#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_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_classification	i_context	i_dataset	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	i_type
ACSM3	6296	hgsc.bcm.edu	37	16	20781479	20781479	+	Silent	SNP	C	C	G			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr16:20781479C>G	ENST00000289416.5	+	2	598	c.123C>G	c.(121-123)tcC>tcG	p.S41S	ACSM3_ENST00000440284.2_Silent_p.S41S|ACSM3_ENST00000450120.2_5'Flank	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	41					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.S41S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGAATTTCTCCAACTATGAAT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	16											88.0	84.0	86.0					16																	20781479		2201	4300	6501	20688980	SO:0001819	synonymous_variant	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.123C>G	16.37:g.20781479C>G			20688980	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	CCDS10589.1	SNP	21	Baylor																																																																																				0.418	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		Silent
ANO4	121601	hgsc.bcm.edu	37	12	101505349	101505349	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1582-01	TCGA-57-1582-11	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:101505349T>C	ENST00000392977.3	+	24	2521	c.2311T>C	c.(2311-2313)Tat>Cat	p.Y771H	ANO4_ENST00000550015.1_Missense_Mutation_p.Y291H|ANO4_ENST00000299222.9_Missense_Mutation_p.Y291H|ANO4_ENST00000392979.3_Missense_Mutation_p.Y736H			Q32M45	ANO4_HUMAN	anoctamin 4	771					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Y736H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGGAATTTGGTATGGAATTCT	0.318										HNSCC(74;0.22)																																						1	Substitution - Missense(1)	ovary(1)	12											113.0	112.0	112.0					12																	101505349		2203	4300	6503	100029480	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2311T>C	12.37:g.101505349T>C	ENSP00000376703:p.Tyr771His		100029480	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		SNP	57	Baylor	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327620	0.41197	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000002	T	0.64260	0.2582	M	0.61703	1.905	0.58432	D	0.999996	B;B;B	0.25719	0.016;0.132;0.016	B;B;B	0.34138	0.045;0.176;0.033	T	0.61108	-0.7129	10	0.32370	T	0.25	.	15.7972	0.78420	0.0:0.0:0.0:1.0	.	291;771;736	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	736;291;771;291	ENSP00000376705:Y736H;ENSP00000299222:Y291H;ENSP00000376703:Y771H;ENSP00000450192:Y291H	ENSP00000299222:Y291H	Y	+	1	0	ANO4	100029480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.226000	0.51254	2.143000	0.66587	0.533000	0.62120	TAT		0.318	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		Missense_Mutation
APC	324	hgsc.bcm.edu	37	5	112154954	112154954	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr5:112154954C>G	ENST00000457016.1	+	10	1605	c.1225C>G	c.(1225-1227)Ctt>Gtt	p.L409V	APC_ENST00000257430.4_Missense_Mutation_p.L409V|APC_ENST00000508376.2_Missense_Mutation_p.L409V			P25054	APC_HUMAN	adenomatous polyposis coli	409	Leu-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.L409V(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)		AGTCCTTCATCTTTTGGAACA	0.507		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"""	1	Substitution - Missense(1)	ovary(1)	5	GRCh37	CD020833	APC	D							52.0	51.0	51.0					5																	112154954		2202	4300	6502	112182853	SO:0001583	missense	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.1225C>G	5.37:g.112154954C>G	ENSP00000413133:p.Leu409Val		112182853	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887408	0.33348	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	N	0.12569	0.235	0.80722	D	1	B;B	0.27882	0.106;0.192	B;B	0.31442	0.13;0.13	T	0.40720	-0.9548	10	0.25751	T	0.34	-14.1993	20.4191	0.99033	0.0:1.0:0.0:0.0	.	411;409	Q4LE70;P25054	.;APC_HUMAN	V	409;391;409;409;409	ENSP00000413133:L409V;ENSP00000423224:L391V;ENSP00000257430:L409V;ENSP00000427089:L409V;ENSP00000423828:L409V	ENSP00000257430:L409V	L	+	1	0	APC	112182853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.898000	0.63238	2.832000	0.97577	0.650000	0.86243	CTT		0.507	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		Missense_Mutation
ATL1	51062	hgsc.bcm.edu	37	14	51087327	51087328	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-57-1582-01	TCGA-57-1582-11	TG	TG	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr14:51087327_51087328delTG	ENST00000358385.6	+	9	1114_1115	c.873_874delTG	c.(871-876)gatgaafs	p.D291fs	ATL1_ENST00000354525.4_Frame_Shift_Del_p.D291fs|ATL1_ENST00000441560.2_Frame_Shift_Del_p.D291fs|ATL1_ENST00000357032.3_Frame_Shift_Del_p.D291fs	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	291	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.D291fs*15(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAATAGATGATGAATTCATCAA	0.376																																																1	Deletion - Frameshift(1)	ovary(1)	14																																								50157078	SO:0001589	frameshift_variant	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.873_874delTG	14.37:g.51087327_51087328delTG	ENSP00000351155:p.Asp291fs		50157077	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	ENST00000358385.6	37	CCDS9700.1	DEL	51	Baylor																																																																																				0.376	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			Frame_Shift_Del
RTFDC1	51507	hgsc.bcm.edu	37	20	55088411	55088411	+	Missense_Mutation	SNP	A	A	G	rs140687107	byFrequency	TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr20:55088411A>G	ENST00000023939.4	+	6	625	c.518A>G	c.(517-519)aAt>aGt	p.N173S	RTFDC1_ENST00000395881.3_Missense_Mutation_p.N173S|GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000357348.5_Missense_Mutation_p.N203S	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	173								p.N173S(1)									ATCATGCTCAATGGCACCAAG	0.552													A|||	2	0.000399361	0.0008	0.0	5008	,	,		20003	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	20						A	SER/ASN,	1,4405	2.1+/-5.4	0,1,2202	146.0	88.0	108.0		518,	5.6	1.0	20	dbSNP_134	108	0,8600		0,0,4300	no	missense,intron	C20orf43,GCNT7	NM_016407.3,NM_080615.1	46,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,	173/307,	55088411	1,13005	2203	4300	6503	54521818	SO:0001583	missense	51507			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.518A>G	20.37:g.55088411A>G	ENSP00000023939:p.Asn173Ser		54521818	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	ENST00000023939.4	37	CCDS13453.1	SNP	4	Baylor	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	24.4	4.532397	0.85812	2.27E-4	0.0	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.75388	-0.3335	10	0.46703	T	0.11	-30.8909	15.4933	0.75629	1.0:0.0:0.0:0.0	.	203;173;173;173	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	S	173;173;203;203	ENSP00000023939:N173S;ENSP00000379220:N173S;ENSP00000349906:N203S;ENSP00000400322:N203S	ENSP00000023939:N173S	N	+	2	0	C20orf43	54521818	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.792000	0.69052	2.133000	0.65898	0.533000	0.62120	AAT		0.552	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407		Missense_Mutation
CD163	9332	hgsc.bcm.edu	37	12	7653941	7653941	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:7653941G>C	ENST00000359156.4	-	3	453	c.251C>G	c.(250-252)gCg>gGg	p.A84G	CD163_ENST00000396620.3_Missense_Mutation_p.A84G|CD163_ENST00000541972.1_Missense_Mutation_p.A72G|CD163_ENST00000432237.2_Missense_Mutation_p.A84G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	84	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.A84G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACAGAGACCGCTTCCATGCT	0.512																																																1	Substitution - Missense(1)	ovary(1)	12											144.0	133.0	137.0					12																	7653941		2203	4300	6503	7545208	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.251C>G	12.37:g.7653941G>C	ENSP00000352071:p.Ala84Gly		7545208	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	SNP	38	Baylor	.	.	.	.	.	.	.	.	.	.	G	8.258	0.810469	0.16537	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.02	-0.252	0.12999	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.644600	0.13835	N	0.359422	T	0.32010	0.0815	L	0.43923	1.385	0.09310	N	1	P;B;P	0.45634	0.863;0.312;0.563	P;B;B	0.45343	0.477;0.066;0.216	T	0.17653	-1.0362	10	0.62326	D	0.03	.	8.1995	0.31417	0.1199:0.0:0.4427:0.4374	.	84;84;84	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	G	84;72;84;84	ENSP00000352071:A84G;ENSP00000444071:A72G;ENSP00000379863:A84G;ENSP00000403885:A84G	ENSP00000352071:A84G	A	-	2	0	CD163	7545208	0.827000	0.29292	0.001000	0.08648	0.015000	0.08874	2.251000	0.43187	-0.119000	0.11830	-0.457000	0.05445	GCG		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		Missense_Mutation
CD63	967	hgsc.bcm.edu	37	12	56120578	56120578	+	Splice_Site	SNP	A	A	G			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:56120578A>G	ENST00000549117.1	-	5	768	c.332T>C	c.(331-333)gTg>gCg	p.V111A	CD63_ENST00000552692.1_Splice_Site_p.V111A|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_Splice_Site_p.V18A|CD63_ENST00000550776.1_Splice_Site_p.V29A|CD63_ENST00000257857.4_Splice_Site_p.V111A|CD63_ENST00000552067.1_Splice_Site_p.V18A|CD63_ENST00000552754.1_Splice_Site_p.V88A|CD63_ENST00000548160.1_Splice_Site_p.V18A|CD63_ENST00000546939.1_Splice_Site_p.V29A|CD63_ENST00000420846.3_Splice_Site_p.V111A	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	111					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.V111A(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CTCTGACATCACCTGAGAGTA	0.512																																					Pancreas(123;1459 1747 6717 18841 37380)											1	Substitution - Missense(1)	ovary(1)	12											131.0	129.0	130.0					12																	56120578		2203	4300	6503	54406845	SO:0001630	splice_region_variant	967			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.331-1T>C	12.37:g.56120578A>G			54406845	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	CCDS8890.1	SNP	6	Baylor	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778246	0.49786	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173;ENST00000546457	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.2	5.2	0.72013	Tetraspanin, EC2 domain (1);	0.389217	0.24583	N	0.037299	D	0.91637	0.7357	L	0.53561	1.675	0.52501	D	0.999958	D;P;B	0.71674	0.998;0.616;0.41	D;P;B	0.67382	0.951;0.53;0.241	D	0.90644	0.4577	10	0.39692	T	0.17	.	11.7535	0.51862	1.0:0.0:0.0:0.0	.	88;111;111	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	A	18;18;111;18;29;111;111;111;88;29;111;111;111	ENSP00000447938:V18A;ENSP00000449684:V18A;ENSP00000393502:V111A;ENSP00000449654:V18A;ENSP00000447356:V29A;ENSP00000449337:V111A;ENSP00000447730:V111A;ENSP00000257857:V111A;ENSP00000446807:V88A;ENSP00000448091:V29A;ENSP00000449281:V111A;ENSP00000446752:V111A;ENSP00000450191:V111A	ENSP00000257857:V111A	V	-	2	0	CD63	54406845	0.658000	0.27402	0.922000	0.36590	0.103000	0.19146	2.352000	0.44080	2.113000	0.64589	0.482000	0.46254	GTG		0.512	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1		Missense_Mutation	Missense_Mutation
CHRAC1	54108	hgsc.bcm.edu	37	8	141521637	141521637	+	Silent	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:141521637G>A	ENST00000220913.5	+	1	241	c.39G>A	c.(37-39)gaG>gaA	p.E13E	CHRAC1_ENST00000519533.1_Silent_p.E13E	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	13					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)	p.E13E(1)		ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			AGGGCGGGGAGCAGCGGCTCA	0.692																																																1	Substitution - coding silent(1)	ovary(1)	8											19.0	16.0	17.0					8																	141521637		2186	4291	6477	141590819	SO:0001819	synonymous_variant	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.39G>A	8.37:g.141521637G>A			141590819		Silent	SNP	ENST00000220913.5	37	CCDS6379.1	SNP	34	Baylor																																																																																				0.692	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		Silent
CLCA1	1179	hgsc.bcm.edu	37	1	86956984	86956984	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr1:86956984A>G	ENST00000234701.3	+	10	1745	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S	CLCA1_ENST00000394711.1_Missense_Mutation_p.N465S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	465	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.N465S(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CAAGTTCAGAACAATGGCCTC	0.383																																																1	Substitution - Missense(1)	ovary(1)	1											132.0	130.0	130.0					1																	86956984		2203	4300	6503	86729572	SO:0001583	missense	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1394A>G	1.37:g.86956984A>G	ENSP00000234701:p.Asn465Ser		86729572	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	SNP	2	Baylor	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296616	0.23650	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.66460	-0.21;-0.21	5.92	4.77	0.60923	von Willebrand factor, type A (2);	0.241739	0.41294	D	0.000919	T	0.41236	0.1150	L	0.46741	1.465	0.30930	N	0.726978	P;P	0.47962	0.903;0.903	P;P	0.50617	0.646;0.646	T	0.45527	-0.9255	10	0.02654	T	1	-18.9142	7.037	0.24998	0.6007:0.2638:0.0:0.1354	.	465;228	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	S	465;465;178	ENSP00000234701:N465S;ENSP00000378200:N465S	ENSP00000234701:N465S	N	+	2	0	CLCA1	86729572	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.723000	0.54955	1.026000	0.39733	0.533000	0.62120	AAC		0.383	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		Missense_Mutation
CNTFR	1271	hgsc.bcm.edu	37	9	34556274	34556274	+	Silent	SNP	G	G	T			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr9:34556274G>T	ENST00000378980.3	-	7	1040	c.747C>A	c.(745-747)ctC>ctA	p.L249L	CNTFR_ENST00000351266.4_Silent_p.L249L	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	249	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.L249L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GGTCCAGGATGAGGGGTCGGT	0.612																																																1	Substitution - coding silent(1)	ovary(1)	9											69.0	50.0	56.0					9																	34556274		2203	4300	6503	34546274	SO:0001819	synonymous_variant	1271			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.747C>A	9.37:g.34556274G>T			34546274	Q5U050	Silent	SNP	ENST00000378980.3	37	CCDS6558.1	SNP	45	Baylor																																																																																				0.612	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			Silent
COL14A1	7373	hgsc.bcm.edu	37	8	121309824	121309824	+	Silent	SNP	C	C	A			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:121309824C>A	ENST00000297848.3	+	35	4581	c.4311C>A	c.(4309-4311)ggC>ggA	p.G1437G	COL14A1_ENST00000247781.3_Silent_p.G1342G|COL14A1_ENST00000309791.4_Silent_p.G1437G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.G1437G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCCAGGCCTGGTAAGAA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	8											66.0	62.0	63.0					8																	121309824		2203	4298	6501	121379005	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4311C>A	8.37:g.121309824C>A			121379005		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	SNP	26	Baylor																																																																																				0.323	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		Silent
CTPS2	56474	hgsc.bcm.edu	37	X	16635355	16635355	+	Silent	SNP	C	C	G			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chrX:16635355C>G	ENST00000443824.1	-	16	2207	c.1464G>C	c.(1462-1464)ctG>ctC	p.L488L	CTPS2_ENST00000359276.4_Silent_p.L488L|CTPS2_ENST00000380241.3_Silent_p.L488L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	488	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)	p.L488L(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ATTGTTTGATCAGGTTAGGGT	0.428																																																1	Substitution - coding silent(1)	ovary(1)	X											153.0	133.0	140.0					X																	16635355		2203	4300	6503	16545276	SO:0001819	synonymous_variant	56474			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1464G>C	X.37:g.16635355C>G			16545276	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Silent	SNP	ENST00000443824.1	37	CCDS14175.1	SNP	29	Baylor																																																																																				0.428	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		Silent
CYP1A2	1544	hgsc.bcm.edu	37	15	75042400	75042400	+	Silent	SNP	C	C	A			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr15:75042400C>A	ENST00000343932.4	+	2	384	c.321C>A	c.(319-321)ggC>ggA	p.G107G		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	107					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.G107G(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	ATTTCAAGGGCCGGCCTGACC	0.677																																																1	Substitution - coding silent(1)	ovary(1)	15											52.0	48.0	49.0					15																	75042400		2197	4295	6492	72829453	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.321C>A	15.37:g.75042400C>A			72829453	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1	SNP	26	Baylor																																																																																				0.677	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		Silent
DCLK2	166614	hgsc.bcm.edu	37	4	151153493	151153493	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr4:151153493A>G	ENST00000296550.7	+	9	2058	c.1304A>G	c.(1303-1305)cAc>cGc	p.H435R	DCLK2_ENST00000506325.1_Missense_Mutation_p.H434R|DCLK2_ENST00000302176.8_Missense_Mutation_p.H452R	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H435R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGACAGGAACACCTGATTGAG	0.473																																					GBM(195;186 2215 13375 16801 37459)											1	Substitution - Missense(1)	ovary(1)	4											186.0	174.0	178.0					4																	151153493		2203	4300	6503	151372943	SO:0001583	missense	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1304A>G	4.37:g.151153493A>G	ENSP00000296550:p.His435Arg		151372943	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	SNP	6	Baylor	.	.	.	.	.	.	.	.	.	.	A	18.92	3.724697	0.68959	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.63580	-0.05;-0.05;-0.05	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045343	0.85682	D	0.000000	T	0.56031	0.1958	N	0.01235	-0.94	0.80722	D	1	P;D;B	0.67145	0.766;0.996;0.261	P;D;B	0.77557	0.593;0.99;0.324	T	0.74012	-0.3801	10	0.59425	D	0.04	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	452;434;435	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	R	435;434;452	ENSP00000296550:H435R;ENSP00000427235:H434R;ENSP00000303887:H452R	ENSP00000296550:H435R	H	+	2	0	DCLK2	151372943	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.281000	0.95811	2.311000	0.77944	0.533000	0.62120	CAC		0.473	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		Missense_Mutation
DEFB105B	504180	hgsc.bcm.edu	37	8	7345253	7345253	+	Missense_Mutation	SNP	T	T	A	rs62639778		TCGA-57-1582-01	TCGA-57-1582-11	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:7345253T>A	ENST00000335510.6	+	1	63	c.11T>A	c.(10-12)aTc>aAc	p.I4N	DEFB106B_ENST00000335479.2_5'Flank	NM_001040703.1	NP_001035793.1	Q8NG35	D105A_HUMAN	defensin, beta 105B	4					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.I4N(2)		large_intestine(1)|ovary(1)	2				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATGGCCCTGATCAGGAAGACA	0.368																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	8											1.0	1.0	1.0					8																	7345253		2	2	4	7332663	SO:0001583	missense	504180				CCDS34814.1	8p23.1	2011-03-29			ENSG00000186599	ENSG00000186599		"""Defensins, beta"""	29930	protein-coding gene	gene with protein product							Standard	NM_001040703		Approved			Q8NG35	OTTHUMG00000129315	ENST00000335510.6:c.11T>A	8.37:g.7345253T>A	ENSP00000335281:p.Ile4Asn		7332663	A1A581|Q8IZN8	Missense_Mutation	SNP	ENST00000335510.6	37	CCDS34814.1	SNP	50	Baylor	169	0.07738095238095238	23	0.046747967479674794	32	0.08839779005524862	37	0.06468531468531469	77	0.10158311345646438	T	0.021	-1.419534	0.01136	.	.	ENSG00000186599	ENST00000335510	.	.	.	1.78	-0.235	0.13071	.	0.200540	0.24884	N	0.034828	T	0.00580	0.0019	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.04140	-1.0974	7	0.34782	T	0.22	-4.4727	2.368	0.04324	0.1947:0.0:0.4928:0.3125	.	4	Q8NG35	D105A_HUMAN	N	4	.	ENSP00000335281:I4N	I	+	2	0	DEFB105B	7332663	0.002000	0.14202	0.001000	0.08648	0.077000	0.17291	0.215000	0.17562	-0.079000	0.12707	0.248000	0.18094	ATC		0.368	DEFB105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251447.2			Missense_Mutation
DPYSL4	10570	hgsc.bcm.edu	37	10	134013906	134013906	+	Silent	SNP	C	C	T	rs56326856	byFrequency	TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr10:134013906C>T	ENST00000338492.4	+	9	1022	c.858C>T	c.(856-858)gaC>gaT	p.D286D	DPYSL4_ENST00000368627.1_Silent_p.D186D|DPYSL4_ENST00000368629.1_Silent_p.D186D	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	286					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D286D(3)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGGGCACCGACGGTTCACACT	0.672													T|||	751	0.14996	0.2708	0.098	5008	,	,		15549	0.001		0.159	False		,,,				2504	0.1677															3	Substitution - Missense(3)	central_nervous_system(2)|endometrium(1)	10						T		1004,3402	727.6+/-409.9	119,766,1318	119.0	107.0	112.0		858	-3.2	0.1	10	dbSNP_129	112	1324,7276	756.8+/-407.5	92,1140,3068	no	coding-synonymous	DPYSL4	NM_006426.2		211,1906,4386	TT,TC,CC		15.3953,22.7871,17.8994		286/573	134013906	2328,10678	2203	4300	6503	133863896	SO:0001819	synonymous_variant	10570			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.858C>T	10.37:g.134013906C>T			133863896	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	CCDS7665.1	SNP	19	Baylor																																																																																				0.672	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			Silent
ECM1	1893	hgsc.bcm.edu	37	1	150483640	150483640	+	Missense_Mutation	SNP	G	G	C	rs61343114		TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr1:150483640G>C	ENST00000369047.4	+	6	799	c.674G>C	c.(673-675)aGc>aCc	p.S225T	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.S225T|ECM1_ENST00000369049.4_Missense_Mutation_p.S252T	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	225	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.S225T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACTGCCGCAGCCACACAAAC	0.552																																					Melanoma(156;1696 2560 11093 19685)											1	Substitution - Missense(1)	ovary(1)	1											87.0	94.0	92.0					1																	150483640		2203	4300	6503	148750264	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.674G>C	1.37:g.150483640G>C	ENSP00000358043:p.Ser225Thr		148750264	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129403	0.37630	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.77229	-1.08;-1.08;-1.08	4.74	-0.902	0.10537	.	0.996836	0.08139	N	0.991898	T	0.64800	0.2631	L	0.54323	1.7	0.09310	N	1	D;P;P;D;P;P	0.53619	0.961;0.952;0.835;0.96;0.728;0.918	P;P;P;P;B;P	0.50970	0.655;0.523;0.574;0.622;0.297;0.525	T	0.56607	-0.7951	10	0.44086	T	0.13	-1.1107	7.6928	0.28577	0.5765:0.0:0.4235:0.0	.	147;154;252;225;225;225	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	T	252;225;225	ENSP00000358045:S252T;ENSP00000358043:S225T;ENSP00000271630:S225T	ENSP00000271630:S225T	S	+	2	0	ECM1	148750264	0.000000	0.05858	0.061000	0.19648	0.808000	0.45660	-0.412000	0.07132	-0.033000	0.13736	0.655000	0.94253	AGC		0.552	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		Missense_Mutation
ECM2	1842	hgsc.bcm.edu	37	9	95277072	95277072	+	Nonsense_Mutation	SNP	G	G	A	rs138357265		TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr9:95277072G>A	ENST00000344604.5	-	4	1044	c.895C>T	c.(895-897)Cga>Tga	p.R299*	ECM2_ENST00000444490.2_Nonsense_Mutation_p.R277*|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	299					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)	p.R299*(1)		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						GAGGGCATTCGGAACATATCT	0.617																																																1	Substitution - Nonsense(1)	ovary(1)	9						G	,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	286.0	209.0	235.0		,829,829,895	-0.2	0.0	9	dbSNP_134	235	4,8596	3.7+/-12.6	0,4,4296	yes	intron,stop-gained,stop-gained,stop-gained	ECM2,CENPP	NM_001012267.1,NM_001197295.1,NM_001197296.1,NM_001393.3	,,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,,	,277/678,277/644,299/700	95277072	4,13002	2203	4300	6503	94316893	SO:0001587	stop_gained	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.895C>T	9.37:g.95277072G>A	ENSP00000344758:p.Arg299*		94316893	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Nonsense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315333	0.60524	0.0	4.65E-4	ENSG00000106823	ENST00000444490;ENST00000344604	.	.	.	4.73	-0.158	0.13383	.	0.504096	0.20520	N	0.090707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9186	0.63916	0.0:0.0:0.4725:0.5275	.	.	.	.	X	277;299	.	ENSP00000344758:R299X	R	-	1	2	ECM2	94316893	0.997000	0.39634	0.000000	0.03702	0.017000	0.09413	0.948000	0.29096	-0.105000	0.12132	0.655000	0.94253	CGA		0.617	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		Nonsense_Mutation
EEA1	8411	hgsc.bcm.edu	37	12	93172961	93172961	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:93172961A>G	ENST00000322349.8	-	25	3848	c.3584T>C	c.(3583-3585)aTa>aCa	p.I1195T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1195	Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.I1195T(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTCTTTTAGTATCTGCTGATT	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											179.0	172.0	174.0					12																	93172961		2203	4299	6502	91697092	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3584T>C	12.37:g.93172961A>G	ENSP00000317955:p.Ile1195Thr		91697092	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	SNP	16	Baylor	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.184290	0.01620	.	.	ENSG00000102189	ENST00000322349	T	0.64260	-0.09	5.63	3.25	0.37280	.	0.716289	0.12922	N	0.428077	T	0.39682	0.1087	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.15499	T	0.54	.	7.2384	0.26082	0.6474:0.0:0.3526:0.0	.	1195	Q15075	EEA1_HUMAN	T	1195	ENSP00000317955:I1195T	ENSP00000317955:I1195T	I	-	2	0	EEA1	91697092	0.008000	0.16893	0.131000	0.22000	0.386000	0.30323	1.016000	0.29976	0.972000	0.38314	0.455000	0.32223	ATA		0.403	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		Missense_Mutation
EGFR	1956	hgsc.bcm.edu	37	7	55273280	55273280	+	Silent	SNP	G	G	A	rs202156403		TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr7:55273280G>A	ENST00000275493.2	+	28	3780	c.3603G>A	c.(3601-3603)gcG>gcA	p.A1201A	EGFR_ENST00000454757.2_Silent_p.A1148A|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1201					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)	p.A1201A(1)		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)	TAAGGGTCGCGCCACAAAGCA	0.498		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"""	1	Substitution - coding silent(1)	ovary(1)	7											62.0	60.0	61.0					7																	55273280		2203	4300	6503	55240774	SO:0001819	synonymous_variant	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.3603G>A	7.37:g.55273280G>A			55240774	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1	SNP	38	Baylor																																																																																				0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		Silent
EME1	146956	hgsc.bcm.edu	37	17	48453533	48453533	+	Silent	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr17:48453533G>A	ENST00000338165.4	+	3	964	c.882G>A	c.(880-882)agG>agA	p.R294R	EME1_ENST00000511648.2_Silent_p.R294R|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000393271.2_Silent_p.R294R|MRPL27_ENST00000442592.3_5'Flank|MRPL27_ENST00000225969.4_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	294					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R294R(1)|p.R294S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCACTTGGAGGAGAAGGGCTG	0.522								Direct reversal of damage;Homologous recombination																																								2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	17											110.0	99.0	102.0					17																	48453533		2203	4300	6503	45808532	SO:0001819	synonymous_variant	146956			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.882G>A	17.37:g.48453533G>A			45808532	Q96N62	Silent	SNP	ENST00000338165.4	37	CCDS11565.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	6.195	0.404071	0.11754	.	.	ENSG00000154920	ENST00000510246	.	.	.	5.25	3.28	0.37604	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46816	-0.9164	4	.	.	.	-19.9718	5.5732	0.17208	0.2298:0.1437:0.6265:0.0	.	.	.	.	K	135	.	.	E	+	1	0	EME1	45808532	1.000000	0.71417	0.993000	0.49108	0.603000	0.37013	1.352000	0.34033	0.616000	0.30141	-0.142000	0.14014	GAG		0.522	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		Silent
FAM129C	199786	hgsc.bcm.edu	37	19	17644411	17644411	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr19:17644411G>A	ENST00000335393.4	+	5	559	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	FAM129C_ENST00000595684.1_Missense_Mutation_p.G141S|FAM129C_ENST00000599124.1_Missense_Mutation_p.G110S|FAM129C_ENST00000601861.1_Missense_Mutation_p.G110S|FAM129C_ENST00000332386.5_Missense_Mutation_p.G141S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000600871.1_Missense_Mutation_p.G87S|FAM129C_ENST00000352727.3_Missense_Mutation_p.G141S|FAM129C_ENST00000599164.1_Missense_Mutation_p.G110S|FAM129C_ENST00000300971.2_Missense_Mutation_p.G141S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	141								p.G141S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGAAAACGGGGGCCACTGCCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	19											78.0	74.0	75.0					19																	17644411		2203	4300	6503	17505411	SO:0001583	missense	199786			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.421G>A	19.37:g.17644411G>A	ENSP00000335040:p.Gly141Ser		17505411	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	SNP	43	Baylor	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259924	0.23051	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.22539	2.24;2.26;1.95;1.95	2.99	-0.518	0.11943	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.450390	0.04605	N	0.399144	T	0.17959	0.0431	L	0.57536	1.79	0.22034	N	0.999401	P;P	0.38078	0.617;0.617	B;B	0.36666	0.23;0.23	T	0.21143	-1.0254	10	0.12766	T	0.61	-3.6772	3.5057	0.07689	0.2441:0.2151:0.5409:0.0	.	141;141	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	141;141;141;141;87	ENSP00000335040:G141S;ENSP00000333447:G141S;ENSP00000341067:G141S;ENSP00000300971:G141S	ENSP00000300971:G141S	G	+	1	0	FAM129C	17505411	0.070000	0.21116	0.041000	0.18516	0.005000	0.04900	-0.032000	0.12266	0.001000	0.14605	-0.658000	0.03865	GGC		0.522	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		Missense_Mutation
FAM171B	165215	hgsc.bcm.edu	37	2	187627323	187627323	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr2:187627323G>A	ENST00000304698.5	+	8	2457	c.2254G>A	c.(2254-2256)Gtc>Atc	p.V752I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	752						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.V752I(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGAACCACCGTCTGTTCCCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	2											84.0	88.0	86.0					2																	187627323		2203	4300	6503	187335568	SO:0001583	missense	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2254G>A	2.37:g.187627323G>A	ENSP00000304108:p.Val752Ile		187335568	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607188	0.46527	.	.	ENSG00000144369	ENST00000304698	T	0.33216	1.42	6.02	4.22	0.49857	.	0.264930	0.37530	N	0.002059	T	0.25568	0.0622	L	0.52573	1.65	0.37370	D	0.911583	P;P	0.44478	0.836;0.836	B;B	0.36885	0.235;0.235	T	0.22556	-1.0213	10	0.36615	T	0.2	-11.6348	12.0741	0.53634	0.1372:0.0:0.8628:0.0	.	752;753	Q6P995;A8K122	F171B_HUMAN;.	I	752	ENSP00000304108:V752I	ENSP00000304108:V752I	V	+	1	0	FAM171B	187335568	1.000000	0.71417	0.738000	0.30950	0.975000	0.68041	4.724000	0.61972	1.541000	0.49316	0.650000	0.86243	GTC		0.498	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		Missense_Mutation
FANCA	2175	hgsc.bcm.edu	37	16	89849483	89849483	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr16:89849483G>C	ENST00000389301.3	-	16	1528	c.1498C>G	c.(1498-1500)Ccc>Gcc	p.P500A	FANCA_ENST00000568369.1_Missense_Mutation_p.P500A	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	500					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P500A(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TACTTGCCGGGAACCAGGGGT	0.597			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	1	Substitution - Missense(1)	ovary(1)	16											178.0	137.0	151.0					16																	89849483		2198	4300	6498	88376984	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1498C>G	16.37:g.89849483G>C	ENSP00000373952:p.Pro500Ala		88376984	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978206	0.53720	.	.	ENSG00000187741	ENST00000389301	D	0.86432	-2.12	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000007	D	0.93612	0.7960	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93896	0.7184	10	0.66056	D	0.02	-25.2563	18.4531	0.90711	0.0:0.0:1.0:0.0	.	500;500	B4DRI7;O15360	.;FANCA_HUMAN	A	500	ENSP00000373952:P500A	ENSP00000373952:P500A	P	-	1	0	FANCA	88376984	1.000000	0.71417	0.140000	0.22221	0.043000	0.13939	5.001000	0.63946	2.599000	0.87857	0.555000	0.69702	CCC		0.597	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			Missense_Mutation
FBXO38	81545	hgsc.bcm.edu	37	5	147807211	147807211	+	Missense_Mutation	SNP	A	A	G			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr5:147807211A>G	ENST00000340253.5	+	15	2522	c.2354A>G	c.(2353-2355)cAa>cGa	p.Q785R	FBXO38_ENST00000394370.3_Missense_Mutation_p.Q785R|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA			Q6PIJ6	FBX38_HUMAN	F-box protein 38	785					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q785R(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAATCCCAAAGGAGAACT	0.577																																																1	Substitution - Missense(1)	ovary(1)	5											55.0	51.0	52.0					5																	147807211		2203	4300	6503	147787404	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2354A>G	5.37:g.147807211A>G	ENSP00000342023:p.Gln785Arg		147787404	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		SNP	5	Baylor	.	.	.	.	.	.	.	.	.	.	A	8.930	0.963326	0.18583	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.32515	1.45;1.5	6.04	4.82	0.62117	.	0.182769	0.48767	D	0.000180	T	0.21801	0.0525	L	0.27053	0.805	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.03717	-1.1010	10	0.34782	T	0.22	-15.806	12.0443	0.53471	0.8561:0.1439:0.0:0.0	.	785;785	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	R	785	ENSP00000342023:Q785R;ENSP00000377895:Q785R	ENSP00000342023:Q785R	Q	+	2	0	FBXO38	147787404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.301000	0.59086	2.317000	0.78254	0.460000	0.39030	CAA		0.577	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		Missense_Mutation
FPR1	2357	hgsc.bcm.edu	37	19	52249432	52249432	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr19:52249432C>A	ENST00000595042.1	-	3	957	c.816G>T	c.(814-816)ttG>ttT	p.L272F	FPR1_ENST00000304748.4_Missense_Mutation_p.L272F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	272					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.L272F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ACATGCCTTGCAATAACTCAC	0.512																																																1	Substitution - Missense(1)	ovary(1)	19											108.0	86.0	93.0					19																	52249432		2203	4300	6503	56941244	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.816G>T	19.37:g.52249432C>A	ENSP00000471493:p.Leu272Phe		56941244	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	SNP	25	Baylor	.	.	.	.	.	.	.	.	.	.	.	5.327	0.245670	0.10077	.	.	ENSG00000171051	ENST00000304748	T	0.62639	0.01	3.65	-1.54	0.08584	GPCR, rhodopsin-like superfamily (1);	0.857372	0.09991	N	0.729752	T	0.59542	0.2201	M	0.73962	2.25	0.09310	N	1	B	0.29270	0.24	B	0.35727	0.209	T	0.52419	-0.8578	10	0.24483	T	0.36	.	7.6444	0.28312	0.2986:0.6048:0.0:0.0966	.	272	P21462	FPR1_HUMAN	F	272	ENSP00000302707:L272F	ENSP00000302707:L272F	L	-	3	2	FPR1	56941244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.600000	0.02083	-0.337000	0.08426	-0.961000	0.02630	TTG		0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		Missense_Mutation
GABRA6	2559	hgsc.bcm.edu	37	5	161119103	161119103	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr5:161119103C>T	ENST00000274545.5	+	8	1416	c.983C>T	c.(982-984)aCc>aTc	p.T328I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.T318I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	328					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T328I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AACTACTTTACCAATCTTCAG	0.458										TCGA Ovarian(5;0.080)																																						1	Substitution - Missense(1)	ovary(1)	5											161.0	137.0	145.0					5																	161119103		2203	4300	6503	161051681	SO:0001583	missense	2559				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.983C>T	5.37:g.161119103C>T	ENSP00000274545:p.Thr328Ile		161051681	A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	CCDS4356.1	SNP	18	Baylor	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527133	0.85706	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85556	-2.0;-2.0	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.050281	0.85682	D	0.000000	D	0.92179	0.7520	M	0.78456	2.415	0.58432	D	0.999999	D	0.60575	0.988	D	0.66979	0.948	D	0.92710	0.6182	10	0.59425	D	0.04	.	18.7138	0.91668	0.0:1.0:0.0:0.0	.	328	Q16445	GBRA6_HUMAN	I	328;318	ENSP00000274545:T328I;ENSP00000430527:T318I	ENSP00000274545:T328I	T	+	2	0	GABRA6	161051681	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.726000	0.84824	2.399000	0.81585	0.557000	0.71058	ACC		0.458	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			Missense_Mutation
GABRB1	2560	hgsc.bcm.edu	37	4	47405434	47405434	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr4:47405434A>T	ENST00000295454.3	+	6	936	c.644A>T	c.(643-645)gAc>gTc	p.D215V	GABRB1_ENST00000538619.1_Missense_Mutation_p.D145V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	215					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.D215V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	TCAATTGTTGACTACAAGATG	0.428																																																1	Substitution - Missense(1)	ovary(1)	4											129.0	122.0	124.0					4																	47405434		2203	4300	6503	47100191	SO:0001583	missense	2560				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.644A>T	4.37:g.47405434A>T	ENSP00000295454:p.Asp215Val		47100191	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	SNP	10	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.5	4.533641	0.85812	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.79653	-1.29;-1.29	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel ligand-binding (3);	0.136487	0.46145	D	0.000302	D	0.85660	0.5748	L	0.54965	1.715	0.80722	D	1	P;D	0.62365	0.899;0.991	P;P	0.59825	0.586;0.864	D	0.87092	0.2173	10	0.72032	D	0.01	-24.2247	15.6414	0.77006	1.0:0.0:0.0:0.0	.	145;215	F5GXV5;P18505	.;GBRB1_HUMAN	V	215;145	ENSP00000295454:D215V;ENSP00000440330:D145V	ENSP00000295454:D215V	D	+	2	0	GABRB1	47100191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	GAC		0.428	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			Missense_Mutation
GHSR	2693	hgsc.bcm.edu	37	3	172165575	172165575	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr3:172165575A>T	ENST00000241256.2	-	1	671	c.629T>A	c.(628-630)cTc>cAc	p.L210H	GHSR_ENST00000427970.1_Missense_Mutation_p.L210H	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	210					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.L210H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CATGACCGTGAGCAGTCCAGA	0.612																																					Esophageal Squamous(93;641 1401 20883 29581 34638)											1	Substitution - Missense(1)	ovary(1)	3											60.0	47.0	51.0					3																	172165575		2203	4300	6503	173648269	SO:0001583	missense	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.629T>A	3.37:g.172165575A>T	ENSP00000241256:p.Leu210His		173648269	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	CCDS3218.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342873	0.82022	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.38560	1.13;1.13	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.117593	0.56097	D	0.000021	T	0.71685	0.3369	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.78130	-0.2324	10	0.54805	T	0.06	-32.7984	15.6293	0.76888	1.0:0.0:0.0:0.0	.	210;210	Q92847-2;Q92847	.;GHSR_HUMAN	H	210	ENSP00000241256:L210H;ENSP00000395344:L210H	ENSP00000241256:L210H	L	-	2	0	GHSR	173648269	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.101000	0.63845	0.374000	0.22700	CTC		0.612	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		Missense_Mutation
GLI1	2735	hgsc.bcm.edu	37	12	57858606	57858606	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:57858606C>T	ENST00000228682.2	+	4	435	c.344C>T	c.(343-345)aCa>aTa	p.T115I	GLI1_ENST00000543426.1_5'UTR|GLI1_ENST00000546141.1_Missense_Mutation_p.T74I	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	115					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.T115I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCGCGATGCACATCTCCAGGA	0.587																																					Pancreas(157;841 1936 10503 41495 50368)											1	Substitution - Missense(1)	ovary(1)	12											129.0	109.0	115.0					12																	57858606		2203	4300	6503	56144873	SO:0001583	missense	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.344C>T	12.37:g.57858606C>T	ENSP00000228682:p.Thr115Ile		56144873	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	c	14.12	2.440550	0.43326	.	.	ENSG00000111087	ENST00000228682;ENST00000546141;ENST00000528432;ENST00000528467	T;T;T	0.12569	2.67;2.75;2.75	3.62	3.62	0.41486	.	0.317399	0.22373	N	0.060913	T	0.12220	0.0297	L	0.29908	0.895	0.80722	D	1	B	0.20164	0.042	B	0.19391	0.025	T	0.10428	-1.0630	10	0.87932	D	0	.	14.557	0.68106	0.0:1.0:0.0:0.0	.	115	P08151	GLI1_HUMAN	I	115;74;115;74	ENSP00000228682:T115I;ENSP00000441006:T74I;ENSP00000434408:T74I	ENSP00000228682:T115I	T	+	2	0	GLI1	56144873	0.018000	0.18449	0.997000	0.53966	0.825000	0.46686	1.788000	0.38714	2.017000	0.59298	0.556000	0.70494	ACA		0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		Missense_Mutation
GRIA3	2892	hgsc.bcm.edu	37	X	122598936	122598936	+	Missense_Mutation	SNP	T	T	A			TCGA-57-1582-01	TCGA-57-1582-11	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chrX:122598936T>A	ENST00000371251.1	+	13	2349	c.2297T>A	c.(2296-2298)gTg>gAg	p.V766E	GRIA3_ENST00000542149.1_Missense_Mutation_p.V766E|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Missense_Mutation_p.V766E|GRIA3_ENST00000264357.5_Missense_Mutation_p.V766E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	766					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.V766E(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GGCTATGGTGTGGCAACCCCT	0.423																																																2	Substitution - Missense(2)	ovary(2)	X											134.0	121.0	125.0					X																	122598936		2203	4300	6503	122426617	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2297T>A	X.37:g.122598936T>A	ENSP00000360297:p.Val766Glu		122426617	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	CCDS14604.1	SNP	59	Baylor	.	.	.	.	.	.	.	.	.	.	t	16.51	3.143469	0.57044	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.81497	2.545	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.991	T	0.71137	-0.4680	10	0.87932	D	0	.	13.5028	0.61467	0.0:0.0:0.0:1.0	.	766;766	P42263;P42263-2	GRIA3_HUMAN;.	E	766	ENSP00000264357:V766E;ENSP00000446146:V766E;ENSP00000360302:V766E;ENSP00000360297:V766E	ENSP00000264357:V766E	V	+	2	0	GRIA3	122426617	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	1.784000	0.52394	0.336000	0.21669	GTG		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		Missense_Mutation
GRIN2D	2906	hgsc.bcm.edu	37	19	48922495	48922495	+	Silent	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr19:48922495C>T	ENST00000263269.3	+	8	1828	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	580					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.P580P(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCCAGAGCCCTACAGCCCCG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	19											120.0	85.0	97.0					19																	48922495		2203	4300	6503	53614307	SO:0001819	synonymous_variant	2906			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1740C>T	19.37:g.48922495C>T			53614307		Silent	SNP	ENST00000263269.3	37	CCDS12719.1	SNP	24	Baylor																																																																																				0.577	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			Silent
GSDMC	56169	hgsc.bcm.edu	37	8	130774937	130774937	+	Missense_Mutation	SNP	G	G	C	rs200990251	byFrequency	TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:130774937G>C	ENST00000276708.4	-	5	1492	c.611C>G	c.(610-612)gCg>gGg	p.A204G		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	204						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.A204G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AAGAGTCAGCGCCTTCTTCTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	8											225.0	200.0	209.0					8																	130774937		2203	4300	6503	130844119	SO:0001583	missense	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.611C>G	8.37:g.130774937G>C	ENSP00000276708:p.Ala204Gly		130844119	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	SNP	38	Baylor	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164380	0.01673	.	.	ENSG00000147697	ENST00000276708	T	0.23552	1.9	4.13	-8.25	0.01025	.	2.361010	0.01817	N	0.033795	T	0.19725	0.0474	L	0.32530	0.975	0.09310	N	1	P	0.37038	0.579	B	0.38428	0.273	T	0.40664	-0.9551	10	0.62326	D	0.03	.	7.1368	0.25533	0.461:0.0:0.1228:0.4162	.	204	Q9BYG8	GSDMC_HUMAN	G	204	ENSP00000276708:A204G	ENSP00000276708:A204G	A	-	2	0	GSDMC	130844119	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.885000	0.00092	-5.290000	0.00017	-1.478000	0.00992	GCG		0.478	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			Missense_Mutation
HECW2	57520	hgsc.bcm.edu	37	2	197085579	197085579	+	Silent	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr2:197085579C>T	ENST00000260983.3	-	25	4415	c.4233G>A	c.(4231-4233)aaG>aaA	p.K1411K	HECW2_ENST00000409111.1_Silent_p.K1055K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1411	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K1411K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAATCCTCCACTTCACCATCC	0.448																																																1	Substitution - coding silent(1)	ovary(1)	2											330.0	275.0	293.0					2																	197085579		2203	4300	6503	196793824	SO:0001819	synonymous_variant	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4233G>A	2.37:g.197085579C>T			196793824	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1	SNP	20	Baylor																																																																																				0.448	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		Silent
HLF	3131	hgsc.bcm.edu	37	17	53398036	53398036	+	Silent	SNP	C	C	T	rs543073591		TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr17:53398036C>T	ENST00000226067.5	+	4	1157	c.684C>T	c.(682-684)taC>taT	p.Y228Y	HLF_ENST00000573945.1_Silent_p.Y143Y|HLF_ENST00000430986.2_Silent_p.Y143Y|HLF_ENST00000575345.1_Silent_p.Y143Y|HLF_ENST00000575307.1_3'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	228	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y228Y(1)		large_intestine(1)|ovary(2)	3						ATGACAAGTACTGGGCAAGGC	0.557			T	TCF3	ALL								C|||	1	0.000199681	0.0	0.0	5008	,	,		21507	0.001		0.0	False		,,,				2504	0.0						Dom	yes		17	17q22	3131	hepatic leukemia factor		L	1	Substitution - coding silent(1)	ovary(1)	17											36.0	39.0	38.0					17																	53398036		2203	4300	6503	50753035	SO:0001819	synonymous_variant	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.684C>T	17.37:g.53398036C>T			50753035	A8K1X8|Q6FHS9	Silent	SNP	ENST00000226067.5	37	CCDS11585.1	SNP	20	Baylor																																																																																				0.557	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		Silent
HYAL3	8372	hgsc.bcm.edu	37	3	50332884	50332884	+	Silent	SNP	C	C	G			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr3:50332884C>G	ENST00000336307.1	-	2	422	c.150G>C	c.(148-150)ctG>ctC	p.L50L	HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000450982.1_Silent_p.L50L|HYAL3_ENST00000359051.3_Silent_p.L50L	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	50					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.L50L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATTGAGTGGCAGGTGCACAC	0.557																																																1	Substitution - coding silent(1)	ovary(1)	3											125.0	114.0	117.0					3																	50332884		2203	4300	6503	50307888	SO:0001819	synonymous_variant	8372			AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.150G>C	3.37:g.50332884C>G			50307888	O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	CCDS2815.1	SNP	25	Baylor																																																																																				0.557	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		Silent
KLHL9	55958	hgsc.bcm.edu	37	9	21333640	21333640	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr9:21333640G>A	ENST00000359039.4	-	1	1739	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	KLHL9_ENST00000537938.1_Missense_Mutation_p.R339C			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	407					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.R407C(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCTGCACTGCGCCCACCAACT	0.448																																																1	Substitution - Missense(1)	ovary(1)	9											102.0	93.0	96.0					9																	21333640		2203	4300	6503	21323640	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1219C>T	9.37:g.21333640G>A	ENSP00000351933:p.Arg407Cys		21323640	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	SNP	38	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426563	0.43020	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.77750	-1.12;-1.12	4.68	3.78	0.43462	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	U	0.000000	D	0.84982	0.5593	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85264	0.1052	10	0.56958	D	0.05	.	12.2518	0.54601	0.0:0.0:0.8285:0.1715	.	407	Q9P2J3	KLHL9_HUMAN	C	407;339	ENSP00000351933:R407C;ENSP00000437733:R339C	ENSP00000351933:R407C	R	-	1	0	KLHL9	21323640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.293000	0.51779	1.092000	0.41356	0.655000	0.94253	CGC		0.448	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		Missense_Mutation
KPNB1	3837	hgsc.bcm.edu	37	17	45734427	45734427	+	Splice_Site	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr17:45734427G>C	ENST00000290158.4	+	4	890		c.e4+1		KPNB1_ENST00000537679.1_Splice_Site|KPNB1_ENST00000535458.2_Splice_Site|KPNB1_ENST00000540627.1_Splice_Site|KPNB1_ENST00000577918.1_Splice_Site	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						CCAAGATATAGTAAGTGCTTG	0.423																																																1	Unknown(1)	ovary(1)	17											145.0	121.0	130.0					17																	45734427		2203	4300	6503	43089426	SO:0001630	splice_region_variant	3837			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.483+1G>C	17.37:g.45734427G>C			43089426	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Splice_Site_SNP	SNP	ENST00000290158.4	37	CCDS11513.1	SNP	36	Baylor	.	.	.	.	.	.	.	.	.	.	g	23.1	4.380974	0.82792	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0505	0.97625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KPNB1	43089426	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.841000	0.99482	2.739000	0.93911	0.561000	0.74099	.		0.423	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265	Intron	Splice_Site_SNP
KRT6B	3854	hgsc.bcm.edu	37	12	52844246	52844246	+	Silent	SNP	A	A	G	rs28542657	byFrequency	TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:52844246A>G	ENST00000252252.3	-	2	746	c.699T>C	c.(697-699)ggT>ggC	p.G233G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	233	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.G233G(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AGTCCAGACGACCCCGTTCCC	0.557													G|||	394	0.0786741	0.0061	0.0821	5008	,	,		23280	0.1875		0.0875	False		,,,				2504	0.0532															1	Substitution - coding silent(1)	ovary(1)	12											210.0	184.0	193.0					12																	52844246		2203	4300	6503	51130513	SO:0001819	synonymous_variant	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.699T>C	12.37:g.52844246A>G			51130513	P48669	Silent	SNP	ENST00000252252.3	37	CCDS8828.1	SNP	10	Baylor																																																																																				0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		Silent
LCK	3932	hgsc.bcm.edu	37	1	32739985	32739985	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr1:32739985G>T	ENST00000336890.5	+	2	193	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	LCK_ENST00000333070.4_Missense_Mutation_p.V19L|LCK_ENST00000373564.3_Missense_Mutation_p.V19L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	19	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.V19L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AAACATCGATGTGTGTGAGAA	0.572			T	TRB@	T-ALL																																		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	1	Substitution - Missense(1)	ovary(1)	1											117.0	101.0	106.0					1																	32739985		2203	4300	6503	32512572	SO:0001583	missense	3932			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.55G>T	1.37:g.32739985G>T	ENSP00000337825:p.Val19Leu		32512572	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	SNP	48	Baylor	.	.	.	.	.	.	.	.	.	.	g	14.37	2.514757	0.44763	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.03	4.05	0.47172	.	0.000000	0.53938	D	0.000052	T	0.26810	0.0656	L	0.31664	0.95	0.29951	N	0.820262	B;B;B;B	0.10296	0.003;0.003;0.001;0.002	B;B;B;B	0.09377	0.004;0.002;0.004;0.001	T	0.08289	-1.0729	10	0.19590	T	0.45	.	8.5288	0.33321	0.0867:0.1581:0.7552:0.0	.	63;19;19;19	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	L	19;19;19;19;19;63;63;19;63;19	ENSP00000337825:V19L;ENSP00000431517:V19L;ENSP00000435605:V19L;ENSP00000434525:V19L;ENSP00000362663:V19L;ENSP00000436554:V63L;ENSP00000362658:V63L;ENSP00000328213:V19L;ENSP00000362665:V19L	ENSP00000328213:V19L	V	+	1	0	LCK	32512572	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	4.183000	0.58317	2.519000	0.84933	0.487000	0.48397	GTG		0.572	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		Missense_Mutation
LRRC7	57554	hgsc.bcm.edu	37	1	70541780	70541780	+	Silent	SNP	G	G	A	rs200239282		TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr1:70541780G>A	ENST00000035383.5	+	22	4167	c.4137G>A	c.(4135-4137)acG>acA	p.T1379T	LRRC7_ENST00000310961.5_Silent_p.T1337T|LRRC7_ENST00000415775.2_Silent_p.T663T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1379						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.T1379T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACATCCAGACGTTGATGGGGT	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17631	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	1											51.0	49.0	50.0					1																	70541780		2203	4300	6503	70314368	SO:0001819	synonymous_variant	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4137G>A	1.37:g.70541780G>A			70314368	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1	SNP	40	Baylor																																																																																				0.478	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		Silent
LYPD2	137797	hgsc.bcm.edu	37	8	143832477	143832477	+	Missense_Mutation	SNP	C	C	T	rs200148718		TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:143832477C>T	ENST00000359228.3	-	2	252	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	57	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R57Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACCTATCTCCCGGGAGTAGAG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18144	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	8											209.0	179.0	189.0					8																	143832477		2203	4300	6503	143829479	SO:0001583	missense	137797			AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.170G>A	8.37:g.143832477C>T	ENSP00000352163:p.Arg57Gln		143829479	A8K2R6|Q0VD64|Q0VF31	Missense_Mutation	SNP	ENST00000359228.3	37	CCDS6388.1	SNP	23	Baylor	169	0.07738095238095238	60	0.12195121951219512	16	0.04419889502762431	34	0.05944055944055944	59	0.07783641160949868	C	21.5	4.159785	0.78226	.	.	ENSG00000197353	ENST00000359228	T	0.80214	-1.35	5.0	-8.9	0.00782	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	1.916960	0.02765	N	0.119020	T	0.03263	0.0095	L	0.54323	1.7	0.21290	N	0.999736	B	0.25743	0.133	B	0.22601	0.04	T	0.53878	-0.8376	10	0.62326	D	0.03	.	12.3846	0.55325	0.194:0.6973:0.0:0.1087	.	57	Q6UXB3	LYPD2_HUMAN	Q	57	ENSP00000352163:R57Q	ENSP00000352163:R57Q	R	-	2	0	LYPD2	143829479	0.816000	0.29132	0.874000	0.34290	0.789000	0.44602	-0.412000	0.07132	-1.339000	0.02230	-0.397000	0.06425	CGG		0.622	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1	NM_205545		Missense_Mutation
MED13L	23389	hgsc.bcm.edu	37	12	116406877	116406877	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:116406877G>C	ENST00000281928.3	-	28	6299	c.6093C>G	c.(6091-6093)ttC>ttG	p.F2031L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2031						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.F2031L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATCATCTGGGAATGGAAGGT	0.413																																																1	Substitution - Missense(1)	ovary(1)	12											70.0	72.0	71.0					12																	116406877		2203	4300	6503	114891260	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6093C>G	12.37:g.116406877G>C	ENSP00000281928:p.Phe2031Leu		114891260	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840503	0.51057	.	.	ENSG00000123066	ENST00000281928	T	0.73152	-0.72	6.06	5.16	0.70880	.	0.047813	0.85682	D	0.000000	T	0.66616	0.2807	N	0.17278	0.47	0.58432	D	0.999997	D	0.76494	0.999	D	0.79108	0.992	T	0.64516	-0.6389	10	0.02654	T	1	-18.5147	10.7725	0.46332	0.1994:0.0:0.8006:0.0	.	2031	Q71F56	MD13L_HUMAN	L	2031	ENSP00000281928:F2031L	ENSP00000281928:F2031L	F	-	3	2	MED13L	114891260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.160000	0.42348	1.538000	0.49270	0.655000	0.94253	TTC		0.413	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			Missense_Mutation
MFN1	55669	hgsc.bcm.edu	37	3	179082173	179082173	+	Missense_Mutation	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr3:179082173G>A	ENST00000471841.1	+	6	751	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	MFN1_ENST00000280653.7_Missense_Mutation_p.E209K|MFN1_ENST00000263969.5_Missense_Mutation_p.E209K	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	209	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E209K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCAAACTCTGAATCAACACT	0.373																																																1	Substitution - Missense(1)	ovary(1)	3											127.0	119.0	122.0					3																	179082173		2203	4300	6503	180564867	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.625G>A	3.37:g.179082173G>A	ENSP00000420617:p.Glu209Lys		180564867	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	SNP	45	Baylor	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658743	0.88154	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-3.69;-3.69	5.24	5.24	0.73138	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98185	0.9400	M	0.83953	2.67	0.80722	D	1	D;D;P	0.71674	0.998;0.96;0.918	D;P;P	0.78314	0.991;0.848;0.761	D	0.98476	1.0603	10	0.54805	T	0.06	-18.7677	19.1856	0.93642	0.0:0.0:1.0:0.0	.	209;237;209	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	K	209;209;209;209;62;72	ENSP00000420617:E209K;ENSP00000280653:E209K;ENSP00000263969:E209K;ENSP00000420148:E62K;ENSP00000419926:E72K	ENSP00000263969:E209K	E	+	1	0	MFN1	180564867	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	9.414000	0.97362	2.611000	0.88343	0.650000	0.86243	GAA		0.373	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		Missense_Mutation
MORC2	22880	hgsc.bcm.edu	37	22	31330113	31330113	+	Silent	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr22:31330113C>T	ENST00000397641.3	-	20	2667	c.2259G>A	c.(2257-2259)gaG>gaA	p.E753E	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.E691E|MORC2_ENST00000469915.1_5'Flank			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	753						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E691E(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCTTCCTCCTCTCAGCTTCCT	0.547																																																1	Substitution - coding silent(1)	ovary(1)	22											203.0	155.0	171.0					22																	31330113		2203	4300	6503	29660113	SO:0001819	synonymous_variant	22880			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2259G>A	22.37:g.31330113C>T			29660113	B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37		SNP	32	Baylor																																																																																				0.547	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		Silent
MYH3	4621	hgsc.bcm.edu	37	17	10535905	10535905	+	Missense_Mutation	SNP	A	A	C			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr17:10535905A>C	ENST00000583535.1	-	34	4931	c.4844T>G	c.(4843-4845)cTc>cGc	p.L1615R	MYH3_ENST00000226209.7_Missense_Mutation_p.L1615R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1615					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.L1615R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTCTTCTTGAGCCGGATGGC	0.587																																																1	Substitution - Missense(1)	ovary(1)	17											224.0	221.0	222.0					17																	10535905		2203	4300	6503	10476630	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4844T>G	17.37:g.10535905A>C	ENSP00000464317:p.Leu1615Arg		10476630	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038862	0.93630	.	.	ENSG00000109063	ENST00000226209	T	0.79940	-1.32	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.91442	0.7299	M	0.93106	3.38	0.41098	D	0.985644	P	0.36027	0.533	P	0.53988	0.739	D	0.92626	0.6112	9	0.87932	D	0	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	1615	P11055	MYH3_HUMAN	R	1615	ENSP00000226209:L1615R	ENSP00000226209:L1615R	L	-	2	0	MYH3	10476630	1.000000	0.71417	0.974000	0.42286	0.943000	0.58893	9.326000	0.96389	2.326000	0.78906	0.533000	0.62120	CTC		0.587	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		Missense_Mutation
NR1I3	9970	hgsc.bcm.edu	37	1	161202662	161202662	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr1:161202662G>T	ENST00000367982.4	-	5	638	c.483C>A	c.(481-483)ttC>ttA	p.F161L	NR1I3_ENST00000504010.1_Missense_Mutation_p.F132L|NR1I3_ENST00000367985.3_Missense_Mutation_p.F161L|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.F161L|NR1I3_ENST00000428574.2_Missense_Mutation_p.F161L|NR1I3_ENST00000367984.4_Missense_Mutation_p.F161L|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367983.4_Missense_Mutation_p.F161L|NR1I3_ENST00000505005.1_Missense_Mutation_p.F161L|NR1I3_ENST00000506209.1_Missense_Mutation_p.F132L|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000512372.1_Missense_Mutation_p.F132L|NR1I3_ENST00000511676.1_Missense_Mutation_p.F132L|NR1I3_ENST00000442691.2_Missense_Mutation_p.F161L|NR1I3_ENST00000367979.2_Missense_Mutation_p.F161L|NR1I3_ENST00000508740.1_Missense_Mutation_p.F132L|NR1I3_ENST00000515452.1_Missense_Mutation_p.F161L|NR1I3_ENST00000412844.2_Missense_Mutation_p.F132L|NR1I3_ENST00000515621.1_Missense_Mutation_p.F86L|NR1I3_ENST00000367981.3_Missense_Mutation_p.F132L|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000437437.2_Missense_Mutation_p.F132L			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	161					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F161L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGATGTCTGCGAAGTGTGTGA	0.527																																																1	Substitution - Missense(1)	ovary(1)	1											142.0	144.0	143.0					1																	161202662		2203	4300	6503	159469286	SO:0001583	missense	9970			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.483C>A	1.37:g.161202662G>T	ENSP00000356961:p.Phe161Leu		159469286	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	0.913	-0.718351	0.03182	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.4	-10.8	0.00216	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.439044	0.26072	N	0.026510	T	0.80665	0.4666	N	0.17838	0.53	0.41925	D	0.990532	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.28324	0.018;0.011;0.023;0.0;0.02;0.001;0.207;0.002;0.023;0.038;0.003;0.006;0.012;0.003;0.066;0.042;0.076;0.023	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36244	0.063;0.028;0.021;0.004;0.022;0.009;0.22;0.019;0.021;0.149;0.019;0.015;0.019;0.029;0.09;0.066;0.094;0.021	T	0.65504	-0.6152	9	0.33141	T	0.24	.	11.2903	0.49245	0.1289:0.174:0.6113:0.0857	.	161;132;132;161;161;161;161;161;161;161;86;132;132;132;132;132;132;161	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	L	132;161;161;132;161;132;161;161;132;161;132;132;132;86;161;161;161;132;161	ENSP00000425417:F132L;ENSP00000356962:F161L;ENSP00000356959:F161L;ENSP00000407446:F132L;ENSP00000406493:F161L;ENSP00000399361:F132L;ENSP00000412672:F161L;ENSP00000424934:F161L;ENSP00000423666:F132L;ENSP00000356961:F161L;ENSP00000424345:F132L;ENSP00000427175:F132L;ENSP00000356960:F132L;ENSP00000421588:F86L;ENSP00000356963:F161L;ENSP00000356965:F161L;ENSP00000356958:F161L;ENSP00000423089:F132L;ENSP00000427034:F161L	ENSP00000356958:F161L	F	-	3	2	NR1I3	159469286	0.000000	0.05858	0.067000	0.19924	0.655000	0.38815	-3.170000	0.00573	-2.193000	0.00754	-0.367000	0.07326	TTC		0.527	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			Missense_Mutation
PFAS	5198	hgsc.bcm.edu	37	17	8166537	8166537	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr17:8166537G>C	ENST00000314666.6	+	13	1654	c.1521G>C	c.(1519-1521)aaG>aaC	p.K507N	PFAS_ENST00000545834.1_Missense_Mutation_p.K83N|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	507					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.K507N(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	AGGCCCCCAAGGGAAACCCCA	0.572																																																1	Substitution - Missense(1)	ovary(1)	17											122.0	125.0	124.0					17																	8166537		2203	4300	6503	8107262	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1521G>C	17.37:g.8166537G>C	ENSP00000313490:p.Lys507Asn		8107262	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010676	0.19277	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.31247	1.5;1.5	5.91	-2.91	0.05631	AIR synthase-related protein, C-terminal (2);	1.151880	0.06086	N	0.662752	T	0.21881	0.0527	L	0.33189	0.99	0.09310	N	0.999998	B;B	0.22746	0.066;0.074	B;B	0.23852	0.014;0.049	T	0.42015	-0.9476	10	0.62326	D	0.03	-0.0314	5.9257	0.19110	0.409:0.348:0.243:0.0	.	83;507	F5GWT9;O15067	.;PUR4_HUMAN	N	83;507	ENSP00000441706:K83N;ENSP00000313490:K507N	ENSP00000313490:K507N	K	+	3	2	PFAS	8107262	0.000000	0.05858	0.023000	0.16930	0.766000	0.43426	-0.832000	0.04400	-0.081000	0.12662	-0.775000	0.03384	AAG		0.572	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			Missense_Mutation
PKDREJ	10343	hgsc.bcm.edu	37	22	46654129	46654129	+	Silent	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr22:46654129G>A	ENST00000253255.5	-	1	5090	c.5091C>T	c.(5089-5091)ttC>ttT	p.F1697F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1697					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.F1697F(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTTTCTTTTGAATATTCTGA	0.418																																																1	Substitution - coding silent(1)	ovary(1)	22											192.0	156.0	168.0					22																	46654129		2203	4300	6503	45032793	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5091C>T	22.37:g.46654129G>A			45032793	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1	SNP	45	Baylor																																																																																				0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		Silent
POLE	5426	hgsc.bcm.edu	37	12	133214671	133214671	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:133214671G>C	ENST00000320574.5	-	41	5650	c.5607C>G	c.(5605-5607)aaC>aaG	p.N1869K	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.N1842K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1869					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.N1869K(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGATGATGCGGTTGAAGTTGG	0.577								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	12											159.0	130.0	140.0					12																	133214671		2203	4300	6503	131724744	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5607C>G	12.37:g.133214671G>C	ENSP00000322570:p.Asn1869Lys	1601	131724744	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	SNP	44	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013018	0.75161	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.24723	1.84;1.84;1.84	5.68	2.36	0.29203	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.88512	2.96	0.58432	D	0.999992	P;P	0.47910	0.902;0.898	P;P	0.57548	0.716;0.823	T	0.58847	-0.7564	10	0.72032	D	0.01	.	11.9174	0.52774	0.2265:0.0:0.7735:0.0	.	1869;79	Q07864;B3KS74	DPOE1_HUMAN;.	K	79;1869;1880;1842	ENSP00000322570:N1869K;ENSP00000406383:N1880K;ENSP00000445753:N1842K	ENSP00000322570:N1869K	N	-	3	2	POLE	131724744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.331000	0.43894	0.729000	0.32403	0.655000	0.94253	AAC		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		Missense_Mutation
PREX2	80243	hgsc.bcm.edu	37	8	69009330	69009330	+	Missense_Mutation	SNP	A	A	T			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:69009330A>T	ENST00000288368.4	+	22	2724	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	816					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.H816L(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GACAATGTCCACCTGGAATAT	0.443																																																1	Substitution - Missense(1)	ovary(1)	8											185.0	158.0	167.0					8																	69009330		2203	4300	6503	69171884	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2447A>T	8.37:g.69009330A>T	ENSP00000288368:p.His816Leu		69171884	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	SNP	6	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512353	0.85389	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.42131	0.98	6.16	6.16	0.99307	.	0.053513	0.64402	D	0.000001	T	0.56411	0.1983	M	0.66939	2.045	0.80722	D	1	P;B;P	0.37061	0.58;0.444;0.58	B;B;P	0.47864	0.373;0.272;0.559	T	0.57837	-0.7742	10	0.72032	D	0.01	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	816;816;816	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	L	816	ENSP00000288368:H816L	ENSP00000288368:H816L	H	+	2	0	PREX2	69171884	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.296000	0.96104	2.367000	0.80283	0.528000	0.53228	CAC		0.443	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		Missense_Mutation
RIC3	79608	hgsc.bcm.edu	37	11	8190440	8190440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr11:8190440delG	ENST00000309737.6	-	1	96	c.97delC	c.(97-99)cggfs	p.R33fs	RIC3_ENST00000419822.2_Frame_Shift_Del_p.R33fs|RIC3_ENST00000335425.7_Frame_Shift_Del_p.R33fs|RIC3_ENST00000343202.4_Frame_Shift_Del_p.R33fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.R33fs|RIC3_ENST00000539720.1_5'UTR|RP11-379P15.1_ENST00000499752.2_lincRNA			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	33					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R33fs*18(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GGCTCCTGCCGCTTCCCGCGG	0.652																																																1	Deletion - Frameshift(1)	ovary(1)	11											23.0	26.0	25.0					11																	8190440		2184	4268	6452	8147016	SO:0001589	frameshift_variant	79608				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.97delC	11.37:g.8190440delG	ENSP00000308820:p.Arg33fs		8147016	B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	ENST00000309737.6	37	CCDS55742.1	DEL	38	Baylor																																																																																				0.652	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		Frame_Shift_Del
CLVS2	134829	hgsc.bcm.edu	37	6	123384859	123384859	+	Missense_Mutation	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr6:123384859G>C	ENST00000275162.5	+	6	2272	c.937G>C	c.(937-939)Gat>Cat	p.D313H	CLVS2_ENST00000368438.1_Missense_Mutation_p.D167H	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	313					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D313H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAAACGCATGGATAAAAATGA	0.383																																																1	Substitution - Missense(1)	ovary(1)	6											156.0	142.0	147.0					6																	123384859		2203	4300	6503	123426558	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.937G>C	6.37:g.123384859G>C	ENSP00000275162:p.Asp313His		123426558	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	CCDS34525.1	SNP	41	Baylor	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826261	0.71143	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;T	0.81659	-1.52;-0.84	5.52	5.52	0.82312	.	0.143355	0.64402	D	0.000008	T	0.63212	0.2492	N	0.14661	0.345	0.58432	D	0.999999	P	0.37955	0.612	B	0.37833	0.259	T	0.71866	-0.4463	10	0.72032	D	0.01	-4.9707	19.7987	0.96497	0.0:0.0:1.0:0.0	.	313	Q5SYC1	CLVS2_HUMAN	H	313;167	ENSP00000275162:D313H;ENSP00000357423:D167H	ENSP00000275162:D313H	D	+	1	0	CLVS2	123426558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.775000	0.91772	2.767000	0.95098	0.655000	0.94253	GAT		0.383	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		Missense_Mutation
RNASE11	122651	hgsc.bcm.edu	37	14	21052340	21052340	+	Silent	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr14:21052340G>A	ENST00000610205.1	-	3	477	c.294C>T	c.(292-294)tgC>tgT	p.C98C	RNASE11_ENST00000432835.2_Silent_p.C98C|RNASE11_ENST00000555841.1_Silent_p.C98C|RNASE11_ENST00000398009.2_Silent_p.C98C|RNASE11_ENST00000553849.1_Silent_p.C98C|RNASE11_ENST00000398008.2_Silent_p.C98C	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	98						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.C98C(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCATGTCATTGCAACACTCTT	0.448																																																1	Substitution - coding silent(1)	ovary(1)	14											160.0	143.0	149.0					14																	21052340		2203	4300	6503	20122180	SO:0001819	synonymous_variant	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.294C>T	14.37:g.21052340G>A			20122180		Silent	SNP	ENST00000610205.1	37	CCDS9553.1	SNP	46	Baylor																																																																																				0.448	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		Silent
PPP6R3	55291	hgsc.bcm.edu	37	11	68305203	68305203	+	Missense_Mutation	SNP	T	T	G			TCGA-57-1582-01	TCGA-57-1582-11	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr11:68305203T>G	ENST00000393800.2	+	3	325	c.71T>G	c.(70-72)cTg>cGg	p.L24R	PPP6R3_ENST00000529710.1_Missense_Mutation_p.L24R|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L24R|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L24R|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L24R|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L24R|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L24R|PPP6R3_ENST00000393799.2_Missense_Mutation_p.L24R|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L24R	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	24					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L24R(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GATGTAACACTGAAGGAGTTA	0.353																																																1	Substitution - Missense(1)	ovary(1)	11											95.0	87.0	90.0					11																	68305203		2200	4294	6494	68061779	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.71T>G	11.37:g.68305203T>G	ENSP00000377389:p.Leu24Arg		68061779	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	SNP	55	Baylor	.	.	.	.	.	.	.	.	.	.	T	24.2	4.502534	0.85176	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000533127;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;0.998;0.998;1.0;0.998	D	0.93496	0.6840	9	.	.	.	.	14.3003	0.66341	0.0:0.0:0.0:1.0	.	24;24;24;24;24;24	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	R	24	ENSP00000377388:L24R;ENSP00000377389:L24R;ENSP00000433768:L24R;ENSP00000433551:L24R;ENSP00000431415:L24R;ENSP00000265637:L24R;ENSP00000433058:L24R;ENSP00000377390:L24R;ENSP00000265636:L24R;ENSP00000437329:L24R;ENSP00000433565:L24R;ENSP00000432837:L24R	.	L	+	2	0	PPP6R3	68061779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.774000	0.85478	1.973000	0.57446	0.455000	0.32223	CTG		0.353	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		Missense_Mutation
SHROOM4	57477	hgsc.bcm.edu	37	X	50378508	50378508	+	Missense_Mutation	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chrX:50378508C>T	ENST00000289292.7	-	4	848	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A189T|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A73T			Q9ULL8	SHRM4_HUMAN	shroom family member 4	189					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.A189T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCTGTAGGCTGAGTCACGC	0.567																																																1	Substitution - Missense(1)	ovary(1)	X											79.0	50.0	60.0					X																	50378508		2203	4300	6503	50395248	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.565G>A	X.37:g.50378508C>T	ENSP00000289292:p.Ala189Thr		50395248	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	SNP	28	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170539	0.57584	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.64618	0.08;0.08;-0.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.82056	2.57	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.83103	-0.0127	10	0.87932	D	0	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	189	Q9ULL8	SHRM4_HUMAN	T	189;189;73	ENSP00000289292:A189T;ENSP00000365188:A189T;ENSP00000421450:A73T	ENSP00000289292:A189T	A	-	1	0	SHROOM4	50395248	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.244000	0.78228	2.574000	0.86865	0.600000	0.82982	GCC		0.567	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		Missense_Mutation
SLC2A9	56606	hgsc.bcm.edu	37	4	9922141	9922141	+	Silent	SNP	C	C	G			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr4:9922141C>G	ENST00000264784.3	-	7	923	c.870G>C	c.(868-870)ctG>ctC	p.L290L	SLC2A9_ENST00000506583.1_Silent_p.L261L|RP13-560N11.1_ENST00000504249.1_RNA|SLC2A9_ENST00000309065.3_Silent_p.L261L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	290					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.L261L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GGCTCTCAGCCAGGACCTCCT	0.577																																																1	Substitution - coding silent(1)	ovary(1)	4											59.0	53.0	55.0					4																	9922141		2203	4300	6503	9531239	SO:0001819	synonymous_variant	56606			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.870G>C	4.37:g.9922141C>G			9531239	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	CCDS3407.1	SNP	21	Baylor																																																																																				0.577	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			Silent
SLC7A2	6542	hgsc.bcm.edu	37	8	17401015	17401015	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr8:17401015C>A	ENST00000494857.1	+	3	385	c.167C>A	c.(166-168)gCt>gAt	p.A56D	SLC7A2_ENST00000470360.1_Missense_Mutation_p.A96D|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A56D|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A96D|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A96D	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	56					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A56D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TATGTCCTCGCTGGGGAGGTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	8											65.0	54.0	57.0					8																	17401015		2203	4300	6503	17445394	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.167C>A	8.37:g.17401015C>A	ENSP00000419140:p.Ala56Asp		17445394	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	SNP	28	Baylor	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631176	0.67015	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.81914	0.988;0.988;0.995	D	0.97250	0.9897	10	0.87932	D	0	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	96;96;56	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	D	56;56;96;96;96	ENSP00000419140:A56D;ENSP00000430464:A56D;ENSP00000419873:A96D;ENSP00000004531:A96D;ENSP00000381164:A96D	ENSP00000004531:A96D	A	+	2	0	SLC7A2	17445394	1.000000	0.71417	0.084000	0.20598	0.040000	0.13550	7.783000	0.85696	2.832000	0.97577	0.655000	0.94253	GCT		0.587	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		Missense_Mutation
SMC2	10592	hgsc.bcm.edu	37	9	106887380	106887380	+	Missense_Mutation	SNP	A	A	C			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr9:106887380A>C	ENST00000286398.7	+	18	2733	c.2445A>C	c.(2443-2445)aaA>aaC	p.K815N	SMC2_ENST00000303219.8_Missense_Mutation_p.K815N|SMC2_ENST00000374787.3_Missense_Mutation_p.K815N|SMC2_ENST00000374793.3_Missense_Mutation_p.K815N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	815					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.K815N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGAAAGAAAAACAACAGGTAA	0.373																																																1	Substitution - Missense(1)	ovary(1)	9											85.0	93.0	90.0					9																	106887380		2203	4300	6503	105927201	SO:0001583	missense	10592			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2445A>C	9.37:g.106887380A>C	ENSP00000286398:p.Lys815Asn		105927201	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	SNP	2	Baylor	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356405	0.61293	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.93	-1.59	0.08453	.	0.044972	0.85682	D	0.000000	T	0.78084	0.4228	M	0.83603	2.65	0.44181	D	0.996995	P	0.41188	0.741	P	0.44422	0.449	T	0.75880	-0.3161	10	0.48119	T	0.1	-14.949	10.0634	0.42288	0.4059:0.0:0.5941:0.0	.	815	O95347	SMC2_HUMAN	N	815	ENSP00000286398:K815N;ENSP00000363925:K815N;ENSP00000306152:K815N;ENSP00000363919:K815N	ENSP00000286398:K815N	K	+	3	2	SMC2	105927201	0.999000	0.42202	0.997000	0.53966	0.939000	0.58152	0.507000	0.22675	-0.138000	0.11434	0.482000	0.46254	AAA		0.373	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			Missense_Mutation
SNCAIP	9627	hgsc.bcm.edu	37	5	121786273	121786273	+	Silent	SNP	A	A	G			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr5:121786273A>G	ENST00000261368.8	+	10	1993	c.1731A>G	c.(1729-1731)ccA>ccG	p.P577P	SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261367.7_Silent_p.P624P|SNCAIP_ENST00000379536.2_Silent_p.P517P|SNCAIP_ENST00000379538.3_Silent_p.P211P|SNCAIP_ENST00000379533.2_Silent_p.P624P|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.P179P|SNCAIP_ENST00000542191.1_Silent_p.P135P|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	577					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.P577P(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGAAATCTCCAGATGCAGATG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	5											112.0	126.0	122.0					5																	121786273		2203	4299	6502	121814172	SO:0001819	synonymous_variant	9627			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1731A>G	5.37:g.121786273A>G			121814172	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1	SNP	7	Baylor																																																																																				0.488	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			Silent
SPINT2	10653	hgsc.bcm.edu	37	19	38774400	38774400	+	Silent	SNP	C	C	T	rs112235785		TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr19:38774400C>T	ENST00000301244.7	+	2	675	c.240C>T	c.(238-240)acC>acT	p.T80T	SPINT2_ENST00000587090.1_Silent_p.T30T|SPINT2_ENST00000454580.3_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	80	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T80T(1)		large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTACCTGACCAAGGAGGAGT	0.453																																																1	Substitution - coding silent(1)	ovary(1)	19											112.0	88.0	96.0					19																	38774400		2203	4300	6503	43466240	SO:0001819	synonymous_variant	10653			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.240C>T	19.37:g.38774400C>T			43466240	A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Silent	SNP	ENST00000301244.7	37	CCDS12510.1	SNP	21	Baylor																																																																																				0.453	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			Silent
STAB2	55576	hgsc.bcm.edu	37	12	104136182	104136182	+	Splice_Site	SNP	G	G	C			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:104136182G>C	ENST00000388887.2	+	56	6085		c.e56-1			NM_017564.9	NP_060034.9			stabilin 2									p.?(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCTCTTCCAGCCTGCCCTGG	0.537																																																1	Unknown(1)	ovary(1)	12											108.0	98.0	102.0					12																	104136182		2203	4300	6503	102660312	SO:0001630	splice_region_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5882-1G>C	12.37:g.104136182G>C			102660312		Splice_Site_SNP	SNP	ENST00000388887.2	37	CCDS31888.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478824	0.84747	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7414	0.91774	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB2	102660312	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.921000	0.92784	2.396000	0.81511	0.563000	0.77884	.		0.537	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Intron	Splice_Site_SNP
SYT6	148281	hgsc.bcm.edu	37	1	114680339	114680339	+	Silent	SNP	G	G	A			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr1:114680339G>A	ENST00000610222.1	-	3	995	c.849C>T	c.(847-849)acC>acT	p.T283T	SYT6_ENST00000609117.1_Silent_p.T198T|SYT6_ENST00000393296.1_Silent_p.T283T|SYT6_ENST00000369547.1_Silent_p.T198T|SYT6_ENST00000607941.1_Silent_p.T198T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	283	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.T198T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGCACCCGGGTCTGCAGCT	0.552																																																1	Substitution - coding silent(1)	ovary(1)	1											130.0	122.0	125.0					1																	114680339		2203	4300	6503	114481862	SO:0001819	synonymous_variant	148281				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.849C>T	1.37:g.114680339G>A			114481862	B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37		SNP	43	Baylor																																																																																				0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		Silent
TLR8	51311	hgsc.bcm.edu	37	X	12938670	12938670	+	Missense_Mutation	SNP	T	T	A			TCGA-57-1582-01	TCGA-57-1582-11	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chrX:12938670T>A	ENST00000218032.6	+	2	1598	c.1511T>A	c.(1510-1512)cTt>cAt	p.L504H	TLR8_ENST00000311912.5_Missense_Mutation_p.L522H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	504					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L522H(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTTGAAAATCTTCCTGACATT	0.373																																																1	Substitution - Missense(1)	ovary(1)	X											47.0	45.0	45.0					X																	12938670		2203	4300	6503	12848591	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1511T>A	X.37:g.12938670T>A	ENSP00000218032:p.Leu504His		12848591	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	SNP	56	Baylor	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457380	0.26161	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	D;D	0.82893	-1.66;-1.66	5.97	5.97	0.96955	.	0.184908	0.26099	N	0.026349	D	0.89739	0.6802	M	0.86953	2.85	0.09310	N	1	D;D	0.57899	0.981;0.981	P;P	0.53185	0.72;0.72	D	0.85547	0.1219	10	0.87932	D	0	.	15.3964	0.74798	0.0:0.0:0.0:1.0	.	504;522	Q9NR97;D1CS70	TLR8_HUMAN;.	H	504;522	ENSP00000218032:L504H;ENSP00000312082:L522H	ENSP00000218032:L504H	L	+	2	0	TLR8	12848591	0.340000	0.24792	0.020000	0.16555	0.151000	0.21798	3.284000	0.51708	2.020000	0.59435	0.486000	0.48141	CTT		0.373	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		Missense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-57-1582-01	TCGA-57-1582-11	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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"""	94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	17	GRCh37	CM004907	TP53	M							126.0	100.0	109.0					17																	7577574		2203	4300	6503	7518299	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys		7518299	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	SNP	57	Baylor	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
TTK	7272	hgsc.bcm.edu	37	6	80747707	80747707	+	Silent	SNP	A	A	C			TCGA-57-1582-01	TCGA-57-1582-11	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr6:80747707A>C	ENST00000369798.2	+	18	2184	c.2073A>C	c.(2071-2073)ccA>ccC	p.P691P	TTK_ENST00000509894.1_Silent_p.P690P|TTK_ENST00000230510.3_Silent_p.P690P	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.P675P(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATTATATGCCACCAGAAGCAA	0.313																																																1	Substitution - coding silent(1)	ovary(1)	6											57.0	55.0	56.0					6																	80747707		2203	4298	6501	80804426	SO:0001819	synonymous_variant	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2073A>C	6.37:g.80747707A>C			80804426	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	ENST00000369798.2	37	CCDS4993.1	SNP	6	Baylor																																																																																				0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			Silent
UQCR11	10975	hgsc.bcm.edu	37	19	1599447	1599447	+	Missense_Mutation	SNP	C	C	G			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr19:1599447C>G	ENST00000591899.3	-	2	234	c.163G>C	c.(163-165)Gat>Cat	p.D55H	UQCR11_ENST00000585937.1_Missense_Mutation_p.D55H|UQCR11_ENST00000589880.1_Missense_Mutation_p.D55H|UQCR11_ENST00000585671.1_Missense_Mutation_p.D55H|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	55					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.D55H(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5						AATTAATTATCCTTCTTAAAC	0.562																																																1	Substitution - Missense(1)	ovary(1)	19											92.0	85.0	87.0					19																	1599447		2203	4300	6503	1550447	SO:0001583	missense	10975			D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"""Mitochondrial respiratory chain complex / Complex III"""	30862	protein-coding gene	gene with protein product	"""complex III subunit 10"""	609711	"""ubiquinol-cytochrome c reductase, 6.4kDa subunit"""	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.163G>C	19.37:g.1599447C>G	ENSP00000467262:p.Asp55His		1550447	B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Missense_Mutation	SNP	ENST00000591899.3	37	CCDS12073.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978550	0.53720	.	.	ENSG00000127540	ENST00000262946	.	.	.	4.78	4.78	0.61160	.	0.065862	0.56097	D	0.000030	T	0.78679	0.4321	.	.	.	0.44073	D	0.99682	D	0.89917	1.0	D	0.73708	0.981	T	0.82102	-0.0623	8	0.87932	D	0	-25.8104	14.9631	0.71171	0.0:1.0:0.0:0.0	.	55	O14957	QCR10_HUMAN	H	55	.	ENSP00000262946:D55H	D	-	1	0	UQCR11	1550447	0.996000	0.38824	0.981000	0.43875	0.066000	0.16364	1.846000	0.39289	2.200000	0.70718	0.655000	0.94253	GAT		0.562	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449668.3	NM_006830		Missense_Mutation
VWF	7450	hgsc.bcm.edu	37	12	6077331	6077331	+	Missense_Mutation	SNP	G	G	C	rs369970893		TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:6077331G>C	ENST00000261405.5	-	46	7986	c.7732C>G	c.(7732-7734)Cgc>Ggc	p.R2578G		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2578					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R2578G(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTCCATGCGCTCTGGGGGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	12											82.0	73.0	76.0					12																	6077331		2203	4300	6503	5947592	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7732C>G	12.37:g.6077331G>C	ENSP00000261405:p.Arg2578Gly		5947592	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	SNP	38	Baylor	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489378	0.26686	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.73	4.73	0.59995	.	0.387849	0.19600	N	0.110410	T	0.21674	0.0522	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06373	-1.0830	10	0.72032	D	0.01	.	13.3986	0.60870	0.0:0.0:1.0:0.0	.	2578	P04275	VWF_HUMAN	G	2578	ENSP00000261405:R2578G	ENSP00000261405:R2578G	R	-	1	0	VWF	5947592	1.000000	0.71417	0.993000	0.49108	0.218000	0.24690	2.736000	0.47385	2.615000	0.88500	0.555000	0.69702	CGC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		Missense_Mutation
USP5	8078	hgsc.bcm.edu	37	12	6970774	6970774	+	Missense_Mutation	SNP	G	G	T			TCGA-57-1582-01	TCGA-57-1582-11	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr12:6970774G>T	ENST00000229268.8	+	13	1718	c.1666G>T	c.(1666-1668)Gct>Tct	p.A556S	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.A556S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	556	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CAAGTCAGTAGCTGTCAAGTA	0.597																																																0			12											35.0	37.0	36.0					12																	6970774		2203	4300	6503	6841035	SO:0001583	missense	8078			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1666G>T	12.37:g.6970774G>T	ENSP00000229268:p.Ala556Ser		6841035	D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	CCDS41743.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	33	5.273975	0.95459	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.78003	-1.14;-1.14	5.19	5.19	0.71726	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.86936	0.6053	M	0.73372	2.23	0.80722	D	1	P;D	0.71674	0.908;0.998	P;D	0.70016	0.777;0.967	D	0.84716	0.0737	10	0.32370	T	0.25	.	18.8999	0.92439	0.0:0.0:1.0:0.0	.	556;556	P45974;P45974-2	UBP5_HUMAN;.	S	556	ENSP00000229268:A556S;ENSP00000373883:A556S	ENSP00000229268:A556S	A	+	1	0	USP5	6841035	1.000000	0.71417	0.862000	0.33874	0.970000	0.65996	9.657000	0.98554	2.700000	0.92200	0.561000	0.74099	GCT		0.597	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			Missense_Mutation
XRCC1	7515	hgsc.bcm.edu	37	19	44051129	44051129	+	Splice_Site	SNP	C	C	T			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr19:44051129C>T	ENST00000262887.5	-	11	1747	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	XRCC1_ENST00000543982.1_Splice_Site_p.R369R			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	400	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)	p.R400R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CCATGAGGTACCTAGGGGACA	0.567								Other BER factors																																								1	Substitution - coding silent(1)	ovary(1)	19											47.0	46.0	46.0					19																	44051129		2203	4300	6503	48742969	SO:0001630	splice_region_variant	7515			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1200-1G>A	19.37:g.44051129C>T			48742969	Q6IBS4|Q9HCB1	Silent	SNP	ENST00000262887.5	37	CCDS12624.1	SNP	18	Baylor																																																																																				0.567	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297	Silent	Silent
ZNF804B	219578	hgsc.bcm.edu	37	7	88963746	88963746	+	Missense_Mutation	SNP	C	C	A			TCGA-57-1582-01	TCGA-57-1582-11	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-57-1582-01	TCGA-57-1582-11	g.chr7:88963746C>A	ENST00000333190.4	+	4	2059	c.1450C>A	c.(1450-1452)Ctt>Att	p.L484I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	484							metal ion binding (GO:0046872)	p.L484I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGATTTTAAGCTTTCTCGGAA	0.423										HNSCC(36;0.09)																																						1	Substitution - Missense(1)	ovary(1)	7											50.0	51.0	51.0					7																	88963746		2203	4299	6502	88801682	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1450C>A	7.37:g.88963746C>A	ENSP00000329638:p.Leu484Ile		88801682	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	SNP	28	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618445	0.46736	.	.	ENSG00000182348	ENST00000333190	T	0.06528	3.29	5.49	4.61	0.57282	.	0.442309	0.21471	N	0.073982	T	0.09158	0.0226	M	0.76328	2.33	0.30891	N	0.730365	B	0.31680	0.335	B	0.26614	0.071	T	0.03139	-1.1068	10	0.46703	T	0.11	-6.9896	9.2362	0.37468	0.1466:0.7818:0.0:0.0717	.	484	A4D1E1	Z804B_HUMAN	I	484	ENSP00000329638:L484I	ENSP00000329638:L484I	L	+	1	0	ZNF804B	88801682	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.855000	0.48333	1.529000	0.49120	0.655000	0.94253	CTT		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		Missense_Mutation
