		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250736	0.10130	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.42513	0.97;0.97;0.97	3.69	-0.271	0.12922	Alpha-macroglobulin, receptor-binding (2);	4.993110	0.00691	N	0.000724	T	0.31513	0.0799	L	0.41573	1.285	0.09310	N	1	B	0.26318	0.146	B	0.17433	0.018	T	0.05419	-1.0886	10	0.23302	T	0.38	.	4.3132	0.10981	0.3687:0.0:0.4769:0.1544	.	1345	A8K2U0	A2ML1_HUMAN	Q	1345;1345;895;854	ENSP00000299698:R1345Q;ENSP00000443174:R895Q;ENSP00000438292:R854Q	ENSP00000299698:R1345Q	R	+	2	0	A2ML1	8912193	0.000000	0.05858	0.235000	0.24058	0.127000	0.20565	-0.162000	0.10012	-0.060000	0.13132	0.561000	0.74099	CGA		0.488	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
PIK3C2G	5288	hgsc.bcm.edu	37	12	18552754	18552754	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:18552754T>A	ENST00000266497.5	+	14	2203	c.2165T>A	c.(2164-2166)tTa>tAa	p.L722*	PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.L722*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.L763*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	722	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.L722S(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTCAACCTTTAGAGGCTCTT	0.413																																																	1	Substitution - Missense(1)	central_nervous_system(1)	12											65.0	64.0	64.0					12																	18552754		1832	4089	5921	18444021	SO:0001587	stop_gained	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2165T>A	12.37:g.18552754T>A	ENSP00000266497:p.Leu722*		18444021	A1L3U0	Nonsense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	38	7.195019	0.98129	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	5.08	2.67	0.31697	.	0.364736	0.22279	N	0.062143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3184	5.0597	0.14551	0.0:0.1586:0.1551:0.6863	.	.	.	.	X	722;722;763	.	ENSP00000266497:L722X	L	+	2	0	PIK3C2G	18444021	0.981000	0.34729	0.987000	0.45799	0.730000	0.41778	1.859000	0.39418	0.384000	0.24942	0.477000	0.44152	TTA		0.413	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PDE3A	5139	hgsc.bcm.edu	37	12	20766516	20766516	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:20766516A>T	ENST00000359062.3	+	3	1191	c.1151A>T	c.(1150-1152)cAg>cTg	p.Q384L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	384					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)	CTCAGCACACAGCTCACCTTC	0.542																																																	0			12											109.0	101.0	104.0					12																	20766516		2203	4300	6503	20657783	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.1151A>T	12.37:g.20766516A>T	ENSP00000351957:p.Gln384Leu		20657783	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952671	0.92660	.	.	ENSG00000172572	ENST00000359062	T	0.56103	0.48	5.87	5.87	0.94306	.	2.091460	0.01485	N	0.016845	T	0.76183	0.3952	L	0.61218	1.895	0.58432	D	0.999999	D	0.64830	0.994	D	0.75020	0.985	T	0.53655	-0.8408	10	0.59425	D	0.04	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	384	Q14432	PDE3A_HUMAN	L	384	ENSP00000351957:Q384L	ENSP00000351957:Q384L	Q	+	2	0	PDE3A	20657783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.340000	0.90044	2.371000	0.80710	0.533000	0.62120	CAG		0.542	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
KRT2	3849	hgsc.bcm.edu	37	12	53045642	53045642	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:53045642A>G	ENST00000309680.3	-	1	306	c.285T>C	c.(283-285)ggT>ggC	p.G95G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	95	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		cgcctccaaaaccacctcctc	0.617																																																	0			12											53.0	34.0	40.0					12																	53045642		2198	4298	6496	51331909	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.285T>C	12.37:g.53045642A>G			51331909	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.617	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
RAB5B	5869	hgsc.bcm.edu	37	12	56383809	56383809	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:56383809G>A	ENST00000360299.5	+	3	463	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	RAB5B_ENST00000553116.1_Missense_Mutation_p.R81Q|RAB5B_ENST00000448789.2_Missense_Mutation_p.R81Q	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	81					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GGGCAGGAGCGATATCACAGC	0.507																																																	0			12											149.0	123.0	132.0					12																	56383809		2203	4300	6503	54670076	SO:0001583	missense	5869				CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.242G>A	12.37:g.56383809G>A	ENSP00000353444:p.Arg81Gln		54670076	A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	ENST00000360299.5	37	CCDS8900.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368666	0.95900	.	.	ENSG00000111540	ENST00000553116;ENST00000360299;ENST00000548068;ENST00000551459;ENST00000448789	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.49305	D	0.000157	T	0.79540	0.4463	L	0.54908	1.71	0.80722	D	1	P;D	0.65815	0.928;0.995	P;P	0.48921	0.595;0.588	T	0.82766	-0.0295	10	0.87932	D	0	-2.6971	17.1784	0.86848	0.0:0.0:1.0:0.0	.	81;81	B4DKD7;P61020	.;RAB5B_HUMAN	Q	81	ENSP00000450168:R81Q;ENSP00000353444:R81Q;ENSP00000447895:R81Q;ENSP00000449554:R81Q;ENSP00000391319:R81Q	ENSP00000353444:R81Q	R	+	2	0	RAB5B	54670076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.750000	0.85110	2.676000	0.91093	0.585000	0.79938	CGA		0.507	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1		
GLIPR1L2	144321	hgsc.bcm.edu	37	12	75816730	75816730	+	Silent	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:75816730C>A	ENST00000550916.1	+	4	678	c.631C>A	c.(631-633)Cga>Aga	p.R211R	GLIPR1L2_ENST00000435775.1_3'UTR|GLIPR1L2_ENST00000320460.4_Silent_p.R211R|GLIPR1L2_ENST00000441218.1_Silent_p.R146R|GLIPR1L2_ENST00000378692.3_Silent_p.R104R	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	211						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						ATTTTGTACTCGATGTGGCAG	0.328																																																	0			12											160.0	157.0	158.0					12																	75816730		2203	4300	6503	74102997	SO:0001819	synonymous_variant	144321			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.631C>A	12.37:g.75816730C>A			74102997	Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	ENST00000550916.1	37	CCDS58258.1																																																																																				0.328	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436	
UTP20	27340	hgsc.bcm.edu	37	12	101745962	101745962	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:101745962C>T	ENST00000261637.4	+	39	5188	c.5014C>T	c.(5014-5016)Ctg>Ttg	p.L1672L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1672					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAATCAAAAACTGGGTGTCAG	0.338																																																	0			12											144.0	144.0	144.0					12																	101745962		2203	4300	6503	100270093	SO:0001819	synonymous_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5014C>T	12.37:g.101745962C>T			100270093	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																				0.338	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
HECTD4	283450	hgsc.bcm.edu	37	12	112601455	112601455	+	Missense_Mutation	SNP	C	C	T	rs181634938	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:112601455C>T	ENST00000430131.2	-	73	12667	c.11522G>A	c.(11521-11523)cGg>cAg	p.R3841Q	HECTD4_ENST00000377560.5_Missense_Mutation_p.R4091Q|HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4117Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3841	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAGGCCGGCCCGCACGGCCGT	0.677													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17305	0.0		0.0	False		,,,				2504	0.0																0			12						C	GLN/ARG	0,3200		0,0,1600	9.0	14.0	12.0		12272	5.7	1.0	12		12	1,6265		0,1,3132	no	missense	C12orf51	NM_001109662.2	43	0,1,4732	TT,TC,CC		0.016,0.0,0.0106	possibly-damaging	4091/4247	112601455	1,9465	1600	3133	4733	111085838	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11522G>A	12.37:g.112601455C>T	ENSP00000404379:p.Arg3841Gln		111085838	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		9	0.004120879120879121	0	0.0	2	0.0055248618784530384	0	0.0	7	0.009234828496042216	C	34	5.388529	0.95988	0.0	1.6E-4	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.49139	0.79;0.79;0.79	5.73	5.73	0.89815	HECT (4);	.	.	.	.	T	0.54983	0.1892	L	0.39898	1.24	0.58432	D	0.999998	D	0.69078	0.997	D	0.72982	0.979	T	0.60821	-0.7187	9	0.66056	D	0.02	.	19.8984	0.96975	0.0:1.0:0.0:0.0	.	3841	Q9Y4D8	K0614_HUMAN	Q	4091;3841;4117;306	ENSP00000366783:R4091Q;ENSP00000404379:R3841Q;ENSP00000449784:R4117Q	ENSP00000366783:R4091Q	R	-	2	0	C12orf51	111085838	1.000000	0.71417	0.965000	0.40720	0.808000	0.45660	7.310000	0.78947	2.713000	0.92767	0.655000	0.94253	CGG		0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
PTPN11	5781	hgsc.bcm.edu	37	12	112926889	112926889	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:112926889G>A	ENST00000351677.2	+	13	1707	c.1509G>A	c.(1507-1509)ggG>ggA	p.G503G		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	507	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						AGAGGTCAGGGATGGTCCAGA	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																																								111411272	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.1509G>A	12.37:g.112926889G>A			111411272	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1																																																																																				0.463	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
RIMBP2	23504	hgsc.bcm.edu	37	12	130898850	130898850	+	Splice_Site	SNP	G	G	A	rs149347862	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:130898850G>A	ENST00000261655.4	-	14	2635	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	824					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D824D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCGTAATCGTCTGCGAGCA	0.572													G|||	23	0.00459265	0.0166	0.0014	5008	,	,		18348	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	prostate(1)	12						G		58,4348	55.5+/-91.7	0,58,2145	52.0	58.0	56.0		2472	-2.0	0.2	12	dbSNP_134	56	0,8600		0,0,4300	yes	coding-synonymous-near-splice	RIMBP2	NM_015347.4		0,58,6445	AA,AG,GG		0.0,1.3164,0.4459		824/1053	130898850	58,12948	2203	4300	6503	129464803	SO:0001630	splice_region_variant	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2471-1C>T	12.37:g.130898850G>A			129464803	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	Silent
DLL4	54567	hgsc.bcm.edu	37	15	41228533	41228533	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr15:41228533G>A	ENST00000249749.5	+	9	1624	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	450	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TAACCCTTGCGCCCACGGTGG	0.637																																																	0			15											34.0	37.0	36.0					15																	41228533		2171	4259	6430	39015825	SO:0001583	missense	54567			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1348G>A	15.37:g.41228533G>A	ENSP00000249749:p.Ala450Thr		39015825	Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	7.221	0.597358	0.13875	.	.	ENSG00000128917	ENST00000249749	T	0.61392	0.11	5.85	4.92	0.64577	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.522071	0.23510	N	0.047419	T	0.46288	0.1385	L	0.53617	1.68	0.40207	D	0.977583	B	0.09022	0.002	B	0.08055	0.003	T	0.39396	-0.9616	10	0.18710	T	0.47	.	5.4299	0.16448	0.0757:0.1167:0.6337:0.1739	.	450	Q9NR61	DLL4_HUMAN	T	450	ENSP00000249749:A450T	ENSP00000249749:A450T	A	+	1	0	DLL4	39015825	1.000000	0.71417	0.920000	0.36463	0.118000	0.20060	3.285000	0.51716	1.453000	0.47775	0.655000	0.94253	GCC		0.637	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1		
SNX33	257364	hgsc.bcm.edu	37	15	75942728	75942728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr15:75942728C>T	ENST00000308527.5	+	1	2482	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	429	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TCATTCCTTCCAGATGGACCC	0.572																																																	0			15											116.0	105.0	108.0					15																	75942728		2197	4294	6491	73729783	SO:0001587	stop_gained	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1285C>T	15.37:g.75942728C>T	ENSP00000311427:p.Gln429*		73729783	B1NM17	Nonsense_Mutation	SNP	ENST00000308527.5	37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	C	48	14.517368	0.99799	.	.	ENSG00000173548	ENST00000308527	.	.	.	5.48	5.48	0.80851	.	0.176896	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-14.3268	18.3366	0.90290	0.0:1.0:0.0:0.0	.	.	.	.	X	429	.	ENSP00000311427:Q429X	Q	+	1	0	SNX33	73729783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.440000	0.52886	2.586000	0.87340	0.561000	0.74099	CAG		0.572	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271	
NHS	4810	hgsc.bcm.edu	37	X	17750348	17750348	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrX:17750348T>C	ENST00000380060.3	+	8	4995	c.4657T>C	c.(4657-4659)Tcc>Ccc	p.S1553P	NHS_ENST00000398097.3_Missense_Mutation_p.S1397P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1574					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGAGGCATTGTCCCCACTCTC	0.592																																																	0			X											104.0	88.0	93.0					X																	17750348		2203	4300	6503	17660269	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4657T>C	X.37:g.17750348T>C	ENSP00000369400:p.Ser1553Pro		17660269	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929282	0.52759	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49432	0.78;0.78	5.69	5.69	0.88448	.	0.250624	0.42053	D	0.000771	T	0.58878	0.2153	M	0.62723	1.935	0.21740	N	0.999562	D;D;D;D	0.64830	0.958;0.958;0.958;0.994	P;P;P;P	0.58454	0.563;0.563;0.563;0.839	T	0.55879	-0.8071	10	0.42905	T	0.14	-14.2251	10.9059	0.47079	0.1423:0.0:0.0:0.8577	.	1574;1395;1397;1553	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	P	1553;1397;1395	ENSP00000369400:S1553P;ENSP00000381170:S1397P	ENSP00000369397:S1395P	S	+	1	0	NHS	17660269	0.328000	0.24687	0.998000	0.56505	0.929000	0.56500	0.812000	0.27211	2.025000	0.59659	0.486000	0.48141	TCC		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
RLIM	51132	hgsc.bcm.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												3	Substitution - Missense(3)	prostate(2)|ovary(1)	X											45.0	38.0	40.0					X																	73811648		2203	4300	6503	73728373	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu		73728373	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120	
TMEM164	84187	hgsc.bcm.edu	37	X	109388058	109388058	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrX:109388058G>C	ENST00000372073.1	+	5	876	c.540G>C	c.(538-540)caG>caC	p.Q180H	TMEM164_ENST00000288381.4_Missense_Mutation_p.Q141H|TMEM164_ENST00000372068.2_Missense_Mutation_p.Q180H|TMEM164_ENST00000372072.3_Missense_Mutation_p.Q31H			Q5U3C3	TM164_HUMAN	transmembrane protein 164	180						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						ACTACATTCAGCATGTTATGC	0.463																																																	0			X											197.0	145.0	163.0					X																	109388058		2203	4300	6503	109274714	SO:0001583	missense	84187			AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.540G>C	X.37:g.109388058G>C	ENSP00000361143:p.Gln180His		109274714	B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429886	0.62844	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.41	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.73962	2.25	0.58432	D	0.999999	P;D	0.64830	0.933;0.994	P;P	0.55011	0.479;0.766	T	0.65014	-0.6271	10	0.52906	T	0.07	-7.5233	8.8417	0.35146	0.3051:0.0:0.6949:0.0	.	141;180	Q9H617;Q5U3C3	.;TM164_HUMAN	H	31;180;180;141;141	ENSP00000384075:Q31H;ENSP00000361143:Q180H;ENSP00000361138:Q180H;ENSP00000288381:Q141H	ENSP00000288381:Q141H	Q	+	3	2	TMEM164	109274714	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.674000	0.46867	0.495000	0.27882	0.600000	0.82982	CAG		0.463	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227	
XPNPEP2	7512	hgsc.bcm.edu	37	X	128888545	128888545	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrX:128888545A>G	ENST00000371106.3	+	12	1397	c.1205A>G	c.(1204-1206)gAc>gGc	p.D402G		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	402						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAGATCGTGGACAAGTTCCGA	0.582																																																	0			X											61.0	40.0	48.0					X																	128888545		2200	4291	6491	128716226	SO:0001583	missense	7512			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1205A>G	X.37:g.128888545A>G	ENSP00000360147:p.Asp402Gly		128716226	A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790060	0.50102	.	.	ENSG00000122121	ENST00000371106	T	0.78003	-1.14	5.62	5.62	0.85841	Peptidase M24, structural domain (3);	0.290766	0.41500	D	0.000879	T	0.79317	0.4425	M	0.62209	1.925	0.50313	D	0.999861	B	0.33171	0.4	B	0.40410	0.328	T	0.80355	-0.1417	10	0.72032	D	0.01	-6.4372	13.7259	0.62759	1.0:0.0:0.0:0.0	.	402	O43895	XPP2_HUMAN	G	402	ENSP00000360147:D402G	ENSP00000360147:D402G	D	+	2	0	XPNPEP2	128716226	0.990000	0.36364	0.036000	0.18154	0.133000	0.20885	6.026000	0.70873	1.885000	0.54596	0.412000	0.27726	GAC		0.582	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
LDOC1	23641	hgsc.bcm.edu	37	X	140271175	140271175	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrX:140271175G>A	ENST00000370526.2	-	1	135	c.32C>T	c.(31-33)gCg>gTg	p.A11V	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	11					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CATCAGGAGCGCGTGCAGCAG	0.667																																																	0			X											27.0	22.0	24.0					X																	140271175		2203	4296	6499	140098841	SO:0001583	missense	23641			AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.32C>T	X.37:g.140271175G>A	ENSP00000359557:p.Ala11Val		140098841	Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.361048	0.82353	.	.	ENSG00000182195	ENST00000370526	T	0.24908	1.83	3.61	3.61	0.41365	.	0.000000	0.41823	D	0.000801	T	0.34279	0.0892	L	0.36672	1.1	0.29195	N	0.875582	D	0.71674	0.998	D	0.65443	0.935	T	0.04855	-1.0922	10	0.39692	T	0.17	-11.5154	9.7936	0.40722	0.0:0.0:1.0:0.0	.	11	O95751	LDOC1_HUMAN	V	11	ENSP00000359557:A11V	ENSP00000359557:A11V	A	-	2	0	LDOC1	140098841	1.000000	0.71417	0.912000	0.35992	0.819000	0.46315	4.063000	0.57499	2.060000	0.61445	0.287000	0.19450	GCG		0.667	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317	
GABRQ	55879	hgsc.bcm.edu	37	X	151815599	151815599	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrX:151815599A>G	ENST00000370306.2	+	4	517	c.497A>G	c.(496-498)cAc>cGc	p.H166R		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	166					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCAGCTTCACCCAGATGGA	0.522																																																	0			X											210.0	147.0	168.0					X																	151815599		2203	4300	6503	151566255	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.497A>G	X.37:g.151815599A>G	ENSP00000359329:p.His166Arg		151566255	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018978	0.54576	.	.	ENSG00000147402	ENST00000370306	T	0.79141	-1.24	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.155258	0.30639	N	0.009196	T	0.77618	0.4157	L	0.33189	0.99	0.43857	D	0.996455	D	0.54047	0.964	P	0.55055	0.767	T	0.79569	-0.1749	10	0.62326	D	0.03	.	11.968	0.53047	1.0:0.0:0.0:0.0	.	166	Q9UN88	GBRT_HUMAN	R	166	ENSP00000359329:H166R	ENSP00000359329:H166R	H	+	2	0	GABRQ	151566255	1.000000	0.71417	0.988000	0.46212	0.173000	0.22820	7.273000	0.78527	1.729000	0.51567	0.441000	0.28932	CAC		0.522	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
JAKMIP1	152789	hgsc.bcm.edu	37	4	6064099	6064099	+	Silent	SNP	G	G	A	rs149678000		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:6064099G>A	ENST00000282924.5	-	10	1985	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000410077.2_Silent_p.R335R|JAKMIP1_ENST00000409831.1_Silent_p.R500R|JAKMIP1_ENST00000409021.3_Silent_p.R500R|JAKMIP1_ENST00000409371.3_Silent_p.R315R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	500	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		14934	0.0		0.001	False		,,,				2504	0.0																0			4						G	,	1,4399		0,1,2199	40.0	46.0	44.0		1500,1500	-4.8	0.9	4	dbSNP_134	44	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,3,6492	AA,AG,GG		0.0233,0.0227,0.0231	,	500/832,500/627	6064099	3,12987	2200	4295	6495	6115000	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1500C>T	4.37:g.6064099G>A			6115000	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	CCDS3385.1																																																																																				0.642	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
MAN2B2	23324	hgsc.bcm.edu	37	4	6598866	6598866	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:6598866T>C	ENST00000285599.3	+	8	1120	c.1084T>C	c.(1084-1086)Tac>Cac	p.Y362H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Y311H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	362					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GACGGGCTTCTACACGTCCCG	0.632																																																	0			4											94.0	103.0	100.0					4																	6598866		2203	4300	6503	6649767	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1084T>C	4.37:g.6598866T>C	ENSP00000285599:p.Tyr362His		6649767	Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663321	0.88251	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	D;D	0.87179	-2.22;-2.22	5.13	5.13	0.70059	Glycoside hydrolase, family 38, central domain (2);	0.250811	0.39759	N	0.001262	D	0.95069	0.8403	H	0.94264	3.515	0.51233	D	0.999911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.989;0.986	D	0.96263	0.9192	10	0.87932	D	0	-19.2869	14.099	0.65042	0.0:0.0:0.0:1.0	.	311;362;362	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	H	362;311	ENSP00000285599:Y362H;ENSP00000423129:Y311H	ENSP00000285599:Y362H	Y	+	1	0	MAN2B2	6649767	1.000000	0.71417	0.932000	0.37286	0.946000	0.59487	6.493000	0.73658	1.925000	0.55765	0.448000	0.29417	TAC		0.632	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274	
SEC24B	10427	hgsc.bcm.edu	37	4	110415907	110415907	+	Silent	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:110415907T>C	ENST00000265175.5	+	6	1438	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	SEC24B_ENST00000504968.2_Silent_p.Y492Y|SEC24B_ENST00000399100.2_Silent_p.Y426Y	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	461					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTTTGGCTATGGCTATCCAA	0.512																																																	0			4											111.0	115.0	114.0					4																	110415907		2127	4279	6406	110635356	SO:0001819	synonymous_variant	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1383T>C	4.37:g.110415907T>C			110635356	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	CCDS47124.1																																																																																				0.512	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
INPP4B	8821	hgsc.bcm.edu	37	4	143007404	143007404	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:143007404A>G	ENST00000513000.1	-	25	2813	c.2380T>C	c.(2380-2382)Tca>Cca	p.S794P	INPP4B_ENST00000262992.4_Missense_Mutation_p.S794P|INPP4B_ENST00000308502.4_Missense_Mutation_p.S794P|INPP4B_ENST00000509777.1_Missense_Mutation_p.S794P|INPP4B_ENST00000508116.1_Missense_Mutation_p.S794P	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	794					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGAAAATGTGAAATATCTGAA	0.318																																																	0			4											43.0	46.0	45.0					4																	143007404		2201	4298	6499	143226854	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2380T>C	4.37:g.143007404A>G	ENSP00000425487:p.Ser794Pro		143226854	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	A	5.493	0.276032	0.10403	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.29142	1.92;1.92;1.92;1.92;1.92;1.93;1.58;1.59	5.45	4.29	0.51040	.	0.305004	0.31092	N	0.008264	T	0.09774	0.0240	N	0.02225	-0.63	0.37499	D	0.916702	B	0.06786	0.001	B	0.06405	0.002	T	0.24440	-1.0160	10	0.12766	T	0.61	.	4.7558	0.13082	0.8169:0.0:0.1831:0.0	.	794	O15327	INP4B_HUMAN	P	794;794;794;665;794;794;609;609;794;665	ENSP00000425487:S794P;ENSP00000262992:S794P;ENSP00000308441:S794P;ENSP00000423954:S794P;ENSP00000422793:S794P;ENSP00000426207:S609P;ENSP00000427250:S794P;ENSP00000421065:S665P	ENSP00000262992:S794P	S	-	1	0	INPP4B	143226854	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.903000	0.63272	2.371000	0.80710	0.533000	0.62120	TCA		0.318	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
ARHGAP10	79658	hgsc.bcm.edu	37	4	148944515	148944515	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:148944515A>G	ENST00000336498.3	+	19	2057	c.1818A>G	c.(1816-1818)agA>agG	p.R606R	ARHGAP10_ENST00000414545.2_Silent_p.R255R	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGGCCAGAGAACCAAGAGGC	0.512																																																	0			4											93.0	96.0	95.0					4																	148944515		2203	4300	6503	149163965	SO:0001819	synonymous_variant	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1818A>G	4.37:g.148944515A>G			149163965	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248474	0.22880	.	.	ENSG00000071205	ENST00000507661	.	.	.	5.72	1.67	0.24075	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31943	-0.9925	4	.	.	.	.	3.7872	0.08705	0.2908:0.0:0.4567:0.2525	.	.	.	.	D	284	.	.	N	+	1	0	ARHGAP10	149163965	0.999000	0.42202	0.980000	0.43619	0.957000	0.61999	0.652000	0.24888	0.750000	0.32877	-0.242000	0.12053	AAC		0.512	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
FBXW7	55294	hgsc.bcm.edu	37	4	153247367	153247367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:153247367G>A	ENST00000281708.4	-	10	2664	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R479*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R479*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R303*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R399*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R361*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479*(4)|p.R479G(3)|p.R240*(2)|p.R479R(2)|p.R399*(2)|p.R399R(1)|p.?(1)|p.R361R(1)|p.R361*(1)|p.R240R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTGGCATCTCGAGAACCGCTA	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	18	Substitution - Nonsense(9)|Substitution - coding silent(5)|Substitution - Missense(3)|Unknown(1)	lung(10)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(1)	4											83.0	78.0	79.0					4																	153247367		2203	4299	6502	153466817	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1435C>T	4.37:g.153247367G>A	ENSP00000281708:p.Arg479*		153466817	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	38	6.707523	0.97780	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.72	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7081	15.6805	0.77364	0.0:0.0:0.8491:0.1508	.	.	.	.	X	479;361;399;303	.	ENSP00000263981:R399X	R	-	1	2	FBXW7	153466817	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.541000	0.73865	1.492000	0.48499	0.650000	0.86243	CGA		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
RAPGEF2	9693	hgsc.bcm.edu	37	4	160274960	160274960	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:160274960A>G	ENST00000264431.4	+	22	4349	c.3930A>G	c.(3928-3930)caA>caG	p.Q1310Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1310					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATAACAGGCAAAATCAAAGTA	0.468																																																	0			4											96.0	96.0	96.0					4																	160274960		1884	4119	6003	160494410	SO:0001819	synonymous_variant	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3930A>G	4.37:g.160274960A>G			160494410	D3DP27	Silent	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	0.665	-0.804093	0.02819	.	.	ENSG00000109756	ENST00000505026	.	.	.	6.11	0.296	0.15757	.	.	.	.	.	T	0.57504	0.2058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49457	-0.8938	4	.	.	.	.	10.0017	0.41933	0.2446:0.1078:0.6476:0.0	.	.	.	.	E	245	.	.	K	+	1	0	RAPGEF2	160494410	0.311000	0.24536	0.992000	0.48379	0.129000	0.20672	-0.713000	0.05007	-0.276000	0.09206	-0.250000	0.11733	AAA		0.468	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
NPY5R	4889	hgsc.bcm.edu	37	4	164272326	164272326	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:164272326G>A	ENST00000515560.1	+	4	2423	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	NPY5R_ENST00000506953.1_Missense_Mutation_p.E301K|NPY5R_ENST00000338566.3_Missense_Mutation_p.E301K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	301					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACCTGCTCCAGAAAGACCTTC	0.428																																					Melanoma(139;1287 1774 9781 19750 25599)												0			4											90.0	91.0	91.0					4																	164272326		2203	4300	6503	164491776	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.901G>A	4.37:g.164272326G>A	ENSP00000423917:p.Glu301Lys		164491776	Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655396	0.03480	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.70282	-0.47;-0.47;-0.47	4.49	0.231	0.15377	GPCR, rhodopsin-like superfamily (1);	0.907354	0.09072	N	0.852674	T	0.35653	0.0939	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30909	-0.9962	10	0.05721	T	0.95	.	0.8019	0.01077	0.1892:0.2374:0.3346:0.2388	.	301	Q15761	NPY5R_HUMAN	K	301	ENSP00000339377:E301K;ENSP00000423917:E301K;ENSP00000423474:E301K	ENSP00000339377:E301K	E	+	1	0	NPY5R	164491776	0.000000	0.05858	0.197000	0.23402	0.346000	0.29079	0.343000	0.19944	0.177000	0.19895	-0.373000	0.07131	GAA		0.428	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
TKTL2	84076	hgsc.bcm.edu	37	4	164394568	164394568	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:164394568C>A	ENST00000280605.3	-	1	479	c.319G>T	c.(319-321)Gac>Tac	p.D107Y		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	107						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTCTCCAAGTCGCTGTGAAGT	0.542																																																	0			4											128.0	97.0	107.0					4																	164394568		2203	4300	6503	164614018	SO:0001583	missense	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.319G>T	4.37:g.164394568C>A	ENSP00000280605:p.Asp107Tyr		164614018	A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746987	0.30955	.	.	ENSG00000151005	ENST00000280605	T	0.21734	1.99	4.26	1.53	0.23141	Transketolase, N-terminal (1);	0.062570	0.64402	D	0.000010	T	0.35219	0.0924	M	0.63208	1.945	0.51012	D	0.999904	D	0.71674	0.998	D	0.71184	0.972	T	0.05305	-1.0893	10	0.62326	D	0.03	-4.4881	5.7769	0.18283	0.0:0.6495:0.1627:0.1878	.	107	Q9H0I9	TKTL2_HUMAN	Y	107	ENSP00000280605:D107Y	ENSP00000280605:D107Y	D	-	1	0	TKTL2	164614018	0.977000	0.34250	0.000000	0.03702	0.338000	0.28826	1.332000	0.33805	0.310000	0.22990	0.561000	0.74099	GAC		0.542	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
ALK	238	hgsc.bcm.edu	37	2	29519893	29519893	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:29519893A>G	ENST00000389048.3	-	9	2584	c.1678T>C	c.(1678-1680)Ttg>Ctg	p.L560L	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'UTR	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	560	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.		L -> F (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTTCCCCTCAAGACTCCACGA	0.542			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0			2											128.0	103.0	112.0					2																	29519893		2203	4300	6503	29373397	SO:0001819	synonymous_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1678T>C	2.37:g.29519893A>G			29373397	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.542	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
EIF2AK2	5610	hgsc.bcm.edu	37	2	37374945	37374945	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:37374945G>T	ENST00000233057.4	-	3	327	c.5C>A	c.(4-6)gCt>gAt	p.A2D	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.A2D|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.A2D	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	2					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.A2G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGATCACCAGCCATTTCTTC	0.403																																																	1	Substitution - Missense(1)	ovary(1)	2											97.0	100.0	99.0					2																	37374945		2203	4300	6503	37228449	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.5C>A	2.37:g.37374945G>T	ENSP00000233057:p.Ala2Asp		37228449	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155562	0.38021	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	T;T;T	0.80304	-1.14;-1.14;-1.36	5.32	3.46	0.39613	.	0.377447	0.22605	N	0.057911	D	0.85927	0.5811	L	0.52905	1.665	0.34413	D	0.69656	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	D	0.88891	0.3346	10	0.87932	D	0	-1.7891	11.0115	0.47665	0.0:0.0:0.6616:0.3384	.	2;2;2;2	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	D	2	ENSP00000233057:A2D;ENSP00000378559:A2D;ENSP00000385014:A2D	ENSP00000233057:A2D	A	-	2	0	EIF2AK2	37228449	0.964000	0.33143	0.664000	0.29753	0.056000	0.15407	1.681000	0.37618	0.684000	0.31448	0.650000	0.86243	GCT		0.403	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759	
MSH2	4436	hgsc.bcm.edu	37	2	47690183	47690183	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:47690183A>G	ENST00000233146.2	+	9	1623	c.1400A>G	c.(1399-1401)gAa>gGa	p.E467G	MSH2_ENST00000543555.1_Missense_Mutation_p.E401G|MSH2_ENST00000406134.1_Missense_Mutation_p.E467G	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	467					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAACCATGAATTCCTTGTA	0.318			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	2											74.0	74.0	74.0					2																	47690183		2203	4300	6503	47543687	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1400A>G	2.37:g.47690183A>G	ENSP00000233146:p.Glu467Gly		47543687	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	A	19.66	3.868864	0.72065	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	D;D;D	0.87256	-2.23;-2.23;-2.23	5.4	4.21	0.49690	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.99;0.986;0.995	D	0.93689	0.7005	10	0.87932	D	0	-24.2812	12.3126	0.54938	0.8583:0.1417:0.0:0.0	.	401;467;467	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	G	467;401;467;467;467;467;117;253	ENSP00000233146:E467G;ENSP00000442697:E401G;ENSP00000384199:E467G	ENSP00000233146:E467G	E	+	2	0	MSH2	47543687	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.647000	0.91057	0.854000	0.35336	0.383000	0.25322	GAA		0.318	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
NRXN1	9378	hgsc.bcm.edu	37	2	51254920	51254920	+	Silent	SNP	G	G	T	rs201180707		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:51254920G>T	ENST00000406316.2	-	2	1968	c.492C>A	c.(490-492)gcC>gcA	p.A164A	NRXN1_ENST00000405581.1_Silent_p.A164A|NRXN1_ENST00000406859.3_Silent_p.A164A|NRXN1_ENST00000404971.1_Silent_p.A164A|NRXN1_ENST00000401669.2_Silent_p.A164A|NRXN1_ENST00000402717.3_Silent_p.A164A|NRXN1_ENST00000405472.3_Silent_p.A164A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	164	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAGCGCCGCGGCGCGCAGTT	0.677																																																	0			2											21.0	27.0	25.0					2																	51254920		2066	4201	6267	51108424	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.492C>A	2.37:g.51254920G>T			51108424	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
CCDC88A	55704	hgsc.bcm.edu	37	2	55536106	55536106	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:55536106T>C	ENST00000436346.1	-	25	5067	c.4226A>G	c.(4225-4227)gAt>gGt	p.D1409G	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1408G|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1409G|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1408G|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D32G	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1409					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.D1409G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCGATTAATATCTTTCTTAGA	0.353																																																	1	Substitution - Missense(1)	ovary(1)	2											90.0	89.0	89.0					2																	55536106		2203	4300	6503	55389610	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4226A>G	2.37:g.55536106T>C	ENSP00000410608:p.Asp1409Gly		55389610	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.64|16.64	3.180626|3.180626	0.57800|0.57800	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458	T;T;T;T;T;T|.	0.45276|.	2.47;2.7;2.7;0.9;2.48;1.43|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.49305|.	U|.	0.000143|.	T|T	0.55033|0.55033	0.1895|0.1895	L|L	0.44542|0.44542	1.39|1.39	0.34414|0.34414	D|D	0.696689|0.696689	B;P;B;P;B;P;P|.	0.48162|.	0.325;0.493;0.361;0.906;0.177;0.493;0.493|.	B;B;B;B;B;B;B|.	0.43386|.	0.275;0.234;0.118;0.418;0.141;0.234;0.234|.	T|T	0.64976|0.64976	-0.6280|-0.6280	10|5	0.66056|.	D|.	0.02|.	-12.3101|-12.3101	14.5506|14.5506	0.68065|0.68065	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1408;1409;1354;32;1409;1408;1408|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;.;GRDN_HUMAN;.;.|.	G|V	1408;1409;1409;32;454;1408;584|34	ENSP00000338728:D1408G;ENSP00000263630:D1409G;ENSP00000410608:D1409G;ENSP00000390012:D454G;ENSP00000404431:D1408G;ENSP00000405080:D584G|.	ENSP00000263630:D1409G|.	D|I	-|-	2|1	0|0	CCDC88A|CCDC88A	55389610|55389610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.828000|5.828000	0.69307|0.69307	1.890000|1.890000	0.54733|0.54733	0.482000|0.482000	0.46254|0.46254	GAT|ATA		0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
DYSF	8291	hgsc.bcm.edu	37	2	71795140	71795140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:71795140G>A	ENST00000258104.3	+	25	2848	c.2571G>A	c.(2569-2571)tgG>tgA	p.W857*	DYSF_ENST00000409366.1_Nonsense_Mutation_p.W858*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W858*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W889*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W875*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W875*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W888*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W857*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W874*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W874*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W844*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	857					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCAAGCTGTGGTTTGGGCTCT	0.572																																																	0			2											163.0	150.0	154.0					2																	71795140		2203	4300	6503	71648648	SO:0001587	stop_gained	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2571G>A	2.37:g.71795140G>A	ENSP00000258104:p.Trp857*		71648648	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	44	10.652870	0.99445	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.97	4.06	0.47325	.	0.147984	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6246	12.8666	0.57944	0.0:0.1654:0.8346:0.0	.	.	.	.	X	888;874;874;857;857;889;858;844;858;875;875	.	ENSP00000258104:W857X	W	+	3	0	DYSF	71648648	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.869000	0.99810	1.046000	0.40249	0.549000	0.68633	TGG		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
TCF7L1	83439	hgsc.bcm.edu	37	2	85532500	85532500	+	Silent	SNP	C	C	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:85532500C>A	ENST00000282111.3	+	8	1238	c.963C>A	c.(961-963)ccC>ccA	p.P321P		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	321	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						AACCGGCACCCCCCAGCCTGA	0.662																																																	0			2											46.0	45.0	45.0					2																	85532500		2203	4300	6503	85386011	SO:0001819	synonymous_variant	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.963C>A	2.37:g.85532500C>A			85386011	Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	CCDS1971.1																																																																																				0.662	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283	
SNRNP200	23020	hgsc.bcm.edu	37	2	96944664	96944664	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:96944664A>G	ENST00000323853.5	-	37	5283	c.5206T>C	c.(5206-5208)Ttc>Ctc	p.F1736L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1736	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.		F -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCAGCATTGAAGTGGTCATGC	0.488																																																	0			2											138.0	120.0	126.0					2																	96944664		2203	4300	6503	96308391	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5206T>C	2.37:g.96944664A>G	ENSP00000317123:p.Phe1736Leu		96308391	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143590	0.57044	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.34275	1.37	5.58	4.35	0.52113	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	N	0.21142	0.635	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.04781	-1.0927	10	0.35671	T	0.21	-19.9737	11.7332	0.51750	0.8528:0.1472:0.0:0.0	.	1736	O75643	U520_HUMAN	L	1736;195;319	ENSP00000317123:F1736L	ENSP00000317123:F1736L	F	-	1	0	SNRNP200	96308391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.516000	0.67055	2.246000	0.74042	0.533000	0.62120	TTC		0.488	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
IL18R1	8809	hgsc.bcm.edu	37	2	102984374	102984374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:102984374G>T	ENST00000409599.1	+	4	504	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	IL18R1_ENST00000233957.1_Nonsense_Mutation_p.E50*|IL18R1_ENST00000334376.3_Nonsense_Mutation_p.E50*			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	50	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.E50K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACATGAGATTGAAACAACCAC	0.428																																																	1	Substitution - Missense(1)	ovary(1)	2											127.0	119.0	122.0					2																	102984374		2203	4300	6503	102350806	SO:0001587	stop_gained	8809			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.148G>T	2.37:g.102984374G>T	ENSP00000387211:p.Glu50*		102350806	B2R9Y5|Q52LC9	Nonsense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758981	0.89843	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	.	.	.	5.23	-2.35	0.06684	.	1.535540	0.03512	N	0.219759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	1.1998	0.01882	0.4375:0.1533:0.2534:0.1558	.	.	.	.	X	50	.	ENSP00000233957:E50X	E	+	1	0	IL18R1	102350806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.520000	0.06252	-0.265000	0.09352	0.563000	0.77884	GAA		0.428	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
KCNH7	90134	hgsc.bcm.edu	37	2	163302673	163302673	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:163302673A>G	ENST00000332142.5	-	7	1508	c.1409T>C	c.(1408-1410)tTc>tCc	p.F470S	KCNH7_ENST00000328032.4_Missense_Mutation_p.F463S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	470					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)	p.F470C(1)		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)	TGTTGTTCTGAAGTTTATTAA	0.358																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	ovary(1)	2											99.0	92.0	94.0					2																	163302673		2203	4300	6503	163010919	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.1409T>C	2.37:g.163302673A>G	ENSP00000331727:p.Phe470Ser		163010919	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474598	0.84640	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96011	-3.88;-3.88	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	D	0.99544	1.0964	10	0.87932	D	0	.	15.9661	0.79970	1.0:0.0:0.0:0.0	.	463;470	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	S	470;463	ENSP00000331727:F470S;ENSP00000333781:F463S	ENSP00000333781:F463S	F	-	2	0	KCNH7	163010919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.182000	0.69389	0.528000	0.53228	TTC		0.358	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
TTN	7273	hgsc.bcm.edu	37	2	179406125	179406125	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:179406125C>T	ENST00000591111.1	-	300	92980	c.92756G>A	c.(92755-92757)cGc>cAc	p.R30919H	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23687H|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32560H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29992H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23620H|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23495H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30919	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GCCAGTGGAGCGGTACCGTGT	0.493																																																	0			2											120.0	113.0	115.0					2																	179406125		1961	4157	6118	179114371	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.92756G>A	2.37:g.179406125C>T	ENSP00000465570:p.Arg30919His		179114371	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		.	.	.	.	.	.	.	.	.	.	C	33	5.276394	0.95459	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73118	0.3546	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74512	-0.3641	9	0.87932	D	0	.	19.8706	0.96849	0.0:1.0:0.0:0.0	.	23495;23620;23687;30919	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29992;23495;23687;23620;23492	ENSP00000343764:R29992H;ENSP00000434586:R23495H;ENSP00000340554:R23687H;ENSP00000352154:R23620H	ENSP00000340554:R23687H	R	-	2	0	TTN	179114371	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.814000	0.86154	2.692000	0.91855	0.561000	0.74099	CGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SESTD1	91404	hgsc.bcm.edu	37	2	180008366	180008366	+	Missense_Mutation	SNP	G	G	A	rs144405691		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:180008366G>A	ENST00000428443.3	-	9	1118	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	268							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGCTTGCTACGTTGCCTACAA	0.383																																																	0			2						G	CYS/ARG	0,4406		0,0,2203	161.0	157.0	158.0		802	5.2	1.0	2	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	SESTD1	NM_178123.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	268/697	180008366	1,13005	2203	4300	6503	179716611	SO:0001583	missense	91404			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.802C>T	2.37:g.180008366G>A	ENSP00000415332:p.Arg268Cys		179716611	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745304	0.89663	0.0	1.16E-4	ENSG00000187231	ENST00000428443	T	0.50548	0.74	6.07	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.52793	-0.8528	9	.	.	.	-8.5108	16.5444	0.84410	0.0:0.0:0.8684:0.1316	.	268	Q86VW0	SESD1_HUMAN	C	268	ENSP00000415332:R268C	.	R	-	1	0	SESTD1	179716611	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.164000	0.64954	1.513000	0.48852	0.655000	0.94253	CGT		0.383	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
GLS	2744	hgsc.bcm.edu	37	2	191819355	191819355	+	Silent	SNP	T	T	A	rs1058592		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:191819355T>A	ENST00000320717.3	+	16	2016	c.1758T>A	c.(1756-1758)tcT>tcA	p.S586S	GLS_ENST00000409428.1_Silent_p.S91S	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	586					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	ACTATGATTCTAGAACAGCAC	0.358																																																	0			2											84.0	87.0	86.0					2																	191819355		2203	4300	6503	191527600	SO:0001819	synonymous_variant	27165			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1758T>A	2.37:g.191819355T>A			191527600	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Silent	SNP	ENST00000320717.3	37	CCDS2308.1																																																																																				0.358	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2		
EEF1B2	1933	hgsc.bcm.edu	37	2	207027530	207027530	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:207027530G>C	ENST00000392222.2	+	6	976	c.601G>C	c.(601-603)Gat>Cat	p.D201H	SNORD51_ENST00000384320.2_RNA|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D201H|EEF1B2_ENST00000236957.5_Missense_Mutation_p.D201H	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	201					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGTTGGAACAGATATGCTGGA	0.388																																																	0			2											56.0	57.0	56.0					2																	207027530		2201	4280	6481	206735775	SO:0001583	missense	1933			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.601G>C	2.37:g.207027530G>C	ENSP00000376056:p.Asp201His		206735775	A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139362	0.77775	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	5.2	5.2	0.72013	Translation elongation factor EF1B/ribosomal protein S6 (1);Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange (3);	0.045735	0.85682	D	0.000000	D	0.83658	0.5302	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.86261	0.1655	9	0.87932	D	0	-12.1904	18.7341	0.91748	0.0:0.0:1.0:0.0	.	201	P24534	EF1B_HUMAN	H	201	.	ENSP00000236957:D201H	D	+	1	0	EEF1B2	206735775	1.000000	0.71417	0.980000	0.43619	0.643000	0.38383	9.869000	0.99810	2.435000	0.82474	0.655000	0.94253	GAT		0.388	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663	
UNC80	285175	hgsc.bcm.edu	37	2	210678443	210678443	+	Nonsense_Mutation	SNP	C	C	T	rs200659479		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:210678443C>T	ENST00000439458.1	+	8	1158	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	UNC80_ENST00000272845.6_Nonsense_Mutation_p.R360*	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	360					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ACAAAGGCTGCGACACATGTT	0.547																																																	0			2											116.0	102.0	106.0					2																	210678443		692	1591	2283	210386688	SO:0001587	stop_gained	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.1078C>T	2.37:g.210678443C>T	ENSP00000391088:p.Arg360*		210386688	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Nonsense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139603	0.94560	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	.	.	.	5.46	-2.4	0.06583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7713	19.0	0.92829	0.6697:0.3303:0.0:0.0	.	.	.	.	X	360	.	ENSP00000272845:R360X	R	+	1	2	UNC80	210386688	0.997000	0.39634	0.949000	0.38748	0.588000	0.36517	0.821000	0.27338	-0.260000	0.09418	-0.518000	0.04402	CGA		0.547	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
USP37	57695	hgsc.bcm.edu	37	2	219418412	219418412	+	Silent	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:219418412G>A	ENST00000258399.3	-	5	604	c.192C>T	c.(190-192)ccC>ccT	p.P64P	USP37_ENST00000454775.1_Silent_p.P64P|USP37_ENST00000338465.5_Silent_p.P64P|USP37_ENST00000418019.1_Silent_p.P64P|USP37_ENST00000415516.1_5'UTR	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	64					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCGCTCCACTGGGTCGAAGCA	0.358																																																	0			2											102.0	97.0	99.0					2																	219418412		2203	4300	6503	219126656	SO:0001819	synonymous_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.192C>T	2.37:g.219418412G>A			219126656	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	CCDS2418.1																																																																																				0.358	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	
ASIC4	55515	hgsc.bcm.edu	37	2	220396778	220396778	+	Silent	SNP	G	G	A	rs572070268		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:220396778G>A	ENST00000347842.3	+	3	1178	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Silent_p.P388P	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	388					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										AGGAGGAGCCGCCCTACATCC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0																0			2											81.0	88.0	86.0					2																	220396778		2203	4300	6503	220105022	SO:0001819	synonymous_variant	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1164G>A	2.37:g.220396778G>A			220105022	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	CCDS2442.1																																																																																				0.602	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674	
FAM124B	79843	hgsc.bcm.edu	37	2	225266122	225266122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:225266122G>A	ENST00000409685.3	-	1	629	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	FAM124B_ENST00000243806.2_Nonsense_Mutation_p.Q122*|FAM124B_ENST00000389874.3_Nonsense_Mutation_p.Q122*	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	122								p.Q122*(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATGGGCAGCTGACTGTCCAGG	0.562																																																	1	Substitution - Nonsense(1)	ovary(1)	2											54.0	52.0	53.0					2																	225266122		2203	4300	6503	224974366	SO:0001587	stop_gained	79843			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.364C>T	2.37:g.225266122G>A	ENSP00000386895:p.Gln122*		224974366	A6NNC7|Q8NBZ4|Q8TAV7	Nonsense_Mutation	SNP	ENST00000409685.3	37	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	G	39	7.645591	0.98409	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	.	.	.	5.79	4.9	0.64082	.	0.348682	0.34555	N	0.003861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.2537	16.8416	0.85971	0.0:0.1286:0.8714:0.0	.	.	.	.	X	122	.	ENSP00000243806:Q122X	Q	-	1	0	FAM124B	224974366	1.000000	0.71417	0.923000	0.36655	0.971000	0.66376	4.565000	0.60836	1.426000	0.47256	0.655000	0.94253	CAG		0.562	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785	
COL6A3	1293	hgsc.bcm.edu	37	2	238245107	238245107	+	Missense_Mutation	SNP	G	G	A	rs150907698	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:238245107G>A	ENST00000295550.4	-	40	9088	c.8636C>T	c.(8635-8637)aCg>aTg	p.T2879M	COL6A3_ENST00000472056.1_Missense_Mutation_p.T2272M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2679M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2673M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2678M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2673M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2879	Nonhelical region.|Thr-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTTCGTCGTAGTCACCGG	0.458													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		18430	0.0		0.0	False		,,,				2504	0.001																0			2						G	MET/THR,MET/THR,MET/THR	6,4400	11.4+/-27.6	0,6,2197	165.0	155.0	158.0		8636,6815,8018	3.7	0.2	2	dbSNP_134	158	16,8584	11.9+/-42.8	0,16,4284	yes	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	81,81,81	0,22,6481	AA,AG,GG		0.186,0.1362,0.1692	probably-damaging,probably-damaging,probably-damaging	2879/3178,2272/2571,2673/2972	238245107	22,12984	2203	4300	6503	237909846	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8636C>T	2.37:g.238245107G>A	ENSP00000295550:p.Thr2879Met		237909846	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	1.784	-0.481114	0.04383	0.001362	0.00186	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.89343	-2.5;-2.48;-2.47;-2.46;-2.47;-2.46	3.68	3.68	0.42216	.	.	.	.	.	D	0.92828	0.7719	M	0.78049	2.395	0.09310	N	0.999992	D;D;D	0.89917	0.999;1.0;0.999	P;P;P	0.60886	0.761;0.88;0.761	D	0.85291	0.1067	9	0.87932	D	0	.	11.2673	0.49118	0.0:0.0:1.0:0.0	.	2272;2673;2879	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	2879;2678;2673;2272;2673;2679	ENSP00000295550:T2879M;ENSP00000315609:T2678M;ENSP00000315873:T2673M;ENSP00000418285:T2272M;ENSP00000386844:T2673M;ENSP00000295546:T2679M	ENSP00000295550:T2879M	T	-	2	0	COL6A3	237909846	0.962000	0.33011	0.178000	0.23040	0.016000	0.09150	3.023000	0.49666	1.749000	0.51849	0.563000	0.77884	ACG		0.458	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
RANBP6	26953	hgsc.bcm.edu	37	9	6015511	6015511	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:6015511C>T	ENST00000259569.5	-	1	107	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	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	33					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				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)		TGCCTCCGCACCATACAGCTT	0.502																																																	0			9											80.0	86.0	84.0					9																	6015511		2203	4300	6503	6005511	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.97G>A	9.37:g.6015511C>T	ENSP00000259569:p.Val33Met		6005511	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119300	0.56505	.	.	ENSG00000137040	ENST00000259569	T	0.73258	-0.73	4.54	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.146513	0.45606	D	0.000359	T	0.72795	0.3505	L	0.55481	1.735	0.45899	D	0.99874	P	0.48640	0.913	P	0.52514	0.701	T	0.73600	-0.3931	10	0.48119	T	0.1	-3.4988	11.0944	0.48134	0.0:0.9087:0.0:0.0913	.	33	O60518	RNBP6_HUMAN	M	33	ENSP00000259569:V33M	ENSP00000259569:V33M	V	-	1	0	RANBP6	6005511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.048000	0.49862	1.515000	0.48885	0.561000	0.74099	GTG		0.502	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
GNA14	9630	hgsc.bcm.edu	37	9	80039058	80039058	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:80039058C>T	ENST00000341700.6	-	7	1418	c.905G>A	c.(904-906)aGa>aAa	p.R302K	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R302K(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GATAAAGTCTCTGGCAGCTCT	0.408																																																	1	Substitution - Missense(1)	ovary(1)	9											141.0	133.0	136.0					9																	80039058		2203	4300	6503	79228878	SO:0001583	missense	9630			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.905G>A	9.37:g.80039058C>T	ENSP00000365807:p.Arg302Lys		79228878	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251015	0.39797	.	.	ENSG00000156049	ENST00000341700	D	0.87809	-2.3	6.07	6.07	0.98685	.	0.090958	0.85682	D	0.000000	T	0.79046	0.4380	N	0.17838	0.53	0.33830	D	0.630088	B	0.06786	0.001	B	0.15870	0.014	T	0.77443	-0.2586	10	0.30854	T	0.27	.	14.418	0.67163	0.0:0.9293:0.0:0.0707	.	302	O95837	GNA14_HUMAN	K	302	ENSP00000365807:R302K	ENSP00000365807:R302K	R	-	2	0	GNA14	79228878	0.439000	0.25610	1.000000	0.80357	0.997000	0.91878	0.864000	0.27926	2.884000	0.98904	0.655000	0.94253	AGA		0.408	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
SLC28A3	64078	hgsc.bcm.edu	37	9	86903016	86903016	+	Silent	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:86903016A>G	ENST00000376238.4	-	12	1276	c.1227T>C	c.(1225-1227)ccT>ccC	p.P409P	SLC28A3_ENST00000537648.1_Silent_p.P340P|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	409					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TTTCTGTCTCAGGCCAAAAGA	0.453																																					Ovarian(106;425 1539 34835 42413 43572)												0			9											155.0	160.0	158.0					9																	86903016		2203	4300	6503	86092836	SO:0001819	synonymous_variant	64078			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1227T>C	9.37:g.86903016A>G			86092836	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	CCDS6670.1																																																																																				0.453	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
ECM2	1842	hgsc.bcm.edu	37	9	95285114	95285114	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:95285114A>G	ENST00000344604.5	-	2	184	c.35T>C	c.(34-36)cTt>cCt	p.L12P	ECM2_ENST00000375540.1_Missense_Mutation_p.L12P|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.L12P	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	12					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAAAATGATAAGCAGAAAAAA	0.333																																																	0			9											46.0	49.0	48.0					9																	95285114		2202	4300	6502	94324935	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.35T>C	9.37:g.95285114A>G	ENSP00000344758:p.Leu12Pro		94324935	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729281	0.69074	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.28	4.28	0.50868	.	0.303544	0.27340	N	0.019818	T	0.42063	0.1186	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	D;P;P;D	0.66351	0.909;0.831;0.831;0.943	T	0.39800	-0.9596	10	0.87932	D	0	.	13.5504	0.61728	1.0:0.0:0.0:0.0	.	12;12;12;12	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	P	12	ENSP00000393971:L12P;ENSP00000344758:L12P;ENSP00000364690:L12P;ENSP00000378905:L12P	ENSP00000344758:L12P	L	-	2	0	ECM2	94324935	1.000000	0.71417	0.602000	0.28890	0.943000	0.58893	5.725000	0.68507	1.948000	0.56530	0.528000	0.53228	CTT		0.333	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
PTCH1	5727	hgsc.bcm.edu	37	9	98211430	98211430	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:98211430T>C	ENST00000331920.6	-	22	4024	c.3725A>G	c.(3724-3726)gAg>gGg	p.E1242G	PTCH1_ENST00000418258.1_Missense_Mutation_p.E1091G|PTCH1_ENST00000429896.2_Missense_Mutation_p.E1091G|PTCH1_ENST00000375274.2_Missense_Mutation_p.E1241G|PTCH1_ENST00000421141.1_Missense_Mutation_p.E1091G|PTCH1_ENST00000437951.1_Missense_Mutation_p.E1176G|PTCH1_ENST00000430669.2_Missense_Mutation_p.E1176G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1242			E -> K (in squamous cell carcinoma). {ECO:0000269|PubMed:11286632}.		brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|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 (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTGCTGGGCCTCGTAGTGCCG	0.627																																																	0			9											28.0	29.0	28.0					9																	98211430		2203	4300	6503	97251251	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3725A>G	9.37:g.98211430T>C	ENSP00000332353:p.Glu1242Gly		97251251	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251085	0.22880	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90844	-2.74;-2.73;-2.72;-2.72;-2.73;-2.72;-2.74	5.89	4.76	0.60689	.	0.413534	0.29239	N	0.012727	D	0.87059	0.6083	L	0.51422	1.61	0.36425	D	0.864542	B;B;B	0.25904	0.034;0.137;0.085	B;B;B	0.25140	0.025;0.058;0.026	D	0.87463	0.2409	10	0.49607	T	0.09	-18.1029	11.3938	0.49830	0.0:0.0702:0.0:0.9297	.	1176;1241;1242	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	G	1242;1176;1091;1091;1176;34;1091;1241	ENSP00000332353:E1242G;ENSP00000389744:E1176G;ENSP00000399981:E1091G;ENSP00000396135:E1091G;ENSP00000410287:E1176G;ENSP00000414823:E1091G;ENSP00000364423:E1241G	ENSP00000332353:E1242G	E	-	2	0	PTCH1	97251251	1.000000	0.71417	0.591000	0.28745	0.111000	0.19643	3.222000	0.51223	2.250000	0.74265	0.533000	0.62120	GAG		0.627	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
LRRC8A	56262	hgsc.bcm.edu	37	9	131670815	131670815	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:131670815G>T	ENST00000259324.5	+	3	1895	c.1372G>T	c.(1372-1374)Gac>Tac	p.D458Y	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D458Y|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D458Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	458					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCTGATCCCCGACGTGACCAT	0.622																																																	0			9											24.0	23.0	24.0					9																	131670815		2203	4297	6500	130710636	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1372G>T	9.37:g.131670815G>T	ENSP00000259324:p.Asp458Tyr		130710636	Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224303	0.58668	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.23950	1.88;1.88;1.88	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.06752	-1.0809	10	0.34782	T	0.22	.	18.4034	0.90525	0.0:0.0:1.0:0.0	.	458	Q8IWT6	LRC8A_HUMAN	Y	458	ENSP00000361682:D458Y;ENSP00000361680:D458Y;ENSP00000259324:D458Y	ENSP00000259324:D458Y	D	+	1	0	LRRC8A	130710636	1.000000	0.71417	0.943000	0.38184	0.900000	0.52787	9.869000	0.99810	2.595000	0.87683	0.561000	0.74099	GAC		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594	
BRD3	8019	hgsc.bcm.edu	37	9	136905313	136905313	+	Missense_Mutation	SNP	C	C	T	rs202054855		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:136905313C>T	ENST00000303407.7	-	9	1671	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	BRD3_ENST00000357885.2_Missense_Mutation_p.E496K|BRD3_ENST00000371834.2_Missense_Mutation_p.E496K|BRD3_ENST00000473349.1_Intron	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	496	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ttctccttctccttcttctcc	0.557			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0			9											54.0	36.0	42.0					9																	136905313		2196	4294	6490	135895134	SO:0001583	missense	8019				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1486G>A	9.37:g.136905313C>T	ENSP00000305918:p.Glu496Lys		135895134	B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286555	0.40494	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.32753	1.44;1.44;1.44	4.71	3.81	0.43845	.	0.317725	0.27764	N	0.017941	T	0.10252	0.0251	N	0.01168	-0.975	0.48395	D	0.999644	P;B	0.37330	0.59;0.319	B;B	0.38500	0.275;0.023	T	0.23511	-1.0186	10	0.02654	T	1	-9.7665	12.1789	0.54202	0.0:0.9156:0.0:0.0844	.	496;496	Q15059-2;Q15059	.;BRD3_HUMAN	K	496;175;496;496	ENSP00000305918:E496K;ENSP00000360900:E496K;ENSP00000350557:E496K	ENSP00000305918:E496K	E	-	1	0	BRD3	135895134	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	7.482000	0.81143	1.099000	0.41499	0.561000	0.74099	GAG		0.557	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371	
TUBB4B	10383	hgsc.bcm.edu	37	9	140137892	140137892	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr9:140137892T>C	ENST00000340384.4	+	4	1370	c.1222T>C	c.(1222-1224)Ttc>Ctc	p.F408L		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	408					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.F408I(1)								Albendazole(DB00518)|Mebendazole(DB00643)	CGAGATGGAGTTCACCGAGGC	0.617																																																	1	Substitution - Missense(1)	ovary(1)	9											101.0	98.0	99.0					9																	140137892		2203	4297	6500	139257713	SO:0001583	missense	10383			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1222T>C	9.37:g.140137892T>C	ENSP00000341289:p.Phe408Leu		139257713	A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852037	0.71719	.	.	ENSG00000188229	ENST00000340384	D	0.86694	-2.16	5.57	5.57	0.84162	.	0.062592	0.64402	N	0.000006	D	0.94857	0.8338	M	0.92691	3.335	0.58432	D	0.999998	D	0.71674	0.998	D	0.85130	0.997	D	0.95892	0.8908	10	0.87932	D	0	.	14.5794	0.68274	0.0:0.0:0.0:1.0	.	408	P68371	TBB4B_HUMAN	L	408	ENSP00000341289:F408L	ENSP00000341289:F408L	F	+	1	0	TUBB2C	139257713	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.152000	0.71812	2.122000	0.65172	0.533000	0.62120	TTC		0.617	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088	
PABPC3	5042	hgsc.bcm.edu	37	13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T	rs113416318	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491																0			13																																								24569795	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys		24569795	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
WDR37	22884	hgsc.bcm.edu	37	10	1130478	1130478	+	Splice_Site	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr10:1130478G>A	ENST00000358220.1	+	6	676	c.532G>A	c.(532-534)Gat>Aat	p.D178N	WDR37_ENST00000263150.4_Splice_Site_p.D178N|WDR37_ENST00000381329.1_Splice_Site_p.D178N			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	178										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGCATCAGCCGGTGAGTCGCA	0.602																																																	0			10											60.0	55.0	57.0					10																	1130478		2203	4300	6503	1120478	SO:0001630	splice_region_variant	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.532+1G>A	10.37:g.1130478G>A			1120478	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420664	0.83559	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	0.996;0.999;1.0	P;P;D	0.69142	0.767;0.845;0.962	D	0.98294	1.0515	10	0.72032	D	0.01	.	19.4706	0.94962	0.0:0.0:1.0:0.0	.	178;178;178	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	N	178;178;178;145	ENSP00000350954:D178N;ENSP00000370730:D178N;ENSP00000263150:D178N;ENSP00000404346:D145N	ENSP00000263150:D178N	D	+	1	0	WDR37	1120478	1.000000	0.71417	0.999000	0.59377	0.031000	0.12232	8.991000	0.93514	2.689000	0.91719	0.650000	0.86243	GAT		0.602	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023	Missense_Mutation
RET	5979	hgsc.bcm.edu	37	10	43623706	43623706	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr10:43623706T>C	ENST00000355710.3	+	20	3566	c.3334T>C	c.(3334-3336)Ttt>Ctt	p.F1112L		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1112			F -> Y (in a bladder transitional cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AATGGACACGTTTGATAGTTA	0.423		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			10											120.0	108.0	112.0					10																	43623706		2203	4300	6503	42943712	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3334T>C	10.37:g.43623706T>C	ENSP00000347942:p.Phe1112Leu		42943712	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818388	0.32145	.	.	ENSG00000165731	ENST00000355710	T	0.75589	-0.95	5.72	4.58	0.56647	.	0.221862	0.48767	D	0.000179	T	0.59918	0.2229	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.52373	-0.8584	10	0.32370	T	0.25	.	13.1087	0.59261	0.0:0.0:0.1339:0.8661	.	1112	P07949	RET_HUMAN	L	1112	ENSP00000347942:F1112L	ENSP00000347942:F1112L	F	+	1	0	RET	42943712	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	1.735000	0.38176	0.984000	0.38629	-0.418000	0.06021	TTT		0.423	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
AGAP4	119016	hgsc.bcm.edu	37	10	46321476	46321476	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr10:46321476C>T	ENST00000448048.2	-	7	2004	c.1879G>A	c.(1879-1881)Gtc>Atc	p.V627I	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	627					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V627I(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						CGGGCCATGACGTCCACCCCG	0.672																																																	1	Substitution - Missense(1)	ovary(1)	10											1.0	1.0	1.0					10																	46321476		214	382	596	45641482	SO:0001583	missense	119016			AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1879G>A	10.37:g.46321476C>T	ENSP00000392513:p.Val627Ile		45641482		Missense_Mutation	SNP	ENST00000448048.2	37	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	c	2.318	-0.356320	0.05138	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.65916	-0.18	.	.	.	Ankyrin repeat-containing domain (4);	0.223555	0.38436	N	0.001698	T	0.39306	0.1073	N	0.17922	0.545	0.24802	N	0.992697	B;B	0.12630	0.006;0.003	B;B	0.16289	0.015;0.01	T	0.15263	-1.0443	9	0.33141	T	0.24	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	650;627	C9JRW4;Q96P64	.;AGAP4_HUMAN	I	627;403	ENSP00000392513:V627I	ENSP00000343438:V403I	V	-	1	0	AGAP4	45641482	0.956000	0.32656	0.271000	0.24616	0.274000	0.26718	0.179000	0.16840	0.107000	0.17824	0.109000	0.15622	GTC		0.672	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446	
CTNNA3	29119	hgsc.bcm.edu	37	10	68940231	68940231	+	Silent	SNP	T	T	C	rs564004112		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr10:68940231T>C	ENST00000433211.2	-	7	1065	c.891A>G	c.(889-891)cgA>cgG	p.R297R	CTNNA3_ENST00000545309.1_Silent_p.R297R|CTNNA3_ENST00000373744.4_Silent_p.R297R	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTAGTGATGGTCGTATTTCCT	0.448																																																	0			10											147.0	133.0	138.0					10																	68940231		2203	4300	6503	68610237	SO:0001819	synonymous_variant	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.891A>G	10.37:g.68940231T>C			68610237		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.448	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
PTEN	5728	hgsc.bcm.edu	37	10	89720772	89720772	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr10:89720772G>A	ENST00000371953.3	+	8	2280	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	308	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.R55fs*1(5)|p.R308fs*9(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R308fs*3(1)|p.W274_F341del(1)|p.R308fs*7(1)|p.R308fs*4(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)		AGTATAGAGCGTGCAGATAAT	0.338		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"""	57	Whole gene deletion(37)|Deletion - Frameshift(15)|Deletion - In frame(2)|Unknown(2)|Insertion - Frameshift(1)	prostate(16)|central_nervous_system(12)|endometrium(6)|skin(6)|lung(4)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|urinary_tract(2)|soft_tissue(1)	10											105.0	102.0	103.0					10																	89720772		2203	4299	6502	89710752	SO:0001583	missense	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.923G>A	10.37:g.89720772G>A	ENSP00000361021:p.Arg308His		89710752	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798663	0.70567	.	.	ENSG00000171862	ENST00000371953	D	0.94537	-3.45	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.167826	0.53938	D	0.000054	D	0.91050	0.7184	L	0.38175	1.15	0.58432	D	0.999999	B	0.13145	0.007	B	0.08055	0.003	D	0.87089	0.2171	9	.	.	.	-1.1912	18.5632	0.91108	0.0:0.0:1.0:0.0	.	308	P60484	PTEN_HUMAN	H	308	ENSP00000361021:R308H	.	R	+	2	0	PTEN	89710752	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.647000	0.74354	2.399000	0.81585	0.591000	0.81541	CGT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CFAP43	80217	hgsc.bcm.edu	37	10	105920864	105920864	+	Silent	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr10:105920864T>C	ENST00000357060.3	-	27	3586	c.3471A>G	c.(3469-3471)gaA>gaG	p.E1157E	WDR96_ENST00000428666.1_Silent_p.E1158E	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATTGTTTTCTTTCTTCTTCAG	0.323																																																	0			10											111.0	102.0	105.0					10																	105920864		2203	4299	6502	105910854	SO:0001819	synonymous_variant	80217																														ENST00000357060.3:c.3471A>G	10.37:g.105920864T>C			105910854		Silent	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	T	8.932	0.963616	0.18583	.	.	ENSG00000197748	ENST00000457071;ENST00000434629	.	.	.	5.69	4.56	0.56223	.	.	.	.	.	T	0.59838	0.2223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56335	-0.7996	4	.	.	.	.	9.2713	0.37673	0.0:0.1471:0.0:0.8529	.	.	.	.	R	6;518	.	.	K	-	2	0	WDR96	105910854	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.109000	0.31135	0.986000	0.38683	0.533000	0.62120	AAA		0.323	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TERT	7015	hgsc.bcm.edu	37	5	1253913	1253913	+	Missense_Mutation	SNP	G	G	A	rs199422306		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:1253913G>A	ENST00000310581.5	-	16	3386	c.3329C>T	c.(3328-3330)aCg>aTg	p.T1110M	TERT_ENST00000334602.6_Missense_Mutation_p.T1047M|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1110	CTE.		T -> M (in idiopathic pulmonary fibrosis susceptibility; impaired telomerase activity). {ECO:0000269|PubMed:17392301}.		DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	AGTCAGCGTCGTCCCCGGGAG	0.657									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0			5	GRCh37	CM072077	TERT	M							23.0	32.0	28.0					5																	1253913		2182	4261	6443	1306913	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3329C>T	5.37:g.1253913G>A	ENSP00000309572:p.Thr1110Met		1306913	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	10.34	1.323502	0.24080	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.96587	-4.06;-3.97	3.83	2.0	0.26442	.	0.947994	0.08865	N	0.882461	D	0.90689	0.7079	L	0.29908	0.895	0.09310	A	2.39116e-07	P;D	0.53619	0.929;0.961	B;B	0.37601	0.202;0.254	D	0.86117	0.1566	9	0.46703	T	0.11	-9.6301	5.2556	0.15546	0.1162:0.2098:0.6741:0.0	.	1047;1110	O14746-3;O14746	.;TERT_HUMAN	M	1110;1047	ENSP00000309572:T1110M;ENSP00000334346:T1047M	ENSP00000309572:T1110M	T	-	2	0	TERT	1306913	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.012000	0.12699	0.390000	0.25115	0.561000	0.74099	ACG		0.657	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
TERT	7015	hgsc.bcm.edu	37	5	1293484	1293484	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:1293484T>C	ENST00000310581.5	-	2	1574	c.1517A>G	c.(1516-1518)cAg>cGg	p.Q506R	TERT_ENST00000508104.2_Missense_Mutation_p.Q506R|TERT_ENST00000334602.6_Missense_Mutation_p.Q506R|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000296820.5_Missense_Mutation_p.Q506R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	506	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CGTCAGCTCCTGCAGCGAGAG	0.657									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0			5											52.0	51.0	51.0					5																	1293484		2202	4300	6502	1346484	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1517A>G	5.37:g.1293484T>C	ENSP00000309572:p.Gln506Arg		1346484	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.386745	0.01194	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	4.47	-1.08	0.09936	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.606170	0.16981	N	0.191720	T	0.67674	0.2918	N	0.25286	0.73	0.09310	N	1	B;B;B	0.13145	0.002;0.002;0.007	B;B;B	0.17433	0.007;0.014;0.018	T	0.50171	-0.8859	10	0.20046	T	0.44	-14.7581	2.6866	0.05109	0.1123:0.2681:0.1143:0.5053	.	506;506;506	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	R	506	ENSP00000309572:Q506R;ENSP00000296820:Q506R;ENSP00000334346:Q506R;ENSP00000426042:Q506R	ENSP00000296820:Q506R	Q	-	2	0	TERT	1346484	0.029000	0.19370	0.025000	0.17156	0.008000	0.06430	-0.464000	0.06688	-0.488000	0.06726	-1.489000	0.00976	CAG		0.657	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2		
APC	324	hgsc.bcm.edu	37	5	112175696	112175696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:112175696C>T	ENST00000457016.1	+	16	4785	c.4405C>T	c.(4405-4407)Caa>Taa	p.Q1469*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1469*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1469*			P25054	APC_HUMAN	adenomatous polyposis coli	1469	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.Q1469*(6)|p.A1470fs*17(1)|p.K1454fs*3(1)|p.K1192fs*3(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)		TGGACCTAAGCAAGCTGCAGT	0.438		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"""	10	Substitution - Nonsense(6)|Unknown(1)|Complex - frameshift(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	large_intestine(6)|soft_tissue(2)|thyroid(1)|skin(1)	5											81.0	78.0	79.0					5																	112175696		2202	4300	6502	112203595	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.4405C>T	5.37:g.112175696C>T	ENSP00000413133:p.Gln1469*		112203595	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.347607	0.98772	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	6.16	0.99307	.	0.300318	0.37530	N	0.002053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.1458	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1469	.	.	Q	+	1	0	APC	112203595	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	6.223000	0.72257	2.937000	0.99478	0.650000	0.86243	CAA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
JADE2	23338	hgsc.bcm.edu	37	5	133900193	133900193	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:133900193G>A	ENST00000402835.1	+	8	1117	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	PHF15_ENST00000361895.2_Missense_Mutation_p.G288S|PHF15_ENST00000395003.1_Missense_Mutation_p.G288S|PHF15_ENST00000282605.4_Missense_Mutation_p.G288S																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCAGCATCGGCTGCCCAGA	0.597																																																	0			5											43.0	36.0	39.0					5																	133900193		2203	4297	6500	133928092	SO:0001583	missense	23338																														ENST00000402835.1:c.862G>A	5.37:g.133900193G>A	ENSP00000384671:p.Gly288Ser		133928092		Missense_Mutation	SNP	ENST00000402835.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.410597	0.96072	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.995;0.988;0.995	D;D;D;P;D	0.75484	0.984;0.986;0.953;0.815;0.953	T	0.06917	-1.0800	10	0.72032	D	0.01	.	19.3177	0.94223	0.0:0.0:1.0:0.0	.	288;288;288;288;304	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	S	288;304;288;288;288;288;288	ENSP00000282605:G288S;ENSP00000354425:G288S;ENSP00000384671:G288S;ENSP00000378451:G288S	ENSP00000282605:G288S	G	+	1	0	PHF15	133928092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	2.554000	0.86153	0.655000	0.94253	GGC		0.597	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		
PCDHA9	9752	hgsc.bcm.edu	37	5	140230003	140230003	+	Silent	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:140230003C>T	ENST00000532602.1	+	1	2956	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.D641D|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGAAACGGACGCACCGCGCC	0.682																																					Melanoma(55;1800 1972 14909)												0			5											59.0	61.0	60.0					5																	140230003		2197	4272	6469	140210187	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1923C>T	5.37:g.140230003C>T			140210187	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA10	56139	hgsc.bcm.edu	37	5	140236912	140236912	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:140236912C>T	ENST00000307360.5	+	1	1279	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647																																																	0			5											107.0	103.0	104.0					5																	140236912		2197	4274	6471	140217096	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1279C>T	5.37:g.140236912C>T	ENSP00000304234:p.Arg427Trp		140217096	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	c	1.577	-0.532706	0.04112	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54866	4.63;0.55	3.96	-3.24	0.05094	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.29158	0.0725	N	0.25825	0.765	0.09310	N	1	P;P;B	0.41748	0.761;0.589;0.048	B;B;B	0.34779	0.189;0.16;0.052	T	0.19549	-1.0302	9	0.87932	D	0	.	2.8682	0.05608	0.4522:0.2977:0.1017:0.1485	.	427;427;427	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	W	427	ENSP00000421030:R427W;ENSP00000304234:R427W	ENSP00000304234:R427W	R	+	1	2	PCDHA10	140217096	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.579000	0.02123	-0.455000	0.07054	-0.231000	0.12243	CGG		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
FAM196B	100131897	hgsc.bcm.edu	37	5	169309687	169309687	+	Missense_Mutation	SNP	G	G	A	rs187220094	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:169309687G>A	ENST00000377365.3	-	2	2597	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000520908.1_Intron|DOCK2_ENST00000523351.1_Intron|FAM196B_ENST00000523970.1_5'Flank	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	406										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						AGTTCACCCCGTGCCAGGTGA	0.448													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19736	0.0		0.002	False		,,,				2504	0.0																0			5											84.0	76.0	79.0					5																	169309687		692	1591	2283	169242265	SO:0001583	missense	0				CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.1216C>T	5.37:g.169309687G>A	ENSP00000366582:p.Arg406Trp		169242265		Missense_Mutation	SNP	ENST00000377365.3	37	CCDS47336.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.91	2.377597	0.42105	.	.	ENSG00000204767	ENST00000377365	T	0.45668	0.89	5.09	1.08	0.20341	.	0.574330	0.16937	N	0.193401	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.50708	0.648	T	0.11324	-1.0592	10	0.49607	T	0.09	-0.4242	5.8061	0.18440	0.0669:0.1159:0.55:0.2672	.	406	A6NMK8	F196B_HUMAN	W	406	ENSP00000366582:R406W	ENSP00000366582:R406W	R	-	1	2	FAM196B	169242265	0.621000	0.27077	0.010000	0.14722	0.965000	0.64279	1.319000	0.33655	-0.027000	0.13873	-0.126000	0.14955	CGG		0.448	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371629.1	NM_001129891	
ZNF354A	6940	hgsc.bcm.edu	37	5	178139770	178139770	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:178139770C>T	ENST00000335815.2	-	5	1306	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	370					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTGATGATAACGAAGGGATGA	0.403																																																	0			5											73.0	76.0	75.0					5																	178139770		2203	4297	6500	178072376	SO:0001583	missense	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1109G>A	5.37:g.178139770C>T	ENSP00000337122:p.Arg370His		178072376	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.961965	0.18583	.	.	ENSG00000169131	ENST00000335815	T	0.40225	1.04	4.96	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33496	N	0.004846	T	0.34366	0.0895	L	0.48218	1.51	0.30333	N	0.786431	B	0.25719	0.132	B	0.22386	0.039	T	0.35649	-0.9780	10	0.56958	D	0.05	-24.7023	10.0683	0.42317	0.2004:0.7996:0.0:0.0	.	370	O60765	Z354A_HUMAN	H	370	ENSP00000337122:R370H	ENSP00000337122:R370H	R	-	2	0	ZNF354A	178072376	0.053000	0.20554	1.000000	0.80357	0.985000	0.73830	-0.022000	0.12480	2.741000	0.93983	0.655000	0.94253	CGT		0.403	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
SQSTM1	8878	hgsc.bcm.edu	37	5	179263547	179263547	+	Missense_Mutation	SNP	C	C	T	rs201239306		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:179263547C>T	ENST00000389805.4	+	8	1455	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000402874.3_Missense_Mutation_p.A342V|C5orf45_ENST00000523267.1_5'Flank|SQSTM1_ENST00000360718.5_Missense_Mutation_p.A342V|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R343W|SQSTM1_ENST00000376929.3_Missense_Mutation_p.A342V	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	426	Interaction with NTRK1. {ECO:0000250}.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACATCGGAGCGGCTCTGGAC	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15597	0.0		0.0	False		,,,				2504	0.0																0			5											153.0	142.0	146.0					5																	179263547		2203	4300	6503	179196153	SO:0001583	missense	8878			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1277C>T	5.37:g.179263547C>T	ENSP00000374455:p.Ala426Val		179196153	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	CCDS34317.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	17.93|17.93	3.510234|3.510234	0.64522|0.64522	.|.	.|.	ENSG00000161011|ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000360718|ENST00000510187	D;D;D;D|T	0.89050|0.22134	-2.46;-2.46;-2.46;-2.46|1.97	4.53|4.53	4.53|4.53	0.55603|0.55603	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);UBA-like (1);|.	0.167892|.	0.52532|.	N|.	0.000077|.	T|T	0.24851|0.24851	0.0603|0.0603	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|P	0.89917|0.36616	1.0|0.561	D|B	0.64506|0.29942	0.926|0.109	T|T	0.19582|0.19582	-1.0301|-1.0301	10|9	0.54805|0.87932	T|D	0.06|0	-10.1183|-10.1183	17.2546|17.2546	0.87052|0.87052	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426|343	Q13501|E7EMC7	SQSTM_HUMAN|.	V|W	342;426;282;342;342|343	ENSP00000366128:A342V;ENSP00000374455:A426V;ENSP00000385553:A342V;ENSP00000353944:A342V|ENSP00000424477:R343W	ENSP00000353944:A342V|ENSP00000424477:R343W	A|R	+|+	2|1	0|2	SQSTM1|SQSTM1	179196153|179196153	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.164000|0.164000	0.22412|0.22412	4.753000|4.753000	0.62183|0.62183	2.033000|2.033000	0.60031|0.60031	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.557	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1		
TTLL10	254173	hgsc.bcm.edu	37	1	1116222	1116223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:1116222_1116223insG	ENST00000379290.1	+	8	910_911	c.737_738insG	c.(736-741)ccggggfs	p.PG246fs	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_Frame_Shift_Ins_p.PG173fs|TTLL10_ENST00000379289.1_Frame_Shift_Ins_p.PG246fs			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	246	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCAAGGTGCCGGGGGGGGTCC	0.723																																																	0			1																																								1106086	SO:0001589	frameshift_variant	254173			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.745dupG	1.37:g.1116230_1116230dupG	ENSP00000368592:p.Pro246fs		1106085	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Frame_Shift_Ins	INS	ENST00000379290.1	37	CCDS44036.1																																																																																				0.723	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254	
TNFAIP6	7130	hgsc.bcm.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0			2											20.0	21.0	21.0					2																	152236046		2160	4277	6437	151944292	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA			151944292	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	ENST00000243347.3	37	CCDS2193.1																																																																																				0.289	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
PRKRA	8575	hgsc.bcm.edu	37	2	179315735	179315736	+	Frame_Shift_Del	DEL	GC	GC	-	rs141354030|rs79769305	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:179315735_179315736delGC	ENST00000325748.4	-	1	222_223	c.22_23delGC	c.(22-24)gccfs	p.A8fs	PRKRA_ENST00000438687.3_5'UTR|DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000470200.1_5'UTR|DFNB59_ENST00000375129.4_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	8	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CGGGGCCTCGGCGCGGTGCCTG	0.757														1193	0.238219	0.1649	0.3545	5008	,	,		12129	0.123		0.339	False		,,,				2504	0.2699				Melanoma(200;68 3001 23825 48764)												0			2								658,2174		225,208,983						-1.9	0.8		dbSNP_134	7	2206,4138		751,704,1717	no	frameshift	PRKRA	NM_003690.4		976,912,2700	A1A1,A1R,RR		34.773,23.2345,31.2119				2864,6312				179023982	SO:0001589	frameshift_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.22_23delGC	2.37:g.179315737_179315738delGC	ENSP00000318176:p.Ala8fs		179023981	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Frame_Shift_Del	DEL	ENST00000325748.4	37	CCDS2279.1																																																																																				0.757	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
TRMT10C	54931	hgsc.bcm.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcafs	p.A128fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	128					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTAACACAGCaaaaaaaaaat	0.343																																																	0			3								86,83,3215		3,0,80,1,81,1527	28.0	25.0	26.0			5.9	0.8	3		29	198,238,7170		8,1,181,6,225,3382	no	codingComplex	RG9MTD1	NM_017819.2		11,1,261,7,306,4909	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7323,4.9941,5.505			101284009	284,321,10385	1781	4033	5814	102766699	SO:0001589	frameshift_variant	54931			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.384delA	3.37:g.101284009delA	ENSP00000312356:p.Ala128fs		102766699	Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Del	DEL	ENST00000309922.6	37	CCDS43122.1																																																																																				0.343	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819	
MUC4	4585	hgsc.bcm.edu	37	3	195507215	195507262	+	In_Frame_Del	DEL	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	-	rs553645209|rs74187968|rs375915811|rs201269328|rs569772156|rs199994331|rs200315207|rs201456607|rs567957149|rs370997210|rs535035384|rs367631576|rs532961620|rs537603063|rs199776180	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENST00000463781.3	-	2	11648_11695	c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	c.(11188-11238)catgtcaccagcccttcctcagcatccacaggtcacgtcacccctcttcct>cct	p.HVTSPSSASTGHVTPL3730del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.HVTSPSSASTGHVTPL3730del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)	3																																								196992041	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	3.37:g.195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENSP00000417498:p.His3730_Leu3745del		196991994	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508454	195508455	+	Frame_Shift_Ins	INS	-	-	C	rs201319965	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:195508454_195508455insC	ENST00000463781.3	-	2	10455_10456	c.9996_9997insG	c.(9994-9999)accagcfs	p.S3333fs	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.S3333fs|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGGGCTGGTGACATGAA	0.594																																																	1	Deletion - In frame(1)	stomach(1)	3																																								196993234	SO:0001589	frameshift_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9996_9997insG	3.37:g.195508454_195508455insC	ENSP00000417498:p.Ser3333fs		196993233	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	ENST00000463781.3	37	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)	3							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				196999440	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del		196999393	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs		1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
APC	324	hgsc.bcm.edu	37	5	112175212	112175216	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-	rs121913224		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	AAAAG	AAAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:112175212_112175216delAAAAG	ENST00000457016.1	+	16	4301_4305	c.3921_3925delAAAAG	c.(3919-3927)ataaaagaafs	p.KE1308fs	APC_ENST00000257430.4_Frame_Shift_Del_p.KE1308fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.KE1308fs			P25054	APC_HUMAN	adenomatous polyposis coli	1308	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.E1309fs*6(51)|p.E1309fs*4(42)|p.E1309*(25)|p.I1307fs*6(12)|p.K1308*(6)|p.I1307fs*7(2)|p.I1311fs*4(2)|p.K1308fs*6(1)|p.I1307fs*13(1)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1309K(1)|p.K1308E(1)|p.K1308fs*4(1)|p.I1307fs*14(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)		TAGCAGAAATAAAAGAAAAGATTGG	0.424		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"""	150	Deletion - Frameshift(61)|Insertion - Frameshift(54)|Substitution - Nonsense(31)|Substitution - Missense(2)|Unknown(1)|Complex - frameshift(1)	large_intestine(145)|stomach(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	5	GRCh37	CD040160|CD084022|CD941590|CD972006|CM086765|CM920052	APC	D|M																																				112203115	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.3921_3925delAAAAG	5.37:g.112175217_112175221delAAAAG	ENSP00000413133:p.Lys1308fs		112203111	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.424	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SGK223	157285	hgsc.bcm.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)												2	Insertion - In frame(2)	breast(2)	8																																								8272279	SO:0001652	inframe_insertion	0																														ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup		8272278	Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
KRTAP5-10	387273	hgsc.bcm.edu	37	11	71276922	71276951	+	In_Frame_Del	DEL	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	-	rs78111049|rs7933459|rs369128313|rs199839459|rs76397897|rs111317671|rs527935556	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:71276922_71276951delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	ENST00000398531.1	+	1	314_343	c.289_318delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	c.(289-318)tgtgggggctccaaggggggctgtggttctdel	p.CGGSKGGCGS127del	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	127	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCTTGTGGGGGCT	0.678																																																	0			11																																								70954599	SO:0001651	inframe_deletion	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.289_318delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	11.37:g.71276922_71276951delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	ENSP00000381542:p.Cys127_Ser136del		70954570	B9EHA4	In_Frame_Del	DEL	ENST00000398531.1	37	CCDS41684.1																																																																																				0.678	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2		
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0			12																																								49032215	SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del		49032180		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
SPIRE2	84501	hgsc.bcm.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219|rs377330880	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(457-459)gag>GAGgag	p.153_153E>EE	SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_In_Frame_Ins_p.153_153E>EE	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	153	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728														371	0.0740815	0.0038	0.0245	5008	,	,		12494	0.2679		0.0606	False		,,,				2504	0.0184																0			16																																								88444381	SO:0001652	inframe_insertion	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.469_471dupGAG	16.37:g.89916886_89916888dupGAG	ENSP00000367494:p.Glu157dup		88444380	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	In_Frame_Ins	INS	ENST00000378247.3	37	CCDS32516.1																																																																																				0.728	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0.0																																																	0			20																																								55400100	SO:0001628	intergenic_variant	55544																															Unknown.37:g.0_0insC			55400099		Frame_Shift_Ins	INS		37																																																																																				0	0								
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	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						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	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.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
TTLL10	254173	hgsc.bcm.edu	37	1	1116222	1116223	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr1:1116222_1116223insG	ENST00000379290.1	+	8	910_911	c.737_738insG	c.(736-741)ccggggfs	p.PG246fs	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_Frame_Shift_Ins_p.PG173fs|TTLL10_ENST00000379289.1_Frame_Shift_Ins_p.PG246fs			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	246	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCAAGGTGCCGGGGGGGGTCC	0.723																																																	0			1																																								1106086	SO:0001589	frameshift_variant	254173			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.745dupG	1.37:g.1116230_1116230dupG	ENSP00000368592:p.Pro246fs		1106085	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Frame_Shift_Ins	INS	ENST00000379290.1	37	CCDS44036.1																																																																																				0.723	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254	
TNFAIP6	7130	hgsc.bcm.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0			2											20.0	21.0	21.0					2																	152236046		2160	4277	6437	151944292	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA			151944292	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	ENST00000243347.3	37	CCDS2193.1																																																																																				0.289	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
PRKRA	8575	hgsc.bcm.edu	37	2	179315735	179315736	+	Frame_Shift_Del	DEL	GC	GC	-	rs141354030|rs79769305	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr2:179315735_179315736delGC	ENST00000325748.4	-	1	222_223	c.22_23delGC	c.(22-24)gccfs	p.A8fs	PRKRA_ENST00000438687.3_5'UTR|DFNB59_ENST00000409117.3_5'Flank|PRKRA_ENST00000432031.2_5'Flank|PRKRA_ENST00000487082.1_5'Flank|PRKRA_ENST00000470200.1_5'UTR|DFNB59_ENST00000375129.4_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	8	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CGGGGCCTCGGCGCGGTGCCTG	0.757														1193	0.238219	0.1649	0.3545	5008	,	,		12129	0.123		0.339	False		,,,				2504	0.2699				Melanoma(200;68 3001 23825 48764)												0			2								658,2174		225,208,983						-1.9	0.8		dbSNP_134	7	2206,4138		751,704,1717	no	frameshift	PRKRA	NM_003690.4		976,912,2700	A1A1,A1R,RR		34.773,23.2345,31.2119				2864,6312				179023982	SO:0001589	frameshift_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.22_23delGC	2.37:g.179315737_179315738delGC	ENSP00000318176:p.Ala8fs		179023981	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Frame_Shift_Del	DEL	ENST00000325748.4	37	CCDS2279.1																																																																																				0.757	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
TRMT10C	54931	hgsc.bcm.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcafs	p.A128fs		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	128					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CTAACACAGCaaaaaaaaaat	0.343																																																	0			3								86,83,3215		3,0,80,1,81,1527	28.0	25.0	26.0			5.9	0.8	3		29	198,238,7170		8,1,181,6,225,3382	no	codingComplex	RG9MTD1	NM_017819.2		11,1,261,7,306,4909	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7323,4.9941,5.505			101284009	284,321,10385	1781	4033	5814	102766699	SO:0001589	frameshift_variant	54931			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.384delA	3.37:g.101284009delA	ENSP00000312356:p.Ala128fs		102766699	Q9NRG5|Q9NX54|Q9Y596	Frame_Shift_Del	DEL	ENST00000309922.6	37	CCDS43122.1																																																																																				0.343	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819	
MUC4	4585	hgsc.bcm.edu	37	3	195507215	195507262	+	In_Frame_Del	DEL	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	-	rs553645209|rs74187968|rs375915811|rs201269328|rs569772156|rs199994331|rs200315207|rs201456607|rs567957149|rs370997210|rs535035384|rs367631576|rs532961620|rs537603063|rs199776180	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENST00000463781.3	-	2	11648_11695	c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	c.(11188-11238)catgtcaccagcccttcctcagcatccacaggtcacgtcacccctcttcct>cct	p.HVTSPSSASTGHVTPL3730del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.HVTSPSSASTGHVTPL3730del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)	3																																								196992041	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	3.37:g.195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENSP00000417498:p.His3730_Leu3745del		196991994	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508454	195508455	+	Frame_Shift_Ins	INS	-	-	C	rs201319965	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:195508454_195508455insC	ENST00000463781.3	-	2	10455_10456	c.9996_9997insG	c.(9994-9999)accagcfs	p.S3333fs	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.S3333fs|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGGGCTGGTGACATGAA	0.594																																																	1	Deletion - In frame(1)	stomach(1)	3																																								196993234	SO:0001589	frameshift_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9996_9997insG	3.37:g.195508454_195508455insC	ENSP00000417498:p.Ser3333fs		196993233	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	ENST00000463781.3	37	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195514998	195515045	+	In_Frame_Del	DEL	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	-	rs200518052|rs538504516|rs199975352|rs200763050|rs552771790|rs570974278|rs368837663|rs201206859|rs199883835|rs78683709|rs201451131|rs76196931	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	GGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr3:195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENST00000463781.3	-	2	3865_3912	c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	c.(3406-3453)tctcttcctgtcaccgacacttcctcagtatccacaggtcacaccaccdel	p.SLPVTDTSSVSTGHTT1136del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SLPVTDTSSVSTGHTT1136del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	603					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T1142S(3)|p.V1145A(2)|p.P1138L(1)|p.H1149H(1)|p.T1142T(1)|p.T1150A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CATGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGA	0.569																																																	9	Substitution - Missense(7)|Substitution - coding silent(2)	endometrium(4)|stomach(2)|skin(2)|kidney(1)	3							,,	1034,2304		279,476,914					,,	-1.1	0.0			8	2849,3303		990,869,1217	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	1269,1345,2131	A1A1,A1R,RR		46.3101,30.9766,40.9168	,,	,,		3883,5607				196999440	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3406_3453delTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACACCACC	3.37:g.195514998_195515045delGGTGGTGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGA	ENSP00000417498:p.Ser1136_Thr1151del		196999393	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.569	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388594	1388622	+	Frame_Shift_Del	DEL	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT	-	rs76374232|rs151313714|rs540461234|rs75969203|rs558358960|rs79704405|rs200174708	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	CACGTGCCCATGTGGAGTGCCCGCCTGCT	CACGTGCCCATGTGGAGTGCCCGCCTGCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr4:1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENST00000324803.4	+	1	3255_3283	c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	c.(295-324)cacgtgcccatgtggagtgcccgcctgctcfs	p.HVPMWSARLL99fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	99					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L108H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCTGCTCACACACGTGCCCATGTGGAGTGCCCGCCTGCTCACGTGCCCA	0.655																																																	1	Substitution - Missense(1)	pancreas(1)	4																																								1378622	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.295_323delCACGTGCCCATGTGGAGTGCCCGCCTGCT	4.37:g.1388594_1388622delCACGTGCCCATGTGGAGTGCCCGCCTGCT	ENSP00000323978:p.His99fs		1378594	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.655	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
APC	324	hgsc.bcm.edu	37	5	112175212	112175216	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-	rs121913224		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	AAAAG	AAAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr5:112175212_112175216delAAAAG	ENST00000457016.1	+	16	4301_4305	c.3921_3925delAAAAG	c.(3919-3927)ataaaagaafs	p.KE1308fs	APC_ENST00000257430.4_Frame_Shift_Del_p.KE1308fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.KE1308fs			P25054	APC_HUMAN	adenomatous polyposis coli	1308	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.E1309fs*6(51)|p.E1309fs*4(42)|p.E1309*(25)|p.I1307fs*6(12)|p.K1308*(6)|p.I1307fs*7(2)|p.I1311fs*4(2)|p.K1308fs*6(1)|p.I1307fs*13(1)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1309K(1)|p.K1308E(1)|p.K1308fs*4(1)|p.I1307fs*14(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)		TAGCAGAAATAAAAGAAAAGATTGG	0.424		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"""	150	Deletion - Frameshift(61)|Insertion - Frameshift(54)|Substitution - Nonsense(31)|Substitution - Missense(2)|Unknown(1)|Complex - frameshift(1)	large_intestine(145)|stomach(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|skin(1)	5	GRCh37	CD040160|CD084022|CD941590|CD972006|CM086765|CM920052	APC	D|M																																				112203115	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.3921_3925delAAAAG	5.37:g.112175217_112175221delAAAAG	ENSP00000413133:p.Lys1308fs		112203111	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.424	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
SGK223	157285	hgsc.bcm.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)												2	Insertion - In frame(2)	breast(2)	8																																								8272279	SO:0001652	inframe_insertion	0																														ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup		8272278	Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	CCDS43706.1																																																																																				0.653	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
KRTAP5-10	387273	hgsc.bcm.edu	37	11	71276922	71276951	+	In_Frame_Del	DEL	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	-	rs78111049|rs7933459|rs369128313|rs199839459|rs76397897|rs111317671|rs527935556	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	TGTGGGGGCTCCAAGGGGGGCTGTGGTTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr11:71276922_71276951delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	ENST00000398531.1	+	1	314_343	c.289_318delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	c.(289-318)tgtgggggctccaaggggggctgtggttctdel	p.CGGSKGGCGS127del	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	127	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGGTTCTTGTGGGGGCT	0.678																																																	0			11																																								70954599	SO:0001651	inframe_deletion	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.289_318delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	11.37:g.71276922_71276951delTGTGGGGGCTCCAAGGGGGGCTGTGGTTCT	ENSP00000381542:p.Cys127_Ser136del		70954570	B9EHA4	In_Frame_Del	DEL	ENST00000398531.1	37	CCDS41684.1																																																																																				0.678	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2		
FAM186A	121006	hgsc.bcm.edu	37	12	50745913	50745948	+	In_Frame_Del	DEL	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	-	rs34283706|rs538502101|rs34000017|rs35116763		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	TGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENST00000327337.5	-	4	4666_4701	c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	c.(4666-4704)atccctccgcaggctcaggaattggagatccctctcacc>acc	p.IPPQAQELEIPL1556del	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_In_Frame_Del_p.IPPQAQELEIPL1556del	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1556																	TGCTGAGGGGTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGATGAGAGGGAT	0.665																																					NSCLC(138;1796 1887 12511 19463 37884)												0			12																																								49032215	SO:0001651	inframe_deletion	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4667_4702delTCCCTCCGCAGGCTCAGGAATTGGAGATCCCTCTCA	12.37:g.50745913_50745948delTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA	ENSP00000329995:p.Ile1556_Leu1567del		49032180		In_Frame_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.665	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1	XM_001718353	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
SPIRE2	84501	hgsc.bcm.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219|rs377330880	byFrequency	TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(457-459)gag>GAGgag	p.153_153E>EE	SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_In_Frame_Ins_p.153_153E>EE	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	153	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728														371	0.0740815	0.0038	0.0245	5008	,	,		12494	0.2679		0.0606	False		,,,				2504	0.0184																0			16																																								88444381	SO:0001652	inframe_insertion	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.469_471dupGAG	16.37:g.89916886_89916888dupGAG	ENSP00000367494:p.Glu157dup		88444380	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	In_Frame_Ins	INS	ENST00000378247.3	37	CCDS32516.1																																																																																				0.728	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0.0																																																	0			20																																								55400100	SO:0001628	intergenic_variant	55544																															Unknown.37:g.0_0insC			55400099		Frame_Shift_Ins	INS		37																																																																																				0	0								
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-AF-2687-01A-02D-1733-10	TCGA-AF-2687-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	3d727a51-b21c-4088-8124-90c2481c7dc2	31b94086-e0f6-4a2b-84db-466c50fa904e	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	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						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	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.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
