#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CARD11	84433	hgsc.bcm.edu	37	7	2958154	2958154	+	Missense_Mutation	SNP	C	C	T	rs368181734	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:2958154C>T	ENST00000396946.4	-	19	2981	c.2578G>A	c.(2578-2580)Ggc>Agc	p.G860S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	860					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGTGGGTGCCGTCTACCTCC	0.667			Mis		DLBCL								C|||	5	0.000998403	0.0	0.0	5008	,	,		15292	0.0		0.0	False		,,,				2504	0.0051							Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0			7						C	SER/GLY	0,4130		0,0,2065	22.0	19.0	20.0		2578	-7.1	0.0	7		20	1,8037		0,1,4018	no	missense	CARD11	NM_032415.4	56	0,1,6083	TT,TC,CC		0.0124,0.0,0.0082	benign	860/1155	2958154	1,12167	2065	4019	6084	2924680	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2578G>A	7.37:g.2958154C>T	ENSP00000380150:p.Gly860Ser		2924680	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.466329	0.01053	0.0	1.24E-4	ENSG00000198286	ENST00000396946	T	0.28454	1.61	4.67	-7.13	0.01532	.	2.683750	0.02112	N	0.054864	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	10	0.08837	T	0.75	-0.805	6.3159	0.21190	0.0:0.3758:0.2542:0.37	.	860	Q9BXL7	CAR11_HUMAN	S	860	ENSP00000380150:G860S	ENSP00000380150:G860S	G	-	1	0	CARD11	2924680	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.519000	0.22862	-1.822000	0.01211	-0.479000	0.04858	GGC		0.667	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
CARD11	84433	hgsc.bcm.edu	37	7	2983959	2983959	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:2983959T>C	ENST00000396946.4	-	5	974	c.571A>G	c.(571-573)Aat>Gat	p.N191D	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	191					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGCTCGTCATTGTAGCTGTCC	0.552			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0			7											262.0	159.0	194.0					7																	2983959		2203	4300	6503	2950485	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.571A>G	7.37:g.2983959T>C	ENSP00000380150:p.Asn191Asp		2950485	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559359	0.65538	.	.	ENSG00000198286	ENST00000396946	T	0.33865	1.39	4.36	4.36	0.52297	.	0.053045	0.85682	D	0.000000	T	0.28995	0.0720	L	0.40543	1.245	0.46478	D	0.999068	B	0.29378	0.243	B	0.23275	0.045	T	0.07616	-1.0763	10	0.35671	T	0.21	-30.901	13.8596	0.63552	0.0:0.0:0.0:1.0	.	191	Q9BXL7	CAR11_HUMAN	D	191	ENSP00000380150:N191D	ENSP00000380150:N191D	N	-	1	0	CARD11	2950485	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	7.484000	0.81180	1.736000	0.51660	0.459000	0.35465	AAT		0.552	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
PMS2	5395	hgsc.bcm.edu	37	7	6038886	6038886	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:6038886C>T	ENST00000265849.7	-	6	663	c.558G>A	c.(556-558)caG>caA	p.Q186Q	PMS2_ENST00000406569.3_Silent_p.Q186Q|PMS2_ENST00000441476.2_Silent_p.Q80Q|PMS2_ENST00000382321.4_Silent_p.Q186Q|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	186					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CATGTAAGACCTGGACCATTT	0.393			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0			7											135.0	123.0	127.0					7																	6038886		2203	4300	6503	6005412	SO:0001819	synonymous_variant	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.558G>A	7.37:g.6038886C>T			6005412	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																				0.393	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
MIOS	54468	hgsc.bcm.edu	37	7	7646629	7646629	+	Missense_Mutation	SNP	A	A	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:7646629A>T	ENST00000340080.4	+	13	2955	c.2534A>T	c.(2533-2535)gAc>gTc	p.D845V	MIOS_ENST00000405785.1_Missense_Mutation_p.D845V	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	845						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTTTAGGGACCATGCAGAG	0.368																																																	0			7											81.0	77.0	78.0					7																	7646629		1848	4096	5944	7613154	SO:0001583	missense	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2534A>T	7.37:g.7646629A>T	ENSP00000339881:p.Asp845Val		7613154	B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726169	0.48833	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.45668	0.89;0.89	5.11	5.11	0.69529	.	0.091916	0.85682	D	0.000000	T	0.38719	0.1051	L	0.55990	1.75	0.80722	D	1	B;B	0.19706	0.038;0.038	B;B	0.25614	0.062;0.062	T	0.28522	-1.0041	10	0.46703	T	0.11	-18.2541	9.8198	0.40876	0.9234:0.0:0.0766:0.0	.	845;845	B4DGE7;Q9NXC5	.;MIO_HUMAN	V	845	ENSP00000339881:D845V;ENSP00000384088:D845V	ENSP00000339881:D845V	D	+	2	0	MIOS	7613154	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.902000	0.75699	2.270000	0.75569	0.533000	0.62120	GAC		0.368	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005	
DNAH11	8701	hgsc.bcm.edu	37	7	21847577	21847577	+	Silent	SNP	G	G	A	rs559218045	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:21847577G>A	ENST00000409508.3	+	63	10273	c.10242G>A	c.(10240-10242)acG>acA	p.T3414T	DNAH11_ENST00000328843.6_Silent_p.T3421T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3421					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCTTCTCACGGCGGCATTTG	0.478									Kartagener syndrome				G|||	2	0.000399361	0.0	0.0	5008	,	,		18307	0.0		0.0	False		,,,				2504	0.002																0			7											63.0	63.0	63.0					7																	21847577		1918	4127	6045	21814102	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10242G>A	7.37:g.21847577G>A			21814102	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37																																																																																					0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
GHRHR	2692	hgsc.bcm.edu	37	7	31008526	31008526	+	Silent	SNP	A	A	G	rs201978703		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:31008526A>G	ENST00000326139.2	+	2	181	c.135A>G	c.(133-135)gcA>gcG	p.A45A	GHRHR_ENST00000409316.1_5'Flank|GHRHR_ENST00000409904.3_5'Flank	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	45			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TACAAGCAGCAGAGGAGATGC	0.542																																																	0			7											120.0	98.0	106.0					7																	31008526		2203	4300	6503	30975051	SO:0001819	synonymous_variant	2692				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.135A>G	7.37:g.31008526A>G			30975051	Q99863	Silent	SNP	ENST00000326139.2	37	CCDS5432.1																																																																																				0.542	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
STARD3NL	83930	hgsc.bcm.edu	37	7	38256633	38256633	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:38256633C>T	ENST00000009041.7	+	5	646	c.389C>T	c.(388-390)aCg>aTg	p.T130M	STARD3NL_ENST00000544203.1_Missense_Mutation_p.T123M|STARD3NL_ENST00000434197.1_Intron|STARD3NL_ENST00000396013.1_Missense_Mutation_p.T130M	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	130	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.T130M(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						CAGTTGACAACGGCAGTGACC	0.478																																																	1	Substitution - Missense(1)	ovary(1)	7											298.0	259.0	272.0					7																	38256633		2203	4300	6503	38223158	SO:0001583	missense	83930			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.389C>T	7.37:g.38256633C>T	ENSP00000009041:p.Thr130Met		38223158	A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884854	0.91814	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.79	5.79	0.91817	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83524	0.0087	10	0.66056	D	0.02	-19.5212	18.8126	0.92064	0.0:1.0:0.0:0.0	.	130	O95772	MENTO_HUMAN	M	130;123;130;130;130;130	ENSP00000009041:T130M;ENSP00000439436:T123M;ENSP00000379334:T130M;ENSP00000411933:T130M;ENSP00000395455:T130M;ENSP00000402028:T130M	ENSP00000009041:T130M	T	+	2	0	STARD3NL	38223158	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.202000	0.77856	2.739000	0.93911	0.655000	0.94253	ACG		0.478	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2		
GCK	2645	hgsc.bcm.edu	37	7	44184850	44184850	+	Missense_Mutation	SNP	C	C	T	rs193922275|rs193922274		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:44184850C>T	ENST00000403799.3	-	10	1752	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GCK_ENST00000345378.2_Missense_Mutation_p.R429H|GCK_ENST00000437084.1_Missense_Mutation_p.R411H|GCK_ENST00000395796.3_Missense_Mutation_p.R427H	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	428	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGTCAGCCTGCGCACGCTGGC	0.662																																																	0			7											26.0	29.0	28.0					7																	44184850		2203	4300	6503	44151375	SO:0001583	missense	5871			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1283G>A	7.37:g.44184850C>T	ENSP00000384247:p.Arg428His		44151375	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814880	0.70912	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	5.83	5.83	0.93111	Hexokinase, C-terminal (1);	0.186889	0.47093	D	0.000256	D	0.94076	0.8101	L	0.55213	1.73	0.49582	D	0.999804	B;B;B;B;B	0.24920	0.065;0.082;0.024;0.1;0.114	B;B;B;B;B	0.17722	0.007;0.007;0.002;0.019;0.01	D	0.90990	0.4834	10	0.48119	T	0.1	-43.1941	13.0101	0.58727	0.0:0.9257:0.0:0.0743	.	428;429;427;411;428	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	H	112;428;427;429;411	ENSP00000338009:R112H;ENSP00000384247:R428H;ENSP00000379142:R427H;ENSP00000223366:R429H;ENSP00000402840:R411H	ENSP00000338009:R112H	R	-	2	0	GCK	44151375	0.605000	0.26941	1.000000	0.80357	0.847000	0.48162	3.381000	0.52455	2.756000	0.94617	0.561000	0.74099	CGC		0.662	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
HUS1	3364	hgsc.bcm.edu	37	7	48007443	48007443	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:48007443A>G	ENST00000258774.5	-	7	743	c.720T>C	c.(718-720)ttT>ttC	p.F240F	HUS1_ENST00000432325.1_Silent_p.F219F	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	240					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GTCCAGCAAGAAACTGTAGGA	0.398								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)												0			7											176.0	156.0	163.0					7																	48007443		2203	4300	6503	47973968	SO:0001819	synonymous_variant	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.720T>C	7.37:g.48007443A>G			47973968	B4DFI9	Silent	SNP	ENST00000258774.5	37	CCDS34635.1																																																																																				0.398	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507	
ZNF679	168417	hgsc.bcm.edu	37	7	63721253	63721253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:63721253C>T	ENST00000421025.1	+	4	477	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.Q70*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CTGTCTGGAGCAAAATAAAGA	0.378																																																	0			7											119.0	105.0	109.0					7																	63721253		692	1591	2283	63358688	SO:0001587	stop_gained	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.208C>T	7.37:g.63721253C>T	ENSP00000416809:p.Gln70*		63358688		Nonsense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	C	6.117	0.389913	0.11581	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	.	.	.	.	.	.	.	X	70	.	ENSP00000255746:Q70X	Q	+	1	0	ZNF679	63358688	0.115000	0.22152	0.030000	0.17652	0.032000	0.12392	-0.068000	0.11561	-0.808000	0.04387	-0.802000	0.03209	CAA		0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363	
MEPCE	56257	hgsc.bcm.edu	37	7	100028938	100028938	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:100028938C>T	ENST00000310512.2	+	1	1685	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	433	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAGGATGGGCGCCTTCGGGT	0.562																																																	0			7											79.0	71.0	73.0					7																	100028938		2203	4300	6503	99866874	SO:0001583	missense	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1297C>T	7.37:g.100028938C>T	ENSP00000308546:p.Arg433Cys		99866874	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306845	0.60305	.	.	ENSG00000146834	ENST00000310512	T	0.24723	1.84	4.83	2.87	0.33458	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.34129	-0.9841	10	0.87932	D	0	-15.1851	7.6137	0.28145	0.173:0.7329:0.0:0.0942	.	433	Q7L2J0	MEPCE_HUMAN	C	433	ENSP00000308546:R433C	ENSP00000308546:R433C	R	+	1	0	MEPCE	99866874	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	2.711000	0.47177	1.267000	0.44247	0.462000	0.41574	CGC		0.562	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1		
ZNF277	11179	hgsc.bcm.edu	37	7	111936291	111936291	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:111936291A>G	ENST00000361822.3	+	4	519	c.390A>G	c.(388-390)caA>caG	p.Q130Q	ZNF277_ENST00000450657.1_Silent_p.Q130Q	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	130					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAGAAGAACAAGAGAATTATT	0.308																																																	0			7											57.0	62.0	60.0					7																	111936291		2198	4283	6481	111723527	SO:0001819	synonymous_variant	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.390A>G	7.37:g.111936291A>G			111723527	Q75MZ2|Q75MZ3|Q8WY14	Silent	SNP	ENST00000361822.3	37	CCDS5755.2																																																																																				0.308	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	
KCND2	3751	hgsc.bcm.edu	37	7	120373037	120373037	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:120373037C>T	ENST00000331113.4	+	2	2161	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	399					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTGGTCATTGCTCTACCTGTT	0.448																																																	0			7											185.0	158.0	168.0					7																	120373037		2203	4300	6503	120160273	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1196C>T	7.37:g.120373037C>T	ENSP00000333496:p.Ala399Val		120160273	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645957	0.96704	.	.	ENSG00000184408	ENST00000331113	D	0.98862	-5.19	5.41	5.41	0.78517	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	M	0.90198	3.095	0.58432	D	0.999995	P	0.51351	0.944	D	0.62955	0.909	D	0.99204	1.0874	9	.	.	.	.	18.807	0.92041	0.0:1.0:0.0:0.0	.	399	Q9NZV8	KCND2_HUMAN	V	399	ENSP00000333496:A399V	.	A	+	2	0	KCND2	120160273	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.783000	0.85696	2.530000	0.85305	0.655000	0.94253	GCT		0.448	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
DENND2A	27147	hgsc.bcm.edu	37	7	140287514	140287514	+	Silent	SNP	C	C	T	rs201968906		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:140287514C>T	ENST00000275884.6	-	3	1479	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	DENND2A_ENST00000496613.1_Silent_p.A354A|DENND2A_ENST00000492720.1_Silent_p.A354A|DENND2A_ENST00000537639.1_Silent_p.A354A			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	354					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GCTTAGTCTGCGCGTACCAGT	0.493																																																	0			7						C		1,4055		0,1,2027	85.0	89.0	87.0		1062	-6.2	1.0	7		87	0,8360		0,0,4180	no	coding-synonymous	DENND2A	NM_015689.3		0,1,6207	TT,TC,CC		0.0,0.0247,0.0081		354/1010	140287514	1,12415	2028	4180	6208	139933983	SO:0001819	synonymous_variant	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1062G>A	7.37:g.140287514C>T			139933983	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.493	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
BRAF	673	hgsc.bcm.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358|rs397516890|rs121913355		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	42	Substitution - Missense(42)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	7	GRCh37	CM060876	BRAF	M	rs121913355						174.0	149.0	158.0					7																	140481402		2203	4300	6503	140127871	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>C	7.37:g.140481402C>G	ENSP00000288602:p.Gly469Ala		140127871	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088365|5.088365	0.94100|0.94100	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.89415	.|-2.51	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92008|0.92008	0.7468|0.7468	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58210	.|0.835	D|D	0.92595|0.92595	0.6086|0.6086	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	Q|A	77|469	.|ENSP00000288602:G469A	.|ENSP00000288602:G469A	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
OR2A25	392138	hgsc.bcm.edu	37	7	143771517	143771517	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:143771517G>A	ENST00000408898.2	+	1	243	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGCGGTCGTCGACATCGCCTG	0.577																																																	0			7											80.0	81.0	80.0					7																	143771517		2203	4300	6503	143402450	SO:0001583	missense	392138				CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.205G>A	7.37:g.143771517G>A	ENSP00000386167:p.Asp69Asn		143402450	B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515090	0.64634	.	.	ENSG00000221933	ENST00000408898	T	0.01165	5.24	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10680	0.0261	M	0.93939	3.475	0.51482	D	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.00465	-1.1723	9	0.87932	D	0	-9.9501	15.5662	0.76294	0.0:0.0:1.0:0.0	.	69	A4D2G3	O2A25_HUMAN	N	69	ENSP00000386167:D69N	ENSP00000386167:D69N	D	+	1	0	OR2A25	143402450	1.000000	0.71417	0.886000	0.34754	0.057000	0.15508	9.417000	0.97391	2.531000	0.85337	0.563000	0.77884	GAC		0.577	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1		
PLCG1	5335	hgsc.bcm.edu	37	20	39793963	39793963	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr20:39793963T>C	ENST00000373271.1	+	14	1870	c.1465T>C	c.(1465-1467)Tct>Cct	p.S489P	PLCG1_ENST00000244007.3_Missense_Mutation_p.S489P|PLCG1_ENST00000373272.2_Missense_Mutation_p.S489P	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	489	PH 2; first part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CATCAGCAACTCTATCAAGAA	0.582																																																	0			20											107.0	97.0	100.0					20																	39793963		2203	4300	6503	39227377	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1465T>C	20.37:g.39793963T>C	ENSP00000362368:p.Ser489Pro		39227377	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287719	0.80803	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.68181	-0.31;-0.31;-0.31	5.13	4.04	0.47022	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.102825	0.64402	D	0.000001	T	0.74442	0.3717	M	0.70275	2.135	0.80722	D	1	D;D;D	0.62365	0.991;0.985;0.985	P;P;P	0.58721	0.844;0.781;0.703	T	0.72276	-0.4341	10	0.31617	T	0.26	.	10.7166	0.46015	0.0:0.0744:0.0:0.9256	.	489;489;489	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	P	489	ENSP00000244007:S489P;ENSP00000362368:S489P;ENSP00000362369:S489P	ENSP00000244007:S489P	S	+	1	0	PLCG1	39227377	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.331000	0.79192	0.990000	0.38787	0.533000	0.62120	TCT		0.582	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
ZNF831	128611	hgsc.bcm.edu	37	20	57766734	57766734	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr20:57766734C>T	ENST00000371030.2	+	1	660	c.660C>T	c.(658-660)gcC>gcT	p.A220A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	220							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGACAAGGCCGGAGAGCCCC	0.701																																																	0			20											24.0	31.0	29.0					20																	57766734		1870	4098	5968	57200129	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.660C>T	20.37:g.57766734C>T			57200129	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
CDH4	1002	hgsc.bcm.edu	37	20	60504710	60504710	+	Silent	SNP	C	C	T	rs201703403		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr20:60504710C>T	ENST00000360469.5	+	13	2137	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	CDH4_ENST00000543233.1_Silent_p.A609A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A683A(2)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTGGAGGCCGGGATGTATG	0.547																																																	2	Substitution - coding silent(2)	breast(2)	20											140.0	105.0	117.0					20																	60504710		2203	4300	6503	59938105	SO:0001819	synonymous_variant	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2049C>T	20.37:g.60504710C>T			59938105	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
ZDHHC8	29801	hgsc.bcm.edu	37	22	20132830	20132830	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr22:20132830C>T	ENST00000334554.7	+	11	2346	c.2205C>T	c.(2203-2205)acC>acT	p.T735T	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Silent_p.T643T	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	735					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GACCTGCCACCGGCCCCCCAG	0.637																																																	0			22											59.0	68.0	65.0					22																	20132830		2202	4300	6502	18512830	SO:0001819	synonymous_variant	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2205C>T	22.37:g.20132830C>T			18512830	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	CCDS13776.1																																																																																				0.637	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373	
CSDC2	27254	hgsc.bcm.edu	37	22	41969714	41969714	+	Missense_Mutation	SNP	C	C	T	rs373284212		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr22:41969714C>T	ENST00000306149.7	+	3	776	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	78	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						GCAGTTCTCACGCTCACAGGG	0.612																																					NSCLC(181;294 2110 12667 14717 31090)												0			22											131.0	109.0	117.0					22																	41969714		2203	4300	6503	40299660	SO:0001583	missense	27254			AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.232C>T	22.37:g.41969714C>T	ENSP00000302485:p.Arg78Cys		40299660	Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701763	0.88924	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.41	5.41	0.78517	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87432	0.2389	9	0.62326	D	0.03	.	18.8152	0.92075	0.0:1.0:0.0:0.0	.	78	Q9Y534	CSDC2_HUMAN	C	78;61	.	ENSP00000302485:R78C	R	+	1	0	CSDC2	40299660	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.689000	0.61723	2.534000	0.85438	0.555000	0.69702	CGC		0.612	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460	
ZBED4	9889	hgsc.bcm.edu	37	22	50279382	50279382	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr22:50279382A>G	ENST00000216268.5	+	2	2549	c.2072A>G	c.(2071-2073)cAg>cGg	p.Q691R		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	691						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TTGAAACCTCAGTACTCCCTC	0.448																																																	0			22											110.0	115.0	114.0					22																	50279382		2203	4300	6503	48665386	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2072A>G	22.37:g.50279382A>G	ENSP00000216268:p.Gln691Arg		48665386	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401414	0.42613	.	.	ENSG00000100426	ENST00000216268	T	0.39406	1.08	5.36	4.32	0.51571	.	0.065867	0.64402	D	0.000006	T	0.31136	0.0787	L	0.37561	1.115	0.58432	D	0.999996	B	0.27656	0.184	B	0.26310	0.068	T	0.09530	-1.0670	10	0.27785	T	0.31	-28.2004	10.5939	0.45325	0.9247:0.0:0.0753:0.0	.	691	O75132	ZBED4_HUMAN	R	691	ENSP00000216268:Q691R	ENSP00000216268:Q691R	Q	+	2	0	ZBED4	48665386	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.028000	0.76470	2.017000	0.59298	0.533000	0.62120	CAG		0.448	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
MOV10L1	54456	hgsc.bcm.edu	37	22	50555769	50555769	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr22:50555769C>T	ENST00000262794.5	+	9	1526	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	MOV10L1_ENST00000545383.1_Silent_p.T481T|MOV10L1_ENST00000395858.3_Silent_p.T481T|MOV10L1_ENST00000540615.1_Silent_p.T461T|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	481					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGTTGTGACCGCACAGAAAA	0.473																																																	0			22											47.0	44.0	45.0					22																	50555769		2203	4300	6503	48897896	SO:0001819	synonymous_variant	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1443C>T	22.37:g.50555769C>T			48897896	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																				0.473	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
SYT16	83851	hgsc.bcm.edu	37	14	62547981	62547981	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr14:62547981A>G	ENST00000430451.2	+	4	1620	c.1423A>G	c.(1423-1425)Agt>Ggt	p.S475G	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	475					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGCCAAGAAGTAATATAAG	0.453																																																	0			14											24.0	25.0	25.0					14																	62547981		2069	4217	6286	61617734	SO:0001583	missense	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1423A>G	14.37:g.62547981A>G	ENSP00000394700:p.Ser475Gly		61617734	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729276	0.48833	.	.	ENSG00000139973	ENST00000430451	T	0.78246	-1.16	4.88	4.88	0.63580	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	M	0.69823	2.125	0.80722	D	1	B	0.33212	0.402	B	0.34590	0.186	T	0.77472	-0.2575	10	0.40728	T	0.16	-8.2862	14.9411	0.70994	1.0:0.0:0.0:0.0	.	475	Q17RD7	SYT16_HUMAN	G	475	ENSP00000394700:S475G	ENSP00000394700:S475G	S	+	1	0	SYT16	61617734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.725000	0.54970	2.164000	0.68074	0.533000	0.62120	AGT		0.453	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
MADCAM1	8174	hgsc.bcm.edu	37	19	501801	501801	+	Missense_Mutation	SNP	A	A	C	rs76476234		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:501801A>C	ENST00000215637.3	+	4	846	c.800A>C	c.(799-801)aAg>aCg	p.K267T	MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.K48T	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	267	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCCGACAAGACCTCCCCG	0.726																																																	0			19											12.0	14.0	13.0					19																	501801		2117	4144	6261	452801	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.800A>C	19.37:g.501801A>C	ENSP00000215637:p.Lys267Thr		452801	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	N	1.280	-0.610573	0.03690	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.09538	2.97	2.48	-2.54	0.06307	.	2.146880	0.03414	N	0.205240	T	0.03739	0.0106	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	10	0.13108	T	0.6	.	1.2163	0.01915	0.159:0.2278:0.1571:0.4562	.	267	Q13477	MADCA_HUMAN	T	291;283;275;267	ENSP00000215637:K267T	ENSP00000215637:K267T	K	+	2	0	MADCAM1	452801	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.457000	0.06745	-0.940000	0.03705	-1.725000	0.00704	AAG		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760	
MAP2K7	5609	hgsc.bcm.edu	37	19	7975192	7975192	+	Silent	SNP	C	C	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:7975192C>G	ENST00000397979.3	+	4	435	c.381C>G	c.(379-381)ggC>ggG	p.G127G	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Silent_p.G127G|MAP2K7_ENST00000397983.3_Silent_p.G143G|MAP2K7_ENST00000545011.1_Silent_p.G169G	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GCGAGATGGGCAGCGGCACCT	0.672																																																	0			19											33.0	39.0	37.0					19																	7975192		2040	4177	6217	7881192	SO:0001819	synonymous_variant	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.381C>G	19.37:g.7975192C>G			7881192	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	CCDS42491.1																																																																																				0.672	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		
CEACAM8	1088	hgsc.bcm.edu	37	19	43098027	43098027	+	Silent	SNP	C	C	T	rs369527473		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:43098027C>T	ENST00000244336.5	-	2	191	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	30					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CAGTGGTGGGCGGGTTCCAGA	0.512																																																	0			19						C		0,4406		0,0,2203	111.0	103.0	106.0		90	-3.3	0.0	19		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEACAM8	NM_001816.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		30/350	43098027	1,13005	2203	4300	6503	47789867	SO:0001819	synonymous_variant	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.90G>A	19.37:g.43098027C>T			47789867	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																				0.512	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
CCDC114	93233	hgsc.bcm.edu	37	19	48800266	48800266	+	Silent	SNP	C	C	T	rs572589870		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:48800266C>T	ENST00000315396.7	-	14	2662	c.1980G>A	c.(1978-1980)ccG>ccA	p.P660P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	660	Ser-rich.				outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGGAGGAGCCCGGGCCAGTGC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15065	0.0		0.0	False		,,,				2504	0.001																0			19											28.0	30.0	30.0					19																	48800266		2203	4299	6502	53492078	SO:0001819	synonymous_variant	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1980G>A	19.37:g.48800266C>T			53492078	Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																				0.657	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577	
CPT1C	126129	hgsc.bcm.edu	37	19	50208286	50208286	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:50208286C>T	ENST00000392518.4	+	9	1166	c.794C>T	c.(793-795)aCg>aTg	p.T265M	CPT1C_ENST00000405931.2_Intron|CPT1C_ENST00000598293.1_Missense_Mutation_p.T265M|CPT1C_ENST00000323446.5_Missense_Mutation_p.T265M|CPT1C_ENST00000354199.5_Missense_Mutation_p.T265M	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	265					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GTCACACCCACGCCTCTGCAG	0.642																																																	0			19											59.0	66.0	64.0					19																	50208286		2203	4300	6503	54900098	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.794C>T	19.37:g.50208286C>T	ENSP00000376303:p.Thr265Met		54900098	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636252	0.87760	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000323446;ENST00000295404	D;D;D	0.89810	-2.57;-2.57;-2.57	4.34	4.34	0.51931	.	0.000000	0.48767	D	0.000161	D	0.95079	0.8406	M	0.88979	2.995	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.99	D	0.96018	0.9007	10	0.87932	D	0	-16.6048	15.7686	0.78146	0.0:1.0:0.0:0.0	.	103;265;265	C9IY45;Q8TCG5-3;Q8TCG5	.;.;CPT1C_HUMAN	M	265;265;265;103	ENSP00000376303:T265M;ENSP00000346138:T265M;ENSP00000319343:T265M	ENSP00000295404:T103M	T	+	2	0	CPT1C	54900098	0.999000	0.42202	0.927000	0.36925	0.973000	0.67179	4.185000	0.58330	2.260000	0.74910	0.561000	0.74099	ACG		0.642	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
MYH14	79784	hgsc.bcm.edu	37	19	50775819	50775819	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:50775819C>T	ENST00000596571.1	+	24	3175	c.3175C>T	c.(3175-3177)Cgc>Tgc	p.R1059C	MYH14_ENST00000440075.2_Missense_Mutation_p.R1100C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1100C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1067C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1092C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1100C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1067C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1059					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1059C(1)|p.R1100C(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCTCCAGACCGCCTACGGAA	0.627																																																	2	Substitution - Missense(2)	large_intestine(2)	19											8.0	10.0	9.0					19																	50775819		2082	4203	6285	55467631	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3175C>T	19.37:g.50775819C>T	ENSP00000472819:p.Arg1059Cys		55467631	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999873	0.54147	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	3.06	3.06	0.35304	.	.	.	.	.	D	0.96420	0.8832	M	0.82517	2.595	0.58432	D	0.999999	D;P;D	0.89917	0.977;0.923;1.0	P;B;D	0.72075	0.514;0.198;0.976	D	0.95647	0.8703	9	0.66056	D	0.02	.	7.6324	0.28247	0.253:0.747:0.0:0.0	.	1100;1059;1067	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1059;1100;1092;1067;1059;1100	ENSP00000406273:R1100C;ENSP00000366169:R1092C;ENSP00000407879:R1067C;ENSP00000262269:R1100C	ENSP00000262269:R1100C	R	+	1	0	MYH14	55467631	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.445000	0.52921	2.040000	0.60383	0.491000	0.48974	CGC		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
VN1R4	317703	hgsc.bcm.edu	37	19	53770852	53770852	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:53770852A>G	ENST00000311170.4	-	1	120	c.67T>C	c.(67-69)Ttc>Ctc	p.F23L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	23					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGAACAGAGAAGCTCCCCAGG	0.483										HNSCC(26;0.072)																																							0			19											58.0	64.0	62.0					19																	53770852		2203	4300	6503	58462664	SO:0001583	missense	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.67T>C	19.37:g.53770852A>G	ENSP00000310856:p.Phe23Leu		58462664	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	8.026	0.760669	0.15914	.	.	ENSG00000228567	ENST00000311170	T	0.31510	1.49	2.28	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	1.476590	0.04844	N	0.440975	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.21151	0.033	T	0.24368	-1.0162	10	0.40728	T	0.16	.	3.1173	0.06379	0.5035:0.2515:0.0:0.245	.	23	Q7Z5H5	VN1R4_HUMAN	L	23	ENSP00000310856:F23L	ENSP00000310856:F23L	F	-	1	0	VN1R4	58462664	0.037000	0.19845	0.001000	0.08648	0.004000	0.04260	0.587000	0.23909	0.302000	0.22762	-0.510000	0.04470	TTC		0.483	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
KIR3DL1	3811	hgsc.bcm.edu	37	19	55329797	55329797	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr19:55329797C>A	ENST00000391728.4	+	3	131	c.98C>A	c.(97-99)gCc>gAc	p.A33D	KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A33D|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A33D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A33D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A33D	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	33					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTCCTGTCTGCCTGGCCCAGC	0.547																																																	0			19											55.0	75.0	68.0					19																	55329797		2170	4118	6288	60021609	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.98C>A	19.37:g.55329797C>A	ENSP00000375608:p.Ala33Asp		60021609	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816003	0.32145	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542	T;T;T;T;T	0.00922	5.54;5.54;5.54;5.54;5.54	1.41	0.314	0.15847	Immunoglobulin-like fold (1);	0.551703	0.13505	U	0.382927	T	0.06096	0.0158	H	0.94306	3.52	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.15896	-1.0421	10	0.72032	D	0.01	.	3.7747	0.08656	0.0:0.7471:0.0:0.2529	.	33;33	F6QF33;P43629	.;KI3L1_HUMAN	D	33;33;33;11;33;33	ENSP00000384528:A33D;ENSP00000443350:A33D;ENSP00000442355:A33D;ENSP00000375608:A33D;ENSP00000326868:A33D	ENSP00000326868:A33D	A	+	2	0	KIR3DL1	60021609	0.068000	0.21057	0.003000	0.11579	0.031000	0.12232	0.499000	0.22546	0.173000	0.19788	0.184000	0.17185	GCC		0.547	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
FBXO25	26260	hgsc.bcm.edu	37	8	401363	401363	+	Silent	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr8:401363T>C	ENST00000276326.5	+	7	689	c.570T>C	c.(568-570)tcT>tcC	p.S190S	FBXO25_ENST00000382824.1_Silent_p.S123S|FBXO25_ENST00000352684.2_Silent_p.S123S|RP11-91J19.3_ENST00000607549.1_RNA|FBXO25_ENST00000350302.3_Silent_p.S190S	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	190					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S190S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TAGGGAAGTCTGTATTAGTGG	0.403																																																	1	Substitution - coding silent(1)	lung(1)	8											122.0	119.0	120.0					8																	401363		2203	4300	6503	391363	SO:0001819	synonymous_variant	26260			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.570T>C	8.37:g.401363T>C			391363	Q6PJ83|Q7Z4V4|Q9UKB8	Silent	SNP	ENST00000276326.5	37	CCDS5953.1																																																																																				0.403	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173	
IMPAD1	54928	hgsc.bcm.edu	37	8	57878751	57878751	+	Splice_Site	SNP	A	A	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr8:57878751A>T	ENST00000262644.4	-	4	1065	c.807T>A	c.(805-807)gcT>gcA	p.A269A		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	269					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GGAACATACCAGCACCACCAG	0.498																																																	0			8											132.0	108.0	116.0					8																	57878751		2203	4300	6503	58041305	SO:0001630	splice_region_variant	54928				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.808+1T>A	8.37:g.57878751A>T			58041305	Q6NVY7	Silent	SNP	ENST00000262644.4	37	CCDS6169.1																																																																																				0.498	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813	Silent
CSPP1	79848	hgsc.bcm.edu	37	8	68087633	68087633	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr8:68087633A>G	ENST00000262210.5	+	24	3087	c.3056A>G	c.(3055-3057)aAg>aGg	p.K1019R	CSPP1_ENST00000412460.1_Missense_Mutation_p.K674R|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1054					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAGCAGCAGAAGAGGCTGAAC	0.428																																																	0			8											56.0	55.0	55.0					8																	68087633		1907	4120	6027	68250187	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3056A>G	8.37:g.68087633A>G	ENSP00000262210:p.Lys1019Arg		68250187	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060839	0.36373	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.33438	1.41;1.44;1.44	4.8	2.1	0.27182	.	0.232657	0.35291	N	0.003310	T	0.17959	0.0431	N	0.25380	0.74	0.80722	D	1	B;B;B;B	0.14805	0.011;0.008;0.011;0.004	B;B;B;B	0.16722	0.016;0.009;0.016;0.011	T	0.08513	-1.0718	10	0.20046	T	0.44	-13.3239	7.5124	0.27581	0.7184:0.0:0.2816:0.0	.	177;674;1019;1054	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	R	1019;1054;674;674	ENSP00000262210:K1019R;ENSP00000415782:K674R;ENSP00000430092:K674R	ENSP00000262210:K1019R	K	+	2	0	CSPP1	68250187	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	1.380000	0.34351	0.203000	0.20529	0.482000	0.46254	AAG		0.428	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
FZD6	8323	hgsc.bcm.edu	37	8	104340565	104340565	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr8:104340565A>G	ENST00000358755.4	+	5	1779	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	FZD6_ENST00000522566.1_Missense_Mutation_p.I488V|FZD6_ENST00000523739.1_Missense_Mutation_p.I456V|FZD6_ENST00000540287.1_Missense_Mutation_p.I183V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	488					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AATTGTTGGCATCTCTGCTGT	0.348																																																	0			8											107.0	112.0	110.0					8																	104340565		2203	4300	6503	104409741	SO:0001583	missense	8323			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1462A>G	8.37:g.104340565A>G	ENSP00000351605:p.Ile488Val		104409741	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658957	0.88154	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.169147	0.53938	D	0.000046	D	0.91768	0.7396	M	0.76328	2.33	0.50171	D	0.99985	P;D;D;P	0.69078	0.891;0.996;0.997;0.938	P;D;D;P	0.80764	0.773;0.99;0.994;0.773	D	0.92209	0.5774	10	0.54805	T	0.06	.	15.8118	0.78571	1.0:0.0:0.0:0.0	.	433;183;488;488	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	V	488;488;456;183;433	ENSP00000429055:I488V;ENSP00000351605:I488V;ENSP00000429528:I456V;ENSP00000443757:I183V	ENSP00000351605:I488V	I	+	1	0	FZD6	104409741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.056000	0.93881	2.194000	0.70268	0.383000	0.25322	ATC		0.348	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
PRKCZ	5590	hgsc.bcm.edu	37	1	2077532	2077532	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:2077532G>A	ENST00000400921.2	+	4	753	c.70G>A	c.(70-72)Gag>Aag	p.E24K	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E24K|RP5-892K4.1_ENST00000606533.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	207	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CCTTCCTTCCGAGGAGACAGA	0.582																																																	0			1											94.0	71.0	79.0					1																	2077532		2203	4300	6503	2067392	SO:0001583	missense	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.70G>A	1.37:g.2077532G>A	ENSP00000383712:p.Glu24Lys		2067392	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706115	0.48412	.	.	ENSG00000067606	ENST00000378567;ENST00000468310;ENST00000400921;ENST00000461106;ENST00000470596;ENST00000496325;ENST00000482686;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000470511;ENST00000471018;ENST00000466352;ENST00000497183	T;D;T;T;T;T;T;T;T	0.88664	-0.3;-2.41;-0.2;-0.32;1.42;-0.2;0.26;0.85;0.86	5.04	5.04	0.67666	.	0.056301	0.64402	D	0.000002	T	0.73249	0.3563	N	0.08118	0	0.80722	D	1	P;P;P	0.46578	0.88;0.856;0.851	B;B;B	0.31869	0.114;0.06;0.137	T	0.76572	-0.2910	10	0.09843	T	0.71	.	17.3593	0.87345	0.0:0.0:1.0:0.0	.	103;31;207	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	K	207;177;24;103;24;24;24;24;20;24;24;24;24;20	ENSP00000367830:E207K;ENSP00000424945:E177K;ENSP00000383712:E24K;ENSP00000426412:E103K;ENSP00000424228:E24K;ENSP00000383711:E24K;ENSP00000424763:E20K;ENSP00000421219:E24K;ENSP00000422764:E20K	ENSP00000367830:E207K	E	+	1	0	PRKCZ	2067392	1.000000	0.71417	0.871000	0.34182	0.884000	0.51177	8.484000	0.90445	2.348000	0.79779	0.462000	0.41574	GAG		0.582	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744	
UBR4	23352	hgsc.bcm.edu	37	1	19480385	19480385	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:19480385C>A	ENST00000375254.3	-	45	6534	c.6507G>T	c.(6505-6507)gaG>gaT	p.E2169D	UBR4_ENST00000375267.2_Missense_Mutation_p.E2169D|UBR4_ENST00000375217.2_Missense_Mutation_p.E2169D|UBR4_ENST00000375226.2_Missense_Mutation_p.E2169D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2169					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTCATCACCTCAGACCACT	0.483																																																	0			1											101.0	94.0	96.0					1																	19480385		2203	4300	6503	19352972	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6507G>T	1.37:g.19480385C>A	ENSP00000364403:p.Glu2169Asp		19352972	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972364	0.74246	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.35048	1.36;1.36;1.36;1.33	5.31	2.4	0.29515	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	M	0.65975	2.015	0.51767	D	0.99993	D;P	0.89917	1.0;0.956	D;D	0.83275	0.996;0.931	T	0.51387	-0.8712	10	0.54805	T	0.06	.	8.7709	0.34731	0.0:0.6294:0.0:0.3706	.	2170;2169	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	D	2169;2169;2169;2169;879;1386	ENSP00000364403:E2169D;ENSP00000364416:E2169D;ENSP00000364365:E2169D;ENSP00000364374:E2169D	ENSP00000364365:E2169D	E	-	3	2	UBR4	19352972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.975000	0.29449	0.827000	0.34685	-0.229000	0.12294	GAG		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
PPCS	79717	hgsc.bcm.edu	37	1	42922602	42922602	+	Silent	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:42922602G>A	ENST00000372561.3	+	1	373	c.366G>A	c.(364-366)gaG>gaA	p.E122E	ZMYND12_ENST00000372565.3_5'Flank|PPCS_ENST00000372560.3_Silent_p.E122E|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Intron|ZMYND12_ENST00000433602.2_5'Flank|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	122					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCCGAGGAGAATGCACTTC	0.632																																																	0			1											52.0	57.0	55.0					1																	42922602		1942	4118	6060	42695189	SO:0001819	synonymous_variant	79717			AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.366G>A	1.37:g.42922602G>A			42695189	Q3KQT2|Q5VVM0	Silent	SNP	ENST00000372561.3	37	CCDS41311.1																																																																																				0.632	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664	
TTLL7	79739	hgsc.bcm.edu	37	1	84417546	84417546	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:84417546C>T	ENST00000260505.8	-	3	516	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	47	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AACTTTGTCCCGGCAACATTT	0.363																																																	0			1											80.0	83.0	82.0					1																	84417546		2203	4300	6503	84190134	SO:0001583	missense	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.139G>A	1.37:g.84417546C>T	ENSP00000260505:p.Gly47Arg		84190134	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682395	0.88542	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.03745	3.82	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	L	0.33710	1.025	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.56798	-0.7919	10	0.25106	T	0.35	.	19.0987	0.93265	0.0:1.0:0.0:0.0	.	47	Q6ZT98	TTLL7_HUMAN	R	47	ENSP00000260505:G47R	ENSP00000260505:G47R	G	-	1	0	TTLL7	84190134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.473000	0.73572	2.595000	0.87683	0.650000	0.86243	GGG		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686	
SARS	6301	hgsc.bcm.edu	37	1	109780387	109780387	+	Silent	SNP	G	G	A	rs374920184		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:109780387G>A	ENST00000234677.2	+	11	1497	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Silent_p.A496A	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	474					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGAAGCCTGCGCCCATTGAGC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19662	0.0		0.0	False		,,,				2504	0.001																0			1						G		0,4406		0,0,2203	132.0	119.0	123.0		1422	-12.1	0.1	1		123	1,8599		0,1,4299	no	coding-synonymous	SARS	NM_006513.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		474/515	109780387	1,13005	2203	4300	6503	109581910	SO:0001819	synonymous_variant	54938			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1422G>A	1.37:g.109780387G>A			109581910	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	ENST00000234677.2	37	CCDS795.1																																																																																				0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513	
POGZ	23126	hgsc.bcm.edu	37	1	151400754	151400754	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:151400754A>G	ENST00000271715.2	-	6	1018	c.704T>C	c.(703-705)cTt>cCt	p.L235P	POGZ_ENST00000361398.3_Missense_Mutation_p.L182P|POGZ_ENST00000531094.1_Missense_Mutation_p.L182P|POGZ_ENST00000368863.2_Missense_Mutation_p.L140P|POGZ_ENST00000392723.1_Missense_Mutation_p.L182P|POGZ_ENST00000409503.1_Missense_Mutation_p.L235P|POGZ_ENST00000491586.1_Missense_Mutation_p.L182P|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	235					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGAATGGTAAGAGTGGCCGG	0.602																																																	0			1											293.0	280.0	284.0					1																	151400754		2203	4300	6503	149667378	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.704T>C	1.37:g.151400754A>G	ENSP00000271715:p.Leu235Pro		149667378	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810187	0.70797	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000011	T	0.80899	0.4712	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.995;1.0;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D	0.91635	0.997;0.986;0.999;0.997;0.996;0.994;0.997	D	0.84970	0.0882	10	0.62326	D	0.03	-15.8125	13.97	0.64233	1.0:0.0:0.0:0.0	.	182;235;140;235;182;182;235	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	P	182;235;182;140;235;182;182;235	ENSP00000376484:L182P;ENSP00000271715:L235P;ENSP00000354467:L182P;ENSP00000357856:L140P;ENSP00000386836:L235P;ENSP00000431259:L182P;ENSP00000418408:L182P	ENSP00000271715:L235P	L	-	2	0	POGZ	149667378	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.516000	0.73755	2.164000	0.68074	0.460000	0.39030	CTT		0.602	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
MNDA	4332	hgsc.bcm.edu	37	1	158815633	158815633	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:158815633G>A	ENST00000368141.4	+	5	1088	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	276	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAATGTAAAGGAGTAATGGAA	0.333																																																	0			1											75.0	77.0	77.0					1																	158815633		2203	4300	6503	157082257	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.827G>A	1.37:g.158815633G>A	ENSP00000357123:p.Gly276Glu		157082257		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215950	0.39201	.	.	ENSG00000163563	ENST00000368141	T	0.17213	2.29	4.28	1.25	0.21368	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.203127	0.24557	N	0.037511	T	0.15089	0.0364	M	0.80183	2.485	0.09310	N	1	P	0.51537	0.946	P	0.51945	0.685	T	0.04537	-1.0944	10	0.56958	D	0.05	-14.5925	7.0429	0.25031	0.3013:0.0:0.6987:0.0	.	276	P41218	MNDA_HUMAN	E	276	ENSP00000357123:G276E	ENSP00000357123:G276E	G	+	2	0	MNDA	157082257	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	0.258000	0.18387	0.150000	0.19136	0.655000	0.94253	GGA		0.333	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
TNN	63923	hgsc.bcm.edu	37	1	175066670	175066670	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:175066670A>G	ENST00000239462.4	+	8	1819	c.1706A>G	c.(1705-1707)gAc>gGc	p.D569G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	569	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTCTGCTGACGACCAAGAG	0.597																																																	0			1											84.0	71.0	76.0					1																	175066670		2203	4300	6503	173333293	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1706A>G	1.37:g.175066670A>G	ENSP00000239462:p.Asp569Gly		173333293	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990309	0.35131	.	.	ENSG00000120332	ENST00000239462	T	0.55930	0.49	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.234670	0.37530	N	0.002046	T	0.63414	0.2509	M	0.74881	2.28	0.40726	D	0.982708	P	0.52692	0.955	P	0.54100	0.742	T	0.62709	-0.6797	10	0.11794	T	0.64	.	15.5013	0.75700	1.0:0.0:0.0:0.0	.	569	Q9UQP3	TENN_HUMAN	G	569	ENSP00000239462:D569G	ENSP00000239462:D569G	D	+	2	0	TNN	173333293	.	.	0.012000	0.15200	0.004000	0.04260	.	.	2.126000	0.65437	0.533000	0.62120	GAC		0.597	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
PAPPA2	60676	hgsc.bcm.edu	37	1	176564627	176564627	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:176564627C>T	ENST00000367662.3	+	3	3051	c.1887C>T	c.(1885-1887)caC>caT	p.H629H	PAPPA2_ENST00000367661.3_Silent_p.H629H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	629	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCTCTGTCACGTGGAGTGTA	0.612																																																	0			1											75.0	79.0	78.0					1																	176564627		2149	4257	6406	174831250	SO:0001819	synonymous_variant	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1887C>T	1.37:g.176564627C>T			174831250	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	CCDS41438.1																																																																																				0.612	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
IPO9	55705	hgsc.bcm.edu	37	1	201821292	201821292	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:201821292A>G	ENST00000361565.4	+	5	644	c.575A>G	c.(574-576)gAg>gGg	p.E192G	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	192					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTCTCCCAGAGATGTATAAG	0.418																																																	0			1											97.0	95.0	96.0					1																	201821292		2203	4300	6503	200087915	SO:0001583	missense	55705			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.575A>G	1.37:g.201821292A>G	ENSP00000354742:p.Glu192Gly		200087915	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	32	5.178500	0.94846	.	.	ENSG00000198700	ENST00000361565	T	0.66460	-0.21	5.93	5.93	0.95920	Armadillo-like helical (1);Armadillo-type fold (1);	0.044602	0.85682	D	0.000000	T	0.76983	0.4064	M	0.72353	2.195	0.80722	D	1	D	0.63046	0.992	P	0.60415	0.874	T	0.74509	-0.3642	10	0.23891	T	0.37	-5.0673	14.331	0.66556	1.0:0.0:0.0:0.0	.	192	Q96P70	IPO9_HUMAN	G	192	ENSP00000354742:E192G	ENSP00000354742:E192G	E	+	2	0	IPO9	200087915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.192000	0.94947	2.268000	0.75426	0.455000	0.32223	GAG		0.418	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	
TMCC2	9911	hgsc.bcm.edu	37	1	205238518	205238518	+	Silent	SNP	C	C	T	rs558212864		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:205238518C>T	ENST00000358024.3	+	3	1577	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	TMCC2_ENST00000330675.7_Silent_p.S171S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Silent_p.S156S|TMCC2_ENST00000545499.1_Silent_p.S318S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	396						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGGCATCAGCGGCTTTGGGG	0.692																																																	0			1											27.0	29.0	28.0					1																	205238518		2199	4297	6496	203505141	SO:0001819	synonymous_variant	9911			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1188C>T	1.37:g.205238518C>T			203505141	A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	CCDS30984.1																																																																																				0.692	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858	
C4BPA	722	hgsc.bcm.edu	37	1	207314546	207314546	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:207314546G>A	ENST00000367070.3	+	10	1563	c.1369G>A	c.(1369-1371)Ggc>Agc	p.G457S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	457	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ATGTGATAAAGGCTACATTCT	0.408																																																	0			1											93.0	95.0	94.0					1																	207314546		2203	4300	6503	205381169	SO:0001583	missense	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1369G>A	1.37:g.207314546G>A	ENSP00000356037:p.Gly457Ser		205381169	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286835	0.80803	.	.	ENSG00000123838	ENST00000367070	T	0.76448	-1.02	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.51477	D	0.000096	D	0.88119	0.6351	M	0.82716	2.605	0.36133	D	0.846256	D	0.76494	0.999	D	0.70016	0.967	D	0.91505	0.5222	10	0.62326	D	0.03	.	14.9497	0.71064	0.0:0.0:1.0:0.0	.	457	P04003	C4BPA_HUMAN	S	457	ENSP00000356037:G457S	ENSP00000356037:G457S	G	+	1	0	C4BPA	205381169	0.997000	0.39634	0.621000	0.29145	0.169000	0.22640	4.010000	0.57117	2.665000	0.90641	0.655000	0.94253	GGC		0.408	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
LPGAT1	9926	hgsc.bcm.edu	37	1	211956633	211956633	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:211956633A>T	ENST00000366997.4	-	5	891	c.665T>A	c.(664-666)tTg>tAg	p.L222*	LPGAT1_ENST00000366996.1_Nonsense_Mutation_p.L222*	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	222					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		AAGTGCATTCAAAATAATTTT	0.383																																																	0			1											70.0	70.0	70.0					1																	211956633		2203	4300	6503	210023256	SO:0001587	stop_gained	9926			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.665T>A	1.37:g.211956633A>T	ENSP00000355964:p.Leu222*		210023256	Q53YL2	Nonsense_Mutation	SNP	ENST00000366997.4	37	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	A	44	11.268734	0.99539	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.068	16.3766	0.83401	1.0:0.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000355963:L222X	L	-	2	0	LPGAT1	210023256	1.000000	0.71417	0.594000	0.28785	0.901000	0.52897	8.369000	0.90118	2.263000	0.75096	0.533000	0.62120	TTG		0.383	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873	
TGFB2	7042	hgsc.bcm.edu	37	1	218607468	218607468	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:218607468C>T	ENST00000366930.4	+	3	1022	c.555C>T	c.(553-555)atC>atT	p.I185I	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.I213I	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	185					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGCGCTACATCGACAGCAAAG	0.453																																																	0			1											195.0	190.0	191.0					1																	218607468		2203	4300	6503	216674091	SO:0001819	synonymous_variant	7042			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.555C>T	1.37:g.218607468C>T			216674091	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																				0.453	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
TLR5	7100	hgsc.bcm.edu	37	1	223285573	223285573	+	Silent	SNP	G	G	A	rs200513847		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:223285573G>A	ENST00000540964.1	-	4	1262	c.801C>T	c.(799-801)gcC>gcT	p.A267A	TLR5_ENST00000342210.6_Silent_p.A267A			O60602	TLR5_HUMAN	toll-like receptor 5	267					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCCAAACCCGGCACCCATGA	0.493																																																	0			1											96.0	86.0	90.0					1																	223285573		2203	4300	6503	221352196	SO:0001819	synonymous_variant	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.801C>T	1.37:g.223285573G>A			221352196	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	CCDS31033.1																																																																																				0.493	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
TP53BP2	7159	hgsc.bcm.edu	37	1	223986087	223986087	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:223986087G>A	ENST00000343537.7	-	12	2069	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.P464L|TP53BP2_ENST00000391879.2_Intron	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	587					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GGAAGGCTGGGGAGTAAAGGG	0.537																																																	0			1											128.0	138.0	135.0					1																	223986087		2203	4300	6503	222052710	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1778C>T	1.37:g.223986087G>A	ENSP00000341957:p.Pro593Leu		222052710	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142793	0.94560	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.53423	0.62;0.8	5.88	5.88	0.94601	.	0.048575	0.85682	D	0.000000	T	0.70684	0.3252	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.971	T	0.67496	-0.5656	10	0.40728	T	0.16	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	593;587	B4DG66;Q13625	.;ASPP2_HUMAN	L	464;593	ENSP00000375750:P464L;ENSP00000341957:P593L	ENSP00000341957:P593L	P	-	2	0	TP53BP2	222052710	1.000000	0.71417	0.230000	0.23976	0.992000	0.81027	9.461000	0.97646	2.782000	0.95742	0.655000	0.94253	CCC		0.537	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
OR2L13	284521	hgsc.bcm.edu	37	1	248263455	248263455	+	Missense_Mutation	SNP	C	C	T	rs202188433		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:248263455C>T	ENST00000358120.2	+	2	923	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	OR2L13_ENST00000366478.2_Missense_Mutation_p.R260W			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CACCTATCTTCGGCCCAGGAA	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16895	0.0		0.0	False		,,,				2504	0.0																0			1											123.0	121.0	122.0					1																	248263455		2203	4300	6503	246330078	SO:0001583	missense	284521			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.778C>T	1.37:g.248263455C>T	ENSP00000350836:p.Arg260Trp		246330078	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.12	1.264307	0.23136	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.37915	1.17;1.17	4.08	-0.65	0.11457	GPCR, rhodopsin-like superfamily (1);	0.177126	0.26058	N	0.026584	T	0.31040	0.0784	M	0.70903	2.155	0.09310	N	1	B	0.27932	0.194	B	0.24541	0.054	T	0.21280	-1.0250	10	0.45353	T	0.12	.	7.4108	0.27016	0.5178:0.3969:0.0:0.0854	.	260	Q8N349	OR2LD_HUMAN	W	260	ENSP00000355434:R260W;ENSP00000350836:R260W	ENSP00000350836:R260W	R	+	1	2	OR2L13	246330078	0.000000	0.05858	0.012000	0.15200	0.509000	0.34042	-1.495000	0.02294	0.001000	0.14605	0.555000	0.69702	CGG		0.463	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2T33	391195	hgsc.bcm.edu	37	1	248436585	248436585	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:248436585C>T	ENST00000318021.2	-	1	553	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E178K(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACGGGGGTCTCGCAGAAGAAG	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)	1											37.0	41.0	40.0					1																	248436585		2200	4289	6489	246503208	SO:0001583	missense	391195				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.532G>A	1.37:g.248436585C>T	ENSP00000324687:p.Glu178Lys		246503208	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	14.51	2.556107	0.45487	.	.	ENSG00000177212	ENST00000318021	T	0.00202	8.56	1.86	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35495	U	0.003180	T	0.00695	0.0023	H	0.94925	3.6	0.39781	D	0.972299	D	0.89917	1.0	D	0.65874	0.939	T	0.61312	-0.7088	10	0.87932	D	0	.	12.3733	0.55265	0.0:1.0:0.0:0.0	.	178	Q8NG76	O2T33_HUMAN	K	178	ENSP00000324687:E178K	ENSP00000324687:E178K	E	-	1	0	OR2T33	246503208	1.000000	0.71417	0.961000	0.40146	0.163000	0.22366	2.197000	0.42696	1.338000	0.45544	0.494000	0.49563	GAG		0.552	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR56A1	120796	hgsc.bcm.edu	37	11	6048216	6048216	+	Missense_Mutation	SNP	G	G	A	rs139301829		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:6048216G>A	ENST00000316650.5	-	1	755	c.719C>T	c.(718-720)gCg>gTg	p.A240V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCACTGCCGCCCCCTCTGC	0.498													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21498	0.0		0.0	False		,,,				2504	0.0																0			11						G	VAL/ALA	1,4401	2.1+/-5.4	0,1,2200	49.0	48.0	48.0		719	3.3	0.6	11	dbSNP_134	48	0,8592		0,0,4296	yes	missense	OR56A1	NM_001001917.2	64	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	240/319	6048216	1,12993	2201	4296	6497	6004792	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.719C>T	11.37:g.6048216G>A	ENSP00000321246:p.Ala240Val		6004792	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424014	0.25639	2.27E-4	0.0	ENSG00000180934	ENST00000316650	T	0.00145	8.67	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	D	0.000729	T	0.00552	0.0018	M	0.92317	3.295	0.20196	N	0.999923	D	0.69078	0.997	D	0.68353	0.957	T	0.15636	-1.0430	10	0.72032	D	0.01	.	11.1515	0.48462	0.0917:0.0:0.9083:0.0	.	240	Q8NGH5	O56A1_HUMAN	V	240	ENSP00000321246:A240V	ENSP00000321246:A240V	A	-	2	0	OR56A1	6004792	0.074000	0.21230	0.623000	0.29173	0.003000	0.03518	2.503000	0.45407	1.145000	0.42336	-0.136000	0.14681	GCG		0.498	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
OR5B21	219968	hgsc.bcm.edu	37	11	58275031	58275031	+	Missense_Mutation	SNP	A	A	G	rs531148002		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:58275031A>G	ENST00000360374.2	-	1	547	c.548T>C	c.(547-549)cTg>cCg	p.L183P		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGAGAGCCAGGAGTGGGGG	0.483																																																	0			11											53.0	50.0	51.0					11																	58275031		2201	4295	6496	58031607	SO:0001583	missense	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.548T>C	11.37:g.58275031A>G	ENSP00000353537:p.Leu183Pro		58031607		Missense_Mutation	SNP	ENST00000360374.2	37	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213543	0.39102	.	.	ENSG00000198283	ENST00000360374	T	0.00340	8.04	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29335	U	0.012450	T	0.00967	0.0032	M	0.89715	3.055	0.36201	D	0.850714	D	0.56968	0.978	P	0.62649	0.905	T	0.56517	-0.7966	10	0.87932	D	0	-4.8057	14.0674	0.64839	1.0:0.0:0.0:0.0	.	183	A6NL26	OR5BL_HUMAN	P	183	ENSP00000353537:L183P	ENSP00000353537:L183P	L	-	2	0	OR5B21	58031607	0.002000	0.14202	0.162000	0.22713	0.532000	0.34746	1.927000	0.40094	2.194000	0.70268	0.460000	0.39030	CTG		0.483	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218	
OR5A1	219982	hgsc.bcm.edu	37	11	59211350	59211350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:59211350C>T	ENST00000302030.2	+	1	734	c.709C>T	c.(709-711)Cga>Tga	p.R237*		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R237*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCAGAGGGCCGATGGAAAGC	0.547																																																	1	Substitution - Nonsense(1)	ovary(1)	11											257.0	215.0	229.0					11																	59211350		2201	4295	6496	58967926	SO:0001587	stop_gained	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.709C>T	11.37:g.59211350C>T	ENSP00000303096:p.Arg237*		58967926	B9EH58|Q6IFF2|Q96RB1	Nonsense_Mutation	SNP	ENST00000302030.2	37	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278495	0.23307	.	.	ENSG00000172320	ENST00000302030	.	.	.	5.98	0.101	0.14517	.	0.291504	0.23922	N	0.043237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7219	10.2104	0.43136	0.5557:0.3744:0.0:0.0699	.	.	.	.	X	237	.	ENSP00000303096:R237X	R	+	1	2	OR5A1	58967926	0.000000	0.05858	0.018000	0.16275	0.011000	0.07611	-0.261000	0.08694	0.113000	0.18004	-0.912000	0.02778	CGA		0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
MTL5	9633	hgsc.bcm.edu	37	11	68512558	68512558	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:68512558C>T	ENST00000255087.5	-	4	835	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	MTL5_ENST00000540869.1_Intron|MTL5_ENST00000443940.2_Missense_Mutation_p.G218S|MTL5_ENST00000544963.1_Missense_Mutation_p.G218S	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	218					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTGTGTGCCCCCTTTCAAT	0.318																																																	0			11											135.0	130.0	132.0					11																	68512558		2200	4293	6493	68269134	SO:0001583	missense	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.652G>A	11.37:g.68512558C>T	ENSP00000255087:p.Gly218Ser		68269134	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827114	0.90955	.	.	ENSG00000132749	ENST00000255087;ENST00000443940;ENST00000544963	T;T;T	0.70869	0.54;-0.52;0.07	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000063	T	0.77805	0.4185	L	0.34521	1.04	0.38848	D	0.956212	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80211	-0.1476	10	0.54805	T	0.06	-16.753	16.8394	0.85964	0.0:1.0:0.0:0.0	.	218;218	Q9Y4I5-3;Q9Y4I5	.;MTL5_HUMAN	S	218	ENSP00000255087:G218S;ENSP00000403086:G218S;ENSP00000440968:G218S	ENSP00000255087:G218S	G	-	1	0	MTL5	68269134	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	2.793000	0.47845	2.479000	0.83701	0.655000	0.94253	GGC		0.318	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923	
TRIM77	390231	hgsc.bcm.edu	37	11	89443493	89443493	+	Silent	SNP	T	T	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:89443493T>A	ENST00000398290.3	+	1	27	c.27T>A	c.(25-27)tcT>tcA	p.S9S		NM_001146162.1	NP_001139634.1	I1YAP6	TRI77_HUMAN	tripartite motif containing 77	9						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CGCAGTGTTCTACCAGTGAGC	0.443																																																	0			11											106.0	83.0	90.0					11																	89443493		692	1591	2283	89083141	SO:0001819	synonymous_variant	390231				CCDS60929.1	11q14.3	2014-02-17	2013-01-14	2013-01-14	ENSG00000214414	ENSG00000214414		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	34228	protein-coding gene	gene with protein product			"""tripartite motif-containing 77"", ""tripartite motif containing 77, pseudogene"""	TRIM77P			Standard	NM_001146162		Approved		uc010rtw.2	I1YAP6	OTTHUMG00000167624	ENST00000398290.3:c.27T>A	11.37:g.89443493T>A			89083141		Silent	SNP	ENST00000398290.3	37																																																																																					0.443	TRIM77-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001146162	
FAT3	120114	hgsc.bcm.edu	37	11	92532069	92532069	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:92532069A>G	ENST00000298047.6	+	9	5907	c.5890A>G	c.(5890-5892)Agt>Ggt	p.S1964G	FAT3_ENST00000409404.2_Missense_Mutation_p.S1964G|FAT3_ENST00000525166.1_Missense_Mutation_p.S1814G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1964	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGTTCTACAGTACCTCCAT	0.413										TCGA Ovarian(4;0.039)																																							0			11											125.0	121.0	122.0					11																	92532069		1930	4130	6060	92171717	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5890A>G	11.37:g.92532069A>G	ENSP00000298047:p.Ser1964Gly		92171717	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	6.772	0.511369	0.12944	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01804	4.63;4.63;4.63	6.02	4.71	0.59529	.	.	.	.	.	T	0.02494	0.0076	L	0.46157	1.445	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.52403	-0.8580	9	0.36615	T	0.2	.	12.7228	0.57152	0.9266:0.0:0.0734:0.0	.	1964	Q8TDW7-3	.	G	1964;1964;1814	ENSP00000298047:S1964G;ENSP00000387040:S1964G;ENSP00000432586:S1814G	ENSP00000298047:S1964G	S	+	1	0	FAT3	92171717	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	6.229000	0.72294	2.311000	0.77944	0.533000	0.62120	AGT		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MTNR1B	4544	hgsc.bcm.edu	37	11	92703048	92703048	+	Missense_Mutation	SNP	G	G	A	rs541167036		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:92703048G>A	ENST00000257068.2	+	1	163	c.157G>A	c.(157-159)Gtg>Atg	p.V53M		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	53					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CACCACCGCCGTGGACGTCGT	0.697																																																	0			11											34.0	27.0	30.0					11																	92703048		2199	4291	6490	92342696	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.157G>A	11.37:g.92703048G>A	ENSP00000257068:p.Val53Met		92342696		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	6.680	0.494052	0.12702	.	.	ENSG00000134640	ENST00000257068	T	0.44083	0.93	4.72	0.645	0.17782	.	0.089710	0.44285	D	0.000469	T	0.30070	0.0753	L	0.52905	1.665	0.32383	N	0.554341	P	0.46621	0.881	B	0.38616	0.277	T	0.38415	-0.9662	10	0.51188	T	0.08	-0.8729	4.6583	0.12630	0.165:0.0:0.5302:0.3048	.	53	P49286	MTR1B_HUMAN	M	53	ENSP00000257068:V53M	ENSP00000257068:V53M	V	+	1	0	MTNR1B	92342696	1.000000	0.71417	0.039000	0.18376	0.006000	0.05464	4.598000	0.61069	0.078000	0.16900	-0.840000	0.03056	GTG		0.697	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
CCDC82	79780	hgsc.bcm.edu	37	11	96117863	96117863	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr11:96117863C>T	ENST00000278520.5	-	3	477	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.V17M|CCDC82_ENST00000542662.1_Missense_Mutation_p.V17M			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	17								p.V17M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGCTCAGGCACGTGACTCTTA	0.338																																																	1	Substitution - Missense(1)	ovary(1)	11											74.0	71.0	72.0					11																	96117863		2200	4296	6496	95757511	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.49G>A	11.37:g.96117863C>T	ENSP00000278520:p.Val17Met		95757511	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874879	0.33069	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.32515	1.83;1.83;1.83;1.45	5.77	1.77	0.24775	.	0.983418	0.08295	N	0.967843	T	0.20170	0.0485	L	0.36672	1.1	0.09310	N	0.999995	P;B	0.42757	0.789;0.226	B;B	0.27500	0.08;0.025	T	0.10847	-1.0612	10	0.52906	T	0.07	1.4465	9.947	0.41616	0.0:0.728:0.0:0.272	.	17;17	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	M	17	ENSP00000278520:V17M;ENSP00000444010:V17M;ENSP00000397156:V17M;ENSP00000442723:V17M	ENSP00000278520:V17M	V	-	1	0	CCDC82	95757511	0.000000	0.05858	0.612000	0.29024	0.957000	0.61999	-0.767000	0.04720	0.141000	0.18875	0.655000	0.94253	GTG		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
DUSP22	56940	hgsc.bcm.edu	37	6	348819	348819	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:348819A>G	ENST00000344450.5	+	7	929	c.486A>G	c.(484-486)gcA>gcG	p.A162A	DUSP22_ENST00000419235.2_Silent_p.A162A|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Silent_p.A59A|DUSP22_ENST00000603453.1_Silent_p.A59A|DUSP22_ENST00000604971.1_Silent_p.A59A	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	162					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGCAGGATGCAGAAGAAGCCA	0.557																																																	0			6											131.0	119.0	123.0					6																	348819		2203	4300	6503	293819	SO:0001819	synonymous_variant	56940			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.486A>G	6.37:g.348819A>G			293819	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767114	0.31320	.	.	ENSG00000112679	ENST00000419235	.	.	.	4.8	-5.38	0.02673	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40887	-0.9539	4	.	.	.	.	0.3071	0.00282	0.3623:0.219:0.2058:0.2129	.	.	.	.	G	100	.	.	R	+	1	2	DUSP22	293819	0.033000	0.19621	0.935000	0.37517	0.981000	0.71138	-0.791000	0.04599	-1.177000	0.02744	0.533000	0.62120	AGA		0.557	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185	
TRIM31	11074	hgsc.bcm.edu	37	6	30078241	30078241	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:30078241G>A	ENST00000376734.3	-	4	853	c.728C>T	c.(727-729)cCc>cTc	p.P243L	TRIM31_ENST00000540829.1_Missense_Mutation_p.P243L|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	243					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CAGCTGCCTGGGTGGCATGTT	0.557																																																	0			6											147.0	134.0	139.0					6																	30078241		2203	4300	6503	30186220	SO:0001583	missense	11074			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.728C>T	6.37:g.30078241G>A	ENSP00000365924:p.Pro243Leu		30186220	A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088606	0.55968	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.65732	-0.17;-0.17	3.49	3.49	0.39957	.	.	.	.	.	T	0.29716	0.0742	N	0.24115	0.695	0.09310	N	1	B	0.30439	0.279	B	0.30943	0.122	T	0.15009	-1.0452	9	0.41790	T	0.15	.	10.6926	0.45879	0.0:0.0:1.0:0.0	.	243	Q9BZY9	TRI31_HUMAN	L	243	ENSP00000365924:P243L;ENSP00000444311:P243L	ENSP00000365918:P243L	P	-	2	0	TRIM31	30186220	0.039000	0.19947	0.006000	0.13384	0.348000	0.29142	2.515000	0.45512	1.940000	0.56252	0.453000	0.30009	CCC		0.557	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2		
PKHD1	5314	hgsc.bcm.edu	37	6	51524434	51524434	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:51524434G>T	ENST00000371117.3	-	61	10765	c.10490C>A	c.(10489-10491)gCt>gAt	p.A3497D		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3497					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTAGAATACAGCCAAGAGAAG	0.453																																																	0			6											64.0	65.0	65.0					6																	51524434		2203	4300	6503	51632393	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10490C>A	6.37:g.51524434G>T	ENSP00000360158:p.Ala3497Asp		51632393	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257965	0.80246	.	.	ENSG00000170927	ENST00000371117	D	0.86562	-2.14	5.72	5.72	0.89469	.	0.158779	0.42821	D	0.000641	D	0.88070	0.6338	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.64144	0.922	D	0.88654	0.3184	10	0.56958	D	0.05	.	18.8671	0.92296	0.0:0.0:1.0:0.0	.	3497	P08F94	PKHD1_HUMAN	D	3497	ENSP00000360158:A3497D	ENSP00000360158:A3497D	A	-	2	0	PKHD1	51632393	0.901000	0.30685	0.966000	0.40874	0.945000	0.59286	3.822000	0.55708	2.695000	0.91970	0.655000	0.94253	GCT		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
DST	667	hgsc.bcm.edu	37	6	56505333	56505333	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:56505333T>C	ENST00000361203.3	-	14	1472	c.1465A>G	c.(1465-1467)Ata>Gta	p.I489V	DST_ENST00000244364.6_Missense_Mutation_p.I163V|DST_ENST00000370765.6_Missense_Mutation_p.I163V|DST_ENST00000370754.5_Missense_Mutation_p.I667V|DST_ENST00000421834.2_Missense_Mutation_p.I489V|DST_ENST00000446842.2_Missense_Mutation_p.I163V|DST_ENST00000370769.4_Missense_Mutation_p.I489V|DST_ENST00000312431.6_Missense_Mutation_p.I489V|DST_ENST00000518935.1_Missense_Mutation_p.I163V|DST_ENST00000370788.2_Missense_Mutation_p.I489V			Q03001	DYST_HUMAN	dystonin	489					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTGTCAGTATGCGTCCTTTG	0.428																																																	0			6											111.0	109.0	110.0					6																	56505333		2203	4300	6503	56613292	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1465A>G	6.37:g.56505333T>C	ENSP00000354508:p.Ile489Val		56613292	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	8.379	0.837149	0.16891	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.65	-4.89	0.03103	.	1.540830	0.03921	N	0.283513	T	0.58133	0.2101	N	0.03608	-0.345	0.09310	N	0.999992	B;B;B;B;B;B;B;B;B;B	0.15473	0.0;0.0;0.0;0.0;0.013;0.0;0.0;0.0;0.0;0.003	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.0;0.0;0.0;0.004;0.0;0.0;0.0;0.0;0.002	T	0.60078	-0.7333	9	0.25106	T	0.35	.	2.8844	0.05657	0.0928:0.2964:0.2901:0.3207	.	518;489;489;667;605;163;163;163;489;163	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	V	163;667;489;489;163;489;489;489;163;529;163;163;667	ENSP00000244364:I163V;ENSP00000359790:I667V;ENSP00000359805:I489V;ENSP00000400883:I489V;ENSP00000393645:I163V;ENSP00000307959:I489V;ENSP00000359824:I489V;ENSP00000354508:I489V;ENSP00000404924:I163V;ENSP00000431030:I529V;ENSP00000359801:I163V;ENSP00000431003:I163V;ENSP00000393082:I667V	ENSP00000244364:I163V	I	-	1	0	DST	56613292	1.000000	0.71417	0.808000	0.32385	0.935000	0.57460	1.183000	0.32041	-0.536000	0.06298	-0.313000	0.08912	ATA		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
SIM1	6492	hgsc.bcm.edu	37	6	100838889	100838889	+	Missense_Mutation	SNP	C	C	T	rs137870558		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:100838889C>T	ENST00000369208.3	-	12	2431	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	SIM1_ENST00000262901.4_Missense_Mutation_p.R550H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	550	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGCTCAGTACGATATCGGTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		16431	0.0		0.0	False		,,,				2504	0.001																0			6						C	HIS/ARG	0,4406		0,0,2203	87.0	91.0	89.0		1649	5.9	1.0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	missense	SIM1	NM_005068.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	550/767	100838889	2,13004	2203	4300	6503	100945610	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1649G>A	6.37:g.100838889C>T	ENSP00000358210:p.Arg550His		100945610	Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632217	0.29068	0.0	2.33E-4	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.32515	1.45;1.45	5.9	5.9	0.94986	Single-minded, C-terminal (2);	0.092906	0.85682	D	0.000000	T	0.09862	0.0242	N	0.12182	0.205	0.58432	D	0.999997	B	0.09022	0.002	B	0.08055	0.003	T	0.06770	-1.0808	10	0.36615	T	0.2	.	14.4259	0.67215	0.0:0.9302:0.0:0.0698	.	550	P81133	SIM1_HUMAN	H	550	ENSP00000358210:R550H;ENSP00000262901:R550H	ENSP00000262901:R550H	R	-	2	0	SIM1	100945610	0.920000	0.31207	0.993000	0.49108	0.990000	0.78478	1.881000	0.39638	2.788000	0.95919	0.650000	0.86243	CGT		0.428	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
FAM184A	79632	hgsc.bcm.edu	37	6	119399306	119399306	+	Splice_Site	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:119399306C>T	ENST00000338891.7	-	1	602	c.159G>A	c.(157-159)aaG>aaA	p.K53K	FAM184A_ENST00000521531.1_Splice_Site_p.K53K|FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000522284.1_Intron	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	53						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCCCCCTTACCTTGGTGAGCT	0.701																																																	0			6											20.0	22.0	21.0					6																	119399306		1986	4159	6145	119441005	SO:0001630	splice_region_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.159+1G>A	6.37:g.119399306C>T			119441005	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																				0.701	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	Silent
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SUPT6H	6830	hgsc.bcm.edu	37	17	27000472	27000472	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:27000472A>G	ENST00000314616.6	+	2	336	c.53A>G	c.(52-54)gAt>gGt	p.D18G	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D18G|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	18	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAATACAATGATGAAGGCGAG	0.498																																																	0			17											89.0	84.0	86.0					17																	27000472		2203	4300	6503	24024599	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.53A>G	17.37:g.27000472A>G	ENSP00000319104:p.Asp18Gly		24024599	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.408933	0.42715	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.75	5.75	0.90469	.	0.149195	0.64402	D	0.000018	T	0.39358	0.1075	N	0.08118	0	0.39561	D	0.969121	B	0.17667	0.023	B	0.13407	0.009	T	0.27054	-1.0085	9	0.31617	T	0.26	-14.4731	16.0518	0.80769	1.0:0.0:0.0:0.0	.	18	Q7KZ85	SPT6H_HUMAN	G	18	.	ENSP00000319104:D18G	D	+	2	0	SUPT6H	24024599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.848000	0.92172	2.191000	0.70037	0.533000	0.62120	GAT		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
CDC6	990	hgsc.bcm.edu	37	17	38447589	38447589	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:38447589A>G	ENST00000209728.4	+	3	929	c.458A>G	c.(457-459)gAa>gGa	p.E153G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	153					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTCAAGCAAGAAGGTTTGTTC	0.408																																																	0			17											84.0	87.0	86.0					17																	38447589		2203	4300	6503	35701115	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.458A>G	17.37:g.38447589A>G	ENSP00000209728:p.Glu153Gly		35701115	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712008	0.48517	.	.	ENSG00000094804	ENST00000209728	T	0.53640	0.61	5.86	4.76	0.60689	.	0.253355	0.45126	D	0.000395	T	0.43366	0.1244	L	0.59436	1.845	0.45464	D	0.998435	B	0.19073	0.033	B	0.13407	0.009	T	0.25572	-1.0128	10	0.26408	T	0.33	-2.1609	12.3968	0.55389	0.8592:0.1408:0.0:0.0	.	153	Q99741	CDC6_HUMAN	G	153	ENSP00000209728:E153G	ENSP00000209728:E153G	E	+	2	0	CDC6	35701115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.682000	0.54656	1.101000	0.41535	0.528000	0.53228	GAA		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		
C17orf64	124773	hgsc.bcm.edu	37	17	58506840	58506840	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:58506840C>T	ENST00000269127.4	+	5	631	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	183										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			CATGAAGGAGCGGCTGTCCAA	0.612																																																	0			17											53.0	52.0	52.0					17																	58506840		2203	4300	6503	55861622	SO:0001583	missense	124773			BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.547C>T	17.37:g.58506840C>T	ENSP00000269127:p.Arg183Trp		55861622	Q8IY87	Missense_Mutation	SNP	ENST00000269127.4	37	CCDS32698.2	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386648	0.42308	.	.	ENSG00000141371	ENST00000269127	.	.	.	4.89	2.68	0.31781	.	0.223009	0.31859	N	0.006944	T	0.57257	0.2041	M	0.70595	2.14	0.31036	N	0.71687	D	0.76494	0.999	P	0.61722	0.893	T	0.60571	-0.7237	9	0.87932	D	0	-33.3571	4.4176	0.11465	0.6756:0.2186:0.1058:0.0	.	183	Q86WR6	CQ064_HUMAN	W	183	.	ENSP00000269127:R183W	R	+	1	2	C17orf64	55861622	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	0.863000	0.27913	0.724000	0.32296	-0.397000	0.06425	CGG		0.612	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707	
OTOP3	347741	hgsc.bcm.edu	37	17	72945464	72945464	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:72945464C>T	ENST00000328801.4	+	7	1744	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	582						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGTCTTCTACCGCATGCACTC	0.597																																																	0			17											63.0	58.0	60.0					17																	72945464		2203	4300	6503	70457059	SO:0001583	missense	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1744C>T	17.37:g.72945464C>T	ENSP00000328090:p.Arg582Cys		70457059		Missense_Mutation	SNP	ENST00000328801.4	37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639199	0.67244	.	.	ENSG00000182938	ENST00000328801	T	0.54866	0.55	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.72045	0.3412	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76345	-0.2993	10	0.87932	D	0	-24.9005	10.9265	0.47193	0.3293:0.6707:0.0:0.0	.	582	Q7RTS5	OTOP3_HUMAN	C	582	ENSP00000328090:R582C	ENSP00000328090:R582C	R	+	1	0	OTOP3	70457059	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	0.933000	0.28897	1.946000	0.56461	0.313000	0.20887	CGC		0.597	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
NUP85	79902	hgsc.bcm.edu	37	17	73231686	73231686	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:73231686A>G	ENST00000245544.4	+	19	1954	c.1883A>G	c.(1882-1884)gAg>gGg	p.E628G	NUP85_ENST00000579324.1_Missense_Mutation_p.E516G|NUP85_ENST00000579298.1_Missense_Mutation_p.E583G|NUP85_ENST00000540768.1_Missense_Mutation_p.E231G|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.E582G	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	628					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GATGACATAGAGACCACCAAG	0.498																																																	0			17											81.0	76.0	78.0					17																	73231686		2203	4300	6503	70743281	SO:0001583	missense	79902			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1883A>G	17.37:g.73231686A>G	ENSP00000245544:p.Glu628Gly		70743281	B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944389	0.73672	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.91	4.83	0.62350	.	0.046847	0.85682	D	0.000000	T	0.35038	0.0918	N	0.08118	0	0.80722	D	1	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.17806	-1.0357	9	0.25106	T	0.35	-23.556	11.4297	0.50032	0.9304:0.0:0.0696:0.0	.	582;628	B4DMQ3;Q9BW27	.;NUP85_HUMAN	G	628;582;231	.	ENSP00000245544:E628G	E	+	2	0	NUP85	70743281	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	6.657000	0.74402	2.254000	0.74563	0.533000	0.62120	GAG		0.498	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844	
RNF213	57674	hgsc.bcm.edu	37	17	78317685	78317685	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:78317685T>C	ENST00000582970.1	+	28	6355	c.6212T>C	c.(6211-6213)tTc>tCc	p.F2071S	RNF213_ENST00000336301.6_Missense_Mutation_p.F144S|RNF213_ENST00000508628.2_Missense_Mutation_p.F2120S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2071					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTTTCTTTTCAAGCTCCTC	0.443																																																	0			17											177.0	159.0	165.0					17																	78317685		2203	4300	6503	75932280	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6212T>C	17.37:g.78317685T>C	ENSP00000464087:p.Phe2071Ser		75932280	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.941927	0.53079	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.60672	0.17	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	L	0.36672	1.1	0.41884	D	0.990333	D	0.89917	1.0	D	0.97110	1.0	T	0.72187	-0.4366	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:0.0:1.0	.	144	Q63HN8	RN213_HUMAN	S	2071;2120;144	ENSP00000338218:F144S	ENSP00000338218:F144S	F	+	2	0	RNF213	75932280	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.232000	0.78116	2.265000	0.75225	0.459000	0.35465	TTC		0.443	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
TMEM50B	757	hgsc.bcm.edu	37	21	34828045	34828045	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr21:34828045A>G	ENST00000542230.2	-	6	634	c.420T>C	c.(418-420)ctT>ctC	p.L140L		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	140						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L140L(1)		breast(1)|kidney(1)|ovary(1)|skin(1)	4						TAAAAAATATAAGTGCATTTT	0.318																																																	1	Substitution - coding silent(1)	ovary(1)	21											98.0	97.0	97.0					21																	34828045		2202	4298	6500	33749915	SO:0001819	synonymous_variant	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.420T>C	21.37:g.34828045A>G			33749915	B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	ENST00000542230.2	37	CCDS13625.1																																																																																				0.318	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5		
RUNX1	861	hgsc.bcm.edu	37	21	36252867	36252867	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr21:36252867A>G	ENST00000344691.4	-	2	1991	c.414T>C	c.(412-414)ggT>ggC	p.G138G	RUNX1_ENST00000399240.1_Silent_p.G138G|RUNX1_ENST00000358356.5_Silent_p.G138G|RUNX1_ENST00000486278.2_Silent_p.G141G|RUNX1_ENST00000325074.5_Silent_p.G153G|RUNX1_ENST00000300305.3_Silent_p.G165G|RUNX1_ENST00000437180.1_Silent_p.G165G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	138	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G165_R166insGG(1)|p.R166fs*47(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TTCCACTTCGACCGACAAACC	0.428			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Insertion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	21											122.0	108.0	113.0					21																	36252867		2203	4300	6503	35174737	SO:0001819	synonymous_variant	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.414T>C	21.37:g.36252867A>G			35174737	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	CCDS42922.1																																																																																				0.428	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1		
MORC3	23515	hgsc.bcm.edu	37	21	37744778	37744778	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr21:37744778T>C	ENST00000400485.1	+	16	2691	c.2615T>C	c.(2614-2616)gTt>gCt	p.V872A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	872					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCAACAGATGTTTCAACATCA	0.368																																																	0			21											143.0	131.0	134.0					21																	37744778		1848	4103	5951	36666648	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2615T>C	21.37:g.37744778T>C	ENSP00000383333:p.Val872Ala		36666648	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	T	7.677	0.688221	0.14973	.	.	ENSG00000159256	ENST00000400485	D	0.88046	-2.33	5.6	3.05	0.35203	.	0.639196	0.16071	N	0.231017	T	0.77370	0.4120	L	0.47716	1.5	0.25346	N	0.988907	B	0.20887	0.049	B	0.14023	0.01	T	0.58457	-0.7633	10	0.07482	T	0.82	-9.8741	4.8885	0.13715	0.2503:0.0:0.2538:0.4958	.	872	Q14149	MORC3_HUMAN	A	872	ENSP00000383333:V872A	ENSP00000383333:V872A	V	+	2	0	MORC3	36666648	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	1.927000	0.40094	0.911000	0.36747	0.402000	0.26972	GTT		0.368	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
ABCC1	4363	hgsc.bcm.edu	37	16	16162034	16162034	+	Missense_Mutation	SNP	G	G	A	rs545772203		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr16:16162034G>A	ENST00000399410.3	+	13	1874	c.1699G>A	c.(1699-1701)Gtc>Atc	p.V567I	ABCC1_ENST00000349029.5_Missense_Mutation_p.V567I|ABCC1_ENST00000399408.2_Missense_Mutation_p.V567I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V567I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V567I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V567I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	567	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CACATTTGCCGTCTACGTGAC	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19450	0.0		0.0	False		,,,				2504	0.0																0			16											176.0	172.0	173.0					16																	16162034		2127	4239	6366	16069535	SO:0001583	missense	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1699G>A	16.37:g.16162034G>A	ENSP00000382342:p.Val567Ile		16069535	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751466	0.69533	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	4.46	4.46	0.54185	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	L	0.56124	1.755	0.54753	D	0.99998	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.989;1.0;1.0	D;D;D;P;D;D	0.91635	0.991;0.991;0.997;0.85;0.999;0.998	D	0.94497	0.7706	10	0.72032	D	0.01	-40.2625	15.6775	0.77338	0.0:0.0:1.0:0.0	.	567;567;567;567;567;567	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	I	567;567;567;567;567;567;241	ENSP00000382342:V567I;ENSP00000382340:V567I;ENSP00000263019:V567I;ENSP00000263017:V567I;ENSP00000263014:V567I;ENSP00000263016:V567I	ENSP00000263014:V567I	V	+	1	0	ABCC1	16069535	1.000000	0.71417	0.988000	0.46212	0.173000	0.22820	9.551000	0.98112	2.030000	0.59900	0.462000	0.41574	GTC		0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
SMG1	23049	hgsc.bcm.edu	37	16	18861437	18861437	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr16:18861437A>G	ENST00000446231.2	-	35	5707	c.5295T>C	c.(5293-5295)gaT>gaC	p.D1765D	SMG1_ENST00000389467.3_Silent_p.D1765D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1765	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGTCATCCTCATCTAAAGGAA	0.393																																																	0			16											64.0	62.0	62.0					16																	18861437		1958	4155	6113	18768938	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5295T>C	16.37:g.18861437A>G			18768938	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.393	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
DCUN1D3	123879	hgsc.bcm.edu	37	16	20871560	20871560	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr16:20871560T>C	ENST00000324344.4	-	3	848	c.563A>G	c.(562-564)cAg>cGg	p.Q188R	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.Q188R	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	188	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CAGGCCAAACTGAAATGTAAA	0.483																																																	0			16											149.0	152.0	151.0					16																	20871560		2201	4300	6501	20779061	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.563A>G	16.37:g.20871560T>C	ENSP00000319482:p.Gln188Arg		20779061	B3KVY4	Missense_Mutation	SNP	ENST00000324344.4	37	CCDS10592.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157952	0.38119	.	.	ENSG00000188215	ENST00000324344	.	.	.	5.92	5.92	0.95590	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	N	0.02960	-0.455	0.80722	D	1	B	0.23377	0.084	B	0.22880	0.042	T	0.25152	-1.0140	9	0.08599	T	0.76	.	16.3662	0.83325	0.0:0.0:0.0:1.0	.	188	Q8IWE4	DCNL3_HUMAN	R	188	.	ENSP00000319482:Q188R	Q	-	2	0	DCUN1D3	20779061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.980000	0.88113	2.274000	0.75844	0.533000	0.62120	CAG		0.483	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475	
CDH1	999	hgsc.bcm.edu	37	16	68835727	68835727	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr16:68835727C>T	ENST00000261769.5	+	3	509	c.318C>T	c.(316-318)acC>acT	p.T106T	CDH1_ENST00000422392.2_Silent_p.T106T|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	106					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGGACTCCACCTACAGAAAGT	0.517			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)	16											121.0	111.0	115.0					16																	68835727		2198	4300	6498	67393228	SO:0001819	synonymous_variant	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.318C>T	16.37:g.68835727C>T			67393228	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	CCDS10869.1																																																																																				0.517	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
FBXO15	201456	hgsc.bcm.edu	37	18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	rs144253482		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr18:71790624G>A	ENST00000419743.2	-	8	1196	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15347	0.0		0.0	False		,,,				2504	0.001																0			18						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	76.0	76.0		1117,889	4.6	0.0	18	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO15	NM_001142958.1,NM_152676.2	180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	373/511,297/435	71790624	2,13004	2203	4300	6503	69941604	SO:0001583	missense	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1117C>T	18.37:g.71790624G>A	ENSP00000393154:p.Arg373Cys		69941604	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822669	0.32237	2.27E-4	1.16E-4	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.88;0.88	5.45	4.58	0.56647	.	0.718217	0.13850	N	0.358421	T	0.50837	0.1639	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50490	0.642;0.549	T	0.46775	-0.9167	10	0.87932	D	0	-24.4827	14.1359	0.65287	0.0:0.1514:0.8486:0.0	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	297;373	ENSP00000269500:R297C;ENSP00000393154:R373C	ENSP00000269500:R297C	R	-	1	0	FBXO15	69941604	0.793000	0.28825	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	1.290000	0.44636	0.655000	0.94253	CGC		0.428	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
VHL	7428	hgsc.bcm.edu	37	3	10188210	10188210	+	Missense_Mutation	SNP	T	T	C	rs5030830		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:10188210T>C	ENST00000256474.2	+	2	1193	c.353T>C	c.(352-354)cTc>cCc	p.L118P	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	118	Involved in binding to CCT complex.		L -> P (in VHLD; type I; dbSNP:rs5030830). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> R (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L118P(5)|p.?(1)|p.L118H(1)|p.W117fs*40(1)|p.L118_G123>P(1)|p.W117fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACCTTTGGCTCTTCAGAGAT	0.512		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Substitution - Missense(6)|Deletion - Frameshift(2)|Unknown(1)|Complex - deletion inframe(1)	kidney(9)|large_intestine(1)	3	GRCh37	CM941373|CM961426	VHL	M	rs5030830						180.0	167.0	171.0					3																	10188210		2203	4300	6503	10163210	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.353T>C	3.37:g.10188210T>C	ENSP00000256474:p.Leu118Pro		10163210	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152050	0.57259	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.119674	0.56097	D	0.000037	D	0.99674	0.9878	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97192	0.9858	10	0.87932	D	0	0.0466	13.0887	0.59156	0.0:0.0:0.0:1.0	rs5030830	118	P40337	VHL_HUMAN	P	118;36	ENSP00000256474:L118P	ENSP00000256474:L118P	L	+	2	0	VHL	10163210	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	5.968000	0.70413	2.047000	0.60756	0.460000	0.39030	CTC		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
EOMES	8320	hgsc.bcm.edu	37	3	27760315	27760315	+	Missense_Mutation	SNP	C	C	T	rs371656694		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:27760315C>T	ENST00000295743.4	-	4	1431	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Missense_Mutation_p.V410M|EOMES_ENST00000537516.1_Missense_Mutation_p.V115M			O95936	EOMES_HUMAN	eomesodermin	410					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AAGTCCTCCACGCCATCCTCT	0.428																																																	0			3						C	MET/VAL	0,4406		0,0,2203	115.0	112.0	113.0		1228	5.3	1.0	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	EOMES	NM_005442.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	410/687	27760315	1,13005	2203	4300	6503	27735319	SO:0001583	missense	8320			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1228G>A	3.37:g.27760315C>T	ENSP00000295743:p.Val410Met		27735319	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530460	0.85706	0.0	1.16E-4	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.87729	-2.29;-2.29;-2.29	5.34	5.34	0.76211	p53-like transcription factor, DNA-binding (1);	0.061993	0.64402	D	0.000004	D	0.90314	0.6970	L	0.38649	1.16	0.80722	D	1	D;D;D	0.71674	0.973;0.998;0.998	P;D;D	0.66716	0.671;0.91;0.946	D	0.90065	0.4159	10	0.48119	T	0.1	.	19.4408	0.94820	0.0:1.0:0.0:0.0	.	124;410;410	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	M	410;410;115;275	ENSP00000295743:V410M;ENSP00000388620:V410M;ENSP00000442097:V115M	ENSP00000295743:V410M	V	-	1	0	EOMES	27735319	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	4.967000	0.63722	2.677000	0.91161	0.655000	0.94253	GTG		0.428	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	3											84.0	74.0	78.0					3																	41266136		2203	4300	6503	41241140	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro		41241140	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266181	41266181	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:41266181T>C	ENST00000349496.5	+	3	458	c.178T>C	c.(178-180)Tcc>Ccc	p.S60P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S60P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S53P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S60P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S60P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	60					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGTGGATACCTCCCAAGTCCT	0.458		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	108	Deletion - In frame(86)|Complex - deletion inframe(15)|Unknown(7)	liver(79)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	3											65.0	62.0	63.0					3																	41266181		2203	4300	6503	41241185	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.178T>C	3.37:g.41266181T>C	ENSP00000344456:p.Ser60Pro		41241185	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871453	0.33069	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.91	3.48	0.39840	.	0.154766	0.56097	D	0.000040	T	0.28466	0.0704	L	0.35854	1.095	0.29701	N	0.840169	B	0.02656	0.0	B	0.04013	0.001	T	0.17107	-1.0380	10	0.29301	T	0.29	-3.6161	6.1112	0.20102	0.71:0.0:0.0846:0.2053	.	60	P35222	CTNB1_HUMAN	P	53;60;60;60;60;53;60;60;60	ENSP00000400508:S53P;ENSP00000385604:S60P;ENSP00000412219:S60P;ENSP00000379486:S60P;ENSP00000344456:S60P;ENSP00000411226:S53P;ENSP00000379488:S60P;ENSP00000409302:S60P;ENSP00000401599:S60P	ENSP00000344456:S60P	S	+	1	0	CTNNB1	41241185	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.318000	0.79029	0.464000	0.27142	0.533000	0.62120	TCC		0.458	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
PRICKLE2	166336	hgsc.bcm.edu	37	3	64085170	64085170	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:64085170C>T	ENST00000295902.6	-	8	2677	c.2092G>A	c.(2092-2094)Gcc>Acc	p.A698T	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A754T	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	698	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGTGGAGGGCGTTGTCGGAG	0.617																																																	0			3											44.0	47.0	46.0					3																	64085170		2203	4300	6503	64060210	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2092G>A	3.37:g.64085170C>T	ENSP00000295902:p.Ala698Thr		64060210	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057797	0.93846	.	.	ENSG00000163637	ENST00000295902	D	0.90676	-2.71	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.94955	0.8368	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95139	0.8262	10	0.87932	D	0	-28.0869	19.3767	0.94512	0.0:1.0:0.0:0.0	.	698	Q7Z3G6	PRIC2_HUMAN	T	698	ENSP00000295902:A698T	ENSP00000295902:A698T	A	-	1	0	PRICKLE2	64060210	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.209000	0.77916	2.651000	0.90000	0.591000	0.81541	GCC		0.617	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
VGLL3	389136	hgsc.bcm.edu	37	3	87027942	87027942	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:87027942G>A	ENST00000398399.2	-	2	500	c.137C>T	c.(136-138)gCg>gTg	p.A46V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAATACCGCTAACTTCTT	0.428																																																	0			3											57.0	54.0	55.0					3																	87027942		1942	4165	6107	87110632	SO:0001583	missense	389136			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.137C>T	3.37:g.87027942G>A	ENSP00000381436:p.Ala46Val		87110632		Missense_Mutation	SNP	ENST00000398399.2	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471695	0.43942	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.55234	0.57;0.53	5.14	5.14	0.70334	.	0.353082	0.30193	N	0.010196	T	0.35653	0.0939	L	0.32530	0.975	0.34741	D	0.730782	P	0.49961	0.93	B	0.30943	0.122	T	0.58521	-0.7622	10	0.66056	D	0.02	-7.3039	12.9789	0.58552	0.0777:0.0:0.9223:0.0	.	46	A8MV65	VGLL3_HUMAN	V	46	ENSP00000381436:A46V;ENSP00000373199:A46V	ENSP00000373199:A46V	A	-	2	0	VGLL3	87110632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.733000	0.38156	2.391000	0.81399	0.655000	0.94253	GCG		0.428	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206	
TRPC1	7220	hgsc.bcm.edu	37	3	142525010	142525010	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:142525010G>A	ENST00000476941.1	+	13	2801	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q	TRPC1_ENST00000273482.6_Missense_Mutation_p.R738Q	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	772					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCAAAATTCCGAAATGAAATA	0.363																																																	0			3											80.0	79.0	80.0					3																	142525010		2203	4300	6503	144007700	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2315G>A	3.37:g.142525010G>A	ENSP00000419313:p.Arg772Gln		144007700	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516550	0.85495	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.89343	-2.5;-2.5	5.59	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	L	0.54965	1.715	0.80722	D	1	B;D	0.89917	0.029;1.0	B;D	0.85130	0.003;0.997	D	0.92513	0.6018	10	0.51188	T	0.08	-12.5995	14.4326	0.67261	0.0708:0.0:0.9292:0.0	.	772;738	P48995;P48995-2	TRPC1_HUMAN;.	Q	772;738	ENSP00000419313:R772Q;ENSP00000273482:R738Q	ENSP00000273482:R738Q	R	+	2	0	TRPC1	144007700	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.455000	0.97625	1.378000	0.46305	0.563000	0.77884	CGA		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916875	178916875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:178916875C>T	ENST00000263967.3	+	2	419	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAGACGACTTTGTGA	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											108.0	102.0	104.0					3																	178916875		1821	4079	5900	180399569	SO:0001587	stop_gained	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.262C>T	3.37:g.178916875C>T	ENSP00000263967:p.Arg88*		180399569	Q14CW1|Q99762	Nonsense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350936	0.82132	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	.	.	.	5.44	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.8194	14.1999	0.65696	0.408:0.592:0.0:0.0	.	.	.	.	X	88	.	.	R	+	1	2	PIK3CA	180399569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.500000	0.35682	0.622000	0.30249	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
KLHL24	54800	hgsc.bcm.edu	37	3	183368865	183368865	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:183368865G>A	ENST00000454652.2	+	4	1107	c.721G>A	c.(721-723)Gtt>Att	p.V241I	KLHL24_ENST00000242810.6_Missense_Mutation_p.V241I|KLHL24_ENST00000476808.1_Missense_Mutation_p.V241I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	241	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTATCGTGCCGTTGATCTGAG	0.418																																																	0			3											140.0	133.0	136.0					3																	183368865		2203	4300	6503	184851559	SO:0001583	missense	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.721G>A	3.37:g.183368865G>A	ENSP00000395012:p.Val241Ile		184851559	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273662	0.80580	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.09	5.09	0.68999	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.42686	1.345	0.80722	D	1	D;P	0.55605	0.972;0.635	B;B	0.41723	0.365;0.274	T	0.63283	-0.6672	10	0.35671	T	0.21	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	241;241	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	I	241	ENSP00000242810:V241I;ENSP00000395012:V241I;ENSP00000419010:V241I	ENSP00000242810:V241I	V	+	1	0	KLHL24	184851559	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	7.540000	0.82074	2.361000	0.80049	0.460000	0.39030	GTT		0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644	
ALG3	10195	hgsc.bcm.edu	37	3	183963060	183963060	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:183963060C>T	ENST00000397676.3	-	4	561	c.531G>A	c.(529-531)gtG>gtA	p.V177V	ALG3_ENST00000418734.2_Silent_p.V121V|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000445626.2_Silent_p.V129V|ALG3_ENST00000455059.1_Silent_p.V137V	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	177					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACCATGGCCACTGGGTCAT	0.547																																																	0			3											34.0	38.0	37.0					3																	183963060		2017	4186	6203	185445754	SO:0001819	synonymous_variant	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.531G>A	3.37:g.183963060C>T			185445754	A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	9.659	1.143611	0.21205	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.14	3.32	0.38043	.	.	.	.	.	T	0.59211	0.2177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53222	-0.8469	4	.	.	.	-9.6794	9.6045	0.39626	0.0:0.8288:0.0:0.1712	.	.	.	.	S	81	.	.	G	-	1	0	ALG3	185445754	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	0.910000	0.28571	0.535000	0.28714	0.462000	0.41574	GGC		0.547	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
CHRD	8646	hgsc.bcm.edu	37	3	184102473	184102473	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:184102473G>A	ENST00000204604.1	+	13	1835	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	CHRD_ENST00000545352.1_Missense_Mutation_p.R160H|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.R490H|CHRD_ENST00000450923.1_Missense_Mutation_p.R530H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	530	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATAGCGCCCGCCATGACAGT	0.587																																																	0			3											43.0	38.0	40.0					3																	184102473		2202	4300	6502	185585167	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1589G>A	3.37:g.184102473G>A	ENSP00000204604:p.Arg530His		185585167	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023180	0.35701	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.50813	2.53;2.31;2.32;0.73	5.23	4.34	0.51931	CHRD (1);	0.239700	0.39909	N	0.001227	T	0.40448	0.1117	L	0.51422	1.61	0.48696	D	0.999695	B;P;B;P	0.38440	0.362;0.631;0.163;0.498	B;B;B;B	0.31751	0.117;0.135;0.05;0.064	T	0.44559	-0.9320	10	0.59425	D	0.04	-9.8221	13.7096	0.62661	0.0775:0.0:0.9225:0.0	.	160;490;530;530	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	H	530;530;490;160;243	ENSP00000204604:R530H;ENSP00000408972:R530H;ENSP00000334036:R490H;ENSP00000442948:R160H	ENSP00000204604:R530H	R	+	2	0	CHRD	185585167	0.997000	0.39634	1.000000	0.80357	0.230000	0.25150	1.000000	0.29770	1.498000	0.48600	0.655000	0.94253	CGC		0.587	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
EIF4A2	1974	hgsc.bcm.edu	37	3	186503978	186503978	+	Silent	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:186503978T>C	ENST00000323963.5	+	6	607	c.543T>C	c.(541-543)gtT>gtC	p.V181V	SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Silent_p.V86V|SNORA63_ENST00000363548.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000440191.2_Silent_p.V182V|SNORD2_ENST00000459163.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	181	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		V -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAATGTTTGTTTTGGATGAAG	0.328			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0			3											79.0	78.0	79.0					3																	186503978		2203	4300	6503	187986672	SO:0001819	synonymous_variant	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.543T>C	3.37:g.186503978T>C			187986672	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	ENST00000323963.5	37	CCDS3282.1																																																																																				0.328	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967	
CD163L1	283316	hgsc.bcm.edu	37	12	7531632	7531632	+	Silent	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:7531632T>C	ENST00000313599.3	-	9	2370	c.2313A>G	c.(2311-2313)cgA>cgG	p.R771R	CD163L1_ENST00000396630.1_Silent_p.R771R|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Silent_p.R781R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACTCCCATCGTATACAAT	0.403																																																	0			12											71.0	72.0	71.0					12																	7531632		2203	4300	6503	7422899	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2313A>G	12.37:g.7531632T>C			7422899	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.403	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
FGD4	121512	hgsc.bcm.edu	37	12	32778645	32778645	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:32778645T>C	ENST00000427716.2	+	14	2117	c.1693T>C	c.(1693-1695)Tgt>Cgt	p.C565R	FGD4_ENST00000266482.3_Missense_Mutation_p.C317R|FGD4_ENST00000546442.1_Missense_Mutation_p.C472R|FGD4_ENST00000531134.1_Missense_Mutation_p.C650R|FGD4_ENST00000525053.1_Missense_Mutation_p.C677R|FGD4_ENST00000534526.2_Missense_Mutation_p.C702R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	565					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGTGACAATGTGTATGAAATG	0.373																																																	0			12											120.0	116.0	117.0					12																	32778645		2203	4300	6503	32669912	SO:0001583	missense	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1693T>C	12.37:g.32778645T>C	ENSP00000394487:p.Cys565Arg		32669912	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328530	0.81690	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	D;D;D;D;D;D	0.97831	-3.32;-3.32;-3.32;-4.56;-3.32;-3.32	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.358411	0.23900	N	0.043445	D	0.99318	0.9761	H	0.98918	4.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.994	D	0.98552	1.0637	10	0.87932	D	0	-10.9357	15.3974	0.74808	0.0:0.0:0.0:1.0	.	677;650;565;317	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	R	702;650;565;317;472;677	ENSP00000449273:C702R;ENSP00000431323:C650R;ENSP00000394487:C565R;ENSP00000266482:C317R;ENSP00000446695:C472R;ENSP00000433666:C677R	ENSP00000266482:C317R	C	+	1	0	FGD4	32669912	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.380000	0.79704	2.030000	0.59900	0.454000	0.30748	TGT		0.373	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	
TFCP2	7024	hgsc.bcm.edu	37	12	51512474	51512474	+	Silent	SNP	T	T	C	rs146119086		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:51512474T>C	ENST00000257915.5	-	2	662	c.204A>G	c.(202-204)caA>caG	p.Q68Q	TFCP2_ENST00000307660.4_Silent_p.Q68Q|TFCP2_ENST00000548115.1_Silent_p.Q68Q|TFCP2_ENST00000549867.1_Silent_p.Q68Q	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	68					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q68H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAAGCACATATTGAAAAGGCA	0.383																																																	1	Substitution - Missense(1)	ovary(1)	12											185.0	175.0	179.0					12																	51512474		2203	4300	6503	49798741	SO:0001819	synonymous_variant	7024			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.204A>G	12.37:g.51512474T>C			49798741	A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	ENST00000257915.5	37	CCDS8808.1																																																																																				0.383	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
NPFF	8620	hgsc.bcm.edu	37	12	53899461	53899461	+	IGR	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:53899461G>A	ENST00000267017.3	-	0	592				TARBP2_ENST00000552857.1_Silent_p.S123S|TARBP2_ENST00000266987.2_Missense_Mutation_p.R257Q|TARBP2_ENST00000456234.2_Missense_Mutation_p.R236Q|TARBP2_ENST00000394357.2_Missense_Mutation_p.R236Q	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						GATGGTCTTCGAAACCGGGGC	0.577																																																	0			12											117.0	121.0	120.0					12																	53899461		2203	4300	6503	52185728	SO:0001628	intergenic_variant	6895			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899461G>A			52185728	Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552843	0.65425	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	T;T;T	0.63255	-0.03;-0.03;-0.03	4.98	4.98	0.66077	.	0.300777	0.32624	N	0.005857	T	0.32376	0.0827	N	0.14661	0.345	0.40274	D	0.978324	P	0.43352	0.804	B	0.25140	0.058	T	0.29792	-1.0000	10	0.13470	T	0.59	-8.6472	9.5313	0.39196	0.0939:0.0:0.9061:0.0	.	257	Q15633	TRBP2_HUMAN	Q	257;236;236	ENSP00000266987:R257Q;ENSP00000416077:R236Q;ENSP00000377885:R236Q	ENSP00000266987:R257Q	R	+	2	0	TARBP2	52185728	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	3.058000	0.49939	2.759000	0.94783	0.561000	0.74099	CGA		0.577	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717	
SCYL2	55681	hgsc.bcm.edu	37	12	100708281	100708281	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:100708281T>G	ENST00000360820.2	+	8	1421	c.984T>G	c.(982-984)gaT>gaG	p.D328E		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	328					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCTTCTTTGATGATGTTGGTG	0.299																																																	0			12											59.0	57.0	58.0					12																	100708281		2203	4295	6498	99232412	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.984T>G	12.37:g.100708281T>G	ENSP00000354061:p.Asp328Glu		99232412	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498521	0.44455	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.73258	-0.73;-0.73	5.6	5.6	0.85130	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	N	0.12887	0.27	0.80722	D	1	B	0.15719	0.014	B	0.15052	0.012	T	0.49854	-0.8895	10	0.16896	T	0.51	.	15.7992	0.78439	0.0:0.0:0.0:1.0	.	328	Q6P3W7	SCYL2_HUMAN	E	328;155;328	ENSP00000448366:D328E;ENSP00000354061:D328E	ENSP00000258506:D155E	D	+	3	2	SCYL2	99232412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.977000	0.70492	2.143000	0.66587	0.460000	0.39030	GAT		0.299	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
PAH	5053	hgsc.bcm.edu	37	12	103249074	103249074	+	Silent	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:103249074T>C	ENST00000553106.1	-	6	1018	c.546A>G	c.(544-546)gaA>gaG	p.E182E	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Silent_p.E177E	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	182					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTTCTTTTCTTCCTCCATGT	0.463																																																	0			12											99.0	93.0	95.0					12																	103249074		2203	4300	6503	101773204	SO:0001819	synonymous_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.546A>G	12.37:g.103249074T>C			101773204	Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	CCDS9092.1																																																																																				0.463	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
STAB2	55576	hgsc.bcm.edu	37	12	104031890	104031890	+	Missense_Mutation	SNP	G	G	A	rs374968745		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:104031890G>A	ENST00000388887.2	+	8	1010	c.806G>A	c.(805-807)cGt>cAt	p.R269H		NM_017564.9	NP_060034.9			stabilin 2											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						GAAGGCTACCGTGGGGATGGC	0.498																																																	0			12						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	177.0	151.0	160.0		806	-10.7	0.0	12		160	1,8599		0,1,4299	no	missense	STAB2	NM_017564.9	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	269/2552	104031890	2,13004	2203	4300	6503	102556020	SO:0001583	missense	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.806G>A	12.37:g.104031890G>A	ENSP00000373539:p.Arg269His		102556020		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	0.287	-0.982590	0.02180	2.27E-4	1.16E-4	ENSG00000136011	ENST00000388887	T	0.04970	3.52	5.34	-10.7	0.00240	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.796511	0.11661	N	0.541825	T	0.03348	0.0097	N	0.20986	0.625	0.09310	N	0.999999	B	0.14438	0.01	B	0.09377	0.004	T	0.32508	-0.9904	10	0.26408	T	0.33	.	12.2094	0.54371	0.3687:0.0:0.539:0.0924	.	269	Q8WWQ8	STAB2_HUMAN	H	269	ENSP00000373539:R269H	ENSP00000373539:R269H	R	+	2	0	STAB2	102556020	0.000000	0.05858	0.000000	0.03702	0.453000	0.32348	-1.459000	0.02370	-2.678000	0.00410	-1.036000	0.02392	CGT		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
KNTC1	9735	hgsc.bcm.edu	37	12	123057756	123057756	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:123057756T>C	ENST00000333479.7	+	26	2384	c.2207T>C	c.(2206-2208)aTc>aCc	p.I736T	KNTC1_ENST00000450485.2_Missense_Mutation_p.I699T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	736					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATTCCCTCCATCTTAGAGAAG	0.393																																																	0			12											145.0	143.0	143.0					12																	123057756		1832	4085	5917	121623709	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2207T>C	12.37:g.123057756T>C	ENSP00000328236:p.Ile736Thr		121623709	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	T	2.236	-0.374941	0.05034	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.21191	2.02;2.61	5.66	3.23	0.37069	.	0.592037	0.18102	N	0.151644	T	0.08626	0.0214	N	0.04043	-0.29	0.19575	N	0.999962	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.33111	-0.9881	10	0.21014	T	0.42	-0.4593	7.635	0.28261	0.0:0.3316:0.0:0.6684	.	699;736	E7ES84;P50748	.;KNTC1_HUMAN	T	699;736	ENSP00000397992:I699T;ENSP00000328236:I736T	ENSP00000328236:I736T	I	+	2	0	KNTC1	121623709	0.003000	0.15002	0.047000	0.18901	0.008000	0.06430	1.644000	0.37228	0.951000	0.37770	0.533000	0.62120	ATC		0.393	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
RIMBP2	23504	hgsc.bcm.edu	37	12	130927134	130927134	+	Missense_Mutation	SNP	G	G	A	rs549158714		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:130927134G>A	ENST00000261655.4	-	8	875	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	RIMBP2_ENST00000535703.1_Missense_Mutation_p.R146W|RIMBP2_ENST00000536002.1_Missense_Mutation_p.R146W	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	238					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTTGCCAACCGCGACTCGTTG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18516	0.0		0.0	False		,,,				2504	0.001																0			12											130.0	129.0	129.0					12																	130927134		2203	4300	6503	129493087	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.712C>T	12.37:g.130927134G>A	ENSP00000261655:p.Arg238Trp		129493087	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885658	0.51908	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30448	1.53;1.53;1.53	4.53	3.61	0.41365	Src homology-3 domain (1);	0.538961	0.20115	N	0.098937	T	0.52837	0.1759	M	0.68317	2.08	0.42057	D	0.991146	D;D	0.89917	0.998;1.0	D;D	0.83275	0.928;0.996	T	0.55611	-0.8114	10	0.66056	D	0.02	-24.1815	13.5684	0.61832	0.0:0.0:0.8432:0.1568	.	146;238	O15034-2;O15034	.;RIMB2_HUMAN	W	238;146;146;146	ENSP00000261655:R238W;ENSP00000440347:R146W;ENSP00000439159:R146W	ENSP00000261655:R238W	R	-	1	2	RIMBP2	129493087	1.000000	0.71417	0.020000	0.16555	0.317000	0.28152	5.216000	0.65246	0.840000	0.34995	0.561000	0.74099	CGG		0.587	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GABRA5	2558	hgsc.bcm.edu	37	15	27182398	27182398	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr15:27182398C>T	ENST00000335625.5	+	8	1535	c.647C>T	c.(646-648)gCg>gTg	p.A216V	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.A216V|GABRA5_ENST00000400081.3_Missense_Mutation_p.A216V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	216					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Zopiclone(DB01198)	GTGGTGGTGGCGGAAGATGGC	0.572																																																	0			15											97.0	101.0	100.0					15																	27182398		2084	4208	6292	24765144	SO:0001583	missense	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.647C>T	15.37:g.27182398C>T	ENSP00000335592:p.Ala216Val		24765144	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489540	0.96323	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	T;T;T	0.79247	-1.25;-1.25;-1.25	5.13	5.13	0.70059	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.48642	1.525	0.80722	D	1	P	0.51933	0.949	P	0.48425	0.577	T	0.75280	-0.3373	10	0.27785	T	0.31	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	216	P31644	GBRA5_HUMAN	V	216	ENSP00000335592:A216V;ENSP00000347557:A216V;ENSP00000382953:A216V	ENSP00000335592:A216V	A	+	2	0	GABRA5	24765144	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.610000	0.82949	2.539000	0.85634	0.462000	0.41574	GCG		0.572	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
SLC12A6	9990	hgsc.bcm.edu	37	15	34547528	34547528	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr15:34547528A>G	ENST00000354181.3	-	8	1303	c.811T>C	c.(811-813)Tgc>Cgc	p.C271R	SLC12A6_ENST00000451844.2_Missense_Mutation_p.C83R|SLC12A6_ENST00000397707.2_Missense_Mutation_p.C256R|SLC12A6_ENST00000397702.2_Missense_Mutation_p.C212R|SLC12A6_ENST00000290209.5_Missense_Mutation_p.C220R|SLC12A6_ENST00000458406.2_Missense_Mutation_p.C212R|SLC12A6_ENST00000560164.1_Missense_Mutation_p.C83R|SLC12A6_ENST00000558667.1_Missense_Mutation_p.C271R|SLC12A6_ENST00000560611.1_Missense_Mutation_p.C271R|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Missense_Mutation_p.C262R			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	271					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGATAAAAGCAGAGGCCAACA	0.438																																																	0			15											86.0	88.0	87.0					15																	34547528		2201	4298	6499	32334820	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.811T>C	15.37:g.34547528A>G	ENSP00000346112:p.Cys271Arg		32334820	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433281	0.83776	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05	5.43	5.43	0.79202	Amino acid permease domain (1);	0.053820	0.85682	D	0.000000	D	0.99187	0.9718	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.69078	0.982;0.997;0.997;0.997	P;D;D;D	0.68943	0.831;0.926;0.917;0.961	D	0.99289	1.0898	10	0.87932	D	0	.	14.5986	0.68424	1.0:0.0:0.0:0.0	.	256;271;220;83	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	R	220;256;262;212;212;83	ENSP00000290209:C220R;ENSP00000380819:C256R;ENSP00000380814:C212R;ENSP00000387725:C212R;ENSP00000390199:C83R	ENSP00000290209:C220R	C	-	1	0	SLC12A6	32334820	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	TGC		0.438	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
MGA	23269	hgsc.bcm.edu	37	15	42041563	42041563	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr15:42041563A>G	ENST00000570161.1	+	16	5758	c.5758A>G	c.(5758-5760)Acc>Gcc	p.T1920A	MGA_ENST00000389936.4_Missense_Mutation_p.T1881A|MGA_ENST00000545763.1_Missense_Mutation_p.T1711A|MGA_ENST00000566586.1_Missense_Mutation_p.T1711A|MGA_ENST00000219905.7_Missense_Mutation_p.T1920A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.T1969A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTCTGAAACCAAAATAAC	0.463																																																	1	Substitution - Missense(1)	ovary(1)	15											60.0	55.0	57.0					15																	42041563		1874	4103	5977	39828855	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5758A>G	15.37:g.42041563A>G	ENSP00000457035:p.Thr1920Ala		39828855	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194424	0.38806	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.24350	1.86;1.86;1.86	5.72	4.56	0.56223	.	0.385199	0.22241	N	0.062697	T	0.11153	0.0272	N	0.08118	0	0.19945	N	0.999945	B;B;B;B	0.34372	0.451;0.433;0.048;0.048	B;B;B;B	0.33454	0.079;0.164;0.05;0.05	T	0.09058	-1.0692	10	0.38643	T	0.18	.	4.625	0.12474	0.624:0.0:0.0946:0.2814	.	536;1711;1920;1881	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	A	1920;1881;1711	ENSP00000219905:T1920A;ENSP00000374586:T1881A;ENSP00000442467:T1711A	ENSP00000219905:T1920A	T	+	1	0	MGA	39828855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.062000	0.41413	2.184000	0.69523	0.460000	0.39030	ACC		0.463	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
UNC13C	440279	hgsc.bcm.edu	37	15	54556406	54556406	+	Silent	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr15:54556406G>A	ENST00000260323.11	+	8	3489	c.3489G>A	c.(3487-3489)aaG>aaA	p.K1163K	UNC13C_ENST00000537900.1_Silent_p.K1161K|UNC13C_ENST00000545554.1_Silent_p.K1163K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1163					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCGAAGACAAGACTCAGACCA	0.378																																																	0			15											58.0	52.0	54.0					15																	54556406		1867	4089	5956	52343698	SO:0001819	synonymous_variant	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3489G>A	15.37:g.54556406G>A			52343698	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																				0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
CLPX	10845	hgsc.bcm.edu	37	15	65450131	65450131	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr15:65450131G>T	ENST00000300107.3	-	8	1198	c.1010C>A	c.(1009-1011)gCa>gAa	p.A337E		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	337					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GAGTAGTTTTGCAATCACAGA	0.403																																																	0			15											188.0	167.0	174.0					15																	65450131		2202	4299	6501	63237184	SO:0001583	missense	10845			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1010C>A	15.37:g.65450131G>T	ENSP00000300107:p.Ala337Glu		63237184	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857376	0.91433	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.42513	0.97	6.07	5.13	0.70059	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.37697	1.125	0.80722	D	1	D;P	0.89917	1.0;0.899	D;P	0.87578	0.998;0.826	T	0.54423	-0.8296	10	0.56958	D	0.05	.	16.8594	0.86014	0.0:0.0:0.8712:0.1288	.	337;337	Q9H072;O76031	.;CLPX_HUMAN	E	337	ENSP00000300107:A337E	ENSP00000300107:A337E	A	-	2	0	CLPX	63237184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GCA		0.403	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660	
TMEM202	338949	hgsc.bcm.edu	37	15	72691086	72691086	+	Silent	SNP	G	G	A	rs148667101		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr15:72691086G>A	ENST00000341689.3	+	2	228	c.174G>A	c.(172-174)acG>acA	p.T58T	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	58						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACATCCGAACGCTCTGTGGCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19245	0.0		0.001	False		,,,				2504	0.0																0			15						G		0,4398		0,0,2199	155.0	110.0	125.0		174	1.4	1.0	15	dbSNP_134	125	9,8585	6.4+/-24.3	0,9,4288	no	coding-synonymous	TMEM202	NM_001080462.1		0,9,6487	AA,AG,GG		0.1047,0.0,0.0693		58/274	72691086	9,12983	2199	4297	6496	70478140	SO:0001819	synonymous_variant	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.174G>A	15.37:g.72691086G>A			70478140		Silent	SNP	ENST00000341689.3	37	CCDS32287.1																																																																																				0.522	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
XG	7499	hgsc.bcm.edu	37	X	2729383	2729383	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:2729383T>C	ENST00000381174.5	+	9	641	c.416T>C	c.(415-417)aTg>aCg	p.M139T	XG_ENST00000419513.2_Missense_Mutation_p.M154T|XG_ENST00000426774.1_Missense_Mutation_p.M140T|snoU13_ENST00000516039.1_RNA			P55808	XG_HUMAN	Xg blood group	139						integral component of plasma membrane (GO:0005887)		p.M139T(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGGCAATATGGTAGCAAAA	0.438																																																	1	Substitution - Missense(1)	ovary(1)	X											51.0	48.0	49.0					X																	2729383		2203	4298	6501	2739383	SO:0001583	missense	100132596			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.416T>C	X.37:g.2729383T>C	ENSP00000370566:p.Met139Thr		2739383	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	T	1.900	-0.453427	0.04540	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	3.58	1.43	0.22495	.	2.178760	0.02607	N	0.101685	T	0.05914	0.0154	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34576	-0.9823	10	0.07325	T	0.83	.	4.0654	0.09857	0.0:0.6032:0.2202:0.1766	.	139;154	P55808;P55808-3	XG_HUMAN;.	T	139;154;140;117;1	ENSP00000370566:M139T;ENSP00000411004:M154T;ENSP00000398503:M140T;ENSP00000430005:M117T	ENSP00000370566:M139T	M	+	2	0	XG	2739383	0.000000	0.05858	0.002000	0.10522	0.161000	0.22273	-1.013000	0.03645	-0.027000	0.13873	0.303000	0.19852	ATG		0.438	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569	
MXRA5	25878	hgsc.bcm.edu	37	X	3241453	3241453	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:3241453A>G	ENST00000217939.6	-	5	2427	c.2273T>C	c.(2272-2274)gTt>gCt	p.V758A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	758						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCTTCTGCAACATTGGTCTC	0.433																																																	0			X											112.0	98.0	103.0					X																	3241453		2203	4300	6503	3251453	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2273T>C	X.37:g.3241453A>G	ENSP00000217939:p.Val758Ala		3251453	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	10.79	1.449434	0.26074	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68624	-0.34	3.63	3.63	0.41609	.	0.755193	0.10598	U	0.656033	T	0.56746	0.2006	L	0.29908	0.895	0.09310	N	1	B	0.28082	0.2	B	0.28385	0.089	T	0.52881	-0.8516	10	0.66056	D	0.02	.	11.977	0.53098	1.0:0.0:0.0:0.0	.	758	Q9NR99	MXRA5_HUMAN	A	758	ENSP00000217939:V758A	ENSP00000217939:V758A	V	-	2	0	MXRA5	3251453	0.004000	0.15560	0.001000	0.08648	0.102000	0.19082	1.978000	0.40598	1.174000	0.42811	0.430000	0.28490	GTT		0.433	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	hgsc.bcm.edu	37	X	3241640	3241640	+	Missense_Mutation	SNP	C	C	T	rs143552209	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:3241640C>T	ENST00000217939.6	-	5	2240	c.2086G>A	c.(2086-2088)Gtg>Atg	p.V696M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	696						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCATCCTCCACGATGTCTTCT	0.517																																																	0			X											76.0	72.0	73.0					X																	3241640		2203	4300	6503	3251640	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2086G>A	X.37:g.3241640C>T	ENSP00000217939:p.Val696Met		3251640	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.46	1.355138	0.24512	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64260	-0.09	3.49	-0.208	0.13185	.	0.847121	0.09497	U	0.794126	T	0.36744	0.0978	N	0.08118	0	0.09310	N	1	B	0.26081	0.141	B	0.19666	0.026	T	0.18023	-1.0350	10	0.33141	T	0.24	.	7.1395	0.25548	0.0:0.2197:0.0:0.7803	.	696	Q9NR99	MXRA5_HUMAN	M	696	ENSP00000217939:V696M	ENSP00000217939:V696M	V	-	1	0	MXRA5	3251640	0.000000	0.05858	0.002000	0.10522	0.076000	0.17211	0.114000	0.15520	-0.032000	0.13758	0.529000	0.55759	GTG		0.517	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
GPR64	10149	hgsc.bcm.edu	37	X	19032031	19032031	+	Missense_Mutation	SNP	T	T	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:19032031T>G	ENST00000379869.3	-	16	1035	c.872A>C	c.(871-873)aAt>aCt	p.N291T	GPR64_ENST00000379878.3_Missense_Mutation_p.N275T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T|GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T|GPR64_ENST00000354791.3_Missense_Mutation_p.N275T	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	291					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGAGGGAACATTGTGGGTCAC	0.557																																																	0			X											126.0	121.0	123.0					X																	19032031		2203	4300	6503	18941952	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.872A>C	X.37:g.19032031T>G	ENSP00000369198:p.Asn291Thr		18941952	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	9.418	1.082283	0.20309	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.32272	1.5;1.61;1.61;1.61;1.6;1.65;1.61;1.65;1.65;1.46	5.36	-0.0717	0.13742	.	1.840750	0.02435	N	0.084012	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.22909	0.012;0.001;0.071;0.002;0.002;0.077;0.071;0.071;0.071;0.001;0.025	B;B;B;B;B;B;B;B;B;B;B	0.25614	0.007;0.009;0.062;0.009;0.009;0.062;0.062;0.062;0.062;0.004;0.028	T	0.14643	-1.0465	10	0.09084	T	0.74	.	3.0389	0.06132	0.2477:0.3419:0.0:0.4104	.	261;253;261;267;275;291;269;277;288;291;275	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	T	291;275;275;267;261;291;269;288;277;261	ENSP00000369202:N291T;ENSP00000369207:N275T;ENSP00000346845:N275T;ENSP00000369205:N267T;ENSP00000350152:N261T;ENSP00000369198:N291T;ENSP00000353421:N269T;ENSP00000350680:N288T;ENSP00000349015:N277T;ENSP00000344972:N261T	ENSP00000344972:N261T	N	-	2	0	GPR64	18941952	0.003000	0.15002	0.000000	0.03702	0.035000	0.12851	-0.039000	0.12124	0.066000	0.16515	0.356000	0.21956	AAT		0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
RPS6KA6	27330	hgsc.bcm.edu	37	X	83374910	83374910	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:83374910A>G	ENST00000262752.2	-	9	779	c.772T>C	c.(772-774)Tca>Cca	p.S258P	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S258P	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	258	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> T (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S258T(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACACCATATGACCACCAATCA	0.333																																																	2	Substitution - Missense(2)	lung(2)	X											81.0	71.0	75.0					X																	83374910		2203	4300	6503	83261566	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.772T>C	X.37:g.83374910A>G	ENSP00000262752:p.Ser258Pro		83261566	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018095	0.75275	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.52754	0.65;0.65	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.80374	-0.1409	10	0.87932	D	0	.	14.4766	0.67551	1.0:0.0:0.0:0.0	.	258;258	B7ZL90;Q9UK32	.;KS6A6_HUMAN	P	258	ENSP00000262752:S258P;ENSP00000440830:S258P	ENSP00000262752:S258P	S	-	1	0	RPS6KA6	83261566	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.126000	0.94411	1.798000	0.52647	0.486000	0.48141	TCA		0.333	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
TENM1	10178	hgsc.bcm.edu	37	X	123514421	123514421	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:123514421G>A	ENST00000371130.3	-	31	8206	c.8143C>T	c.(8143-8145)Cac>Tac	p.H2715Y	TENM1_ENST00000422452.2_Missense_Mutation_p.H2722Y|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2715					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCATAAAGTGAATATTATTG	0.398																																																	0			X											98.0	94.0	95.0					X																	123514421		2203	4300	6503	123342102	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8143C>T	X.37:g.123514421G>A	ENSP00000360171:p.His2715Tyr		123342102	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835340	0.71373	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85702	-2.02;-1.99	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91442	0.7299	M	0.61703	1.905	0.80722	D	1	D;D;D	0.63880	0.993;0.985;0.988	D;P;P	0.70227	0.968;0.838;0.841	D	0.91812	0.5460	10	0.66056	D	0.02	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	2721;2722;2715	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	2715;2722	ENSP00000360171:H2715Y;ENSP00000403954:H2722Y	ENSP00000360171:H2715Y	H	-	1	0	ODZ1	123342102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.414000	0.81942	0.538000	0.68166	CAC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	hgsc.bcm.edu	37	X	123517633	123517633	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:123517633C>T	ENST00000371130.3	-	29	7190	c.7127G>A	c.(7126-7128)aGg>aAg	p.R2376K	TENM1_ENST00000422452.2_Missense_Mutation_p.R2383K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2376					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2378K(1)									ATCATAATCCCTTTGCCCCAG	0.418																																																	1	Substitution - Missense(1)	ovary(1)	X											138.0	130.0	132.0					X																	123517633		2203	4300	6503	123345314	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7127G>A	X.37:g.123517633C>T	ENSP00000360171:p.Arg2376Lys		123345314	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043921	0.75732	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.92149	-2.98;-2.94	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.79011	2.435	0.58432	D	0.999997	D;D;B	0.64830	0.982;0.994;0.287	D;D;B	0.70716	0.952;0.97;0.085	D	0.95608	0.8669	10	0.49607	T	0.09	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	2382;2383;2376	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	2376;2383	ENSP00000360171:R2376K;ENSP00000403954:R2383K	ENSP00000360171:R2376K	R	-	2	0	ODZ1	123345314	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.050000	0.71063	2.471000	0.83476	0.600000	0.82982	AGG		0.418	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	hgsc.bcm.edu	37	X	123787615	123787615	+	Missense_Mutation	SNP	G	G	A	rs146613496		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:123787615G>A	ENST00000371130.3	-	7	1250	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	TENM1_ENST00000422452.2_Missense_Mutation_p.A396V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	396					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGTGTCTATCGCCCGTCCCTT	0.383																																																	0			X						G	VAL/ALA,VAL/ALA,VAL/ALA	0,3835		0,0,1632,571	102.0	87.0	92.0		1187,1184,1187	5.6	1.0	X	dbSNP_134	92	1,6727		0,1,2427,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	64,64,64	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	396/2733,395/2732,396/2726	123787615	1,10562	2203	4300	6503	123615296	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1187C>T	X.37:g.123787615G>A	ENSP00000360171:p.Ala396Val		123615296	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042620	0.75732	0.0	1.49E-4	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.26810	1.71;1.71	5.6	5.6	0.85130	.	0.062449	0.64402	D	0.000005	T	0.15132	0.0365	N	0.22421	0.69	0.58432	D	0.999999	P;P;B	0.37688	0.605;0.462;0.339	B;B;B	0.18871	0.019;0.023;0.013	T	0.08889	-1.0700	10	0.15066	T	0.55	.	18.6615	0.91473	0.0:0.0:1.0:0.0	.	395;396;396	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	396	ENSP00000360171:A396V;ENSP00000403954:A396V	ENSP00000360171:A396V	A	-	2	0	ODZ1	123615296	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	4.443000	0.59994	2.351000	0.79841	0.529000	0.55759	GCG		0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
AIFM1	9131	hgsc.bcm.edu	37	X	129271123	129271123	+	Silent	SNP	G	G	T	rs371944474		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:129271123G>T	ENST00000287295.3	-	10	1235	c.1005C>A	c.(1003-1005)ccC>ccA	p.P335P	AIFM1_ENST00000319908.3_Silent_p.P331P|AIFM1_ENST00000460436.2_5'UTR|AIFM1_ENST00000440263.1_5'UTR|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Silent_p.P48P	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	335	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.P331P(1)|p.P335P(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TTCCTTTCTCGGGGAAGAGTT	0.468																																																	2	Substitution - coding silent(2)	ovary(2)	X											161.0	134.0	143.0					X																	129271123		2203	4300	6503	129098804	SO:0001819	synonymous_variant	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1005C>A	X.37:g.129271123G>T			129098804	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	CCDS14618.1																																																																																				0.468	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
GABRE	2564	hgsc.bcm.edu	37	X	151129761	151129761	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:151129761A>G	ENST00000370328.3	-	5	693	c.640T>C	c.(640-642)Tct>Cct	p.S214P	MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.S214P|GABRE_ENST00000393914.3_Intron|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	214					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S101P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	TCACAGCTAGAGAAAGATAGA	0.468																																																	1	Substitution - Missense(1)	ovary(1)	X											119.0	110.0	113.0					X																	151129761		2203	4300	6503	150880417	SO:0001583	missense	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.640T>C	X.37:g.151129761A>G	ENSP00000359353:p.Ser214Pro		150880417	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620304	0.87460	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79940	-1.32;-1.32	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.252575	0.28219	N	0.016154	D	0.86657	0.5985	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85075	0.0942	10	0.31617	T	0.26	.	12.79	0.57528	1.0:0.0:0.0:0.0	.	214	P78334	GBRE_HUMAN	P	214	ENSP00000359353:S214P;ENSP00000359350:S214P	ENSP00000359350:S214P	S	-	1	0	GABRE	150880417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.379000	0.66196	1.928000	0.55862	0.486000	0.48141	TCT		0.468	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
APBB2	323	hgsc.bcm.edu	37	4	40892392	40892392	+	Silent	SNP	G	G	A	rs377258984		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:40892392G>A	ENST00000295974.8	-	12	2144	c.1515C>T	c.(1513-1515)cgC>cgT	p.R505R	APBB2_ENST00000508593.1_Silent_p.R506R|APBB2_ENST00000513140.1_Silent_p.R484R|APBB2_ENST00000506352.1_Silent_p.R484R	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	505	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCCATTGTCGCGGCCCACGC	0.642																																					Ovarian(3;20 75 16686 49997)												0			4						G	,,	0,4278		0,0,2139	40.0	45.0	44.0		1515,1518,1452	1.8	1.0	4		44	1,8525		0,1,4262	no	coding-synonymous,coding-synonymous,coding-synonymous	APBB2	NM_001166050.1,NM_004307.1,NM_173075.4	,,	0,1,6401	AA,AG,GG		0.0117,0.0,0.0078	,,	505/759,506/760,484/737	40892392	1,12803	2139	4263	6402	40587149	SO:0001819	synonymous_variant	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1515C>T	4.37:g.40892392G>A			40587149	B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.46|11.46	1.645098|1.645098	0.29246|0.29246	0.0|0.0	1.17E-4|1.17E-4	ENSG00000163697|ENSG00000163697	ENST00000513493|ENST00000513611	.|.	.|.	.|.	5.98|5.98	1.81|1.81	0.25067|0.25067	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.18130|.	0.0435|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.19192|.	-1.0313|.	4|.	.|0.02654	.|T	.|1	-18.0896|-18.0896	2.4299|2.4299	0.04469|0.04469	0.235:0.0966:0.4436:0.2248|0.235:0.0966:0.4436:0.2248	.|.	.|.	.|.	.|.	V|X	42|475	.|.	.|ENSP00000427307:R475X	A|R	-|-	2|1	0|2	APBB2|APBB2	40587149|40587149	0.161000|0.161000	0.22892|0.22892	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	-0.418000|-0.418000	0.07080|0.07080	0.395000|0.395000	0.25257|0.25257	0.591000|0.591000	0.81541|0.81541	GCG|CGA		0.642	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075	
SLC30A9	10463	hgsc.bcm.edu	37	4	41992692	41992692	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:41992692C>T	ENST00000264451.7	+	1	204	c.24C>T	c.(22-24)gcC>gcT	p.A8A	RP11-814H16.2_ENST00000608029.1_lincRNA	NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	8					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGCCGCCGCCGCGGCCCACA	0.697																																																	0			4											20.0	21.0	20.0					4																	41992692		2183	4274	6457	41687449	SO:0001819	synonymous_variant	10463			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.24C>T	4.37:g.41992692C>T			41687449	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	CCDS3465.1																																																																																				0.697	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
KIT	3815	hgsc.bcm.edu	37	4	55594223	55594223	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:55594223A>G	ENST00000288135.5	+	13	2023	c.1926A>G	c.(1924-1926)aaA>aaG	p.K642K		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGAACTCAAAGTCCTGAGTT	0.438		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4											126.0	115.0	119.0					4																	55594223		2203	4300	6503	55288980	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1926A>G	4.37:g.55594223A>G			55288980	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.438	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIAA0922	23240	hgsc.bcm.edu	37	4	154533465	154533465	+	Silent	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:154533465G>A	ENST00000409663.3	+	26	3529	c.3477G>A	c.(3475-3477)gtG>gtA	p.V1159V	KIAA0922_ENST00000409959.3_Silent_p.V1160V|KIAA0922_ENST00000440693.1_Silent_p.V1076V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1159						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGAAGAAGGTGGACACAAAGC	0.333																																																	0			4											72.0	74.0	73.0					4																	154533465		2203	4299	6502	154752915	SO:0001819	synonymous_variant	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3477G>A	4.37:g.154533465G>A			154752915	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																				0.333	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
C4orf27	54969	hgsc.bcm.edu	37	4	170663135	170663135	+	Silent	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:170663135G>A	ENST00000393381.2	-	5	696	c.621C>T	c.(619-621)acC>acT	p.T207T		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	207						nucleus (GO:0005634)		p.T207T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCATCTTCACGGTTCTCTGTT	0.373																																																	1	Substitution - coding silent(1)	ovary(1)	4											143.0	134.0	137.0					4																	170663135		2203	4300	6503	170899710	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.621C>T	4.37:g.170663135G>A			170899710		Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.373	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867	
ADAM29	11086	hgsc.bcm.edu	37	4	175898913	175898913	+	Missense_Mutation	SNP	C	C	T	rs142711835		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:175898913C>T	ENST00000359240.3	+	5	2907	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	746	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T746M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACGCCTTCCCAG	0.537																																					Ovarian(140;1727 1835 21805 25838 41440)												2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4											149.0	132.0	138.0					4																	175898913		2203	4300	6503	176135488	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2237C>T	4.37:g.175898913C>T	ENSP00000352177:p.Thr746Met		176135488	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866447	0.17250	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	1.54	0.582	0.17412	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.45998	0.5	T	0.53005	-0.8499	8	.	.	.	.	6.1783	0.20457	0.0:0.802:0.0:0.198	.	746	Q9UKF5	ADA29_HUMAN	M	746	ENSP00000352177:T746M;ENSP00000414544:T746M;ENSP00000384229:T746M;ENSP00000423517:T746M	.	T	+	2	0	ADAM29	176135488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.798000	0.04565	-0.059000	0.13154	0.478000	0.44815	ACG		0.537	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
E2F6	1876	hgsc.bcm.edu	37	2	11587813	11587813	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:11587813T>C	ENST00000381525.3	-	6	1008	c.739A>G	c.(739-741)Agg>Ggg	p.R247G	E2F6_ENST00000542100.1_Missense_Mutation_p.R172G|E2F6_ENST00000546212.1_Missense_Mutation_p.R172G|E2F6_ENST00000307236.4_Missense_Mutation_p.R215G|E2F6_ENST00000362009.4_3'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	247	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		CCTTCAGACCTTTTGTTACTG	0.458																																																	0			2											102.0	93.0	96.0					2																	11587813		1880	4105	5985	11505264	SO:0001583	missense	1876			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.739A>G	2.37:g.11587813T>C	ENSP00000370936:p.Arg247Gly		11505264	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	ENST00000381525.3	37	CCDS1680.2	.	.	.	.	.	.	.	.	.	.	T	9.749	1.167010	0.21621	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.88	-7.31	0.01441	.	3.278190	0.00654	N	0.000577	T	0.04048	0.0113	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34925	-0.9809	10	0.48119	T	0.1	17.3777	3.0861	0.06278	0.1853:0.1219:0.0931:0.5996	.	247;215	O75461;G5E936	E2F6_HUMAN;.	G	247;215;172;172	ENSP00000370936:R247G;ENSP00000302159:R215G;ENSP00000446315:R172G;ENSP00000438864:R172G	ENSP00000302159:R215G	R	-	1	2	E2F6	11505264	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.524000	0.06222	-1.305000	0.02327	0.533000	0.62120	AGG		0.458	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952	
SOS1	6654	hgsc.bcm.edu	37	2	39250271	39250271	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:39250271T>C	ENST00000426016.1	-	11	1384	c.1298A>G	c.(1297-1299)gAg>gGg	p.E433G	SOS1_ENST00000402219.2_Missense_Mutation_p.E433G|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E433G			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	433			E -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:21387466}.|Missing (in NS4). {ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTCTTTTCCCTCCCAACCATC	0.393									Noonan syndrome																																								0			2											114.0	102.0	106.0					2																	39250271		2203	4300	6503	39103775	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1298A>G	2.37:g.39250271T>C	ENSP00000387784:p.Glu433Gly		39103775	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179725	0.78564	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.89875	-2.58;-2.58;-2.58	5.52	5.52	0.82312	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	D	0.93523	0.7933	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.67231	0.947;0.95	D	0.94141	0.7397	10	0.72032	D	0.01	.	15.932	0.79668	0.0:0.0:0.0:1.0	.	165;433	F5GX06;Q07889	.;SOS1_HUMAN	G	433;433;165;433;433	ENSP00000387784:E433G;ENSP00000384675:E433G;ENSP00000378479:E433G	ENSP00000263879:E433G	E	-	2	0	SOS1	39103775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.884000	0.87274	2.222000	0.72286	0.455000	0.32223	GAG		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
CCT7	10574	hgsc.bcm.edu	37	2	73475050	73475050	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:73475050T>C	ENST00000258091.5	+	7	920	c.779T>C	c.(778-780)gTt>gCt	p.V260A	CCT7_ENST00000538797.1_Missense_Mutation_p.V132A|CCT7_ENST00000540468.1_Missense_Mutation_p.V173A|CCT7_ENST00000398422.2_Missense_Mutation_p.V56A|CCT7_ENST00000539919.1_Missense_Mutation_p.V216A|CCT7_ENST00000537131.1_Missense_Mutation_p.V160A|CCT7_ENST00000473786.1_3'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	260					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GTCCACACAGTTGAGGTAGGT	0.502																																																	0			2											67.0	64.0	65.0					2																	73475050		1939	4137	6076	73328558	SO:0001583	missense	10574			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.779T>C	2.37:g.73475050T>C	ENSP00000258091:p.Val260Ala		73328558	A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130500	0.77549	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.9	4.9	0.64082	.	0.057965	0.64402	D	0.000001	D	0.82907	0.5139	M	0.63428	1.95	0.80722	D	1	B;B;B;B;B;P	0.41910	0.274;0.038;0.03;0.304;0.091;0.764	B;B;B;P;B;P	0.53490	0.162;0.079;0.029;0.458;0.15;0.727	T	0.83334	-0.0011	10	0.48119	T	0.1	-29.0466	13.7901	0.63135	0.0:0.0:0.0:1.0	.	173;132;160;218;56;260	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	A	173;216;260;56;160;132;218	ENSP00000442058:V173A;ENSP00000437824:V216A;ENSP00000258091:V260A;ENSP00000381456:V56A;ENSP00000444379:V160A;ENSP00000438462:V132A	ENSP00000258091:V260A	V	+	2	0	CCT7	73328558	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	7.843000	0.86859	2.196000	0.70406	0.533000	0.62120	GTT		0.502	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2		
M1AP	130951	hgsc.bcm.edu	37	2	74789458	74789458	+	Silent	SNP	C	C	T	rs186424282	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:74789458C>T	ENST00000290536.5	-	8	1283	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Silent_p.P389P|M1AP_ENST00000536235.1_Silent_p.P389P|M1AP_ENST00000358434.2_Intron	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	389					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGGAGTGTGACGGCATGATCA	0.582													T|||	3	0.000599042	0.0	0.0029	5008	,	,		22185	0.001		0.0	False		,,,				2504	0.0																0			2											226.0	186.0	199.0					2																	74789458		2203	4300	6503	74642966	SO:0001819	synonymous_variant	130951				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1167G>A	2.37:g.74789458C>T			74642966	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	CCDS33229.1																																																																																				0.582	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804	
SFTPB	6439	hgsc.bcm.edu	37	2	85890543	85890543	+	Missense_Mutation	SNP	C	C	T	rs201986026	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:85890543C>T	ENST00000519937.2	-	8	947	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SFTPB_ENST00000342375.3_Missense_Mutation_p.G310R|SFTPB_ENST00000393822.3_Missense_Mutation_p.G322R|SFTPB_ENST00000409383.1_Missense_Mutation_p.G322R			P07988	PSPB_HUMAN	surfactant protein B	310	Saposin B-type 3. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CTGCTGTTCCCGGCCTGGGTG	0.617													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19561	0.0		0.0	False		,,,				2504	0.0																0			2						C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	50.0	48.0	49.0		964,964	-9.5	0.0	2		49	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SFTPB	NM_000542.3,NM_198843.2	125,125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	322/394,322/394	85890543	2,13004	2203	4300	6503	85744054	SO:0001583	missense	6439			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.928G>A	2.37:g.85890543C>T	ENSP00000428719:p.Gly310Arg		85744054	Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.044|0.044	-1.271601|-1.271601	0.01421|0.01421	0.0|0.0	2.33E-4|2.33E-4	ENSG00000168878|ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838|ENST00000428225	D;D;D;D|.	0.84660|.	-1.88;-1.88;-1.88;-1.88|.	5.15|5.15	-9.47|-9.47	0.00594|0.00594	Saposin-like (2);Saposin B (2);|.	1.425570|.	0.04536|.	N|.	0.387230|.	T|T	0.21509|0.21509	0.0518|0.0518	N|N	0.20401|0.20401	0.57|0.57	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.17369|.	T|.	0.5|.	-0.9383|-0.9383	7.5266|7.5266	0.27658|0.27658	0.1987:0.5307:0.0:0.2705|0.1987:0.5307:0.0:0.2705	.|.	322;310|.	D6W5L6;P07988|.	.;PSPB_HUMAN|.	R|Q	312;322;310;322;278|302	ENSP00000428719:G312R;ENSP00000377409:G322R;ENSP00000345161:G310R;ENSP00000386346:G322R|.	ENSP00000345161:G310R|.	G|R	-|-	1|2	0|0	SFTPB|SFTPB	85744054|85744054	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.084000|0.084000	0.17831|0.17831	-1.154000|-1.154000	0.03166|0.03166	-2.249000|-2.249000	0.00702|0.00702	-2.677000|-2.677000	0.00143|0.00143	GGG|CGG		0.617	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843	
MFSD9	84804	hgsc.bcm.edu	37	2	103348857	103348857	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:103348857A>G	ENST00000258436.5	-	2	220	c.177T>C	c.(175-177)ggT>ggC	p.G59G		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	59			G -> A (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CCATGCTGACACCAAACAAAT	0.338																																																	0			2											117.0	110.0	112.0					2																	103348857		2203	4300	6503	102715289	SO:0001819	synonymous_variant	84804				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.177T>C	2.37:g.103348857A>G			102715289	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	CCDS2063.1																																																																																				0.338	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
SH3RF3	344558	hgsc.bcm.edu	37	2	110259191	110259191	+	Silent	SNP	C	C	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:110259191C>G	ENST00000309415.6	+	10	2592	c.2592C>G	c.(2590-2592)acC>acG	p.T864T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	864	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACAAGGGGACCCTGCAGCGGA	0.637																																																	0			2											53.0	55.0	54.0					2																	110259191		2097	4210	6307	109616473	SO:0001819	synonymous_variant	344558			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2592C>G	2.37:g.110259191C>G			109616473	A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37		.	.	.	.	.	.	.	.	.	.	C	9.527	1.109892	0.20714	.	.	ENSG00000172985	ENST00000444352	.	.	.	5.07	-4.88	0.03113	.	.	.	.	.	T	0.36524	0.0970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	4	.	.	.	-39.8473	1.6743	0.02818	0.3357:0.1364:0.3453:0.1826	.	.	.	.	A	38	.	.	P	+	1	0	SH3RF3	109616473	0.019000	0.18553	0.961000	0.40146	0.912000	0.54170	-0.958000	0.03857	-0.499000	0.06623	-0.521000	0.04368	CCT		0.637	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289	
BUB1	699	hgsc.bcm.edu	37	2	111415139	111415139	+	Missense_Mutation	SNP	T	T	C	rs36109304	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:111415139T>C	ENST00000302759.6	-	14	1718	c.1600A>G	c.(1600-1602)Aac>Gac	p.N534D	BUB1_ENST00000409311.1_Missense_Mutation_p.N534D|BUB1_ENST00000535254.1_Missense_Mutation_p.N514D	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	534			N -> D (in dbSNP:rs36109304). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTTCTTTGTTTCCATCTTCA	0.408													T|||	4	0.000798722	0.0	0.0	5008	,	,		16570	0.004		0.0	False		,,,				2504	0.0																0			2											71.0	68.0	69.0					2																	111415139		2203	4300	6503	111131612	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1600A>G	2.37:g.111415139T>C	ENSP00000302530:p.Asn534Asp		111131612	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	T	13.63	2.295291	0.40594	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.30981	2.24;1.51;2.5	5.89	5.89	0.94794	.	0.306470	0.38897	N	0.001522	T	0.20740	0.0499	L	0.54323	1.7	0.36391	D	0.862538	P;B;P	0.42871	0.792;0.366;0.737	B;B;B	0.38264	0.269;0.032;0.138	T	0.22347	-1.0219	10	0.12103	T	0.63	-23.2649	14.2677	0.66129	0.0:0.0:0.0:1.0	rs36109304	514;534;534	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	D	514;534;534;534	ENSP00000441013:N514D;ENSP00000386701:N534D;ENSP00000302530:N534D	ENSP00000302530:N534D	N	-	1	0	BUB1	111131612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.722000	0.47269	2.245000	0.73994	0.455000	0.32223	AAC		0.408	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
ZC3H6	376940	hgsc.bcm.edu	37	2	113089706	113089706	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:113089706T>C	ENST00000409871.1	+	12	3612	c.3211T>C	c.(3211-3213)Tca>Cca	p.S1071P	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1071P|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1071							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGGAGAAAACTCAAAGAACCA	0.433																																																	0			2											45.0	43.0	44.0					2																	113089706		1868	4108	5976	112806177	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3211T>C	2.37:g.113089706T>C	ENSP00000386764:p.Ser1071Pro		112806177	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	T	1.372	-0.585714	0.03827	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.14640	2.49;2.49	5.33	-2.67	0.06059	.	2.194330	0.01585	N	0.021297	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.24533	0.105	B	0.20384	0.029	T	0.25082	-1.0142	10	0.02654	T	1	0.0299	4.6257	0.12477	0.3175:0.0:0.4339:0.2486	.	1071	P61129	ZC3H6_HUMAN	P	1071	ENSP00000386764:S1071P;ENSP00000340298:S1071P	ENSP00000340298:S1071P	S	+	1	0	ZC3H6	112806177	0.619000	0.27059	0.325000	0.25375	0.820000	0.46376	0.785000	0.26830	-1.051000	0.03226	-0.435000	0.05868	TCA		0.433	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
MARCO	8685	hgsc.bcm.edu	37	2	119750754	119750754	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:119750754A>G	ENST00000327097.4	+	16	1442	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	MARCO_ENST00000541757.1_Missense_Mutation_p.E358G	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	436	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCGGGCTGAAGTTTACTAC	0.532																																					GBM(8;18 374 7467 11269 32796)												0			2											152.0	143.0	146.0					2																	119750754		2203	4300	6503	119467224	SO:0001583	missense	8685			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1307A>G	2.37:g.119750754A>G	ENSP00000318916:p.Glu436Gly		119467224	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173692	0.57584	.	.	ENSG00000019169	ENST00000327097;ENST00000541757	T;T	0.49139	0.79;0.79	6.07	6.07	0.98685	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.070848	0.53938	D	0.000044	T	0.81009	0.4734	H	0.98818	4.34	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	D	0.87897	0.2688	9	.	.	.	.	13.0206	0.58784	1.0:0.0:0.0:0.0	.	436	Q9UEW3	MARCO_HUMAN	G	436;358	ENSP00000318916:E436G;ENSP00000441769:E358G	.	E	+	2	0	MARCO	119467224	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.572000	0.74005	2.326000	0.78906	0.533000	0.62120	GAA		0.532	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125521566	125521566	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:125521566A>G	ENST00000431078.1	+	16	2736	c.2372A>G	c.(2371-2373)aAc>aGc	p.N791S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	791	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGCTTCTGGAACGCCGTCTCA	0.418																																																	0			2											124.0	118.0	120.0					2																	125521566		1883	4093	5976	125238036	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2372A>G	2.37:g.125521566A>G	ENSP00000399013:p.Asn791Ser		125238036	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442691	0.83993	.	.	ENSG00000155052	ENST00000431078	T	0.45668	0.89	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.53938	D	0.000049	T	0.71467	0.3343	M	0.91406	3.205	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.78137	-0.2321	10	0.62326	D	0.03	.	15.5035	0.75719	1.0:0.0:0.0:0.0	.	791	Q8WYK1	CNTP5_HUMAN	S	791	ENSP00000399013:N791S	ENSP00000399013:N791S	N	+	2	0	CNTNAP5	125238036	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.205000	0.95048	2.263000	0.75096	0.533000	0.62120	AAC		0.418	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
LCT	3938	hgsc.bcm.edu	37	2	136567004	136567004	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:136567004C>T	ENST00000264162.2	-	8	2923	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	971	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTAGGCCTTCACCTTCAAAG	0.498																																																	0			2											88.0	90.0	89.0					2																	136567004		2203	4300	6503	136283474	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2913G>A	2.37:g.136567004C>T			136283474	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.498	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LRP1B	53353	hgsc.bcm.edu	37	2	141459741	141459741	+	Missense_Mutation	SNP	C	C	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:141459741C>G	ENST00000389484.3	-	39	7242	c.6271G>C	c.(6271-6273)Gtc>Ctc	p.V2091L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2091					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCCCAAAGACTGCAACTGAA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0			2											185.0	157.0	167.0					2																	141459741		2203	4300	6503	141176211	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6271G>C	2.37:g.141459741C>G	ENSP00000374135:p.Val2091Leu		141176211	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269931	0.59540	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.091610	0.44285	U	0.000465	D	0.93061	0.7791	L	0.39147	1.195	0.58432	D	0.999999	D	0.64830	0.994	D	0.72625	0.978	D	0.88237	0.2907	10	0.02654	T	1	.	19.388	0.94565	0.0:1.0:0.0:0.0	.	2091	Q9NZR2	LRP1B_HUMAN	L	2091;2029	ENSP00000374135:V2091L	ENSP00000374135:V2091L	V	-	1	0	LRP1B	141176211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.710000	0.84655	2.586000	0.87340	0.563000	0.77884	GTC		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
SCN2A	6326	hgsc.bcm.edu	37	2	166165282	166165282	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:166165282G>T	ENST00000375437.2	+	5	873	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	SCN2A_ENST00000375427.2_Missense_Mutation_p.D195Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.D195Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.D195Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	195					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATTGGTTGGATTTCACAGT	0.343																																																	0			2											114.0	115.0	114.0					2																	166165282		2200	4299	6499	165873528	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.583G>T	2.37:g.166165282G>T	ENSP00000364586:p.Asp195Tyr		165873528	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606199	0.66445	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83;-5.83	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99825	0.9922	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96671	0.9496	10	0.87932	D	0	.	19.9065	0.97010	0.0:0.0:1.0:0.0	.	195;195	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	195	ENSP00000406454:D195Y;ENSP00000364586:D195Y;ENSP00000349973:D195Y;ENSP00000283256:D195Y;ENSP00000364576:D195Y	ENSP00000283256:D195Y	D	+	1	0	SCN2A	165873528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.938000	0.87678	2.785000	0.95823	0.650000	0.86243	GAT		0.343	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
MYO3B	140469	hgsc.bcm.edu	37	2	171264305	171264305	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:171264305A>G	ENST00000408978.4	+	22	2744	c.2601A>G	c.(2599-2601)tcA>tcG	p.S867S	MYO3B_ENST00000409044.3_Silent_p.S867S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.S876S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	867	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGAGAACGTCAGAAAACAAGC	0.453																																																	0			2											197.0	190.0	192.0					2																	171264305		1921	4131	6052	170972551	SO:0001819	synonymous_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2601A>G	2.37:g.171264305A>G			170972551	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																				0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
EVX2	344191	hgsc.bcm.edu	37	2	176948352	176948352	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:176948352C>T	ENST00000308618.4	-	1	289	c.153G>A	c.(151-153)ccG>ccA	p.P51P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	51					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACGGCAGGCGCGGGCTTAGGC	0.617																																																	0			2											37.0	44.0	42.0					2																	176948352		2203	4300	6503	176656598	SO:0001819	synonymous_variant	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.153G>A	2.37:g.176948352C>T			176656598		Silent	SNP	ENST00000308618.4	37	CCDS33333.1																																																																																				0.617	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1		
TTN	7273	hgsc.bcm.edu	37	2	179437468	179437468	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:179437468C>T	ENST00000591111.1	-	276	68692	c.68468G>A	c.(68467-68469)cGg>cAg	p.R22823Q	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15399Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15591Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15524Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24464Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21896Q			Q8WZ42	TITIN_HUMAN	titin	22823	Ig-like 117.		R -> W (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCATGGTCCCGGGCCCACTT	0.468																																																	0			2											80.0	82.0	81.0					2																	179437468		1909	4108	6017	179145714	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68468G>A	2.37:g.179437468C>T	ENSP00000465570:p.Arg22823Gln		179145714	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.87	2.665630	0.47677	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.9	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65026	0.2652	M	0.80847	2.515	0.50632	D	0.999885	D;D;D;D	0.69078	0.997;0.997;0.997;0.994	P;P;P;P	0.55545	0.778;0.778;0.778;0.704	T	0.72050	-0.4407	9	0.87932	D	0	.	15.4432	0.75204	0.0:0.9328:0.0:0.0672	.	15399;15524;15591;22823	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	21896;15399;15591;15524;15397	ENSP00000343764:R21896Q;ENSP00000434586:R15399Q;ENSP00000340554:R15591Q;ENSP00000352154:R15524Q	ENSP00000340554:R15591Q	R	-	2	0	TTN	179145714	1.000000	0.71417	0.936000	0.37596	0.958000	0.62258	6.008000	0.70739	1.484000	0.48361	0.650000	0.86243	CGG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179437533	179437533	+	Silent	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:179437533G>A	ENST00000591111.1	-	276	68627	c.68403C>T	c.(68401-68403)gcC>gcT	p.A22801A	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.A15377A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A15569A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A15502A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A24442A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.A21874A			Q8WZ42	TITIN_HUMAN	titin	22801	Ig-like 117.		A -> T (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGCAGCAGGCCCTTATAG	0.507																																																	0			2											94.0	97.0	96.0					2																	179437533		1955	4139	6094	179145779	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68403C>T	2.37:g.179437533G>A			179145779	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37																																																																																					0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
GTF3C3	9330	hgsc.bcm.edu	37	2	197639859	197639859	+	Silent	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:197639859T>C	ENST00000263956.3	-	13	1901	c.1812A>G	c.(1810-1812)tcA>tcG	p.S604S		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	604					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACAATTTGCTGACTCTTGGT	0.348																																																	0			2											123.0	112.0	116.0					2																	197639859		2203	4300	6503	197348104	SO:0001819	synonymous_variant	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1812A>G	2.37:g.197639859T>C			197348104	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	CCDS2316.1																																																																																				0.348	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
STK36	27148	hgsc.bcm.edu	37	2	219563892	219563892	+	Missense_Mutation	SNP	C	C	T	rs142956585		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:219563892C>T	ENST00000295709.3	+	26	3904	c.3625C>T	c.(3625-3627)Cgg>Tgg	p.R1209W	STK36_ENST00000392106.2_Missense_Mutation_p.R1188W|STK36_ENST00000440309.1_Missense_Mutation_p.R1209W|STK36_ENST00000392105.3_Missense_Mutation_p.R1188W	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.R1209W(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGCTGGTATCCGGCGCAATGT	0.592																																																	1	Substitution - Missense(1)	lung(1)	2						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	46.0	47.0		3625	5.0	1.0	2	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	STK36	NM_015690.4	101	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	1209/1316	219563892	3,13003	2203	4300	6503	219272136	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3625C>T	2.37:g.219563892C>T	ENSP00000295709:p.Arg1209Trp		219272136		Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978917	0.74360	2.27E-4	2.33E-4	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.91	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.41194	D	0.000938	T	0.61800	0.2376	M	0.85041	2.73	0.51012	D	0.999903	P;D;D	0.89917	0.952;1.0;1.0	P;D;D	0.91635	0.563;0.999;0.999	T	0.66101	-0.6007	10	0.87932	D	0	-23.2499	11.0941	0.48134	0.0:0.8618:0.0:0.1382	.	1188;1188;1209	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	W	1209;1188;1188;1209	ENSP00000295709:R1209W;ENSP00000375955:R1188W;ENSP00000375954:R1188W;ENSP00000394095:R1209W	ENSP00000295709:R1209W	R	+	1	2	STK36	219272136	0.998000	0.40836	1.000000	0.80357	0.961000	0.63080	1.310000	0.33551	2.793000	0.96121	0.655000	0.94253	CGG		0.592	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2		
NCL	4691	hgsc.bcm.edu	37	2	232320319	232320319	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:232320319A>G	ENST00000322723.4	-	13	2089	c.1849T>C	c.(1849-1851)Ttc>Ctc	p.F617L	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	617	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TCACTGTTGAAGTCTACAAAA	0.453																																																	0			2											148.0	158.0	155.0					2																	232320319		2203	4300	6503	232028563	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1849T>C	2.37:g.232320319A>G	ENSP00000318195:p.Phe617Leu		232028563	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.278048	0.80692	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;D	0.86164	-2.08;-2.08	5.91	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043558	0.85682	N	0.000000	D	0.92087	0.7492	M	0.83953	2.67	0.58432	D	0.999999	P	0.45569	0.861	P	0.57502	0.822	D	0.92196	0.5764	10	0.87932	D	0	-8.7321	11.0211	0.47718	0.9277:0.0:0.0723:0.0	.	617	P19338	NUCL_HUMAN	L	617;509;389;242	ENSP00000318195:F617L;ENSP00000349410:F242L	ENSP00000318195:F617L	F	-	1	0	NCL	232028563	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	8.755000	0.91646	1.078000	0.41014	0.524000	0.50904	TTC		0.453	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
MPDZ	8777	hgsc.bcm.edu	37	9	13205997	13205997	+	Missense_Mutation	SNP	C	C	A	rs560846483		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr9:13205997C>A	ENST00000319217.7	-	11	1639	c.1392G>T	c.(1390-1392)atG>atT	p.M464I	MPDZ_ENST00000541718.1_Missense_Mutation_p.M464I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M464I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M464I|MPDZ_ENST00000536827.1_Missense_Mutation_p.M464I|MPDZ_ENST00000447879.1_Missense_Mutation_p.M464I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M464I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	464					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTTCCTGCTTCATTCCTCTCC	0.433																																																	0			9											181.0	172.0	175.0					9																	13205997		1941	4140	6081	13195997	SO:0001583	missense	84708			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1392G>T	9.37:g.13205997C>A	ENSP00000320006:p.Met464Ile		13195997	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	7.623	0.677144	0.14841	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	6.17	-10.8	0.00216	.	1.641340	0.03802	N	0.264705	T	0.12475	0.0303	N	0.08118	0	0.53688	D	0.999977	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.12451	-1.0547	10	0.17832	T	0.49	.	2.9272	0.05788	0.179:0.1114:0.2181:0.4916	.	464;464;464	B7ZMI4;O75970-3;O75970-2	.;.;.	I	464	ENSP00000320006:M464I;ENSP00000439807:M464I;ENSP00000370410:M464I;ENSP00000444151:M464I;ENSP00000415208:M464I;ENSP00000370403:M464I;ENSP00000446358:M464I	ENSP00000320006:M464I	M	-	3	0	MPDZ	13195997	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.836000	0.00740	-1.826000	0.01205	-0.793000	0.03317	ATG		0.433	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
TAF1L	138474	hgsc.bcm.edu	37	9	32632339	32632339	+	Missense_Mutation	SNP	C	C	T	rs201241616		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr9:32632339C>T	ENST00000242310.4	-	1	3328	c.3239G>A	c.(3238-3240)cGt>cAt	p.R1080H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1080					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1080H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTTTGTAACGCTCTTGATG	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		23067	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)	9						T	HIS/ARG	0,4406		0,0,2203	178.0	167.0	171.0		3239	-0.9	1.0	9	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TAF1L	NM_153809.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1080/1827	32632339	1,13005	2203	4300	6503	32622339	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3239G>A	9.37:g.32632339C>T	ENSP00000418379:p.Arg1080His		32622339	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.167696	0.38315	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.18174	2.23	0.479	-0.924	0.10462	.	0.047970	0.85682	D	0.000000	T	0.13286	0.0322	L	0.55481	1.735	0.51767	D	0.999931	B	0.18741	0.03	B	0.14578	0.011	T	0.05920	-1.0856	10	0.66056	D	0.02	.	4.8372	0.13471	0.0:0.7251:0.0:0.2749	.	1080	Q8IZX4	TAF1L_HUMAN	H	1080	ENSP00000418379:R1080H	ENSP00000418379:R1080H	R	-	2	0	TAF1L	32622339	0.998000	0.40836	0.981000	0.43875	0.686000	0.39977	2.492000	0.45311	-0.377000	0.07930	-1.051000	0.02340	CGT		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
PAX5	5079	hgsc.bcm.edu	37	9	36846903	36846903	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr9:36846903A>G	ENST00000358127.4	-	9	1110	c.1036T>C	c.(1036-1038)Tac>Cac	p.Y346H	PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.Y303H|PAX5_ENST00000522003.1_Missense_Mutation_p.Y238H|PAX5_ENST00000377852.2_Missense_Mutation_p.Y312H|PAX5_ENST00000523241.1_Silent_p.P268P|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.Y246H	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	346					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGTGGCTGTAGGGACTCCCG	0.602			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																			Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	11	Unknown(11)	haematopoietic_and_lymphoid_tissue(11)	9											68.0	65.0	66.0					9																	36846903		2203	4300	6503	36836903	SO:0001583	missense	5079				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1036T>C	9.37:g.36846903A>G	ENSP00000350844:p.Tyr346His		36836903	A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369685	0.82573	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377852;ENST00000446742;ENST00000522003;ENST00000414447;ENST00000524340	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.52	5.52	0.82312	.	0.201442	0.43747	D	0.000540	T	0.66127	0.2758	M	0.73217	2.22	0.80722	D	1	B;D;D;D;D	0.76494	0.151;0.999;0.999;0.997;0.997	B;D;D;D;D	0.87578	0.066;0.996;0.998;0.992;0.992	T	0.63756	-0.6565	10	0.25751	T	0.34	.	14.6275	0.68632	1.0:0.0:0.0:0.0	.	303;246;173;312;346	C0KTF7;C0KTF9;C0KTE2;Q6S731;Q02548	.;.;.;.;PAX5_HUMAN	H	346;257;312;246;238;303;173	ENSP00000350844:Y346H;ENSP00000367083:Y312H;ENSP00000404687:Y246H;ENSP00000429359:Y238H;ENSP00000412188:Y303H;ENSP00000429404:Y173H	ENSP00000350844:Y346H	Y	-	1	0	PAX5	36836903	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.732000	0.84908	2.091000	0.63221	0.459000	0.35465	TAC		0.602	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
OR13C8	138802	hgsc.bcm.edu	37	9	107332185	107332185	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr9:107332185C>T	ENST00000335040.1	+	1	737	c.737C>T	c.(736-738)aCa>aTa	p.T246I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCCCACCTGACAGTGGTGATT	0.428																																																	0			9											122.0	113.0	116.0					9																	107332185		2203	4300	6503	106372006	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.737C>T	9.37:g.107332185C>T	ENSP00000334068:p.Thr246Ile		106372006	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646723	0.29246	.	.	ENSG00000186943	ENST00000335040	T	0.36157	1.27	4.9	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.36744	0.0978	M	0.64260	1.97	0.09310	N	1	B	0.29590	0.25	B	0.37346	0.247	T	0.25710	-1.0124	10	0.33141	T	0.24	.	7.6298	0.28232	0.0:0.8115:0.0:0.1885	.	246	Q8NGS7	O13C8_HUMAN	I	246	ENSP00000334068:T246I	ENSP00000334068:T246I	T	+	2	0	OR13C8	106372006	0.000000	0.05858	0.989000	0.46669	0.994000	0.84299	0.421000	0.21280	1.421000	0.47157	0.561000	0.74099	ACA		0.428	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
NUP188	23511	hgsc.bcm.edu	37	9	131745577	131745577	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr9:131745577C>T	ENST00000372577.2	+	18	1823	c.1802C>T	c.(1801-1803)aCg>aTg	p.T601M		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	601					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCAGGTTAACGACAGTGATC	0.453																																																	0			9											194.0	183.0	186.0					9																	131745577		2203	4300	6503	130785398	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1802C>T	9.37:g.131745577C>T	ENSP00000361658:p.Thr601Met		130785398	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778464	0.70107	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.64991	-0.13	5.43	5.43	0.79202	.	0.046875	0.85682	D	0.000000	T	0.66906	0.2837	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69939	-0.5009	10	0.46703	T	0.11	-6.0591	18.5867	0.91192	0.0:1.0:0.0:0.0	.	601	Q5SRE5	NU188_HUMAN	M	490;601	ENSP00000361658:T601M	ENSP00000349125:T490M	T	+	2	0	NUP188	130785398	1.000000	0.71417	0.947000	0.38551	0.752000	0.42762	7.256000	0.78350	2.708000	0.92522	0.563000	0.77884	ACG		0.453	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
FLT3	2322	hgsc.bcm.edu	37	13	28592645	28592645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr13:28592645G>A	ENST00000241453.7	-	20	2581	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Nonsense_Mutation_p.R834*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATATCTCGAGCCAATCCA	0.453			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	13											189.0	142.0	158.0					13																	28592645		2203	4300	6503	27490645	SO:0001587	stop_gained	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2500C>T	13.37:g.28592645G>A	ENSP00000241453:p.Arg834*		27490645	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	40	8.517642	0.98845	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	.	.	.	5.84	4.92	0.64577	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5869	0.50923	0.0:0.0:0.6168:0.3832	.	.	.	.	X	834	.	ENSP00000241453:R834X	R	-	1	2	FLT3	27490645	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.082000	0.41605	2.792000	0.96026	0.556000	0.70494	CGA		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
RGCC	28984	hgsc.bcm.edu	37	13	42032565	42032565	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr13:42032565G>A	ENST00000379359.3	+	2	343	c.194G>A	c.(193-195)aGc>aAc	p.S65N		NM_014059.2	NP_054778.2	Q9H4X1	RGCC_HUMAN	regulator of cell cycle	65	Ser/Thr-rich.				cellular response to hypoxia (GO:0071456)|complement activation (GO:0006956)|fibroblast activation (GO:0072537)|mitotic cell cycle arrest (GO:0071850)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of exit from mitosis (GO:0001100)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mitotic cell cycle phase transition (GO:1901991)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of mitosis (GO:0045840)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stress fiber assembly (GO:0051496)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)										CGGCGCAGCAGCGCCAGTGTC	0.682																																																	0			13											8.0	9.0	9.0					13																	42032565		1907	4107	6014	40930565	SO:0001583	missense	28984			AF036549	CCDS41880.1	13q14.11	2012-02-20	2012-02-20	2012-02-20	ENSG00000102760	ENSG00000102760			20369	protein-coding gene	gene with protein product	"""response gene to complement 32"""	610077	"""chromosome 13 open reading frame 15"""	C13orf15		17146433, 19158077, 19652095	Standard	NM_014059		Approved	bA157L14.2, RGC-32, RGC32	uc001uyi.2	Q9H4X1	OTTHUMG00000016796	ENST00000379359.3:c.194G>A	13.37:g.42032565G>A	ENSP00000368664:p.Ser65Asn		40930565	Q6NZ48|Q9UL69	Missense_Mutation	SNP	ENST00000379359.3	37	CCDS41880.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251360	0.95305	.	.	ENSG00000102760	ENST00000379359	.	.	.	5.32	5.32	0.75619	.	0.042149	0.85682	D	0.000000	T	0.73458	0.3589	M	0.69823	2.125	0.46028	D	0.998829	D	0.55605	0.972	P	0.56398	0.797	T	0.76162	-0.3060	9	0.59425	D	0.04	-25.1517	14.5723	0.68220	0.0:0.1461:0.8539:0.0	.	65	Q9H4X1	RGC32_HUMAN	N	65	.	ENSP00000368664:S65N	S	+	2	0	C13orf15	40930565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.643000	0.74334	2.473000	0.83533	0.561000	0.74099	AGC		0.682	RGCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044684.1	NM_014059	
CUBN	8029	hgsc.bcm.edu	37	10	17153023	17153023	+	Missense_Mutation	SNP	C	C	T	rs78201384	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr10:17153023C>T	ENST00000377833.4	-	9	975	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	304	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E304K(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGATATCTTCGCAAATATAT	0.438													C|||	46	0.0091853	0.0	0.0058	5008	,	,		17195	0.0327		0.0	False		,,,				2504	0.0092																1	Substitution - Missense(1)	urinary_tract(1)	10						C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	100.0	97.0	98.0		910	-4.2	0.0	10	dbSNP_131	98	0,8600		0,0,4300	yes	missense	CUBN	NM_001081.3	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	304/3624	17153023	3,13003	2203	4300	6503	17193029	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.910G>A	10.37:g.17153023C>T	ENSP00000367064:p.Glu304Lys		17193029	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	18	0.008241758241758242	0	0.0	2	0.0055248618784530384	16	0.027972027972027972	0	0.0	C	13.79	2.342338	0.41498	6.81E-4	0.0	ENSG00000107611	ENST00000377833	D	0.95622	-3.76	5.83	-4.25	0.03766	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.882805	0.09536	N	0.788951	D	0.84451	0.5475	L	0.45744	1.44	0.80722	D	1	B	0.33120	0.398	B	0.22152	0.038	T	0.73260	-0.4039	10	0.29301	T	0.29	.	26.5331	0.99996	0.0:0.7354:0.2646:0.0	.	304	O60494	CUBN_HUMAN	K	304	ENSP00000367064:E304K	ENSP00000367064:E304K	E	-	1	0	CUBN	17193029	0.551000	0.26497	0.028000	0.17463	0.584000	0.36387	0.706000	0.25690	-0.507000	0.06549	0.650000	0.86243	GAA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
FAM35A	54537	hgsc.bcm.edu	37	10	88911655	88911655	+	Missense_Mutation	SNP	T	T	C	rs148112938		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr10:88911655T>C	ENST00000298784.1	+	3	658	c.544T>C	c.(544-546)Tgt>Cgt	p.C182R	FAM35A_ENST00000298786.4_Missense_Mutation_p.C182R|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	182										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GGATTTGGTTTGTAGTACTGA	0.363																																					Ovarian(175;703 2004 25460 32514 43441)												0			10						T	ARG/CYS	0,3982		0,0,1991	23.0	25.0	25.0		544	3.1	0.0	10	dbSNP_134	25	1,7881		0,1,3940	no	missense	FAM35A	NM_019054.2	180	0,1,5931	CC,CT,TT		0.0127,0.0,0.0084	benign	182/836	88911655	1,11863	1991	3941	5932	88901635	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.544T>C	10.37:g.88911655T>C	ENSP00000298784:p.Cys182Arg		88901635	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	t	13.94	2.388321	0.42308	0.0	1.27E-4	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.24538	1.85;1.85;1.85	4.23	3.07	0.35406	.	0.510762	0.16503	N	0.211575	T	0.25005	0.0607	L	0.50333	1.59	0.09310	N	0.999991	P	0.39157	0.662	B	0.42422	0.387	T	0.13602	-1.0503	10	0.56958	D	0.05	-0.1512	5.3425	0.15990	0.0:0.0975:0.3939:0.5086	.	182	Q86V20	FA35A_HUMAN	R	182	ENSP00000298786:C182R;ENSP00000298784:C182R;ENSP00000351064:C182R	ENSP00000298784:C182R	C	+	1	0	FAM35A	88901635	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	0.401000	0.20948	0.652000	0.30806	0.438000	0.28831	TGT		0.363	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
PTEN	5728	hgsc.bcm.edu	37	10	89624302	89624302	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr10:89624302A>G	ENST00000371953.3	+	1	1433	c.76A>G	c.(76-78)Acc>Gcc	p.T26A	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	26	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.T26P(2)|p.L25fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTAGACTTGACCTGTATCCA	0.458		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(2)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|endometrium(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											159.0	152.0	154.0					10																	89624302		2203	4300	6503	89614282	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.76A>G	10.37:g.89624302A>G	ENSP00000361021:p.Thr26Ala		89614282	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442635	0.63067	.	.	ENSG00000171862	ENST00000371953	D	0.98617	-5.03	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.054781	0.64402	D	0.000001	D	0.97417	0.9155	M	0.72479	2.2	0.80722	D	1	B	0.20368	0.044	B	0.18561	0.022	D	0.96696	0.9514	9	.	.	.	-0.0938	14.1807	0.65572	1.0:0.0:0.0:0.0	.	26	P60484	PTEN_HUMAN	A	26	ENSP00000361021:T26A	.	T	+	1	0	PTEN	89614282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.379000	0.90146	1.996000	0.58369	0.459000	0.35465	ACC		0.458	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89725211	89725211	+	Silent	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr10:89725211A>G	ENST00000371953.3	+	9	2551	c.1194A>G	c.(1192-1194)acA>acG	p.T398T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	398					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCAGCATACACAAATTACAA	0.313		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	47	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											16.0	17.0	16.0					10																	89725211		2161	4272	6433	89715191	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1194A>G	10.37:g.89725211A>G			89715191	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
POLL	27343	hgsc.bcm.edu	37	10	103345880	103345880	+	Missense_Mutation	SNP	C	C	T	rs548269958	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr10:103345880C>T	ENST00000370162.3	-	3	643	c.149G>A	c.(148-150)cGc>cAc	p.R50H	POLL_ENST00000436284.2_5'UTR|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370172.1_5'UTR|DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000299206.4_Missense_Mutation_p.R50H|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.R50H|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	50	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AATGCCAGTGCGCACAACATG	0.547								DNA polymerases (catalytic subunits)					C|||	2	0.000399361	0.0	0.0	5008	,	,		18635	0.0		0.0	False		,,,				2504	0.002																0			10											37.0	36.0	37.0					10																	103345880		2203	4300	6503	103335870	SO:0001583	missense	27343			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.149G>A	10.37:g.103345880C>T	ENSP00000359181:p.Arg50His		103335870	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	ENST00000370162.3	37	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032181	0.54790	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T	0.79554	2.76;2.76;2.76;2.28;1.54;0.96;-1.28	5.59	4.68	0.58851	BRCT (2);	0.107348	0.64402	D	0.000004	T	0.56292	0.1975	N	0.08118	0	0.80722	D	1	B;P	0.40000	0.015;0.698	B;B	0.28638	0.002;0.092	T	0.59440	-0.7454	10	0.37606	T	0.19	-24.8613	9.0845	0.36572	0.0:0.1231:0.6056:0.2712	.	50;50	Q9UGP5;A8K860	DPOLL_HUMAN;.	H	50;50;50;50;50;50;61;50;50	ENSP00000299206:R50H;ENSP00000359188:R50H;ENSP00000359181:R50H;ENSP00000400676:R50H;ENSP00000411678:R61H;ENSP00000400517:R50H;ENSP00000414293:R50H	ENSP00000299206:R50H	R	-	2	0	POLL	103335870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.794000	0.47853	1.373000	0.46208	-0.311000	0.09066	CGC		0.547	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274	
FGFR2	2263	hgsc.bcm.edu	37	10	123258041	123258041	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr10:123258041A>G	ENST00000358487.5	-	12	1912	c.1640T>C	c.(1639-1641)aTc>aCc	p.I547T	FGFR2_ENST00000356226.4_Missense_Mutation_p.I430T|FGFR2_ENST00000369061.4_Missense_Mutation_p.I435T|FGFR2_ENST00000478859.1_Missense_Mutation_p.I319T|FGFR2_ENST00000346997.2_Missense_Mutation_p.I545T|FGFR2_ENST00000457416.2_Missense_Mutation_p.I548T|FGFR2_ENST00000369060.4_Missense_Mutation_p.I431T|FGFR2_ENST00000360144.3_Missense_Mutation_p.I459T|FGFR2_ENST00000351936.6_Missense_Mutation_p.I545T|FGFR2_ENST00000369056.1_Missense_Mutation_p.I548T|FGFR2_ENST00000369059.1_Missense_Mutation_p.I433T|FGFR2_ENST00000357555.5_Missense_Mutation_p.I458T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	AAGATTTATGATATTCTTGTG	0.408		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			10											171.0	153.0	159.0					10																	123258041		2203	4300	6503	123248031	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1640T>C	10.37:g.123258041A>G	ENSP00000351276:p.Ile547Thr		123248031	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361038	0.82353	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.996;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.996;0.996;1.0;0.967;0.998;0.995;0.996;0.992	D	0.98720	1.0708	10	0.87932	D	0	.	14.7307	0.69379	1.0:0.0:0.0:0.0	.	564;546;458;430;547;459;548;450	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	T	458;548;435;547;430;431;433;139;545;548;545;459;548;548;456	ENSP00000350166:I458T;ENSP00000358057:I435T;ENSP00000351276:I547T;ENSP00000348559:I430T;ENSP00000358056:I431T;ENSP00000358055:I433T;ENSP00000404219:I139T;ENSP00000263451:I545T;ENSP00000410294:I548T;ENSP00000309878:I545T;ENSP00000353262:I459T;ENSP00000358052:I548T;ENSP00000358054:I548T;ENSP00000337665:I456T	ENSP00000337665:I456T	I	-	2	0	FGFR2	123248031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.273000	0.95719	1.883000	0.54544	0.482000	0.46254	ATC		0.408	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33534957	33534957	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:33534957C>A	ENST00000504830.1	-	23	4922	c.4587G>T	c.(4585-4587)caG>caT	p.Q1529H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1444H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1529	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTGCAGGCCTGCTGGTTGC	0.453										HNSCC(64;0.19)																																							0			5											138.0	132.0	134.0					5																	33534957		2203	4300	6503	33570714	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4587G>T	5.37:g.33534957C>A	ENSP00000422554:p.Gln1529His		33570714	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194399	0.58017	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.55052	0.54;0.54	5.13	0.915	0.19366	.	0.253016	0.39834	N	0.001251	T	0.60392	0.2265	M	0.62088	1.915	0.80722	D	1	D;D	0.59767	0.983;0.986	P;P	0.62649	0.847;0.905	T	0.56195	-0.8019	10	0.44086	T	0.13	.	7.3731	0.26813	0.0:0.5161:0.0:0.4839	.	1444;1529	P58397-3;P58397	.;ATS12_HUMAN	H	1529;1444	ENSP00000422554:Q1529H;ENSP00000344847:Q1444H	ENSP00000344847:Q1444H	Q	-	3	2	ADAMTS12	33570714	0.998000	0.40836	0.998000	0.56505	0.951000	0.60555	0.230000	0.17852	0.184000	0.20083	0.563000	0.77884	CAG		0.453	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
SKIV2L2	23517	hgsc.bcm.edu	37	5	54693248	54693248	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:54693248T>C	ENST00000230640.5	+	20	2440	c.2186T>C	c.(2185-2187)gTc>gCc	p.V729A	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.V628A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	729					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCATAGGTTGTCCCAGTTTTG	0.383																																					Melanoma(2;92 134 23744 29976 33782)												0			5											154.0	145.0	148.0					5																	54693248		2203	4300	6503	54729005	SO:0001583	missense	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2186T>C	5.37:g.54693248T>C	ENSP00000230640:p.Val729Ala		54729005	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824980	0.90955	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.35973	1.28;1.33	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.93898	3.47	0.80722	D	1	P;D	0.76494	0.95;0.999	P;D	0.68621	0.641;0.959	T	0.78170	-0.2308	10	0.66056	D	0.02	-18.3469	15.5101	0.75772	0.0:0.0:0.0:1.0	.	628;729	F5H7E2;P42285	.;SK2L2_HUMAN	A	729;628	ENSP00000230640:V729A;ENSP00000442583:V628A	ENSP00000230640:V729A	V	+	2	0	SKIV2L2	54729005	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.562000	0.82300	2.131000	0.65755	0.533000	0.62120	GTC		0.383	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
ERBB2IP	55914	hgsc.bcm.edu	37	5	65288660	65288660	+	Silent	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:65288660G>A	ENST00000284037.5	+	3	503	c.114G>A	c.(112-114)ccG>ccA	p.P38P	ERBB2IP_ENST00000506030.1_Silent_p.P38P|ERBB2IP_ENST00000508515.1_Silent_p.P38P|ERBB2IP_ENST00000380943.2_Silent_p.P38P|ERBB2IP_ENST00000380939.2_Silent_p.P38P|ERBB2IP_ENST00000380935.1_Silent_p.P38P|ERBB2IP_ENST00000380938.2_Silent_p.P38P|ERBB2IP_ENST00000511297.1_Silent_p.P38P|ERBB2IP_ENST00000380936.1_Silent_p.P38P|ERBB2IP_ENST00000416865.2_Silent_p.P38P	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	38					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AACAAGTTCCGAAAGAGATTT	0.388																																																	0			5											80.0	80.0	80.0					5																	65288660		2203	4300	6503	65324416	SO:0001819	synonymous_variant	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.114G>A	5.37:g.65288660G>A			65324416	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	CCDS58953.1																																																																																				0.388	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
EDIL3	10085	hgsc.bcm.edu	37	5	83433096	83433096	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:83433096C>T	ENST00000296591.5	-	5	850	c.432G>A	c.(430-432)gaG>gaA	p.E144E	EDIL3_ENST00000380138.3_Silent_p.E134E	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	144	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CGCCTGGGCACTCACAGGAAT	0.393																																																	0			5											188.0	164.0	172.0					5																	83433096		2203	4300	6503	83468852	SO:0001819	synonymous_variant	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.432G>A	5.37:g.83433096C>T			83468852	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	CCDS4062.1																																																																																				0.393	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711	
APC	324	hgsc.bcm.edu	37	5	112175217	112175217	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:112175217A>G	ENST00000457016.1	+	16	4306	c.3926A>G	c.(3925-3927)gAa>gGa	p.E1309G	APC_ENST00000508376.2_Missense_Mutation_p.E1309G|APC_ENST00000257430.4_Missense_Mutation_p.E1309G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1309	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.			E -> G (in Ref. 1; AAA60353/AAA60354). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1309fs*4(22)|p.I1311fs*4(2)|p.K1310fs*4(2)|p.?(1)|p.E1309fs*6(1)|p.K1192fs*3(1)|p.K1308fs*4(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)		GAAATAAAAGAAAAGATTGGA	0.423		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"""	30	Deletion - Frameshift(26)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(28)|soft_tissue(1)|skin(1)	5	GRCh37	CD995194|CM973705	APC	D|M							53.0	55.0	55.0					5																	112175217		2202	4300	6502	112203116	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.3926A>G	5.37:g.112175217A>G	ENSP00000413133:p.Glu1309Gly		112203116	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	8.395	0.840561	0.16891	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90676	-2.71;-2.71;-2.71	6.03	6.03	0.97812	.	0.365794	0.32503	N	0.006002	D	0.85301	0.5665	L	0.29908	0.895	0.31972	N	0.607027	B;B	0.12630	0.0;0.006	B;B	0.11329	0.0;0.006	T	0.81185	-0.1048	9	.	.	.	-11.1954	16.2316	0.82347	1.0:0.0:0.0:0.0	.	1311;1309	Q4LE70;P25054	.;APC_HUMAN	G	1309	ENSP00000413133:E1309G;ENSP00000257430:E1309G;ENSP00000427089:E1309G	.	E	+	2	0	APC	112203116	1.000000	0.71417	0.946000	0.38457	0.365000	0.29674	8.900000	0.92551	2.308000	0.77769	0.533000	0.62120	GAA		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175721	112175721	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:112175721A>G	ENST00000457016.1	+	16	4810	c.4430A>G	c.(4429-4431)cAg>cGg	p.Q1477R	APC_ENST00000508376.2_Missense_Mutation_p.Q1477R|APC_ENST00000257430.4_Missense_Mutation_p.Q1477R|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1477	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1454fs*3(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCTGCAGTTCAGAGGGTCCAG	0.448		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"""	3	Unknown(1)|Complex - frameshift(1)|Deletion - Frameshift(1)	thyroid(1)|soft_tissue(1)|skin(1)	5											74.0	73.0	74.0					5																	112175721		2202	4300	6502	112203620	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.4430A>G	5.37:g.112175721A>G	ENSP00000413133:p.Gln1477Arg		112203620	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816728	0.50633	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89270	-2.49;-2.49;-2.49	6.16	6.16	0.99307	.	0.058617	0.64402	D	0.000002	D	0.92090	0.7493	L	0.47716	1.5	0.58432	D	0.999995	D;D	0.60160	0.987;0.967	D;D	0.67725	0.953;0.932	D	0.91230	0.5013	9	.	.	.	-8.5287	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1479;1477	Q4LE70;P25054	.;APC_HUMAN	R	1477	ENSP00000413133:Q1477R;ENSP00000257430:Q1477R;ENSP00000427089:Q1477R	.	Q	+	2	0	APC	112203620	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.349000	0.52217	2.367000	0.80283	0.528000	0.53228	CAG		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
FBN2	2201	hgsc.bcm.edu	37	5	127710340	127710340	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:127710340C>T	ENST00000508053.1	-	21	3050	c.2076G>A	c.(2074-2076)atG>atA	p.M692I	FBN2_ENST00000262464.4_Missense_Mutation_p.M692I|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.M659I			P35556	FBN2_HUMAN	fibrillin 2	692	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACGTCCATCCATGCCCACAG	0.478																																																	0			5											113.0	101.0	105.0					5																	127710340		2203	4300	6503	127738239	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2076G>A	5.37:g.127710340C>T	ENSP00000424571:p.Met692Ile		127738239	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707512	0.30322	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91894	-2.93;-2.93;-2.93	4.45	-0.684	0.11331	Matrix fibril-associated (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.189541	0.34362	N	0.004032	T	0.74809	0.3765	N	0.04959	-0.14	0.30737	N	0.746545	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.62105	-0.6924	10	0.14656	T	0.56	.	2.702	0.05152	0.3946:0.3574:0.1017:0.1463	.	659;692	D6RJI3;P35556	.;FBN2_HUMAN	I	692;692;659	ENSP00000262464:M692I;ENSP00000424571:M692I;ENSP00000425596:M659I	ENSP00000262464:M692I	M	-	3	0	FBN2	127738239	0.157000	0.22836	0.982000	0.44146	0.996000	0.88848	-0.466000	0.06672	-0.136000	0.11475	0.655000	0.94253	ATG		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
AFF4	27125	hgsc.bcm.edu	37	5	132232707	132232707	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:132232707C>T	ENST00000265343.5	-	11	1994	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	AFF4_ENST00000378595.3_Missense_Mutation_p.G539R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	539					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTTCTGATCCCTTTTGGATG	0.502																																					Ovarian(126;889 1733 2942 10745 11605)												0			5											137.0	127.0	130.0					5																	132232707		2203	4300	6503	132260606	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1615G>A	5.37:g.132232707C>T	ENSP00000265343:p.Gly539Arg		132260606	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932753	0.73442	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.66280	-0.2;-0.2	5.36	5.36	0.76844	.	0.047599	0.85682	D	0.000000	T	0.77791	0.4183	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.985	T	0.71928	-0.4444	10	0.17369	T	0.5	-11.9944	19.4427	0.94827	0.0:1.0:0.0:0.0	.	539;539	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	R	539	ENSP00000265343:G539R;ENSP00000367858:G539R	ENSP00000265343:G539R	G	-	1	0	AFF4	132260606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.488000	0.66869	2.649000	0.89929	0.563000	0.77884	GGA		0.502	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
PCDHA5	56143	hgsc.bcm.edu	37	5	140202971	140202971	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:140202971C>T	ENST00000529859.1	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA5_ENST00000529619.1_Silent_p.R537R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.682																																																	0			5											46.0	53.0	51.0					5																	140202971		2202	4298	6500	140183155	SO:0001819	synonymous_variant	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1611C>T	5.37:g.140202971C>T			140183155	O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	CCDS54917.1																																																																																				0.682	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHAC1	56135	hgsc.bcm.edu	37	5	140307377	140307377	+	Silent	SNP	T	T	C	rs12522306	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:140307377T>C	ENST00000253807.2	+	1	900	c.900T>C	c.(898-900)ggT>ggC	p.G300G	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.G300G|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCACTAGGTCCGCCTGAAA	0.547													t|||	64	0.0127796	0.0015	0.0893	5008	,	,		22611	0.0		0.0	False		,,,				2504	0.0																0			5						T	,,,,,,,,,,,,,,,,,	6,4400	12.9+/-30.5	0,6,2197	131.0	116.0	121.0		900,,,,,,,,,,,,,,,,,900	0.4	0.2	5	dbSNP_120	121	0,8600		0,0,4300	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHAC1,PCDHA13,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018898.3,NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018904.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031882.2	,,,,,,,,,,,,,,,,,	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	,,,,,,,,,,,,,,,,,	300/964,,,,,,,,,,,,,,,,,300/819	140307377	6,13000	2203	4300	6503	140287561	SO:0001819	synonymous_variant	56135			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.900T>C	5.37:g.140307377T>C			140287561	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	CCDS4241.1																																																																																				0.547	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHB7	56129	hgsc.bcm.edu	37	5	140553098	140553098	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:140553098G>A	ENST00000231137.3	+	1	856	c.682G>A	c.(682-684)Gtg>Atg	p.V228M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V228M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGCCCTCGTGCGCATTCT	0.547																																																	1	Substitution - Missense(1)	endometrium(1)	5											58.0	60.0	59.0					5																	140553098		2203	4300	6503	140533282	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.682G>A	5.37:g.140553098G>A	ENSP00000231137:p.Val228Met		140533282	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	8.236	0.805796	0.16467	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.33216	1.42	4.61	1.67	0.24075	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52191	0.1719	M	0.88512	2.96	0.09310	N	1	D	0.67145	0.996	D	0.63033	0.91	T	0.41251	-0.9519	9	0.72032	D	0.01	.	4.1948	0.10438	0.3445:0.0:0.5046:0.1508	.	228	Q9Y5E2	PCDB7_HUMAN	M	228;11	ENSP00000231137:V228M	ENSP00000231137:V228M	V	+	1	0	PCDHB7	140533282	0.015000	0.18098	0.001000	0.08648	0.003000	0.03518	0.333000	0.19768	0.078000	0.16900	0.655000	0.94253	GTG		0.547	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB16	57717	hgsc.bcm.edu	37	5	140563764	140563764	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:140563764G>A	ENST00000361016.2	+	1	2785	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	544	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAGCAGCGAGGCGCTGGT	0.697																																																	0			5											17.0	19.0	18.0					5																	140563764		1822	3391	5213	140543948	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1630G>A	5.37:g.140563764G>A	ENSP00000354293:p.Glu544Lys		140543948	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.975092	0.53720	.	.	ENSG00000196963	ENST00000361016	T	0.01705	4.68	4.12	1.13	0.20643	Cadherin (5);Cadherin-like (1);	0.702237	0.11206	N	0.588250	T	0.01156	0.0038	N	0.05259	-0.085	0.24366	N	0.994857	P	0.35242	0.492	B	0.32090	0.14	T	0.51332	-0.8719	10	0.72032	D	0.01	.	9.0876	0.36590	0.2032:0.323:0.4739:0.0	.	544	Q9NRJ7	PCDBG_HUMAN	K	544	ENSP00000354293:E544K	ENSP00000354293:E544K	E	+	1	0	PCDHB16	140543948	0.223000	0.23663	1.000000	0.80357	0.920000	0.55202	0.821000	0.27338	0.202000	0.20498	0.479000	0.44913	GAG		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHGA5	56110	hgsc.bcm.edu	37	5	140744083	140744083	+	Silent	SNP	C	C	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:140744083C>T	ENST00000518069.1	+	1	186	c.186C>T	c.(184-186)cgC>cgT	p.R62R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGAGCGCGGAGTCCGCA	0.647																																																	0			5											48.0	59.0	55.0					5																	140744083		2201	4298	6499	140724267	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.186C>T	5.37:g.140744083C>T			140724267	Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																				0.647	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
DUSP1	1843	hgsc.bcm.edu	37	5	172196694	172196694	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:172196694A>G	ENST00000239223.3	-	3	859	c.617T>C	c.(616-618)gTc>gCc	p.V206A	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	206	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		ATTGGCTGAGACGTTGATCAA	0.552																																																	0			5											216.0	182.0	193.0					5																	172196694		2203	4300	6503	172129300	SO:0001583	missense	11266			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.617T>C	5.37:g.172196694A>G	ENSP00000239223:p.Val206Ala		172129300	D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640510	0.87859	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.62498	0.02	5.32	5.32	0.75619	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	T	0.74688	-0.3581	10	0.46703	T	0.11	.	15.3007	0.73949	1.0:0.0:0.0:0.0	.	206;163	P28562;B4DNT2	DUS1_HUMAN;.	A	206;179;141	ENSP00000239223:V206A	ENSP00000239223:V206A	V	-	2	0	DUSP1	172129300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.296000	0.96104	2.023000	0.59567	0.459000	0.35465	GTC		0.552	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417	
BOD1	91272	hgsc.bcm.edu	37	5	173036350	173036350	+	Silent	SNP	T	T	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:173036350T>C	ENST00000311086.4	-	3	673	c.450A>G	c.(448-450)gaA>gaG	p.E150E	BOD1_ENST00000285908.5_Intron|BOD1_ENST00000471339.1_5'Flank|BOD1_ENST00000480951.1_Intron	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	150					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GAATTGCTCGTTCTATTTGTG	0.527																																																	0			5											145.0	128.0	134.0					5																	173036350		2203	4300	6503	172968956	SO:0001819	synonymous_variant	91272			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"""biorientation defective 1"""		"""family with sequence similarity 44, member B"""	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.450A>G	5.37:g.173036350T>C			172968956	B4DXH8|Q9BTW1	Silent	SNP	ENST00000311086.4	37	CCDS4389.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.425778	0.25639	.	.	ENSG00000145919	ENST00000477985	.	.	.	5.65	-1.03	0.10102	.	.	.	.	.	T	0.58061	0.2096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54925	-0.8220	4	.	.	.	-39.1734	11.5227	0.50560	0.0:0.6527:0.0:0.3473	.	.	.	.	A	83	.	.	T	-	1	0	BOD1	172968956	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	0.804000	0.27098	-0.122000	0.11766	-0.256000	0.11100	ACG		0.527	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1	NM_138369	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026123	176026123	+	Missense_Mutation	SNP	A	A	G	rs142779818|rs550332435|rs371149640|rs386695335	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:176026123A>G	ENST00000303991.4	-	2	890	c.713T>C	c.(712-714)tTg>tCg	p.L238S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	238				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTTTCTCAAAGACCCAGG	0.488																																																	0			5											91.0	95.0	94.0					5																	176026123		2116	4165	6281	175958729	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.713T>C	5.37:g.176026123A>G	ENSP00000305839:p.Leu238Ser		175958729	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	A	0.426	-0.905972	0.02453	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.08458	3.09	4.02	0.308	0.15815	.	.	.	.	.	T	0.05686	0.0149	L	0.45698	1.435	0.09310	N	1	B	0.32573	0.376	B	0.30401	0.115	T	0.38351	-0.9665	9	0.09338	T	0.73	-0.2075	3.0934	0.06301	0.4377:0.0:0.3657:0.1966	.	238	Q7Z2K8	GRIN1_HUMAN	S	238	ENSP00000305839:L238S	ENSP00000305839:L238S	L	-	2	0	GPRIN1	175958729	0.000000	0.05858	0.009000	0.14445	0.480000	0.33159	0.211000	0.17474	0.402000	0.25451	0.260000	0.18958	TTG		0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
CDK14	5218	hgsc.bcm.edu	37	7	90741856	90741856	+	Splice_Site	SNP	G	G	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:90741856G>T	ENST00000380050.3	+	13	1285		c.e13-1		CDK14_ENST00000436577.2_Splice_Site|CDK14_ENST00000265741.3_Splice_Site|CDK14_ENST00000406263.1_Splice_Site			O94921	CDK14_HUMAN	cyclin-dependent kinase 14						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CATGTTTTTAGGCTCAGCTAT	0.433																																					GBM(83;1228 1256 8311 16577 31299)												0			7											132.0	144.0	140.0					7																	90741856		2203	4300	6503	90579792	SO:0001630	splice_region_variant	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1155-1G>T	7.37:g.90741856G>T			90579792	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Splice_Site	SNP	ENST00000380050.3	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.184567	0.78677	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	.	.	.	5.97	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.19	0.86877	0.0:0.1261:0.8739:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK14	90579792	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	8.819000	0.91997	1.507000	0.48752	0.655000	0.94253	.		0.433	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	Intron
PRRC2C	23215	hgsc.bcm.edu	37	1	171511149	171511149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:171511149delA	ENST00000338920.4	+	16	4775	c.4538delA	c.(4537-4539)gaafs	p.E1513fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.E1515fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.E1515fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.E1513fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GAGAGGGATGAAAAAAAAAAT	0.388																																																	0			1											59.0	63.0	62.0					1																	171511149		2203	4300	6503	169777773	SO:0001589	frameshift_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4538delA	1.37:g.171511149delA	ENSP00000343629:p.Glu1513fs		169777773	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	CCDS1296.2																																																																																				0.388	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
CENPL	91687	hgsc.bcm.edu	37	1	173772350	173772350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr1:173772350delT	ENST00000345664.6	-	4	927	c.714delA	c.(712-714)gaafs	p.E238fs	CENPL_ENST00000356198.2_Frame_Shift_Del_p.E284fs|CENPL_ENST00000367710.3_Frame_Shift_Del_p.E238fs	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	238					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ACCAAAGAAATTCAGTAGTAG	0.428																																																	0			1											99.0	100.0	100.0					1																	173772350		2203	4300	6503	172038973	SO:0001589	frameshift_variant	91687			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.714delA	1.37:g.173772350delT	ENSP00000323543:p.Glu238fs		172038973	Q5TEL5|Q96ND4	Frame_Shift_Del	DEL	ENST00000345664.6	37	CCDS30938.1																																																																																				0.428	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319	
TMEM247	388946	hgsc.bcm.edu	37	2	46707883	46707884	+	Frame_Shift_Ins	INS	-	-	GG	rs201742486		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr2:46707883_46707884insGG	ENST00000434431.1	+	2	457_458	c.457_458insGG	c.(457-459)caafs	p.Q153fs		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	153						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GCAGCTGCAGCAAGAGGCGGCG	0.678																																																	0			2																																								46561388	SO:0001589	frameshift_variant	388946				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707883_46707884insGG	ENSP00000388684:p.Gln153fs		46561387		Frame_Shift_Ins	INS	ENST00000434431.1	37	CCDS56117.1																																																																																				0.678	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786035	75786036	+	Frame_Shift_Ins	INS	-	-	A	rs113748085|rs149076283		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:75786035_75786036insA	ENST00000478296.1	-	4	2864_2865	c.2588_2589insT	c.(2587-2589)ttcfs	p.F863fs	ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.F913fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.F906fs			Q9BY31	ZN717_HUMAN	zinc finger protein 717	903					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTGTTCAAGGGAAAAAAGAGTG	0.46																																																	0			3																																								75868726	SO:0001589	frameshift_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2589dupT	3.37:g.75786041_75786041dupA	ENSP00000419377:p.Phe863fs		75868725		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					0.460	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del		196990687	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388758	1388788	+	Frame_Shift_Del	DEL	GCGGAGTGCCCGCCTGCTCACACGTGCCGAC	GCGGAGTGCCCGCCTGCTCACACGTGCCGAC	-	rs112233131|rs375096873|rs369421055|rs573162478|rs372893833|rs146044439|rs577053657|rs138661466|rs141703556|rs146249377	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	GCGGAGTGCCCGCCTGCTCACACGTGCCGAC	GCGGAGTGCCCGCCTGCTCACACGTGCCGAC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:1388758_1388788delGCGGAGTGCCCGCCTGCTCACACGTGCCGAC	ENST00000324803.4	+	1	3419_3449	c.459_489delGCGGAGTGCCCGCCTGCTCACACGTGCCGAC	c.(457-489)atgcggagtgcccgcctgctcacacgtgccgacfs	p.MRSARLLTRAD153fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	153					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R154W(2)|p.D163H(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ACGTGCCCATGCGGAGTGCCCGCCTGCTCACACGTGCCGACGTGGAGTGCC	0.688																																																	3	Substitution - Missense(3)	skin(2)|NS(1)	4																																								1378788	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.459_489delGCGGAGTGCCCGCCTGCTCACACGTGCCGAC	4.37:g.1388758_1388788delGCGGAGTGCCCGCCTGCTCACACGTGCCGAC	ENSP00000323978:p.Met153fs		1378758	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.688	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
POLN	353497	hgsc.bcm.edu	37	4	2209835	2209836	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:2209835_2209836insA	ENST00000511885.2	-	5	945_946	c.592_593insT	c.(592-594)tgtfs	p.C198fs	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Frame_Shift_Ins_p.C198fs			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	198					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTAATATCACAAAAATGTTTT	0.416								DNA polymerases (catalytic subunits)																																									0			4																																								2179634	SO:0001589	frameshift_variant	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.593dupT	4.37:g.2209840_2209840dupA	ENSP00000435506:p.Cys198fs		2179633	A2A336|B4E158|Q4TTW4|Q6ZNF4	Frame_Shift_Ins	INS	ENST00000511885.2	37	CCDS3360.1																																																																																				0.416	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808	
ADAM29	11086	hgsc.bcm.edu	37	4	175899072	175899098	+	In_Frame_Del	DEL	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT	-	rs140568401|rs141115697|rs61744599|rs137958266|rs538790099|rs199709256|rs146933346|rs151310201	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr4:175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENST00000359240.3	+	5	3066_3092	c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	c.(2395-2424)gtgacaccctcccagaggcaacctcagttg>gtg	p.TPSQRQPQL800del	ADAM29_ENST00000514159.1_In_Frame_Del_p.TPSQRQPQL800del|ADAM29_ENST00000445694.1_In_Frame_Del_p.TPSQRQPQL800del|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_In_Frame_Del_p.TPSQRQPQL800del	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAACCTCCTGTGACACCCTCCCAGAGGCAACCTCAGTTGATGCCTTC	0.577																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Nonsense(1)	lung(1)	4																																								176135673	SO:0001651	inframe_deletion	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	4.37:g.175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENSP00000352177:p.Thr800_Leu808del		176135647	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	In_Frame_Del	DEL	ENST00000359240.3	37	CCDS3823.1																																																																																				0.577	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
APC	324	hgsc.bcm.edu	37	5	112175258	112175259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr5:112175258_112175259insT	ENST00000457016.1	+	16	4347_4348	c.3967_3968insT	c.(3967-3969)gttfs	p.V1323fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.V1323fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.V1323fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1323	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1324fs*8(3)|p.V1320fs*8(1)|p.K1192fs*3(1)|p.?(1)|p.E1322fs*8(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)		TGTGAGCGAAGTTCCAGCAGTG	0.436		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"""	7	Insertion - Frameshift(3)|Deletion - Frameshift(3)|Unknown(1)	large_intestine(5)|soft_tissue(1)|skin(1)	5																																								112203158	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3969dupT	5.37:g.112175260_112175260dupT	ENSP00000413133:p.Val1323fs		112203157	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	CCDS4107.1																																																																																				0.436	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
AK9	221264	hgsc.bcm.edu	37	6	109906341	109906342	+	Frame_Shift_Del	DEL	TC	TC	-	rs200236581|rs55642342|rs78047280		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	TC	TC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:109906341_109906342delTC	ENST00000424296.2	-	19	2174_2175	c.2098_2099delGA	c.(2098-2100)gaafs	p.E703fs	AK9_ENST00000368948.2_Frame_Shift_Del_p.E703fs|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	703					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTCTTCTTCTTCTTTTTTTTTC	0.238																																																	0			6								355,1193		75,205,494						-1.0	0.7		dbSNP_129	5	1018,2100		253,512,794	no	frameshift	AKD1	NM_001145128.2		328,717,1288	A1A1,A1R,RR		32.6491,22.9328,29.4256				1373,3293				110013035	SO:0001589	frameshift_variant	221264			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2098_2099delGA	6.37:g.109906341_109906342delTC	ENSP00000410186:p.Glu703fs		110013034	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	CCDS55048.1																																																																																				0.238	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
MRPL18	29074	hgsc.bcm.edu	37	6	160211646	160211648	+	In_Frame_Del	DEL	GTT	GTT	-	rs58504486|rs79336325	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	GTT	GTT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr6:160211646_160211648delGTT	ENST00000367034.4	+	1	149_151	c.27_29delGTT	c.(25-30)gggttg>ggg	p.L10del	TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000544255.1_5'Flank|MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000392168.2_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	10				Missing (in Ref. 2; AAF29043). {ECO:0000305}.	rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GGTTTTGGGGGTTGTTCTCGGTT	0.571														3331	0.665136	0.4818	0.8285	5008	,	,		17145	0.5883		0.7575	False		,,,				2504	0.7812																0			6								2244,2020		587,1070,475						2.9	0.0		dbSNP_130	101	6166,2086		2314,1538,274	no	coding	MRPL18	NM_014161.3		2901,2608,749	A1A1,A1R,RR		25.2787,47.3734,32.806				8410,4106				160131638	SO:0001651	inframe_deletion	29074			AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.27_29delGTT	6.37:g.160211649_160211651delGTT	ENSP00000356001:p.Leu10del		160131636	Q5TAP9|Q9NZW8	In_Frame_Del	DEL	ENST00000367034.4	37	CCDS5270.1																																																																																				0.571	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1		
AGFG2	3268	hgsc.bcm.edu	37	7	100160265	100160266	+	In_Frame_Ins	INS	-	-	GGC			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr7:100160265_100160266insGGC	ENST00000300176.4	+	8	1169_1170	c.1047_1048insGGC	c.(1048-1050)ggc>GGCggc	p.350_350G>GG	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	350					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTCACGATGGGCGGCGGCGG	0.649																																																	0			7								0,4248		0,0,2124						-9.6	0.0			31	8,8230		0,8,4111	no	coding	AGFG2	NM_006076.4		0,8,6235	A1A1,A1R,RR		0.0971,0.0,0.0641				8,12478				99998202	SO:0001652	inframe_insertion	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1060_1062dupGGC	7.37:g.100160272_100160274dupGGC	ENSP00000300176:p.Gly354dup		99998201	O75429|Q96AB9|Q96GL4	In_Frame_Ins	INS	ENST00000300176.4	37	CCDS5697.1																																																																																				0.649	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs		54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
MSLNL	401827	hgsc.bcm.edu	37	16	830748	830767	+	Intron	DEL	GTGTGCACGGGTAGGTGACG	GTGTGCACGGGTAGGTGACG	-	rs529120069|rs530021128|rs561671812|rs200325458|rs550446343|rs370853100	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	GTGTGCACGGGTAGGTGACG	GTGTGCACGGGTAGGTGACG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr16:830748_830767delGTGTGCACGGGTAGGTGACG	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Frame_Shift_Del_p.VTYPCTQ79fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGACAGCTGTGTGCACGGGTAGGTGACGGTGTGCACGG	0.591																																																	0			16																																								770768	SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-586CGTCACCTACCCGTGCACAC>-	16.37:g.830748_830767delGTGTGCACGGGTAGGTGACG			770749		Frame_Shift_Del	DEL	ENST00000442466.1	37																																																																																					0.591	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
KRTAP9-8	83901	hgsc.bcm.edu	37	17	39394711	39394725	+	In_Frame_Del	DEL	GACCACCTGCTGCAG	GACCACCTGCTGCAG	-	rs550091794|rs374427254|rs373648251	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	GACCACCTGCTGCAG	GACCACCTGCTGCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr17:39394711_39394725delGACCACCTGCTGCAG	ENST00000254072.6	+	1	415_429	c.408_422delGACCACCTGCTGCAG	c.(406-423)gagaccacctgctgcagg>gag	p.TTCCR137del		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	137	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACCTGCTGCAGGACCACTTGC	0.591																																																	0			17																																								36648251	SO:0001651	inframe_deletion	83901			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.408_422delGACCACCTGCTGCAG	17.37:g.39394711_39394725delGACCACCTGCTGCAG	ENSP00000254072:p.Thr137_Arg141del		36648237		In_Frame_Del	DEL	ENST00000254072.6	37	CCDS42334.1																																																																																				0.591	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1		
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0.0																																																	0			20																																								55400100	SO:0001628	intergenic_variant	55544																															Unknown.37:g.0_0insC			55400099		Frame_Shift_Ins	INS		37																																																																																				0	0								
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del		44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
NEFH	4744	hgsc.bcm.edu	37	22	29885581	29885604	+	In_Frame_Del	DEL	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs79235463|rs200984527|rs370803228	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	AGGCCAAGTCCCCAGAGAAGGAAG	AGGCCAAGTCCCCAGAGAAGGAAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr22:29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENST00000310624.6	+	4	1985_2008	c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	c.(1951-1977)aaggccaagtccccagagaaggaagag>aag	p.AKSPEKEE652del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	658	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCTGAGAAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTC	0.562																																																	0			22																																								28215604	SO:0001651	inframe_deletion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1952_1975delAGGCCAAGTCCCCAGAGAAGGAAG	22.37:g.29885581_29885604delAGGCCAAGTCCCCAGAGAAGGAAG	ENSP00000311997:p.Ala652_Glu659del		28215581	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs371997714|rs66500630|rs113792005|rs376182024|rs541462698|rs369923129|rs553799224	byFrequency	TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674														708	0.141374	0.0272	0.2291	5008	,	,		20774	0.0565		0.1918	False		,,,				2504	0.2689																0			22								138,3818		23,92,1863						2.2	0.8		dbSNP_130	20	1131,6525		291,549,2988	no	coding	BAIAP2L2	NM_025045.4		314,641,4851	A1A1,A1R,RR		14.7727,3.4884,10.9283				1269,10343				36812340	SO:0001651	inframe_deletion	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	22.37:g.38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENSP00000371085:p.Ile441_Arg454del		36812299	B0QYE2|Q96BG7	In_Frame_Del	DEL	ENST00000381669.3	37	CCDS43018.1																																																																																				0.674	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
SLC25A5	292	hgsc.bcm.edu	37	X	118603706	118603707	+	Frame_Shift_Ins	INS	-	-	G	rs113356560		TCGA-F5-6811-01A-11D-1826-10	TCGA-F5-6811-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	f13f0ad4-f356-4674-ac6f-8a50bce4ad7c	236e43a6-590b-4f52-9d90-4cc8d139bdfa	g.chrX:118603706_118603707insG	ENST00000317881.8	+	2	310_311	c.194_195insG	c.(193-198)cagggafs	p.QG65fs	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	65					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CCCAAGGAGCAGGGAGTTCTGT	0.49																																																	0			X																																								118487735	SO:0001589	frameshift_variant	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.197dupG	X.37:g.118603709_118603709dupG	ENSP00000360671:p.Gln65fs		118487734	B2RCV1|O43350	Frame_Shift_Ins	INS	ENST00000317881.8	37	CCDS14578.1																																																																																				0.490	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152	
